It's been 7 years (and 2 days) since we got the diagnosis that would change our lives: Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (which has since been refined to PIGN-CDG). Gosh, Teddy was little!
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| Diagnosis Day 2015 |
That diagnosis came after nearly 2 years of searching for answers. Every test came back normal or negative, yet the seizures continued and the developmental milestones went by the wayside.
That diagnosis changed nothing in terms of treatment for Teddy because there was no treatment (beyond standard therapies like OT, PT and speech and medications to control the seizures). Seven years later, there is still no treatment for Teddy's disorder.
What changed with diagnosis day, though, was that we slowly but surely found our small community of other PIGN-CDG families throughout the world. We celebrate the successes (however small to the outside world) of our children, and we mourn with each other every time we lose one of our children to the disorder. I've shed so many tears through the past 7 years for children I've never met in person, yet they hold a piece of my heart because they are like Teddy in so many ways.
And so, as we head into the giving season with Giving Tuesday 2 weeks away, please consider donating to the incredible research opportunity we have to hopefully find a treatment for PIGN-CDG: https://secure.givelively.org//donate/cdg-care/finding-a-treatment-for-pign-cdg/kerry-blondheim While there's no guarantee the science will work in our favor, this is the first time in 7 years that we've had any glimmer of hope for treatment.
And a huge thanks to all who've donated. If you're not in a spot to donate, please consider sharing this post with others who might.
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