Last Friday, Jenelle had her first follow up with Dr. Tran since her lengthy hospitalizations last month. Since coming off Depakote, and starting Zarontin, Jenelle's seizures are much more stable. At first, we would go days without seeing any of her absence seizures. Now, we are seeing more daily seizures, but nothing like the 25 minute seizures we had last month. She seems more alert as well, although weak in some areas. Dr. Tran agreed that Jenelle was doing well.
While we'd like to eventually increase Zarontin, and decrease Felbatol, we are on hold for the moment as we have a lot of exciting events happening for the family in May. The plan for now is to keep the meds the same until the end of school, then make some slight changes in the summer and follow up again with Dr. Tran in October. (And of course, stay out of the hospital!)
During her two hospital stays in March, Jenelle had some genetic tests done. Just to refresh your memory, when she was younger, Brett and I agreed to get as much genetic testing done as long as it was 1) not evasive to Jenelle, 2) covered by insurance, and 3) only if it would help provide some answers for Jack should he want to have children of his own some day. If you remember when we saw Dr. Menkes (the pediatric neurology version of Dr. House), he said we would never know, but that shouldn't discourage us from testing every few years as science is always advancing. So, during Jenelle's last hospital stay, we met with metabolics and agreed to run two tests - one which was a test to determine if Jenelle could tolerate Depakote, and the other a more extensive genetic panel of known genetic causes of Epilepsy through a company called Gene DX. Luckily, both were covered in full by insurance, and it was a simple blood test.
So, during the rest of our follow up with Dr. Tran last Friday, we discussed the "unexpected" genetic findings on one of Jenelle's tests last month. Yes, that's right... in 12+ years of testing, we finally found an abnormality in Jenelle's DNA. Bear with me... In the Polymerase Gamma (POLG) Gene Sequencing, Jenelle has a substitution of Exon 23 of the POLG1 gene (apparently she has a "T" and it is supposed to end in "G" (or vice versa). What this abnormality means, is that Jenelle cannot metabolize valporic acid i.e. Depakote. Not that we didn't already know that after her second hospitalization when her ammonia levels were off the charts! ;) We also learned that this "abnormality" was due to a spontaneous gene mutation... therefore it is very unlikely that Jack will pass it along to his children.
So, let me stress once again... the news of this abnormality is very, very insignificant. It literally tells us nothing new. However, in the 12+ years of hearing that her genetic results were normal or inconclusive - this "abnormal" finding had us laughing and joking with Dr. Tran. Finally, we have written proof that there is something "abnormal" about Jenelle's DNA.
So, who's to blame? My DNA or Brett's? Accordingly, the POLG gene is found in the Mitochondria... and apparently you get your Mitochondria from your Mother's DNA. So... Brett is relieved to finally have some slight evidence that it's all my fault! :)
While I can't stress enough how insignificant this is... I can tell you it makes us a tiny bit hopeful to see if we get more information from the Epilepsy Panel being done with Gene DX. Another interesting twist... a problem in the Mitochondria. Years ago we choose not to explore further testing for Mitochondrial issues. At the time, the test was a very evasive muscle biopsy, and we did not want to put Jenelle through that trauma. We are learning that some new tests are now less evasive (a simple swab of DNA from her cheek), so we there may be some additional tests that could give us the answer in the months to come. For now, we will wait for the second results and discuss it further tests with Dr. Chang in Metabolics.
The one thing that has stayed the same... we still have the same desire to keep testing. Now, not just for our original reasons, but in light of all the new scientific breakthroughs... maybe these results can help a child in the future. The changes in modern medicine are so fascinating at this time. What was once tested with spinal fluid, or muscle mass is now a simple blood test or swab from the mouth. Imagine a future for children with epilepsy ... you child has his first seizure, and instead of throwing him on the usual Phenobarbital; the doctor takes a DNA sample, and is given a range of medications that work best for that diagnosis! Think... 10 years from now (more or less) parents going through the heart ache of hearing the news that their child has Infantile Spasms will not have to endure the years of various drug trials of weaning on and off medications to find what works. And sometimes, those medications do more harm than good! No more guessing... instant treatment, and quicker relief for the seizing brain, thus giving back precious time for these kids who suffer from seizures to develop normally.
Jenelle will always be the amazing, sweet, loving child that she is now. And if it's my fault, so be it! I wouldn't trade her for the world. So what if it is a T instead of a G (or vice versa). She is beautiful; and our life is so wonderful with her in it.
Monday, April 27, 2015
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She is beautiful and that is your fault! I always love reading your blog, you know my Sydney and Janelle have had similar challenges all along, this is fastinating to hear. It is amazing what medical advances we are making and I've always have said the same about testing and I too now look at it as it might not help my child, but it will help others down the road! Thank you for your blog. You always find the positves. You are an awesome mom!
💞Tina ~Sydney's Mom
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