I realized my story of Scott and then some of the blog entries I have written give conflicting reports on what happened to Scott. so I thought I would share Scott's diagnosis or lack of diagnosis.
Scott's passing was very unexpected and we had no clue how sick he was( i don't even know if sick is the right word to use...but for lack of a better one) even when they decided to induce me. When they made the decision to induce me there was no urgency, no real concerns except that he may spend a few days in the hospital to develop his lungs more since he was only 37 weeks.
While Scott was alive he had test after test after test run on him. He was poked and prodded, scanned and everything else that no one should have to go through especially an infant. Scott had a genetics doctor trying to figure out what was going on. The thinking was it was most likely genetics.
The thing with genetics is that it takes a long time to get results in especially since his blood and bone marrow and skin samples were being sent all over the country to various genetic labs. When we were able to meet with the genetics doctor last August she only had some of results because she had called in the favor to on of the labs. ( I have mentioned how I loved the doctors Scott had?)
The labs that she did have back showed two indicators of something wrong with his genes. One was that he had mutated an extra chromosome. They can't say for sure but it was a very strong indicator that he would have been autistic. Being that there is still a lot to be learned about Autism they couldn't say for sure but they do know that some children with Autism have this extra chromosome. he could have mutated this on his own or one of us was the carrier of this chromosome.
We also found out that Scott's body was not making enough of the chemicals needed for the neurotransmitters of the brain to work. Hence why he was incapable of doing the basic things such as swallowing, gagging, crying, keeping his eyes open, moving his limbs. Because of this the doctor felt that it was likely that he had something called biopertin synthesis disorder. She believed it was a severe case of it. In some cases they can help the brain produce more of the chemical but in Scott's case it was not possible his numbers were too low. You need ranges of like 300-500 and he was 50. She of course couldn't say it was definite but she was confident that it was most likely this. but until more test results were in especially the one of the DNA. If this was the diagnosis it is a genetic disease were both parents have to be the carrier. We learned that all humans have 5-8 defective genes and it's a matter of them finding a mate who also has the same defective gene. talk about odds...we learned that it's a 1:4 chance that our kids would be born with this. No genetic testing early in the pregnancy would have picked up on this it's just not advanced enough. it would have happened early in the pregnancy as soon as the embryo was forming. It sucked to hear but it felt good to get a likely diagnosis. We were told the earliest we would hear from other results was November.
We contacted the doctor in later winter of this year and got the rest of the results. we were confident we were going to get confirmation of the disorder we heard about over the summer. But life likes to keep throwing curve balls so of course this was not the case. All genetic tests and dna results coming in were inconclusive to what the original labs were saying. So what does this mean? they have no diagnosis and probably never will. The doctor told Mike it could be genetics and medical technology just isn't advance enough to have picked up on it or it could have been a stroke. I so badly want it to be genetics because it breaks my heart even more thinking that if it were a stroke if I would have been induced days earlier he could be here today. Yes I know that there is know way of knowing that it was going to happen....but still having that knowledge is hard.
But in my opinion and my mom's intuition I think it is genetics. When I look back at my pregnancy Scott never really moved all that much. It was never to the point that it would cause concern but still....there is just other little things about my pregnancy that just make me wonder. I also had a miscarriage before Scott and I really and truly think my body is trying to tell me something.
We plan on sitting down with the doctor one last time. I"m ready now but Mike is still working up to it. We just want to know what they do know. We plan on asking what is it you can tell us and we would like his labs explained to us. We have chosen to store some of his blood so maybe in a few years they will have more advanced technology and maybe they can figure something out. This is one of the reasons I have become a supporter of March of Dimes because not only does it give me a way to celebrate my Scott but the fact that they support healthy babies and support research. I think it would be great if they can maybe one day come up with more advanced genetic testing for women and that maybe we can help in some way with these issues so that other families do not have to go through my hell.
Because we don't know what happened to Scott and we don't know if future babies would be at the same risks we have made the decision to not have anymore kids. I was and am very strong in dealing with what happened stronger than I ever thought I would be but I cannot go through this again and quite frankly to afraid to try again. it is a very hard pill to swallow and it just messes with you in many ways once you realize your out of the baby making business. The doctor did tells us we do have options we could do test in petri dishes to see if there would be a problem. But we feel it's not for us to go that route. We also know there is the option of adoption but we just also feel that is not for us. so I am finally coming to terms that Colin will be my only child and Mike is working up too it. This is why he is hesitant about seeing the doctor for one last meeting because he knows we will be hearing things that will make the decision final on choosing not to have more kids.
We are very fortunate to have Colin and we know we are very blessed to have him.
So that is Scott's lack of diagnosis maybe I will get some sort of answer when we do meet with the doctor. To have your baby be born in with a very serious medical condition after a "perfect" pregnancy, to see that your baby is the biggest yet the sickest in the NICU, to have him die, and then not have any sort of answers of why. It's tough and very hard thing to deal with.
I am so sorry that you have no real answers about what happened with Scott. To have things go so seemingly perfect and then end so tragically is just unfair. I also understand having the ability to make a child basically taken away from you as well. It is a hard pill to swallow. I am glad you have chosen to support the March of Dimes. We have done the same. I don't want another parent to live our hell either. In our case the monster prematurity stole our daughter from us and I don't want one other family to live that nightmare. I am glad that you found Share and I hope that you are finding some comfort here with all of us.
It is so hard to not know what happened and why. My daughter was over two years old before we got her diagnosis of 5p- syndrome. It was so hard to wait all that time, knowing something was wrong, but never knowing exactly what.
I definitely understand the very personal decision you made not to have any more children. It couldn't have been easy but you have to do what is right for your family.
Thinking of you,
March of Dimes fights for the health of all moms and babies. We're advocating for policies to protect them. We're working to radically improve the health care they receive. We're pioneering research to find solutions. We're empowering families with the knowledge and tools to have healthier pregnancies. By uniting communities, we're building a brighter future for us all.
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