Thursday, November 14, 2013

A new diagnosis and back on the vent

A few weeks ago we got a call from the genetics office saying our long-awaited whole exome sequencing results have finally come in (after more than a year) and they have a diagnosis for us.  Dominic has something called genitopatellar syndrome, an extremely rare, newly described condition.  Never heard of it?  Don't feel bad... the geneticist hadn't either (nor the neurologist, pulmonologist, etc...).  In fact, it has only been documented 18 times in the medical literature.  This is a disease where most affected people don't survive until birth, and and then the majority very shortly after birth.  Of the ones who do survive, most die in early childhood while there are at least 3 cases I know of who have survived into pre-pubescent years and the teens years.  The syndrome basically describes a bunch of common characteristics that all of the affected children share, such as absent or disfigured patella, severe mental retardation, lack of speech and walking development, hearing problems and a few more.  The problem is the list of problems that go along with this disease is no where close to Dominic's problem list, so we and the neurologist are convicted (along with a convincing genetic test) that he may have another disease called hereditary spastic paraplegia.  Tests are out on that one.  Our little saint is going to be published in the medical literature along with another boy who has been newly diagnosed.  His way of being a famous rock star I suppose :).

Of the kids who did survive to be born, all of the documented cases that I have found have died from apnea.  This is where our gratitude to our pulmonologist overflows.  We believe it is because of her aggressiveness in giving Dominic a trach and placing him on the vent that he survived.  That week we brought him home from the NICU, his apnea was getting much worse and quite frankly he shouldn't have survived.  He was turning blue and purple and once even grey.  We brought him back to the hospital where he had one very bad day on a regular floor where his oxygen went down into the teens (supposed to be 98-99%) before he was rushed to the ICU and given his trach shortly thereafter.  We know our pulmonologist's diligence and care saved his life.  Thank you, Dr. Dambro.

Remember this?  In the NICU, pre-trach.
Our one week at home.  Mary fell in love.
Back to the hospital... his first sleep study that determined he did in fact need a trach.


Dominic after receiving his trach and vent.  He was so little.  Our little crucified baby saint.
That same week, or maybe the week after... they are all running together... we received news that his home apnea monitor was running out of internal storage due to increased apnea.  Turns out it only alarms once the apnea reaches 20 seconds, but it starts recording at 16 seconds.  Dominic was having so many short apnea's (between 16 and 20 seconds) that the internal memory was filling up in about a week.  Upon finding this out we called the pulmonologist and scheduled a sleep study.  But in true Dominic form, he didn't want to wait.  After a routine sedation for a lumbar puncture and Botox (he fits in with the rich, bored old women now:), the anesthesiologist didn't feel comfortable sending him home, which earned him a weekend in the luxury resort also known as the children's hospital. (((On a side note, the anesthesiologist looked horrified as I described in a sort of laughing way how we are totally cool bagging him and performing life saving techniques and that it would be completely fine and safe to send him home- we could handle it!... he admitted him anyway)))  He had a sleep study on Monday which determined his apnea had grown worse and was now unsafe so he was placed back on the vent at night.


Mary again, ever the little momma, cuddling her baby bubba


The kids finding ways to entertain themselves in the hospital room



Dominic in his latest sleep study... I was lucky to catch a smile.  Nothing holds this kid down.


He was one agitated little guy... rough night for all.
So here we are... a new diagnosis that doesn't tell us much and progression of his apnea.  We are dealing with it all very differently: Mike in a very positive, faith-filled, in awe that he even survived pregnancy sort of way, me in my usual "I just need time" way, The boys in a "whatever God's will is" sort of way and Mary in a very excited way... because on the vent he can blow out birthday candles (we take the vent off and point it at the candle so he can "blow" it out).  Oh Mary.  In any case, God's holy will be done.

In and For Them,
Chasity

3 comments:

  1. My prayers are with you and your family.
    Your an amazing person.
    " God Bless Dominic "

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  2. I have read your blog for several months now following Master Dominic's ups and downs. What a trouper he is, just like my Courtney. She is 21 and suffers from a seizure disorder along with profound disabilities. She has overcome so much, just like Dominic. I remember when she was small, in and out of the hospital. Things are more stable now and with that comes a calm for this Mama's heart. Know that we will be praying for you and your sweet Saint. God is with always with you! Blessings and Grace!

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  3. My prayers are always with u You are a true Saint

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