Samuel Bartlett

2012

2012-02-08T17:12:00.000-08:00

Hello friends!
Not sure anyone still follows this but felt it in my heart to update =)

Sammie is doing so wonderful..he is 5, in Kindergarten and progressing very well!
He loves school and gets so excited every moringing when he sees the bus pull up, yes he rides the bus, a difficult decision for me to make but I have to work so he rides the bus. He sits in the front seat with one of the lovely bus monitors and enjoys looking out the window while he rides. The bus staff just love him and are happy to see him everyday!

Sammie has been participating in Medicine Horse for almost a year! He loves it, his horse's name is Miss Lilly. It's been a cold winter but Sammie has been patient with the weather and tolerates riding.

Sammie continues to work on crawling and walking, he needs help to walk but loves to be on his feet and really enjoys going up and down the stairs with help. He also continues to work on communication. He is able to shake his head yes and no and say mamama, bear, apple and cookie. He has different sounds for yes and no but we really attempt to get him to shake his head. He also started using a big kid cup. He is very messy but enjoys being independent! Thankfully he enjoys most foods so he eats pretty good!

Sammie continues to be a sweet, loving little boy. He has blessed me everyday with happiness.

A beautiful walk!

2010-04-26T05:02:00.000-07:00

Thank you to everyone who donated to March for Babies! And also a huge thank you to everyone who traveled to Plattsburgh for the walk and to all those who live here and were able to make it! We had a beautiful day and a beautiful walk!

Twenty four people were present to support Team Sammie Wammie's! We raised $1046!

March For Babies!!

2010-04-19T04:55:00.001-07:00

Hello Everyone!
I'm pleased to announce that we have a fabulous group representing Team Sammie Wammies this year!! Sammie's Aunt Lynn, Aunt Andrea, Uncle Jam, cousins Isaiah, Owen, Mia, Landyn, GG, fantastic family friend Sally, and maybe a few more!!

My fundraising efforts haven't been as prosperous as last year but every little bit helps the organization! We're very happy to so what we can to help raise money for the March of Dimes. Both my sister Lynn and I have spent time in the NICU with our babies and both of us had to spend many sleepless nights at Boston Children's Hospital with our sick babies. Our famiy supported us through these times and continue to support us. We have personally seen the wonderful effects of the March of Dimes organization and hope you will donate to us or eve start your own team!

You can go to marchforbabies.org and we are Team Sammie Wammies in Plattsburgh, New York!!

Remembering..

2010-03-31T20:03:00.000-07:00

Today has been a year since Sammie and I lost our dear friend Emma. I wanted to write something about her because I was thinking if I was her mommy I would want to know that people are remembering her and how much love and joy she brought into this world.

I remember the first day we all met..I was so happy to have someone so close by to share my adventures of raising a child with 1p36. She was so beautiful (like her mom) and I thought "my god..if I had a girl..thats exactly what she'd look like!". My mom was with me and we were all so excited to meet.

Each time we went to Vermont we met up. Kaitlyn was the parent that planned our 2nd annual conferernce and she also pretty much, single handedly started up the initial procedure for our nonprofit organization. She got the ball rolling! She was so wonderful with her peanut and a fantastic advocate!

The news of Emma's passing came suddenly...I still can't believe it. I think of them almost daily..Sammie's would be best friend and her mommy..my friend who totally understood my life, lost in a heartbeat. I can't change whats happened, I'm grateful to know both of them and share in some of Emma's memories. She was a beautiful, sweet, baby girl who is missed each day.

Both of these girls will be in our hearts always. We miss you Emma and we love you.

2010

2010-02-22T13:00:00.000-08:00

Hello all!
Been a little bit since my last Sammie Blog! I apologize but we have been super busy like everyone else on the planet =)

Sammie is doing great! Preschool is going wonderfully! He just finished a weeks vacation..that I think he enjoyed! I didn't have vacastion so we didn't get real crazy but did enjoy some down time while it lasted! He has had 2 parent teacher conferences and his teachers and therapists are as pleased with him as we are =) He is continuously making gains in the right direction! He is still working on walking/standing..he loves to be on his feet but still needs to be supported. He's doing pretty good in his gait trainer and loves to hold on and walk around! He also brings his leg up when in front of stairs, he steps up on the stair, and with as much weight as he can he'll go up the stair! Pretty impressive! He has had CME therapy twice at school! It stands for Cuevas Medek Exercise Therapy. Designed by a Venezualian man named Ramon Cuevas in the 1970's! If you google it you'll find videos! I'll try to post the one of Sammie on here! But just in case check out other videos! He has been using PECs at school with some success. He comes home with all sorts of fabulous art projects! I'm trying to make sure I don't save all of them! haha

Darby is back and we're all so happy about that! She stayed with her mom for a few months but decided to return and we have all enjoyed spending more time with her! Sammie loves her so much and she is so wonderful with him =) She has really been helping us out by watching Sammie here and there between work and school! She is working on training her Geniue Pigs (sp??!) If you have any suggestions let me know and I'll pass them on!

Sammie went skiing at White Face a couple of weeks ago! The whole preschool was invited to go and they have some adaptive skis that Sammie used with the assistance of the adaptive ski instructors!! How exciting! He didn't like the ride up but seemed to enjoy the ride down! I hope he learns to love it cause I do and so does Darby!

All of his recent appointments have gone well which makes us all very happy! He is no longer drinking pediasure =) we do have a weight check coming up but he has been eating like a little piglet so I'm not worried!

Preschool and Sammie's 3 years old!

2009-10-28T10:46:00.001-07:00

Sammie had a party for his 3rd Birthday at school!! He had a fantastic time! His make a wish granters brought cupcakes and balloons and presents! All his classmates were able to be there to enjoy the fun time! As you can tell from the picture he looooved the string on the balloon!
Preschool has been going great for him! I truely think he enjoys it there! The staff is wonderful! Sammie is getting better at cruising around in his gate trainer and he can wave now! We're pretty sure he has said bye on a couple of occasions! They are working on all sorts of wonderful things in preschool!
We had a party for Sammie's birthday this weekend! Lots and lots of family and friends were able to join us and it turned out to be a beautiful day out! I still can't believe my little guy is 3 years old...but it's true! He has really started to interact with people and sort of play with other kiddos. It's so exciting!

First Week of Pre-School!

2009-09-21T17:23:00.000-07:00

So Sammie had his first full week of pre-school last week! He LOVES School! Well at least he seems to love it! He has a very nice aide named Alyse and his teacher is Miss Mandy and all the ladies in the classroom seem like real sweethearts! He has 7 classmates and they all seem like wonderful children! He goes to school Monday thru Friday from 8-1...a very long day! He is always super happy to see me walk in at the end of the school day and usually passes out in the car on the way home or shortly after!
They are doing a All About Me theme and are learning about themselves and the people in their families! Very exciting stuff going on!
We bring his gate trainer to school each day so he has it there to use and the therapists can work with him there also! He has been trying out all sorts of new foods! The kiddos all eat the school lunch so Sammie has been indulging in some fine cuisine! Well trying it out anyway!
It's still difficult to leave him at school..I still want to go pick him up before school is out but I have so much homework and need to start substitute teaching so I'm glad he has a wonderful classroom to learn in while I'm busy doing Mommy stuff!

Make a Wish!

2009-08-17T13:08:00.000-07:00

Hello all!
Sammie is doing great! He will get strapped into his very own gate trainer for the fist time tomorrow morning! Very exciting news! I can't wait to see what he does and where he goes! His therapies have been going well! He's been chatting up a storm..we're not sure what he's saying but it sounds great! haha!

He starts school in a couple of weeks and we are super excited about that! We will probably leave the gate trainer at school because it's big and doesn't fold up. He'll be riding the bus to and from school (thats sorta a trial basis!)!

The make a wish people contacted me and the ball is rolling on that. Melissa and Brian, Sammie's wish grantors, came to visit him and brought him all sorts of his favorite treats! They were very sweet and we're happy to be working with them to figure out what Sammie's biggest wish would be =) If you parents have any fabulous suggestions I would LOVE to hear them! Insurance pays for Sammie's medical equipment so we don't need t worry about that but maybe you've heard of a wonderful toy, peice of furniture, or some other thing I've never heard of that my Sammie would love to have?!?! I posted some photos of him opening his gifts! Hope you enjoy!

finally a couple new pics!

