Idiopathic - A disease with unknown pathogenesis or apparent spontaneous origin.
Infantile - Affecting an Infant.
Arterial - Involving the blood vessels that carry blood away from the heart.
Calcification - The accumulation of calcium salts in a body tissue. It normally occurs in the formation of bone, but calcium can be deposited abnormally in soft tissue, causing it to harden.
The best way for me to understand it is to think of the calcification as ice. Ice that formed over his arteries causing them to harden overtime until they were unable to function leading to the inetivable. How I understand it from the point of this disease is that the chromosomes that were responsible for contoling this calcification were not formed as they should have been - due to the genes he received from myself and Justin at conception.
IIAC is a Autosomal Recessive disease. This means Justin and I both carry an autosomal recessive change (mutation) in our genes. We are uneffected carriers which means we are perfectly not affected by this and until now had no idea about any of it. We have a 1 in 4 chance of passing both of the malfunctioning genes each time we concieve which would result in our potential child developing the disease and in that case would most likely have the same fate as Liam. We have a 2 in 4 chance of passing one abnormal gene making our potential child an uneffected carrier (like us). We also have a 1 in 4 chance of not passing the mutated gene at all and having a potential 100% unaffected child.
More simply put - Here's a diagram to break it down further.
I know thats alot to take in, understand, and accept.
After meeting with a genetic counselor and waiting months to get a straight answer, we finally have all the pieces of the puzzle. Im honestly going to try and make this as easy as possible to understand. I barely have my head wrapped around all of the terms and meanings and Ive done hours of extensive research and genetic counseling.
A miccroray test showed that Liam had a deletion and duplication on chromosome 14- But - this deletion/duplication has never been related to any previous case of IIAC or anything else that has ever been documented. This was REALLY frustrating for us. They still said Liam passed away from having IIAC, and that he got it from us, but yet, there didnt seem to be any proof other than the calcification they found in his arteries after his passing and the lack of any other guesses. However, we kept trying and found that somehow some of Liam's DNA was secured in a lab from one of his previous tests or autopsy. Thankfully it was enough for DNA sequencing which will allow them to look in more detail at his DNA. This was a miracle.
The DNA sequencing did show the original deletion and duplication on Chromosome 14 as the microrray but also showed an additional change in a different chromosome that IS known to coinside with IIAC. So, In summary, Liam had the change in one of his genes that caused the disease that did come from us. The other change with Chromosome 14 is unrelated. Our genetic counselor reassured us that many people have different changes in their DNA that doesnt affect them at all and are never even identified, and that we shouldnt be overly concerned with the change in Chromosome 14 considering it may never even reoccur.
The change that they found that supported his diagnosis however was the concrete proof that we needed to know to move forward. They also looked and my and Justin's blood and they confirmed the changes we have in both of us that were passed on to Liam. So finally all the peices of the puzzle fit and I can finally have a little trust in our medical field again.
So, Next question, WHAT. DO. WE. DO. NOW.
The reason why we continued to sit in this "in between" limbo and go through all of this testing is so we could find out what our realistic choices for a future were. Without knowing the specific genes that were affected in Liam, we wouldnt know what caused it. If we didnt know what caused it, we wouldnt know what to look for to test prenatally in future pregnancies. We did all of the regular tesing and screenings with Liam during pregnancy and after he was born and nothing ever came up. At least now we know our options and what to test for specifically in the future.
We cant go through IVF, or a surrogate unless we used a donor for either the sperm or eggs. Neither of us want to do that at this time. We could do a Pre-implantation genetic diagnosis by in vitro fertilization (IVF PGD). They would look at all of the possible embryos and only implant the ones without any chromosome abnormalties and we would just hope that one of them stick. The good news is it would almost garuntee that we have a healthy baby, but the chances of even getting pregnant let alone have a successful pregnancy with IVF is less than about 50% and it would still cost over $10, 000.00. We have at least a 75% success rate trying naturally. We now know we can do specific genetic testing while Im pregnant at around 12-14 weeks to determine if the baby is healthy or if they have IIAC. But the fact that we may have to face the reality of another natural loss, an another affected baby, or the choice of even thinking about having to potentially "term" for medical reasons becasue of a disease that has no cure is completely devestatging. These are the risks that we are taking, heavily. This will be the wieght on our shoulders for months. I know it will definetely be some of the LONGEST days of my life. We are hoping and wishing and even trying to pray for the obvious the best case senario of getting pregnant, finding out the baby is negative for chromosome mutations and we could move forward with enjoying a normal pregnancy and evanutally welcoming a healthy baby!
I never expected to have to live through any of this sick twist of fate that was before me. I really thought we had it all figured out and would just live in our own little happy bubble. I ache every day for the son I dont get to have with me, here, in person to love, watch, and hold. I surround my self with so much of him, so I can always feel like hes near. I feel awful that his was the life he was born into when he deserved so much more. I hate that this happened to him. I hate there was nothing we could have done. Its made me question everything Ive ever believed in and I hate that nothing will ever be as good as it was. Even if we have more children, Life will be wonderful, but it will never have the innocense that it should. I still have such a desire to have a family. To have more babies. The amount of mixed feelings I have about the road that must be traveled to even try and pursue that dream is pysically and emotionally exhausting. Its also something, that again, I never thought I would have to go through.
I do have some bold good news to share. After months of tests, and discussions, Justin and I have decided to try again, in the future. This is very happy and exciting. And I am beyond thankful to have a such and amazing husband and best friend in life that could still be on the same page as I am when it comes to something to tragic, complex, and uncertain and still somehow have the strength to be open and suportive and also willing to try again. This decision was VERY hard. While Im so happy to share this with everyone, I do ask a few things.
PLEASE
Understand all of the risk that comes with this choice. I wont get a single glimpse of peace or assurance during any future pregnancy until the prenatal testing is done at the end of the first trimester. This will be 3 very challenging months. Please understand that.
This is in NO way a "pregnancy announcement". I will not announce any pregnancy until we do have a clear bill of health as a result of the prenatal testing that wont be done until the end of the first trimester. Please do not ask me if Im pregnant. Because - If im not, It will just make me even more sad that I'm not. And if I am, it will just make me upset that I cant share it, and worry about the "what ifs" all over again.
Please. Let me come to you.
We will be more than happy to share good news. Eventually. In the meantime, we are thankful that we still have so many that support and love us, We have our love for each other, a bond that is stronger than ever, and the most perfect beautiful little angel baby watching over us.
Always.
No comments:
Post a Comment