Featured Child- Katie A.
UPDATED June 27, 2008
Katie will be 3 in about weeks. She is doing great!! Her walking (with a walker) is getting so much better! She has had a signing explosion the last couple of months!!She watches Signing Time several times a day, every day. I could kiss Rachel Coleman!! It is really an amazing tool. Katie can now sign more, finished, drink, eat, cracker, ball, block, go, open, bath, apple, play, color, mama… and Leah!!! (the little girl in the video is named Leah and the sign is “L”) Not all of it is consistent, but almost. She is also verbalizing a few things. Like mama, bath, and ball.
She no longer has to have shots, her MMA is gone! With the exception of 1 febrile (fever) seizure in December, she has been seizure free for a year and a half!!
We waited 10 years to have Katie. We made the decision that IF she had medical issues like Jake, we could, and would deal with it. We talked to Jake’s doctors and went for genetic counseling. We were told by our genetic counselor that there was nothing to indicate that Jake’s condition was genetic in nature and were given the ok. We felt that there was still a small chance that it WAS a genetic condition and Jake’s geneticist told us that without knowing for sure, there could be a 25% chance Katie would be affected. Even though all of his tests came back negative, she had always felt that there was an underlying genetic issue. But still, we hoped for the best, and went ahead with our plans to have a baby.
I had a couple level 2 ultrasounds and everything looked good. My pregnancy was miserable. I have an arrhythmia which got to be very bad and I developed Restless Leg Syndrome. Other than that, things were pretty uneventful. I went into labor for the first time without being induced. I’m glad I got to experience that. Katie was perfect. She weighed 8 pounds 3 oz and her head circumference was fine. We came home after 2 days. A couple weeks later, she developed jaundice, which was due to poor breastfeeding. After that cleared up, things were great. This is the first baby I had breastfed, and the first baby that did not stay sick all the time. I am a true breastfeeding believer now!
Around 4 months, we really began to feel things weren’t right. She was still very much a “newborn”. She smiled and looked at you, but that was about it. So I got the brilliant idea of measuring her head circumference. It had dropped significantly. It was now nearly off the chart. It was exactly like Jake’s had done. Mike and I were devastated. And so began our life with 2 special needs kids.
We took her to Jake’s neurologist. He was shocked and heartbroken for us. He said she had microcephaly and developmental delays and that she held her arms and legs dystonic (straight out). She’s not spastic, but prefers to keep them straight out. She also started to have occasional jerks, which looked like Jake’s myoclonic seizures. Her EEG came back normal, though it did have one spike they assumed was just movement of her head.
We began physical therapy. Then one day after therapy, we stopped at Walmart for groceries on the way home. Katie was in the car seat in the shopping cart and had a seizure. It was a febrile seizure. When we got her home, her temp was 102. Her next EEG also came back normal.
Since then, she has had several more seizures both febrile and without fever. She tried Trileptal which didn’t help. She is now on Depakote Sprinkles and has been seizure free for almost 3 months.
We saw the geneticist who ran all the tests they run and Katie’s urine came back showing high levels of methylmalonic acid (methmylmalonic acidemia or MMA), so they did the blood test, which also came back elevated. She has to have a shot everyday of hydroxocobolamin (B12). It has brought her levels down to normal, but has not helped with any of the developmental issues, or seizures.
The geneticist does not know, but winders if Jake also had MMA as a baby, but resolved on it’s own before he was seen in genetics. There’s no way to know. If so, then maybe Katie’s will too, and she won’t have to have the shot forever. It is also possible that she has MMA in ADDITION to whatever genetic disorder both kids have.
They don’t have a clue what’s going on with my kids.Jake, Katie, and I are all positive for a mutation on the Rett gene. But because I am unaffected, the labs has said it is not the problem. But our geneticist thinks it still may be playing a roll in their issues. Possibly a combination of this Rett mutation that I gave them and something else that their dad may have given them, combining together.
At this time, Katie is 19 months old. She can now crawl where ever she wants. She’s slow but she gets there. She is pulling up onto her knees. She babbles a bit, but nothing purposeful.
I wish she didn’t have have these medical issues. We waited 10 years, scared of what would happen. And we were right, Katie is disabled, but I am so glad we decided to have her. It’s going to be a lot of hard work, raising 2 children with special needs, but it’ll be worth it! She is just about the most beautiful baby I have ever seen! She’s so happy and always smiling. She has her daddy wrapped around her little finger.