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
Friday, July 18, 2008
Monday, July 14, 2008
Hearing
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!
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!
Sunday, July 13, 2008
Having a child with disabilities..
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!
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!
Monday, July 7, 2008
Neo-Natal clinic is over!
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!
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!
Sunday, June 29, 2008
Family
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?
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?
Monday, June 16, 2008
History continued..
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.
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
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!
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!
Subscribe to:
Comments (Atom)