Guest guest Posted June 8, 2010 Report Share Posted June 8, 2010 Okay, my story is long but I'll just write the basics, she was born on time, had major feeding issues, 9 years old and still has major feeding issues - her soft spot closed early - first seizure at 3 months - developmentally delayed - Carnitine deficient at 14 months and put on L carnitine - seizures continued with abnormal EEG's, BUT normal IQ and sweet kid, tells eveyrone she loves them and hugs them, told she has autism at 2 but very social and good eye contact, speech was poor, but a loving child, she has a carbohydrate transporter disorder 271.9diagnosis by age 7 her IQ had fallen to 62 it's 58 now and she's 9. Seizures keep hitting hard. Doctor says - not autism Lennox Gastaut Syndrome - now her right leg is longer than the left, she can't run or jump or play and lays still most of the time. had the CGH microarray came back partial duplication on the short arm 16 at 11.2 Daddy has the same so it means nothing they say and then VLCAD comes back off and the lab results read 'probable mitochondrial in origins' BUT no test done to confirm that YET! In the mean time, she's sick all the time just spent a week in PICU with a prolapsed rectum and c-diff and she's still sick, we see the doctors again today. She's alway sick. She misses more school than she attends. We love her so much, she is our whole world but we're afraid we're going to lose her. We're going to pay a doctor private to look at all her tests and records and tell us what we need to do. Our insurance has referrals in for 5 months now and NO appointment YET. We're too scared to keep waiting. Anyone else have a similar story? I hope not! Christy mother to Amy 9 years old Quote Link to comment Share on other sites More sharing options...
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