2009-06-15T20:31:00.000-07:00

Bye bye Enalapril!

2009-05-27T12:44:00.000-07:00

Sammie saw to docs last week and all is well and wonderful!
First he saw Dr. Drucker, his Cardiologist. She was very pleased to inform us that Sammie's echo looked the same as last time. That means his heart function is the same and hasn't gotten any worse. Because his function was the same she decided to take him off the Enalapril and increased the dosages of Digoxin and Carvedilol. One less drug is sooooo exciting! One less thing to make sure he gets and no more waking him up to give him meds! woo hoo! We won't see her again for six months =)

Sammie also saw Dr. Hastings, the Optomologist. This was the same day as the Cardiologist so by this point he was exhausted and cranky. He did however perform well enough that we don't need to see her again for a year! It's great that his appointments are getting less and less!

Today we met with an OT and PT to do half of Sammie's pre-school evaluation. We had to pick one of the local agencies and then they try to get him to perform all sorts of things and ask a bunch of questions to get a better understanding of where he is developmentally. They rated Sammie at an 8-10 month level. A little lower than his current therapists but you have to remember that these therapists are not familiar with Sammie and have only seen him for one hour of his whole life! So we will meet with the ST and Special Education teacher next week to do that half of the evaluation.

We're still not sure what's going on in the fall. We def. think he'll qualify for pre-school..the problem is whether or not there will be a pre-school available. He is on the list for one that "might" close due to finacial issues and the other one is full. Hopefully someone drops out cause he's next on the list! Maybe someone will move! Whatever happens I'm sure something will come together! It always seems to work out!

1p36 link

2009-04-25T03:48:00.000-07:00

Hopefully the link works!!
Here's a link to an article with info about 1p36. The organization is called Unique and they are based in the UK. The info is put together in a very reader friendly way.for those of us who aren't doctors!

http://www.rarechromo.org/information/Chromosome%20%201/1p36%20deletion%20FTNW.pdf

Updates....

2009-04-20T05:39:00.001-07:00

Hey all..
Just a few updates about Sammie's 6 month check-ups.
Sammie saw Dr. Contampasses, a Developmental Pediatrician. He signed off on Sammie basically because there are already a few aganecies following Sammie's progress and if he signs off then it's one less visit for us! I'm not at all disappointed in this decision..not that I don't like the doc but he's the one that always reminds me how far behind my Sammie is. Like I don't already know! =) So he did one last eval on Sammie and put him developmentally at about an 8 month old level. He signed off and said if we ever needed anything for Sammie that we could contact him anytime!

The Sammie saw Dr. Hubble, Otolaringologist (sp??), and Sammie's tubes look great! The audiologist in Glen's Falls wanted me to ask about an unsedated ABR but Dr. Hubble and the audiologist Sammie saw at Fletcher Allen said he couldn't have an unsedated ABR because of his tubes and they didn't see the need to have and ABR till fall 2010 unless they felt there was more hearing loss. So I'm not really sure why the audiologist in Glens Falls feels the need to have one done!? Oh well..I'll let her know what Dr. Hubble said and go from there!

May 19th he sees Dr. Drucker, Cardiologist and Dr. Hastings, Optomologist in Burlington. Don't know how it worked out that they're on the same day! I love Dr Drucker but I hate going to see her...I'm sure all is well and we will leave with some med increases because he's gained weight..hopefully that will be all to report!

All of his therapies are going well. We are in the process of trying to get a gait trainer for him..trying to get the insurance to pay for it. What a pain in the ass. I want him to have it for the fall. We are also in the middle of trying to get him into an 8-1-2 classroom for the fall. The only one around here is at a place called Pyramids and rumor has it they could be closing. I really really hope that doesn't happen and if it does then I really really hope another agency buys them out and takes it over. A school closing like this could devistate the special needs community. They also have 2 6-1-1 classrooms and a 12-1-1 classroom. A lot of classrooms and a lot of services would be lost. Not to mention a lot of people would be out of work. So we'll hope that doesn't happen and that he'll get in =)

Sammie is still obsessed with turning the pages of books, pulling peoples hair, those stretchy weird balls, and pulling strings! He's been doing such a good job sitting up and rolling over and trying to take steps! His OT brought over some grass seed and Sammie grew some grass. A little green thumb I guess! If you know me then you know I tend to kill plants...not on purpose..I'm just not that good at it. But Sammie's grass is about 5 inches tall and in need of some mowing! haha

We continue to think about and pray for our dear friends Kate and Emma. Sending love to them always and missing little Emma.

Updates....

2009-04-20T05:39:00.000-07:00

Hey all

Little Emma

2009-04-01T10:17:00.000-07:00

I am devastated to write that Sammie and I have lost a dear friend.
We first met Emma just over a year ago at Fletcher Allen Health Care in Vermont. Sammie's geneticist had called me to inform me that there was another 1p36 diagnosis..Sammie wasn't the only one anymore. I was saddened to hear of another diagnosis but happy to hear there was another family so close by.

Kate and I hit it off right away! We spent hours together over the last year at the hospital. I called every time we went for appointments and her an Emma would meet us in the Cafeteria when we were done or had a break between appointments. Kate pretty much planned most of the 2nd Annual 1p36 Conference in Boston and started the Vermont non-profit organization so we could raise funds for the non-profit for the conference. She did all this while being a single mom to her beautiful Emma...she was a wonderful mother..a passionate mother. I can't believe her loss.

Every time I look at my Sammie I see Emma's little face in him. I know they would have been great friends. I keep hugging and kissing him..reminding myself that our time here is short and we just don't know what can happen.

I ask that you please send your thoughts and prayers to Kate and her family during this devastating time. Please keep little Emma in your prayers as well.

Just stuff..

2009-03-08T06:27:00.000-07:00

Hello all..
It's been a little while. Sammie and I have been very very busy! Story of everyone's life!
Sammie has been doing great! We just moved..only down the street but Sammie seems to like the new place. I love it..my last place was on the third floor and while I'm sure the two fights of stairs were part of my daily workout I am NOT missing them!!
My little Sammie has been sitting up on his own for like 15 minutes at a time. I have even left him sitting unattended for a few minutes.
He still loves to be on his feet and I have him walking around (with my assistance of course) as often as possible! He takes excellent steps with help! I have noticed more frustration lately. If a toy rolls away and it's not within arms length, he will try to roll and get it and then sometimes he gets angry enough that he shimmys over to it or he gets up on his knees (not his hands) and pushes off his knees. So he is certainly trying to master the art of problem solving. While it breaks my heart to see him try so hard it also makes me feel happy that he is trying to solve/fix the problem!
He's eating pretty well! A lot of the same stuff still. I want to chat with his doc about the pediasure..there's a lot of sugar in it and he has been drinking it for a year and a half now. He LOVES chocolate chip cookies and goldfish. I think he would live on those if I let him!
We ran into his old PT and she couldn't believe how much he had grown into a little boy! He is very long and still a little bean pole! It always amazes me when people tell me he's huge. He's 28 months and only 19 pounds..that is tiny..I mean he's long but very skinny..little twig limbs =)
We are currently trying to raise money for the March of Dimes. Our goal this year is $1000. If you would like to make a donation you can find us on the March of Dimes page under team Sammie Wammies...go ahead check it out!

2009-02-07T08:30:00.001-08:00

2009-01-05T07:43:00.000-08:00

Make an on-line slide show at www.OneTrueMedia.com

A New Year..

2009-01-03T18:43:00.001-08:00

It's been just a little while since my last post about my Sammie! We've been very busy with the holidays and I'm happy to say we survived another year!

It's been a crazy...busy year to say the least!

I'm sure we had at least 40 something specialist appointments and 100's of therapy appointments! But all is well and Sammie is doing wonderfully! He did have a couple of minor surgeries this year and all went well with those! He also got hearing aides which seem to have helped him a lot!

