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| He thought he was the doctor. That hasn't changed. |
That's the day our lives changed forever in an instant, yet nothing changed in that moment. A diagnosis answered some questions yet opened Pandora's Box because only 3 research papers existed in 2015 on Multiple Congenital Anomalies Hypotonia Seizures Syndrome 1, as it was called back then. Literally, Google returned less than 10 hits. How can that happen?!?!
Those 3 research papers painted a bleak picture, with a life expectancy of 3 years written in black and white. That's the reason we kept the name to ourselves, aside from sharing it with my aunt who was entertaining AJ in the waiting room for the entire 3-hour appointment, for several weeks. We didn't want our parents to search it and find that devastating news until we could confirm with our genetics team that there was no reason to believe our little boy would die in the next 6 months (as he was 2.5 at the time of his diagnosis.
We were told Teddy was believed to be the 15th person ... in the entire world of 7, 470,491,872 or so people. Mind-blowing to say the least, especially since there was only a 25 percent chance of us getting a diagnosis with the exome sequencing test. We had low expectations since every other test came back normal or negative, nothing explaining why Teddy was lagging further and further behind in milestones, lacked muscle tone and control and put a nasty spin on the phrase, "shake, rattle and roll" with his seizures.
That day cemented us as a family of 4 with no further children added to the mix. I distinctly recall them asking if we planned to have more children, and my honest answer of, "Not after today."
That day, and the following month, were so hard with so many questions and so many unknowns. The first glimmer of hope came in connecting with another mom, even though she had already lost a child to this disorder and had another daughter affected. It was such a relief to have another human, another family who was walking a similar path. It truly was the best Christmas gift we could have received that year.
From there, we found a tiny Facebook group with a family from Australia, a family from Poland and two other families from the United States. We had so much in common, despite the cultural differences and the wide variation of how the disorder impacted our children.
Now, 10 years later our tiny Facebook group feels so much larger, with more than 100 known cases of what is now called PIGN-CDG (Congenital Disorders of Glycosylation). We families have banded together to try to find treatments to benefit not only our children but those to come. (You can learn more and donate here: https://secure.givelively.org/donate/cdg-care/finding-a-treatment-for-pign-cdg/kerry-blondheim). We've met several families in person, connected via technology and have developed incredible friendships. We mourn the loss of each beautiful soul to this disorder, celebrate every milestone and achievement and support each other through it all.
While this isn't the path we'd have chosen for our family, we're so incredibly blessed with both our children and grateful for the support along this journey. After 10 years, it's so much easier to see all the connections and the incredible things that have come from this diagnosis and shaping our family into who we are. We're forever changed by being a part of this community and hope we can ease this diagnosis for those following behind us.
