Today I got a call from the genetics department. Ellie has a diagnosis that explains all of her symptoms. The our test from the whole exome sequencing was re-run to compare our results with current findings and data. Jeff, Ellie's dad, and I both carry the the genetic material responsible for Ellie's genetic variance with the TTN gene. Limb-Girdle Muscular Dystrophy type 2J also known as Salih Myopathy is newly discovered since Ellie's birth. We'll learn more when we meet with the geneticist in October. If you want to read more there is some info from the National Organization for Rare Disorders (NORD).
For Ellie, having a diagnosis will be helpful. For example, we're more likely to have help from organizations such as the Muscular Dystrophy Association and may be elegible for assistance for various things because she has a diagnosis where as before because she didn't have an MDA diagnosis we weren't eligible for support. For science and research, this is good. We have a name and something searchable. There are others diagnosed so we can learn from them however this because it's extremely rare there is little information so far.
For me a diagnosis is overwhelming. I have so many feelings. Before a diagnosis I could pretend, and hope and dream that some day all these difficulties would all disappear. That Ellie would walk and breathe on her own and we wouldn't need all this extra equipment and that she could be independent. She still might do all these things but instead of dream, I can research and learn how this disease/disorder has affected others. A diagnosis makes it real. It's scary and right now, I'm afraid to know more. It's a lot me to digest and a major change for me as far as mindset. I'll remain hopeful and still work very hard to provide and do the best I can for Ellie. That won't change. For today, I need time to grieve. Tomorrow is a new day. #TeamEllie
Hi I'm Courtney, Ellie's mom. Along with my village I have been raising Ellie (and her big brother Nathan) while learning how to live with and support Ellie's physical disabilities and special needs. It's not easy but our village is amazing. Thank you to all of you who support us, love us, and give hope, send wishes and prayers. We are so incredibly grateful for our community.
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