We had a lovely holiday but I'm not sure Sammie likes Christmas all that much! He woke up, opened one toy and only wanted to play with that one so he got angry every time we tried to have him open another one! We had a big family party to go to that day and he just kinda tuned out and fell asleep for the most part! We're pretty quiet around here so the big parties can be overwhelming for him! We did go back to Grammy's house after the party though where I enjoyed a nap (I was a bit under the weather) and Sammie enjoyed a soothing rocking chair with his GG! Thank you GG! While we enjoyed visiting everyone we are happy to be home and back into our normal routine..if you can call it that!!

I just want to remind you all how very special you are to me. Sammie and I are surrounded by wonderful people! We have to best family! They are ALWAYS there for us...they have done so many things for us and supported us through all the good and bad times we've had over the last year. They helped me get to the annual 1P36 conference and some of them were even able to come with me to meet my other family =) I can't possibly express the gratitude and love I have for the people in my family.

To my 1P36 family who I check in on everyday..who answer all my questions and take the time to respond to my posts. I would be so lost without their guidance, love and support. I feel truly blessed to have them in my life..even if I haven't met some of them!

To my friends..old and new..who are there for me everyday..who bring some normalcy into my life and help make me feel as happy as I do.

When I look back on this year..I have no regrets..when I look to this new year I have hope, love and happiness! Thank you again to all of you and I hope you all have the most wonderful year.

Hugs xoxo

Hearing Aids

2008-12-08T11:59:00.000-08:00

Just wanted to let everyone know that we are adjusting to the hearing aids pretty well! I am getting faster and placing them and he only pulls them out once a day! I do have to keep and eye on that! They don't seem to bother him much. He does yell while I put them in but that's probably because I'm holding him down!

We put our Christmas tree up on Saturday! I thought Sammie would love staring at all the lights but I think he could care less about it! Oh well! At least he's not pulling the decorations off! That's the cats job!

Sammie's 6 month evaluation for Early Intervention is this Friday. I'm excited to have all his therapists in the room all at once to discuss his successes and new goals. He has been doing sooooo good! Sitting up, balancing himself better, drinking from his cups on his own, bringing both hands to mid line to grab something!!!!! I'm very excited! We are going to increase his speech from 2 days to 4 days a week. We're hoping with the help of the hearing aids this will help him make more sounds! I think I will increase everything but want to see what my schedule will look like. We are always busy with something! :)

Hope you are all enjoying the holiday season! I'm very excited to go to Vermont and spend a whole 5 days with my family!!

Update..

2008-11-19T18:25:00.000-08:00

Update
Sammie had an appointment with his Cardiologist and Neurologist yesterday at Fletcher Allen. It never fails that the days I need to drive an hour or two are the days that it decides to snow out! It wasn't bad though!

We were in Burlington the day before for Darby's appointment and while we were waiting we saw Dr. Johnston. She was the Neo-natal physician that treated Sammie in the NICU and also saw him up until about 6 months ago. She couldn't believe how big he was and how much he had changed! She was very pleased to see him! He can put a smile on anyones face! :)

So yesterday we saw Dr. Drucker, his Cardiologist, first. She also hasn't seen him in 6 months. She was so happy to see him sitting up and standing (with my assistance of course!) and playing and making noise. She couldn't believe how much energy he had. I told her she hadn't seen anything! haha! She checked him over, answered all my questions, asked me questions, changed some medication doses and told us she'd see us in 6 months! woo hoo! I love those visits..where it's more a visit then anything else!

Next he saw Dr. Kalsner, his Neurologist. He had passed out for his nap by this time so she decided not to wake him. After all, Dr. Drucker had already poked around him! Since he has now been off the seizure medication for a year and we have not seen any seizure like activity she said we don't need to see her again unless something comes up! Another huge WOO HOO! So a big Thank you shout out to Dr. Kalsner and all her nurses that took such wonderful care of my Sammie Sam! We will miss you dearly, but hope we only see you in the hallways or if you pop in to say hello at a different appointment!

So great news this week. He has his two year check-up on Friday! Busy busy week here and next week will be also because of Thanksgiving! Hope you all have a great Holiday!
Chow!

Another day in the life of...

2008-11-09T19:54:00.000-08:00

Hello all!
We've been having some beautiful weather up here in the North Country! Hope it's the same where you are..or even nicer!
Sammie and I will be venturing to Glens Falls, NY in the morning for our first hearing aide visit. We were supposed to go a couple of weeks ago but couldn't because of a snow storm. Not where we live but South of us..where we needed to go! So we'll be off bright and early for that! Hopefully I have everything I need in order for that and if I don't then I guess they'll tell me when I get there!
On a sad note..Sammie's PT has decided to leave Early Intervention :( I certainly respect her decision but will miss her. Sammie and I have become pretty attached to her in the past two years. She is the best in Plattsburgh and I know you all think I'm a bias but everyone who know her knows how dedicated she is to the families she works with and how wonderful she is with the children. She will be deeply missed by our family.
Sammie has been doing good! I'm really trying to keep him up on his feet as much as I can. We're really trying to get him into a crawling position when we work with him. Still working on him grabbing his own bottle..he was doing it a while back but gets mad whenever you try to make him do it now. Not sure what that's about. Still hates water, juice and anything other than Pediasure. I keep trying and hope we never have a pediasure shortage!
I wanted to post some pics of him in his Halloween costume..he was a dragon, but I forgot my camera and when we got back he was sleeping. I will try to remember to put him back in it sometime this week so I can get some photos! He was soooo cute!
He has his 2 year physical next week along with a visit to the Cardiologist and Neurologist for check-ups. Still can't believe it's been 2 years but thats what his birth certificate says so I'm gonna go with it! So I will post the news from those. That will be a looooong week. We will be at Fletcher Allen all day on Monday for Darby, she has Chrones and we're meeting a couple of other people for her team and then Sammie's all day Tuesday with his team, Friday with the Pediatrician and of course Early Intervention everyday, work for me everyday and Oh..looking at my Calendar.... a very special Happy 5th Birthday coming up for Isaiah..one of my fave nephews! wheeeeww Busy!
Chow!

Sending Love..

2008-10-21T20:08:00.000-07:00

I can't continue this blog without first sending out my love and prayers to the Harrison family. They have found themselves in a position that I have thought about numerous times but have been fortunate enough to not actually be in. God Bless little Chloe. While I did not personally know her...she and her family are part of our 1p36 family and I am deeply saddened today for their loss. I'd like to thank my dear friend and 1p36 family member Carmen for the following scripture which has helped me this evening:

He will wipe every tear from their eyes.
There won't be death anymore.
There won't be any grief, crying, or pain,
because the first things have disappeared.”
The one sitting on the throne said, “See, I am making all things new!”
He said, “Write this: ‘These words are trustworthy and true.’” Rev. 21:3

We have had to many losses this year in our family and I find this night I am torn between grieving and celebrating.

My son will turn 2 years old in 18 hours and 35 minutes. And I will celebrate his birth as we wake tomorrow and the whole day through but will be thinking of Chloe, Annette and Jenny. The loss of these three beautiful girls reminds me how lucky I am to have my Sammie here.

He has been through so much...much like the girls... and is still here.

I ask that anyone who reads this..please hug your loved ones, kiss your little angels..call your sister, brother, mother, father, celebrate the day.

Sending out a very Happy Second Birthday to my baby boy....Sammie(my own little angel)...
Sending out love, hugs, and prayers to all the 1p36 families...

"He must have an extra Chromosome..."

