Manny was born with extreme hypotonia (floppiness) and muscle weakness. Genetic tests done, no results. (And the reason is because his condition is EXTREMELY rare and they wouldn't have tested for it.)
8 months old, his birthmother took him to the hospital (he was very sick) and placed him for adoption.
|Last week after Manny's PICC reinsertion procedure. Surgical cap and Versed on board!|
During that month, they took him off oral feeds and moved him to a gtube with nissen fundoplication. Up until that point, he had been able to drink via bottle, but now he was aspirating every swallow and had GERD (acid reflux).
9 months, we picked him up from the hospital to adopt him.
He retched, a LOT.
11 months, he got pneumonia and landed in the hospital (Same one we're at now). Dr. Cartaya ran miscellaneous tests including a brain MRI. That was interpreted as "End Stage Leukodystrophy" and the prediction was he wouldn't live even another month. We went home with hospice and a DNR.
|On the way to a procedure in his chariot, er, I mean wagon|
He retched, even more. And would affect his breathing/heart rate.
By 14 months or so, I pushed to have the "palliative care only" removed so he could begin some treatment. He was not behaving like his condition would indicate. I began to press for a different diagnosis.
By February 2011, he has worsening GI symptoms so a study is done. Stomach has stopped working. Put him on a GJ tube.
Multiple issues with the GJ tube over the next few months.
April 2011, muscle biopsy results show the actual diagnosis is Merosin Deficient Congenital Muscular Dystrophy. We begin to learn what this entails. It describes him to a T ... except the extreme feeding issues.
Continued GJ issues. Increasingly worse to the point where I was afraid for his life.
September, 3 hospitalizations regarding extreme retching (to the point of respiratory distress, tachycardia of close to 300), etc. Realize we need more help. His Muscular Dystrophy doc suggests Shands.
October, spent the whole month in Shands in Gainesville as they are the best Peds GI around. After MANY MANY tests, they determine he would have to go on TPN and give him a PICC.
November 10, his PICC cracks and they put in a temporary one until they can do a Broviac.
|What his rash DID look like when they changed out the PICC (See yesterdays post for the current picture)|
December 2 -28 hospitalized for a central line infection (Sepsis). Remove the broviac and go home on a PICC.
January 25, 2012 - PICC acting up, rewire it. Go home with a rash around the site.
February 3 - 6 days later, readmitted for cellulitis around the PICC site. PICC removed
February 4 - awaiting negative blood cultures so we can put in another broviac.
February 5 - surgery scheduled for Monday or Tuesday
Meanwhile, on Feb 13, we are scheduled to go to the NIH. Their Neuromuscular Disorders Clinic has actually SEEN some kids with his underlying condition. We sent all of Manny's files there, including MRI, muscle biopsy, etc. They were struck by his file since he definitely has Merosin Deficient CMD but these GI issues are atypical for the condition. We're hoping they can figure out what is going on.
Combine THEIR thoughts with the Metabolic Geneticists thoughts, we have an excellent team.
Why are we fighting so hard? Simply put: I don't think it should be life-threatening to feed my child. But currently it is.