Katie A.

We waited 10 years to have Katie. We made the decision that IF she had medical issues like her brother, 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. And I stayed nauseous. 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. Depakote Sprinkles helped a while. The she started having more pronounced myoclonics as well as atypical absence. She now takes Clonazepam and the myoclonics have stopped, but she still has some absence. 
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 had to have a shot everyday of hydroxocobolamin (B12) for a while. It has brought her levels down to normal, but didn’t help any of the developmental issues, or seizures.
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.
Last year she started having back or hip pain and we found out she had spinal fractures. They did tests and it showed she had very weak bones and had to stay in the hospital for IV meds for her bones. The doctor said she would probably need the infusions every few months, but the one time (plus taking CitraCal everyday) seems to have done the job (for now).
At this time, Katie is 8. She can use her walker like a pro and does a bit of independent walking. She has no speech but has lots of signs and uses an iPad and Proloquo2go.