2008-10-21T08:12:00.000-07:00

Being a server I often reach the table in the middle of conversations that I'm not interested in hearing but that's just what happens sometimes! A few weeks ago I was waiting on three girls who were waiting for a guy to join them. I went to the table a couple of minutes after his arrival and as I approached the table I heard him say..."he's an idiot..he must have an extra chromosome..hahaha!!". My first instinct was to smack him in the forehead like they do on the V8 commercials, but I need my job. Then I realized that I was standing at the table just staring at him and they were all staring at me and I had forgotten why I was even at the table. I was going through the files in my head for a snappy response, but I had nothing.
I have heard many many many references about being mentally retarded, slow, and idiot and so on..but this I had NEVER heard. Every time I have asked someone not to use the word retard their response is either OK or their excuse is they didn't actually mean they thought the person was a retard but everyone uses the word and blah blah blah... But to say "he must have an extra chromosome" when really the person he is referencing doesn't have a chromosome issue is an ignorant and naive statement.
This uneducated person has no idea the weight his statement carries. As a mamma bear I wanted to lay into him and tell him about the last two and a half years I've had. The couple of times I thought I was going to lose my son, the 100's of doctors visits we have had and continue to have, the surgeries I have sat through waiting patiently to hear that he is ok and hopefully his life will be improved in some way because of it, the hundreds of hours I have spent working with him at home and with early intervention in hopes that he will walk/talk, run to me, reach for me, tell me he loves me with his own little voice, I wanted to tell him about Sammie's super big sister who has watched her precious little brother at Boston Children's Hospital on more than one occasion hooked up to hundreds of wires, machines, and other things we can't possibly understand unless your a nurse or doctor. Tell him how she rubbed his head will he was sedated for days so that he wouldn't feel the pain of the 3 inch incision from where they opened his chest and took his heart out to fix it. How my entire family and thousands of other people have spent their own time thinking about and praying for my little miracle. And that would have been just the beginning of the lesson for this young man.
Then I would get a bit more scientific on him and tell him that my son was born with a genetic syndrome that I'm positive he has never heard of and while he is actually missing the tip of his first chromosome and does not have an extra chromosome...I can relate to the parents of children with Down's. Their stories are very similar to mine.. My son's genetic anomaly occurs in every 1 to 5,000/10,000 births, neither his father nor I are carriers of the syndrome (meaning neither one of us has a trans location) this was a random occurrence for us. Most of these genetic "mistakes" end in a miscarriage because the fetus knows that something is wrong, but some how in Sammie's and other cases the chromosome miraculously caps itself off and the pregnancy continues. There is sooo much information being transferred when a baby is created that it's amazing that so many of us come out with all the information in order!
I ask that you pass this blog on or think about it the next time you or someone you know makes such a harsh statement. I'm still beating myself up for not saying anything to that guy. I can't expect that all people will empathize with my reasoning and I'm often surprised that people will want to argue theirs when it comes to their use of vocab.
My little peanut is developmentally delayed. Mentally retarded is no longer used in the medical field because of its negative connotations. My little guy will receive services of some sort his entire life. My little guy will ride the short bus to school because it is safer for him. My little guy will carry stigmas with him his whole life even though it's not his fault. His chromosome deletion does not make him an idiot. In fact, it's quite the opposite. He works 10 times as hard to learn and do something new! The fact that he is capable of learning even though he is missing information that would make things easier for the "normal" person proves that he is in no way an idiot.
Next time I will smack that guy or whoever in the forehead. Hey, if they can do it to people for not eating their veggies then why can't I do it to people for being rude?!

Just some news...

2008-10-11T18:10:00.000-07:00

We have had a busy couple of weeks here in Plattsburgh!

Sammie finally had his tubes placed and an ABR on September 29. Again I walked with my baby boy down the halls of Fletcher Allen Health Care to an operating room where numerous nurses and doctors were waiting for us. I don't know about other hospitals, but at FAHC you are allowed to go with your loved one to the OR until they are put to sleep. I have been nervous each time I have gone with him...but I want to be the last and first face he sees.. then I was escorted by the surgeon ( a wonderful and bubbly ENT named Dr. Hubble..who must be loved by all his patients!) to my momma (who has been to every major medical event in Sammie's life and probably 98% of his appointments)...I'm not sure this process ever gets any easier though.

Now I've ventured off. Ok...my mom and I went into the PACU to find a sleeping Sammie and we waited patiently for him to wake! He is such a wonderful patient! He woke up and didn't even cry really. He just wanted some food and the nurse let me give him some pediasure! We weren't there for very long. The tube placement went perfectly. Dr. Hubble drained the fluid and placed the tubes and then the Audiologist started to ABR. At first glance the ABR appeared normal but they wanted to check in detail for some certain tones/pitches. The Audiologist called they other day to inform me that Sammie does have some mild hearing loss in certain tones/pitches. He did recommend Sammie see a hearing aide specialist to be fitted for some hearing aides. I have called on that and will know more on Tuesday (darn holidays :) )! So Sammie will be sporting some hearing aides soon. I was really hoping to avoid this issue..and thought we had, but oh well.

Happy news...Sammie will be 2 years old in 11 days!!! I just can't believe it! My little peanut has been through so many things and he is doing great! His PT and I have talked about getting him fitted for a stander! I am very excited! Sammie loves to stand and he has even started taking steps when you put something he wants in front of him! I really think a stander would be the tool we need to get him going! He has been sitting up for much longer and showing more interest in toys! He has certain toys he is totally addicted to. He is obsessed with turning pages and touch and feel cards. In fact I think the only things I have bought him so far for his birthday are books and touch and feel cards that I already opened and played with! Oh well...he doesn't care! Which reminds me that I do want to mention... last year for Sammie's first birthday I had a huge party for him. Many family and friends were there to celebrate his wonderful day! I asked everyone to bring a $5 donations in lieu of presents for the Ronald McDonald house in Burlington Vermont. My home away from home for many many weeks, still is every now and again and also for my sister who has stayed there on numerous occasions for her boys. This year I will have a small gathering for Sammie but invite anyone who would like to donate in honor of Samuel's 2nd birthday to do so at:

Ronald McDonald House Charities of Burlington Vermont

16 South Winooski Avenue

Burlington, Vermont 05401

802-862-4943

Thank you in advance! Last year we were able to raise $231! Not sure where that $1 came from but every dollar helps!

2008 1P36 Deletion Syndrome Conference!

2008-09-17T11:54:00.000-07:00

Hello everyone!

I'm happy to report that we had a wonderful experience at the 2nd Annual 1P36 Deletion Conference!

This year it was held in Boston, MA! We went down on Thursday September 11th. We being me, my mom (Diane), my sister (Lynn), Sammie's sister (Darby) and Sammie of course! Steve, Sammie's dad came down on Friday. We met up with some families that were already there and had a lovely dinner with them! It was so wonderful to see the people I had met last year in Florida and to meet the families that I didn't get to meet last year!

On Friday we went downtown to Faniel Hall and Quincy Market..where my mamma ordered some Chowda and I tried it even though I hate pretty much everything that comes out of the water! I have to admit that fresh Chowda is a lot better then the crap we have here! haha We had a lovely day..it didn't rain..we saw some street performers and Kate and Emma were with us! When we returned to the hotel it was almost time for the meet and greet to start! Very exciting! Almost everyone going to the conference arrived at the meet and greet at some point. We reconnected with many friends..including Sammie..who was either really excited to see Joseph or thought he was looking into a mirror! Probably one of the cutest moments between children that I've ever seen!

We all got up early Saturday morning because the conference started at 8am! We didn't mind though because we knew there was lots to do and lots to learn!

Our first speaker was Dr. Cody PhD in Human Genetics. Her own daughter is diagnosed with - 18q. She started a Charitable Organization for all 18q chromosome anomalies and has been successful in raising money for research and support! It was very exciting to listen to her and I know she got a few of us ready to start really working on our own 1p36 organization. It has taken many many years and lots of hard work for her to get the organization where it is but I know that we have a lot of dedicated parents ready to contribute to our own organization! Myself being one of them! Check our the 18q website at http://www.chromosome18.org/

Our second speaker was Dr. Shaffer. She has been studying 1p36 Deletion Syndrome for some time and has probably published or is at least mentioned in almost everything you can find about 1p36! She is a wealth of information on genetics, chromosomes and 1p36. I learned soooo much from her at the first conference that I had forgotten from my Human Biology class! I was glad to have Sammie's dad, Grammy and Aunt there to hear her educational information! Of course my sister is studying to be a nurse so she was familiar with most of it!

The third speaker was Dr. Perszyk from Florida. He is a geneticist and has been taking care of a friend of ours named Abbie! He was also at he first conference and took down some data on each child to try to put together a growth chart for our little ones. Most of them don't get close to the normal curve for many many years as far as growth.

