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

Dominic's Confirmation- joy and pain

There have always been times in my life where God has taken a hold of my heart and changed me.  Sometimes these times are small, insignificant events which last but moments or days, and other times these are substantial, life-altering times that re-form my most inner being.   The times my heart is changed only for a moment is not due to the lack of grace being poured out upon me, but rather it is cut short by my own stubborn disobedience to His Divine Will.  Thankfully God can even overcome this!   When He makes my heart fertile ground, the lessons stick, making a lasting impact that literally changes my heart so that I can not even recognize the old me before this event occurred. 

Two weeks ago we had the privilege of experiencing such an event when our little baby saint Dominic was confirmed in the Catholic Church.  This is a very special circumstance because confirmation normally occurs as a teenager when a person can make a complete, free choice for themselves.  But for Dominic, and for kids like him who are at an immanent threat of sudden death, God in his mercy gives the sacrament of confirmation through His Holy Church at a tender age.

The joy, the Presence, the gratefulness felt at that moment can not be described in human terms.  It is a feeling that still penetrates my heart of pure gratitude and love for our Lord that these words do no justice for.  But amid all of the triumphant praises being sent from my heart to His, a real, deep, burning pain enveloped me.  I was surprised at the sobs that came forth during the confirmation and especially at my real sense of sorrow and mourning that came afterwards.  I wanted to write this sooner, to take you all along with us, but I literally had no words.  I would sit empty, hurting, as if a part of me was being severed, in wonderment of why such a joyful occasion would bring such pain.  Finally after several days of subtle joy and abundant tears, our Lord revealed the source of this anguish.  Because Dominic can not speak for himself, Mike and I spoke for him, and in that moment gave him over completely to God as His soldier, His warrior.  My pain stemmed from the tearing away of my own will and handing it over to God, along with my beloved son.  In a tangible way, I gave Dominic to God and with this handing over came the realization that God will use Dominic to accomplish His will here on earth for only as long as necessary then He will bring him to Himself to begin his real work.   The mother in me cried 'No!' with every fiber of my being, but the servant of our good God said 'yes' with complete submission to His Holy Will.  This submission is what caused the physical pain in my heart.  Like a proud but sorrowful mother sending her son into war, knowing he is serving the greater good but also knowing he may not return, so was I. 

Since then, the pain has subsided and the wound has begun to close.  It is with deep humility and thankfulness that I recognize and admit Dominic is not mine nor Mike's, but we are only his care-takers.  He belongs to God and is doing His work here on earth.   I submit myself to God's will and God-willing, will be ready when he is brought to begin his real work in Heaven.  For now though, we just continue to love, and hug, and kiss, and snuggle this little saint living under our roof for as long as we have him.  God never forgets His children and in His great love and mercy has given us the gift of confirmation for Dominic through His Church.  To this I am grateful to the point of having no words, only silent praise and thanksgiving in the deepest recesses of my heart.  God's mercy endures forever; may His Holy will be done now and forever!

Totus Tuus,
Chasity



We are so very grateful to Msgr. Hart for being the hands of Christ and confirming our little saint and to Father Pio Maria for being Dominic's sponsor.  Dominic's new name after confirmation is Dominic Kilian Pio.  Kilian after the holy priest, Msgr. Kilian Broderick who married Mike and I and Pio after Saint Padre Pio of Pietrelcina.  Fitting.  :)