Tuesday, February 16, 2016

2016 - where should I begin?

I purposely haven't updated because there has been quite a bit going on lately... not really sure where to begin!  Chronologically seems best - here we go~

During December, we made the changes to the seizure medications that Dr. Tran had suggested.  Around the 22nd, we decided to add Megace to Jenelle's medications to see if it improved her appetite.  Shortly around Christmas, we began to see a difference - instead of avoiding food completely, Jenelle began to take up to 5 bites of a small meal!  Baby steps! Unfortunately not the appetite we were once used to so we are still dependent on Ensure.

In January, Jenelle's medical insurance changed to 100% Medi-cal.  This also meant changing primary care physicians, and Jenelle returned to a doctor we saw two years ago (Dr. Turner) for a physical and to get all of her routine authorizations re-approved (for things like diapers and such.)  At her physical, Jenelle weighed in around 81 pounds - so we are up 10 pounds since the dramatic weight loss!  A good thing for sure!

Shortly after Christmas, we received the genetic test results from the "Whole Exome Sequencing" we had tested back in September!  Once again we received normal results; or as written by the genetic nurse, "The testing did not reveal a clear molecular etiology for Jenelle's symptoms."  Normal.  No Answers.

Then, the nurse told me, "There was a slight variant of unknown significance in the TPP1 gene.  The doctor has ordered enzymatic testing for the enzyme TPP1 in blood. If that level is normal, then he will have essentially ruled out the condition associated with pathogenic changes in this gene. That condition is known as ceroid lipofuscinosis type 2."  Wow.  Big words.  After reading the e-mail... I immediately went to Dr. Google to search "TPP1" and "ceroid lipofuscinosis" ... the search result was concerning ... "Batten Disease."  In short, an extremely rare and fatal autosomal recessive neurodegenerative disorder that begins in childhood.  Some symptoms sound like Jenelle... some do not.  Regardless, the "fatal" part of this diagnosis is no different than the prognosis we were given for Jenelle at age 18 months.  

Just to be overly cautious, the doctor has ordered a blood test of the TPPI enzyme in Jenelle's blood to rule out Batten.  We are fairly confident that most likely Jenelle does not suffer from Batten Disease, but in fact could be a carrier for it should she ever have children.  Interesting.  Anyway, this changes nothing about our amazing little girl.

The New Year arrived and we began to see less seizures.  On January 25, we were admitted to CHOC for a week long Video EEG study to see where we were seizure wise with the medication changes, and Dr. Tran was hoping to catch one of Jenelle's newer complex partial seizures (the one where her eyes look like Groucho Marx).  Guess what - we got nothing!  I swear, those EEG probes are the cure!  The good news is that we got to go home two days early (just in time for me to get sick!) and the better news is that Jenelle's Video EEG looked good - better in fact than the two previous EEGs in March 2015 and October 2014!  And yes, no seizures!  Dr. Tran tweaked Jenelle's behavior medications, but kept the seizure medications the same.  She agreed that it was time to seriously discuss a VNS implant!  Something we've been thinking about getting for 5 years or more.  On January 28, we met with neuro surgeon Dr. Olaya at CHOC and he agreed, Jenelle could benefit from a VNS, in particular, the new Aspire VNS implant.

So - Vagus Nerve Stimulator - VNS - what is it?  In short, it acts like a pacemaker for the brain.  It monitors the heart rate and electronic frequencies in Jenelle's Brain, and begins to track her seizures.  It also begins to send "stimulation" to the brain when it detects that Jenelle is going to have a seizure, thus hoping to cut it off more quickly.  Lucky for us, the VNS has changed dramatically in the last 5 years and we're told it is much more beneficial for children with cluster type seizures like Jenelle.  The new VNS model is called the Aspire, and it is said to work well with children with Lennox Gastaut Syndrome.  We are very excited for this new technology.  Jenelle's surgery date if February 24 and surgery is supposed to be outpatient for about an hour.

So, that should bring you to date with all the changes going on in Jenelle's life.  Thank you always for the continued prayers - please keep us in your special prayers for an easy surgery on February 24.  Of course, I'll keep you posted!


3 comments:

Kelly von Hemert said...

love you all! xoxoxoxo

Magnus Lageson said...

Sounds like great possibilities!

Marc said...

They found the same variant with Mira - TPP1, but since it was heterozygous, we were told it probably wasn't relevant. Her neuro said to completely rule out NCL, they would have to do a skin biopsy. You can do a search on Mira's site for TPP1 to read what they found. Thanks for sharing!

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