After the conference ended we all tried to figure out the best way to make a 1p36 non-profit organization and people had wonderful ideas! I'm happy to report that the process is still going on! We are narrowing down a name for our group and then we will start in the rest of the important stuff! We also came up with places for the 3rd Annual 1p36 Conference and I believe that it will be in Indianapolis next year! My sister has already said she will visit her doctor for some Zanax because she hates to fly but would not miss it for the world!!

I already miss my 1p36 family and can't wait for next year!

Extra hugs please...

2008-09-07T09:10:00.000-07:00

Everyday I see people take life for granted..it's natural I suppose. We don't really think about death unless faced with it...a way to keep us sain I suppose. But, when we are reminded that our visit here on Earth will not last forever I think it is important to recognize that.

A 1p36 family friend has lost their little angel. She was only 6 years old. I ask that you hug the ones you love and tell them that you love them. And pray for the family of Annette.

In one week's time..

2008-08-19T10:54:00.000-07:00

As many of you know I am part of the 1p36 Deletion Syndrome yahoo group. It has been my lifesaver and saving grace almost everyday since I found it! There are some truly amazing and inspiring people on that site and I just wanted to share a bit about it.

I try to check the yahoo group everyday..I usually don't go two days without looking at it. I don't always have time to respond to some of the topics that are being shared but I do try because I appreciate it when the other parents respond to my posts. I have read soooo much about the other kiddos and their families. It's a group that I can share anything and everything about my little Sammie with and they have either gone through it or have some incredible advice about how to get through it.

Some weeks I am overwhelmingly reminded of how important the group is to me and the other members. Just in the last seven days..one mother reported her little peanut is seizure free! How exciting that is! I would venture to say that 100% of the people I know are terrified of the thought of someone having a seizure, myself included. There is nothing like being told your baby is seizure free. As the parent you are absolutely helpless in the sense that there is really nothing you can do for your child except wait. Another mother told us her story about her last days with her girl. I cried my eyes out on Sunday reading about her and her daughters struggles during her last months. How to respond to this? I can't possibly begin to imagine what it's like to lose a child and hope to NEVER be in that position. Another mother told about an upcoming surgery on her little one's spine that is very risky but must happen sooner that later. Another was writing about her 20 month old not being within the growth charts..something my Sammie has never been in either! And another was telling us about her little one's Cardiac issues. Of course there is always good news on the site to! But some weeks are much more medically busy then others.

And I sit back and think how darn lucky I am. My little Sammie is plugging away right now without any major concerns at the moment...phew! I send my thoughts and prayers out to my yahoo people everyday. And I am reminded to take life one day at a time and enjoy all the happy moments.

There are no other people in my life like the people on the yahoo group. They are my people...the one's that know everything about my struggles and triumphs as a parent with a child with 1p36... I can't wait to see them again!

Fish & Chips

2008-08-06T20:24:00.000-07:00

A week and a year ago I was in Boston with my little guy nervously awaiting the early morning hours of August 14th. That's the day Samuel's Open-heart surgery was scheduled for.

The week prior to the that was an interesting one to say the least. I work at a restaurant called Geoffrey's Pub & Restaurant and one of my best friends (who was also my boss!) took 8 weeks off for maternity leave so there I was for 8 weeks trying to act like the manager and a server. I won't go into details but lets just say I was drowning in stress!

My co-workers all knew that it was almost time for Sammie to have his surgery and they were all sympathetic and wonderful. I couldn't have asked for better people to be surrounded by.

There is this one night that sticks out in my mind....

It was one of the last nights I worked before Sammie's surgery. It was a pretty busy night and I was in the office doing all the paper work that I didn't get to earlier in the week because I was also waitressing at the time. One of my good friends/servers came into the office to let me know that she had a complaint. I asked what the situation was and she had offered the "free dessert" we offer first and the lady said no thanks. I asked the server if the lady was upset and she said "no I think she just wanted to say that it wasn't as good as last time". The lady had ordered our Fish & Chips. Now I hate fish and have never eaten it in my life. But, I have worked at the Pub for 4 years now and that is the most popular plate on the menu. People rave about it and I can honestly say that I have NEVER had a complaint about it. To make a long story short...I was at the computer helping another server with a computer issue and suddenly this lady starts yelling "ARE YOU THE MANAGER?!!!" Of course I turned around with a stunned look on my face and quietly said yes. I walked over to her because the place was full and now everyone is starring at us! It was the Fish & Chips lady...but I didn't know this cause I never saw her. She continued to scream at me about her Fish & Chips and that I should have given it to her for free. We went back and forth about what the server did/said and it all matched up. I told her that I didn't come to the table because I discussed it with the server and I decided that she wasn't upset she was just "letting us know" it wasn't as good. She had me pinned against one of the booths as she continued to scream at me and then she started pointing her finger in my face. From that point on I was no longer listening to her. Over and over and over again in my mind I kept saying touch me one time lady...one time..and it's self-defense! I kept envisioning doing a spinning side kick right into her Solar Plex. knocking the wind out of her and sending her across the room. Touch me one time.....it didn't happen.

Now I would say that I am not a violent person. I have never started a fight. I've trained in martial arts more than half my life and understand (no matter what my ex says!) that I have an advantage over some! But really..I wanted nothing more than to send this woman across the room. She was tearing into me in front of her own children about Fish & Chips and after a while of being yelled at I started getting defensive, not yelling but standing my ground. All the while I'm thinking look at this lady....I'm leaving for Boston so my son can have open-heart surgery and this lady is all distraught about Fish & Chips....I should say something..I should tell I don't care about her damn Fish & Chips and then tell her why....F*ck your Fish & Chips lady! Of course I only said that in my head cause I did need my job back once I returned from Boston! I just couldn't believe it. I would/will never get that upset about food unless I'm starving and I mean starving like to the point I might actually die of starvation. It's Fish & Chips lady! The best part about it is that she ate every last morsel on her plate. She stomped out of the restaurant screaming that she would never come back and I quietly screamed back good! A couple of weeks ago I saw her at the Pub again. The weird thing was we met each other coming up the stairs and I just starred at her. I couldn't believe it...that b*tch came back. I really had to hold my tongue. I wanted to ask her if she remembered me..and I wanted to tell her that I left Plattsburgh a couple of days after that for Boston. I was/still am curious about whether or not she would feel like an ass!?!?! Oh well!

The Fish & Chips were soon forgotten as we packed for Boston. We flew down. We got there 2 days early. The first night we didn't do much. The second day we had to go to the hospital to do all the pre-op stuff. And yes that took alllllllllll day. There were so many doctors, tests, questions, answers. We had lots of family support...thank god. So we went out to eat that night because I knew we probably wouldn't eat the next day. At this point I'm not sure that I was even sleeping. I mean I layed down and shut my eyes at night but my mind was racing. I told Steve to bring his Xanex (sp?) because I wasn't sure I could handle it.

So then it was surgery day. He got all his kisses from the family and then Steve and I were allowed to go into pre-op with him. They had us dress him in these pj's that were made for a 3 year old (he was 10 months old at the time). And then they asked us if we wanted his stuffed animal to go with him so he wouldn't be alone..and then I saw the Anaesthesiologist that we had met the day before and I knew it was time. I wanted to say something, I wanted to change my mind, I wanted to grab him and run out of there as fast as I could, but this was reality and he had to have the surgery. They took him and I said please please please take care of my baby. I'm not sure really how many times I said please and then we were escorted to the waiting area where all our family was and I just cried and thought about puking but didn't.

Four and a half hours. They called us to tell us when he was put on by-pass, called us I think one time during the procedure and then when they took him off the by-pass. And then we had to wait another 30 or so minutes to get him cleaned up and to the critical care floor. I'm not sure a day has been longer for me. The next week was the most intense I hope to experience in my life. I have lost people close to me but the couple of incidents Samuel had were the most devastating times I have experienced in my life. The feeling is indescribable when your child codes and you witness doctors and nurses running to your helpless child.

