We always knew our transplant baby was one-of-a-kind…but three-of-a-kind??

Haida Gwaii 2014-07-27 09-26-37

It’s been six months since we started down the genetics road and yesterday we met with our genetics counsellor at BC Children’s Hospital to go over the full McYong family genetics profile. As we found out a couple of months ago (previous post HERE), genetic screening on Addison’s DNA did find a mutation of significance, plus a couple of other variants of unknown significance.

Well turns out there are actually only three known cases worldwide of this particular MYH7 mutation causing non-compaction cardiomyopathy – one of them is Addison. The other two patients also needed heart transplants at a very young age. The gene itself is responsible for heart stuff so other mutations have been linked to other conditions…just not this particular mutation and this particular disease. Our genetics counsellor has already contacted the National Institutes of Health in the US and submitted the information so they can change the genome database to reflect this new information. Plus she wants to write a paper on these findings. We always knew Addison was blazing a new trail.

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As for Aaron and I, we have now confirmed we are not genetically responsible for our baby’s heart defect. We each have one or two of the variants of unknown significance that were passed down to Addison, but they don’t appear to be the culprit. It is possible these variants could magnify the MYH7 defect but science hasn’t gotten there yet. In the future who knows what we will learn?  Now our information will go into the ever-growing pool of genetic data and maybe one day there will be more answers.

So what does all this mean? When and if Addison decides to have a child, there will be some serious groundwork that will need to take place. She will have a 50/50 chance of passing this mutation on to her children. It’s hard for me to think about that because frankly, I haven’t yet been able to start daydreaming so far down the road. While I can imagine the Princess and her first day of school, future vacations, her next few birthday parties, my mind still goes hazy when I think about high school and beyond. I hate it when people ask me, “What does Addison want to be when she grows up?” I’m just not able to let my guard down completely. Not yet. But why worry about tomorrow when you can enjoy today?

“What day is it?”
“It’s today,” squeaked Piglet.
“My favourite day,” said Pooh.
– A.A. Milne

Love,
Elaine, Aaron and Addison

 

 

 

4 thoughts on “We always knew our transplant baby was one-of-a-kind…but three-of-a-kind??

  1. Love the quotation at the end!! Your words are so true Elaine…Brynn has paved her way of firsts in this world. So privileged to be the parents of such unique children – even if it has cause a few white hairs or more!!

  2. you have described things so well, I am the grandmother of a 15 year old granddaughter who was one of the first to receive a live stem cell (bone marrow) transplant at Children’s Hospital in Calgary, Aug. 23/02 when she was just a mere 3 years old. She was born Christmas morning 1999 – I call her my Christmas angel. She’s a beautiful young lady who just had her check up last week and passed with flying colors. Her sister, just 1 year and 9 days older was the donor…the Dr. said they were such a close match, their tests could have been mistaken for identical twins. How lucky were we? LIke you, thank heavens for medical miracles.

  3. Wow! 3 of a kind!!! I’m sure it’s a bit ifa relief to finally have an answer about WHY…! As you say, let’s take it one day at a time and enjoy and appreciate everyday thank you for sharing the update. Love you guys!!!!

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