27 Feb Yavi’s Superhero Story
Yavi is a SLC13A5 Superhero. Here are a few fun facts Yavi’s parents shared with us!
- Age: 2
- Hometown: Ridgefield, WA
- Siblings: He has 3 sisters and 2 brothers.
- Favorite food: He loves most food, but his favorite food is probably beans and rice with avocado.
- Favorite activity: He loves being outside playing in dirt and riding horses with his sister.
Yavi’s Medical Journey
I knew something was wrong within the first couple hours after he was born. I just didn’t know what was wrong. I kept telling the doctors and nurses that something was wrong and nearly 48 hours after he was born a nurse finally came in and recognized what I was complaining about as “posturing”.
After much trauma to stabilize him he was transferred to another hospital in Oregon, where I was told he had some water shedding or brain damage that could be causing his seizures and that he may have severe developmental delays. The doctors were sure the seizures were temporary… but to be absolutely sure, genetic testing was done.
Yavi was sent home with no medication and within a few days he was back to the hospital. He then went home on medication with the expectation of slowly weaning him off. As we began to wean him off he started seizing again. I felt helpless. My heart was broken. I couldn’t fix this for him. It wasn’t fair he was born like this and has struggled to live ever since.
I watched my son repeatedly turning blue as he struggled to breath while seizing. I have watched him be used as a human pin cushion, have two spinal taps, and have his shin bone drilled into twice because he had no more veins that were good enough for an IV. Test after test.
When we finally got the genetic test results for Yavi it came as a relief. We finally had answers and I was able to talk to other families whose stories resembled ours. And to see their older children with good seizure management and doing things I had been told my child may never do, gave me hope.