And yet there are people in the world who go crazy in the brain over Fish & Chips. I have learned five lifetimes of compassion, courage, empathy, understanding, patients, and optimism from my Samuel. I would never wish what he has gone through on any child. And I know that there are children who go through and have it much worse and yes some that don't make it. Most people haven't experienced life on the Cardiac Critical Care Unit at Boston's Children's Hospital because if they had then their definition of "problems, issues, and struggles" would change. Some of the children on that floor had been there since the day they were born and some were never going to leave. How could I as a human continue to think my trivial "problems" were really relative?

I try to take things in stride and yes I get frustrated and discouraged but I always gauge it....is this really a big deal? Come on Shannon...does this possibly compare? I am always accused of being happy-go -lucky...I couldn't tell you how many times people have told me that not everyone is as optimistic as I am. Almost like they're accusing me of being bad in some way. And I try to share my story..I try to tell people so that they themselves do no become the Fish & Chips lady. I am not at all saying that peoples "problems" are trivial..certainly not. We were all given/learned certain tools and I understand we all cope differently but next time you see yourself becoming Fish & Chips lady please remember that you have NO IDEA what is going on in that persons life. Remember it's only Fish & Chips...it's not Open-Heart Surgery!

1P36 Deletion Syndrome Fund!

2008-07-18T09:52:00.000-07:00

Dear Friends,
As some of you know, my 20 month old son, Samuel, has a rare genetic disorder called 1P36 Deletion Syndrome or Monosomy 1P36. This genetic anomaly is present in only 1 in every 5000-10,000 births and affects every aspect of my son's life.

Samuel's congential heart defects, Dilated Cardiomyopathy, Ventricular Septal Defect (VSD), and Atrial Septal Defect (ASD) are secondary to his 1P36 diagnosis. Samuel had a successful open-heart surgery last August to repair the VSD and ASD. However, the Cardiomyopathy is a defect that will require several heart medications and echocardiograms for the rest of his life. He is seen by six specialists and several therapists to help him progress and stay healthy.

1P36 Deletion Syndrome was diagnosed only about 10 years ago and very little is known about its causes and means of treatment. Families affected by it are spread far and wide. To help each other, we have formed an internet-based support group to share knowledge and assist those affected by this syndrome.

In order to further research and discover better ways to help affected children, our support group has recently formed a non-profit organization called the 1P36 Deletion Syndrome Fund. Contributions to this fund are 100% dedicated to improving life for these special children and raising public awareness about the sydrome. There is no overhead for administration since the fund is managed by 1P36 parents who volunteer their time. The fund also helps sponsor an annual conference for healthcare providers, therapists, and 1P36 families to meet and learn more about caring for those with the disorder.

If you would like to make a tax deductible contribution to the 1P36 Deletion Syndrome Fund please contact me via email shayrenee@hotmail.com or call me at (518) 420-4371. To learn more about 1P36 Deletion Syndrome please visit 1p36.com. Or if you would like to learn more about my son Samuel's experiences and progress, visit my blog at http://samuelbartlett.blogspot.com
Thank you for making a differnce!
Shannon Bartlett
Proud Mommy of a 1P36 Deletion Child
You can also send donations to me at
12 MacDonough Street Apt. 4
Plattsburgh, NY 12901

Also wanted to mention that my mother (Diane) and sister Andrea are putting together a bake sale to help raise funds! It will be August 1st starting at 8:00am at Chittenden Bank in Newport, Vermont!! Please go down and buy some goodies! I promise it will be yummy!

Please make checks payable to 1P36 Deletion Syndrome Fund

Hearing

2008-07-14T11:43:00.000-07:00

hmmmmmm
I was hoping that this could be one issue that my little peanut would be able to avoid but it turns out that he doesn't want to be left out of anything!

He had another hearing test today and failed in both ears. So now we will see his Pediatrician tomorrow afternoon to get an appointment to have an ABR (Auditory Brainstem Response) done at Fletcher Allen. He will be sedated for this test. I totally stole the following from some website!!!

Tiny earphones are placed in the ear canals. Usually, click-type sounds are introduced through the earphones, and electrodes measure the hearing nerve's response to the sounds. A computer averages these responses and displays waveforms. Because there are characteristic waveforms for normal hearing in portions of the speech range, a normal ABR can predict fairly well that a baby's hearing is normal in that part of the range. An abnormal ABR may be due to hearing loss, but it may also be due to some medical problems or measurement difficulties.

She already told us that he will probably have hearing aides. Something new to learn about and take care of!

Having a child with disabilities..

2008-07-13T20:31:00.000-07:00

First let me state that the title is loaded.. of course I guess there is a definition somewhere of what it means to be disabled. I know what disabled means but the word can carry many meanings and even people with the same disabilities are different from each other. I'm not gonna lie...before Sammie was brought into my life I guess I kinda thought all people with Down's Syndrome were the same. Not that it was something I thought about often but when I would see someone with Down's I sorta unconsciously put them in the same "group". I guess that could sound awful to some people. Let me also apologize for thinking that way and let you all know that I have since been enlightened!

I can't really say for sure what it's like to have a child with disabilities. After all, Sammie is only 20 months old and we have a lifetime of stuff to go through before I could really elaborate on this topic. But I can tell you what it's been like thus far. Really I should be going to sleep!

Sammie's father (Steve) and I are separated. Don't feel bad! It has been a blessing! We split for our own reasons but the truth is we are still friends and will always be partners in raising Sammie. It's also a blessing because we get breaks! I know that might sound awful but the truth is that sometimes it's tiring doing all the stuff we do for Sammie, his sister Darby, our jobs and all the other things life comes with!

Each morning Sammie wakes us up...and so the day begins. He is usually in a very happy mood when he gets up! I myself have always been a happy morning person! So we come out into the living room and of course he needs to be changed first thing. Then I put him in his high-chair and give him some cereal puffs to eat while I measure out his medications. I'm a tiny bit OCD so I always do it the same. First the .7mls of digoxin, I usually give that to him right away..well unless his mouth is full of cereal puffs! The I put the Prevacid solutab in the medicine dropper and add 5 mls of water to dissolve it. This is sometimes a pain because he doesn't drink water and so sometimes if I put to much he chokes a bit. :( As I'm giving him that I split the 2.5 mg Enalapril pill (half twice a day!) and crush it. I usually try to mix it with baby prunes to help keep the little guy regular! He doesn't really like any of the above occurrences but you know he never cries about it. He is such a trooper. Then I give him his breakfast. He loves eggs and bananas and cheese for breakfast. At his dads house I think he eats donuts most days!

Then we chill for a bit and depending on the day he has Physical Therapy at 8am. I think its usually Tues and Thurs. I still write them all done on my calendar cause we do a lot! Speech therapy is usually between 9 and 11 twice a week. We do lots of work and lots of play! Most of the time he tolerates these therapies but of course we all have a moody day once in a while.

He takes his Carvedilol at around 11-12 each day. This one has to be given at least 2 hours after the Enalapril so it all depends on what time he had his morning meds. Somewhere in this time he will eat then nap or nap then eat lunch! We're giving him big people food now! Very exciting! I still buy the baby snacks and stuff cause they're soft and easy to chew. So he can eat anything that we can cut with a fork. I always try to make it high calorie cause he is a tiny peanut!

Lately we have been going to the beach and of course there are always errands to run and things to do. Then of course depending on the day he might have Occupational Therapy (always in the afternoon, once a week) or Special Instruction (always in the afternoon also, twice a week). We usually have Mondays free of all these therapies...which is nice cause that is usually my one day off from work! Then again tomorrows Monday and we have to go see the Audiologist...darn. The doctor visits are fewer but we go to Burlington at least twice a month and we see his regular doc probably once a month.

So I go to work at 5 everyday except Thursdays (I go in at 4). Steve picks up where I left off cause that's what time he finishes his work day. Sammie has to have all the same medications at dinner that he had with breakfast. I'm not sure what those boys do but I imagine it's a lot like what we do! When I have Sammie for the night I pick him up around 10:30pm but it's been a bit later sometimes cause it's summer and I work at a restaurant and people come in 15 minutes before we close....JERKS! It never fails that he wakes up when I pull into my driveway. Sometimes he goes right back to sleep and other times he wants to stay up and party! That's the term I use to keep me sane and pretend like I'm having a good time! haha He is a pretty good sleeper and most of the time will sleep through the night! We still have our nights that we party alllllll night long though!

