So, it's taken me some time since my last posting but, we've received some terrible news about the potential diagnosis. Based on his clinical history and his abnormal EEG, they seem to think Tommaso has Dravet Syndrome or Severe Myoclonic Epilepsy of Infancy (SMEI). It will be confirmed if he is positive for a mutation that they are studying right now. We are still waiting for the results, but they think he has it.
It is any parent's worst nightmare. This syndrome has a poor prognosis and will cause severe cognitive deterioration within the first 2-4 years of life. There is a high percentage of morbidity because of status epilepticus (long seizures - Tommaso has had many) and accidents due to seizures.
I'm not convinced he has this syndrome because he is well developmentally and one of the key indicators is a decline in cognitive development beginning at the onset of the seizures. He was 3 months old when they started and although he's had a poor response to drugs, he continues to climb in development particularly in speech. He is 21 months now and has a vocabulary of over 60 words and can speak 3-4 word sentences: "I want to see", "go down", Who's that?", "I want that!" for example and can say words as complex as: "Octopus", "sanitize", "cereal". He is late with walking, but he cruises very well and to be quite honest, if I was on industrial doses of anti-epileptic drugs for my whole life, I wouldn't be that strong on my legs either.
However, there is always a chance that he has Dravet's, but I'm hopeful still of the slight chance that he does not have it.
A good friend of mine, Pauline, called me the other day. She had these encouraging words:
"Don't give up on your faith, doctors are wrong all the time, God makes miracles everyday. Keep praying and hang on for Tommaso."
Well said, Pauline. You were my angel that day and I will not give up for Tommaso and our family!
If you've read this, can you please take this moment and pray 5 "Hail Mary's" for Tommaso right now.
I thank you from the bottom of my heart,
Celestine
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Hi, Celestine,
ReplyDeleteI'm Tara's sister, Linda. Every Thursday, I meet with a small group to pray and do bible study. We're off for a few weeks, but I am going to email the blog to my group so we can start praying for Tommaso now, and we will pray for him every Thursday morning (at 6AM - if you are up with one of the boys, you can look at the clock and know that you are in our prayers),
Linda