Howdy all,
What I am going to do is go through the entire story of Lily's diagnosis from the beginning to present. I realize that if you don't know us personally you may not know the whole story, so this should fill in the gaps. This is going to be long but I am going to try to summarize as best I can without losing important details.
On Dec 14, 2009 exactly one month to the day before Lily turned 3, she had her first seizure which lasted 45 minutes and was ruled . She had a CAT scan that came back a-ok and an EEG that came back normal as well. So they felt it was only a one time thing and after some time in the hospital for observation sent us home.
On Jan 24, Lily had her second seizure. This seizure lasted about 10 minutes and she came out of this one on her own. She was not kept at the hospital over night but they did keep her for a bit for observation. We were then encouraged to make an appointment with a neurologist which we did.
In Feb Lily had another EEG. I totally expected it to come back normal, but it didn't. She was having erratic brain waves very often. The Neurologist dropped that bomb in my lap and told me that Lily had Epilepsy and would need to be on meds. With that he sent us on our way, never asking if we had any questions, etc, etc. As you can tell I wan not really impressed with this guy. I am not going to name him here but if you want to know who, just shoot me an e-mail. Anyway, this Dr. ordered a MRI. We made an appointment with a different Neurologist (and I am SO glad we did!). In March we had the appointment with the new Neurologist. She was and still is fabulous! She gave us a through education on seizures, etc.
In April Lily had her MRI. She also had a seizure that last 1 and 1/2 hours. She also had her tonsils and adenoids out. I strongly felt that Lily's seizures were being caused by a very bad sleep apnea she had from her enlarged adenoids. Towards in end of the month her neurologist asked us to come in so she could discuss the findings on her MRI. Lily was having bilateral signals arising from her basal ganglia. This is not right. Signals from the basal ganglia are suppose to be unilateral. So at that point the Nuero was thinking possible Mitochondrial disorder. So we need to do some blood and urine tests.
We went straight away and got those tests done. A few weeks later we went back to get the results. She said it was not Mitochondrial disorder but it may be something called Canavan. As most people I had never heard of Canavan, so she did her best to explain it. She said Lily had a level of NAA in her urine that was 84. She said that he urine NAA should be 0 and to date the only thing that it could point to was Canavan. She also said the test results did not make sense because Lily had none of the signs of Canavan besides the seizures. She said she would need to do some research and then get back to us. After a few weeks she contacted us again. She found a case very similar to Lily's and she wanted us to see a Geneticist. She had wanted to conduct a bunch of tests on Lily including a skin biopsy and a fMIR but she felt with how much Lily had been through she didn't want to put her through any more.
So in June we went to see the Geneticist. He felt the test results didn't make any sense either as he had a traditional Canavan patient and Lily was so much different than he. But to date there had been nothing else to confirm the findings in he urine. So he wanted to do testing that would give us a yes or no answer. It was a simple blood test but it took months to do. Our insurance company denied to do the test. Because there is no treatment or cure for Canavan I guess the insurance company figures why bother. But um hello we needed to do the test to rule it out or rule it in. So we had to apply thought BCMH which did pay for the test but it took a little over 3 months to get approved.
So jump ahead to August where my sleep apnea theory got blown to hell. On August 19 after 4 and 1/2 months seizure free Lily had another seizure. This one was her shortest ever at just 6-7 minutes. I was bummed but optimistic that since they upped her meds she would be free of seizures for another 4 months. That theory was shot all to hell just a short 10 days later. On August 29th Lily had what was to be her longest seizure ever at 3 and 1/2 hours.
Her Neuro had order some evaluations (physical, occupational, and speech) back in April to make sure that Lily was were she was suppose to be. Also she wanted her to have an eye exam as with Canavan it is common for the optic nerve to atrophy. Well, because I had been clinging to my sleep apnea theory something awful I never made the appointments. These seizures got me off my back side.
Lily has had her physical therapy eval. She is right where she is suppose to be. She has also had the eye examine. Her optic nerve is in perfect condition. So this lead me to believe that they were wrong about the Canavan.
So last week I finally got the call and we have the results. Lily does have atypical or mild, or partial Canavan. With Canavan there are to be two gene mutations with the Canavan mutataion. Lily only has one Canavan mutataion. She does have a second mutataion, but it is one that they have never seen before. The second mutation is not Canavan but they are not sure what it is.
So there is the story in a nutshell. If you have any question, please feel free to ask!
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