We repeat this everyday! But you know what it doesn't matter cause it's normal. I remember coming home from the hospital with pages of instructions about medications, dosages, feedings and on and on and thinking we'll never get this right. Now it's life and it's simple and it's what we do. I never even think about it really. I never think about it as different from the norm. It's just what we do. And when I chat with his therapists I realize it's what a lot of people do and we have it soooo much easier than a lot of people.

I really need to go to bed!

Neo-Natal clinic is over!

2008-07-07T16:34:00.000-07:00

Sammie is being followed by numerous specialists but I am happy to announce that we will no longer be seeing the Neo-Natal Physician! We love love love her and her nurse Nichole but she feels comfortable letting the rest of the team take over! Honestly I believe most of her patients are premature babies (Sammie was only 4 weeks early) but she was on the NICU floor most days that he was there and she, along with everyone else wanted as many eyes on him as possible when he finally left the hospital.

We've seen her every couple of months for the past 20 months and she has done a lot to help us get some weight on our little guy! She also helped us and all his doctors get on the same page and going in the same direction for Sammie's care.

I am sad that we won't see her (I'm sure we will run into her at the Children's Hospital at some point!) I must admit that I am somewhat attached to Sammie's doctors and therapists! But, I am happy that we will have less doctors visits! Even though she doesn't read this we are sending out a huge huge Thank you and hugs from everyone in Sammie's family!

Family

2008-06-29T20:52:00.000-07:00

The word family has taken on a hole new meaning for me.

The entire family knew about the heart problems that Samuel was going to be born with. Of course we didn't completely understand it but it didn't matter because we were all in it together from the beginning. Now I know that families sometimes have their problems and of course mine is no different but in the last 2 years I have seen love like I have never seen.

From the beginning there was always someone from my family by my side. The first hospitalization, the second, ultra-sounds, echos, an ungodly amount of appointments. In fact, the only reason no one was there during our first Boston visit was because Lynn was having her baby, Owen! But I know if she could have been there she would have been there! I went to Boston on Thursday for a Friday morning appointment. After seeing the Cardiologists at Children's they said we could wait two more weeks. I called my mom and the phone tree began. A couple of hours later I called her to say there had been a change in plans and they were going to start inducing that night.

Without hesitation, my dad, sister Lynn, her husband Phil, my Grammy, and mother-in-law Diane all got in the vehicle and started the 4 1/2 hour trip to Boston. I know the rules in every hospital are different. At Bringham & Women's the rules are that only the 2 people that will be there for the delivery can be in the room. So my family sat in the hospital lobby for 3 days waiting for Samuel's arrival. Sunday afternoon the doctors told me that there was no way Samuel was coming that night...in fact he probably wouldn't be here till Tuesday (just what I wanted to hear!). So my family decided that had to go back home. Mind you, Lynn had just had a baby two months prior and he had his own heart issues going on. They left Boston at about 5:30 pm...I called them at 8:00pm to tell them he had come! We made this joke that he wanted to be alone with his mommy and daddy!

So the next morning Steve's dad and Darby (Sammie's sister) came by for a visit and a couple of days later my sister Andrea, her fiance Joel, my mom and step-father came for a visit. They all spent a couple of days there with me, taking care of me and doing what they could for Samuel. When Samuel was transferred to Fletcher Allen in Vermont he had visitors at least twice a week and every weekend. Cousins, Aunts, Uncles, Grammies, Grandpas, Memeres, friends of all the family and of course us!

When Sammie had his heart cath they all came down to the hospital for the day with us and didn't leave until he was released. When he had his open-heart surgery people actually took turns sleeping on the floor of the hotel so they could be there for him and us. They continue to involve themselves in all aspects of Sammie's life and I welcome that with open arms. What more could I ask for than to have the most supportive and loving family?

History continued..

2008-06-16T07:01:00.000-07:00

We spent a week at Children's Hospital in Boston. Fortunately Samuel was stable and appeared to be doing well considering his heart was sick. The doctors had suspected that his heart problems stemmed from something genetic but it would be a few weeks before we had the results. After no alarms the entire week at Children's the doctors felt comfortable transporting Samuel to Fletcher Allen so that we could be closer to home.

Samuel was taken by ambulance from Boston to Northern Vermont...probably the second hardest moment of my life. I can't explain what it's like to have a baby that you know is going to be sick and then you spend every minute of his first week with him...because you love him and because your scared he might not survive and then the EMT's come to pick him up for a 4 and 1/2 hour drive that you don't get to be with him. I remember I told them to take care of my baby and that I would be right behind them. I cried almost the entire ride....I called my sister Lynn who had to make the same trip (in the opposite direction) just a couple of months earlier with her newborn (only her little peanut was airlifted) and I couldn't even talk to her but she knew how I felt in that moment and I just needed her to tell me it was ok to cry the entire way!

We made it to Fletcher Allen where he was admitted to the NICU and for the first time in a week I wasn't allowed to spend the night with my baby. There is no room at the hospital and so I went to the Ronald McDonald House down the street. I was pretty devastated but as I look back that was probably the first night I slept any amount of time since Samuel was born. Anyone who has slept in a hospital knows that you don't sleep. There are so many machines, alarms, nurses, doctors, and of course feedings and changings!

After a couple of days in Burlington I started to recognize some of the other parents. They were also staying at the Ronald McDonald house. Finally we started chatting and sharing our stories. These people helped me stay strong and get through some rough times! Cindy and her mom Judy were there for Cindy's twins, Caitlyn and Rachel, born at 29 weeks. They were born the day after Samuel! I spent every moment I had with my little Samuel. I bathed him, changed him, fed him, read to him (I was reading a book called The Brothers Bulger about some mafia people!) I haven't finished that book...actually haven't touched it since we left the hospital. It was a great book but some things just trigger certain memories that I have put in a certain file and don't want to look into for a while. That book is one of them.

My days became a blur and I didn't really know what day it was one day till the next. What I did know was how much Sammie weighed, what he took in for the day, how much output he had for the day, what his temperature was, what his blood pressure level was, what his heart rate was, what his O2 level was, who his doctors and nurses were, what medications he was taking, what medications they were thinking about trying, what his bilirubin level was, what was for lunch in the cafeteria, when Steve and Darby were going to come for their next visit, you know all those things that I had never thought about before.

I arrived bright and early one morning and when I rounded Sammie's incubator I noticed a tube in his nose. Right before I could panic the nurse said "it's only and NG tube". A what??? A Nasogastric tube, inserted into the nose, past the throat and down into his tummy. But why? During the night hours they had decided that his heart was too weak to eat all he should be eating by mouth. Eating for a baby is much like a work out. The "typical" child can easily suck down a bottle in about 10 minutes. My poor little peanut was taking about 30 minutes and still not finishing his meal. This was a lot of pressure on his tiny, already stressed out heart. So the tube was put in to help him gain weight without working him to hard. They also started putting a nasal cannula on him when he was eating because they thought his O2 level was going down some while he ate.

That's when the feeding team started visiting. Learning to eat is a huge process for some little babies! Suck, swallow, breath..suck, swallow, breath....K Shannon, now you breath. Every time I fed Sammie I would watch closely to make sure that he would suck, swallow, then breath. Some babies forget to breath and they have to be taught how to do so. Sammie didn't have a "huge" problem with this but problem enough that we payed close attention every time we fed him.

During all of this we still didn't know why his heart was so sick. He seemed to be plugging along and he was stable but there were no answers. I don't think the doctors thought he would make it very long and every one that came to visit thought he looked sick...for some reason I thought he looked fine. I mean all the babies in the NICU are so small and frail looking. I hadn't been staring at any "healthy" kids! Finally one night a group of doctors came into the NICU and I could see them whispering and looking in my direction. I thought "there is news of some sort". We had briefly discussed what goes into getting a child on the transplant list and I thought for sure that they were going to tell me that they wanted to start that process. So I sort a prepared myself for that conversation.

