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!
Wednesday, November 19, 2008
Sunday, November 9, 2008
Another day in the life of...
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!
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!
Tuesday, October 21, 2008
Sending Love..
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 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..."
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?!
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?!
Saturday, October 11, 2008
Just some news...
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!
Wednesday, September 17, 2008
2008 1P36 Deletion Syndrome Conference!
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!
Sunday, September 7, 2008
Extra hugs please...
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.
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.
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