One of the docs came over and asked where Steve was (my husband at the time). I said he was home and he would be back on Friday. I think it was Wednesday... she said she had received the genetic testing results from the amnio done in Boston and wanted to discuss them, but she thought she should wait till Friday when Steve would be there. I said absolutely not...if you have new information then I want it now. So the Geneticist, the Resident, and the Intern brought down the one of the Ronald McDonald rooms on the pediatric floor to tell me what was wrong with my baby. Dr. Burke said "he has 1p36 Deletion Syndrome"....I was like ok, uh what the hell is that? She proceeded to tell me what she knew about it and had some information with her that she had printed off the Internet. She went into some of the medical issues that 1p36 caused and his heart issues were secondary to the syndrome.....wait, wait, wait ok so his heart problems are because of the syndrome..so some information is missing and so what's the prognosis? Is he going to live? I didn't care about the rest of the stuff she was telling me. I just wanted her to tell me that my little Sammie was going to live. The Geneticist told me that she couldn't tell me if he was going to live or not. He was weak and sick. She told me the Cardiologist was still really concerned about his heart.

Then I asked who else has this? Can I meet another family and see what they're going through? Can you contact someone? She said that Samuel was her only patient. There was no one else. WOW...at this point I'm just flooded with emotions and just crying, in a small room, with people I don't know. I knew my husband wasn't home because he had to go to Darby's chorus concert so I called my sister Lynn. I told her everything the doctor told me...there was no cure, no way to fix this problem. My little baby was going to be sick forever. Of course my perspective has since changed but in that moment that's what I thought.

Once there was a diagnosis there was really no need to stay at the hospital anymore. So they started planning his discharge. Making sure we could get all of his compounds and other medications at a local drug store. Here in Plattsburgh there is only one pharmacy that makes compounds. Setting up an appointment with his pediatrician, who hadn't even met him, as soon as we got back to Plattsburgh, setting up appointments for a VNA and early intervention..mind you I had no idea what either of those things were. All I knew was there were going to be a lot of people coming to my house. Samuel was sent home with an NG tube so they taught Steve and I how to replace that because they can slide out easily. I remember them telling us we could take him to the ER and just let them know we needed them to replace it if we were not comfortable doing it ourselves. If you miss and put the tube into the baby's lungs instead of his belly and send all that liquid straight to his lungs that becomes a major medical problem. Somehow though we managed. I would hold Samuel down and cry with him as Steve slowly inserted the tube through his nose, down his throat, into his belly.

It was all overwhelming but then we finally walked through our back door and relief set in for me. I hadn't been home in over a month. It was quiet..it was sort of unfamiliar. But I was happy to be there.

Update

2008-06-16T06:35:00.000-07:00

Hello all!
Just posting some updates about Sammie!
He has made so many gains in the past couple of months I can hardly believe it. First and foremost we have a pretty clean bill of health from the Cardiologist! Yahoo! We won't see her again for about 5 months which is a long stretch for us! There have been no changes since Sammie's last echo-cardiogram which is wonderful news and she also took him of his Lasix which is a HUGE step! Of course he is still on his heart medications and always will be but the good news is that they are doing there job and he is staying the same!

Sammie is growing slowly but he continues to gain weight. We are supplementing his nutrition with a couple of things including Pediasure and Carnation Instant Breakfast VHC. He has been eating great and tolerates most foods! He does not particularly like watermelon or peaches! He has started feeding himself..not with a spoon...with his hands. He will grab the food with his fist and maneuver it until he gets it in his mouth! A few times I have seen him grab his cereal puffs using his fingers so we know he can do it it's just a matter of time and practice. He is still a little peanut but he's plugging away day by day!

He has started to show interest in certain toys. If we put him on the floor with the toys he likes he will focus on them and play with them. If they end up out of his reach he will try to figure out how to get to them and even rolls over if he thinks that will help! He loves his exersaucer and needs his fix of it a few times a day!

He has gotten sooo much stronger. People who haven't seen him in a while are always commenting on how much better his control has gotten!
He still isn't talking but he has said mama, what, and more! Not consistently but they have been duly noted! He certainly communications with us using different cries and when you ask him are you hungry he will stop crying and smile or laugh! So we know the communication is there we just have to get it out of him! We are still working with sign and he watches his video and loves it! Well he loves the cartoon frog anyway! haha

He has a Special Education Teacher Miss Crystal that comes twice a week and plays/works with Sammie! We love her and she has been a wonderful addition to Sammie's team!
He did have an EEG done and I have called twice for the results but no response (I think the dude answering the phones is a ding-dong!). But no news from the docs is good news so we will leave it at that!

He saw the eye doctor again and she thinks he is doing fine. We know he can see and his visual tracking has steadily improved. He is delayed but we know that is because of the 1p36. We probably won't know what he can see until he is old enough to tell us!
My only concern right now is that he is getting over his second ear infection this year. The kiddos with 1p36 seem to have small ear canals and lots of ear infections. A lot of them have tubes put in and we have not discussed that with his Pediatrician but I know she considers it if they have 3 or more in a year. So we will wait and see on that and hope that he doesn't have another one!

We truly feel blessed for all the wonderful people in his life who make a huge difference!

Coming home..

2008-03-25T10:24:00.000-07:00

Our History:
Samuel was born on October 22, 2006 but his story begins way before that.
I was so excited to find out I was pregnant! After confirming I was indeed pregnant I started visiting the OBGYN. The first ultra-sound done indicated that his heart rate was 194. This was high but I was also only 8 or so weeks pregnant and there was no concern at that point. I returned a couple weeks later and his heart rate was 210. I can vividly remember the doctors response. "hmmm..that's high." I asked, "what is normal?" "oh between 120 and 160." "OK..so now what?" The doc said "well now I call Fletcher Allen (the bigger hospital across the lake) and they tell me what they want me to do."

So I left the office and on my way home he called me to tell me that Fletcher Allen wanted to see me that week. Even then I wasn't overly concerned. I myself had some heart issues and I thought that my baby must be going through what I went through. After months of visiting Fletcher Allen weekly and also visiting the docotors office here in Plattsburgh twice a week, no one could tell me what was wrong or why it was wrong. All we knew for sure was that the baby's heart rate was to high and his heart was not squeezing properly. They hospitalized me a couple of times to give me heart medications in hopes that they would reach the baby to help slow his heart rate down. He was developing ok. He was little but growing. I can remember hours of rubbing my belly and telling the little baby that it was ok...I'm not worried...I know he was going to be ok.

I visited Boston for another appointment and the cardiologist said he didn't mind waiting another week or two to deliver but when I went to see the OBGYN she informed me that it was in the babys best interest if she induced me today. In that moment it all became real for me. Till this point little Sammie had been safe in my belly and now they wanted him out. I remember the concern in her face. Most women are probably excited to meet their baby...I was to but I was more scared that he wouldn't survive out of the womb.

I never took any of the classes you take when your pregnant. I new I wasn't having my baby at that local hospital and I didn't care to see all the other mom and dads and their happy faces. I don't know how many times I had to explain there was something wrong or how many times people told me not to worry. Haha..I don't say that to people anymore. I often times thought people didn't believe me. Like maybe I was making it all up for attention. I was fine. Everyone could see that so how could my baby be so sick?

His due date was November 16, 2006 and I knew my family and friends were wanting to plan the babyshower. I told them I didn't want it until he got here. Some thought I was crazy but you have to remember that we were told there was a strong possiblity that he wouldn't survive. How could I come home to all that stuff without my baby? That was one of the choices I made for myself and my own sanity. We bought a few things and my sisters bought the crib and that was enough.

After three long days of being induced he finally arrived! It happend so fast. One second it was just Steve and I in the room and next thing I know there are OB doctors, nurses, NICU nurses, and Cardiologists all there watching the show! Samuel came quickly..and I remember thinking don't be upset when they just take him..they have to save him. Then I heard his cry! I still couldn't see him but I looked at the nurse and said "you can't cry without oxygen" she reassured me "no you can't..he's breathing!" My favorite two words for the rest of my life. The NICU nurses took him and did all the things they needed to do and then the OB nurse asked the cardiologist if I could hold him. He said "for a few seconds." That's all I needed..just long enough to give him his first kiss and hug and tell him in person that I love him. And then they took him.