Wednesday, March 20, 2013

The CCHS Fairy

As you all know, Mighty Z has CCHS (Congenital CentralHypoventilation Syndrome), and since CCHS is a neurological disorder, it affects every aspect of Mighty Z’s body. Simply put, many of the neurons in Mighty Z have repeated, haven’t matured like they are supposed too, and are not going to do the tasks that they are meant to do.

Because of that, sometimes Mighty Z’s neurons spark and do the task that they supposed to do and sometimes they don’t. It is almost like faulty wiring in a house.  Sometimes the lights flicker, sometimes they don’t turn on at all, and sometimes every light in the house works. It all depends on the day.

The CCHS fairy likes to fly around and strike at any moment.  Just last week we had a beautiful five year old with CCHS running around playing and then all of the sudden her heart stopped and she just dropped like a rock and died. CCHS is a very unforgiving disease.  It comes like a thief in the night with no warning, slinking in just when you think all is well and whacking you when you least expect it. 

Mighty Z started passing out in September. First I thought it was some vitamins I was giving her, then I thought it was a medication she was on, and then I realized it was something much more serious.  Mighty Z had been passing out, but she was on her breathing pacers, so at least I knew something was breathing for her. I wasn’t too freaked out until she passed out at school off her breathing pacers. Of course I thought her heart was pausing, a common issue with CCHS.  All I needed to do was have a cardiac pacer implanted and then all would have been fine. However, it wasn’t Mighty Z’s heart: it was something much more sneaky than that.  It was discovered that Mighty Z also has Hirschsprung's Disease.

Hirschsprung's is most often diagnosed within the first week after birth.  However, some individuals are diagnosed later in childhood or as adults, though they have had chronic problems their whole lives.  Symptoms of Hirschsprung's include constipation, abdominal distension, vomiting, decreased appetite, cramping, and failure to thrive.

How did we miss this? I have no idea; all I can conclude is that I have always known that Mighty Z had sluggish bowels, and her doctors have known this too, but never felt it was an issue. I think we were all so focused on the fact that Mighty Z didn’t breathe on her own at night that her bowels seemed insignificant.

If you don’t treat Hirschsprung's disease, stool can fill up the large intestine. This can cause serious problems like infection, bursting of the colon, and ultimately death.  So what do we do for Mighty Z?  What are our options? We are hoping for a pull-through which involves taking out the part of the intestine that doesn't work and connecting the leftover healthy part to the anus. After a pull-through surgery, Mighty Z would have a working intestine.

However, we are preparing ourselves for a colostomy or ileostomy. A colostomy surgery is where the doctor leaves part of the large intestine and connects that to a stoma (open hole). Mighty Z would have a colostomy bag. An ileostomy surgery is when the doctor removes the entire large intestine and connects the small intestine to a stoma (open hole).  Mighty Z would have an ostomy bag.

I am heartbroken. I know that this is just a bump in the CCHS road; however, I was hoping that the Hirschsprung's  cup would pass my lips.

We meet with surgeons next week to discuss our options; we are asking for prayers for peace and knowledge to make the right yet difficult decision on how to keep Mighty Z alive and healthy.
                                      Sweet Mighty Z waiting for another specialist to come in
 Edited by Emily Minich
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  1. Continued prayers for the strongest girl and family that I know. I love you guys!

  2. Oh, honey! Tears and prayers for you and your sweet girl.

  3. Wow. We have been between that rock and hard place many times...I have faith that you will know the right choice to make. We had our Palliative Care team ask us once, "how far do you want to go?" Of course, our answer was ALL THE WAY! Our Ruthie has a very rare genetic disorder (should be 1 in 4,000,000 but is underdiagnosed...she was #64) called adenylosuccinate lyase deficiency. Because of this, she has refractory epilepsy. She's had several craniotomies already. Developed fungal ventricularitis/meningitis after one (nosocomial infection due to a leak in the tegaderm around her lumbar drain). We were diagnosed last fall with Central Hypoventilation, but there is some agreement that it may be from the infection she had. We carry 02, an Ambubag, suction, rescue seizure meds, pulse ox with us everywhere. She takes Provigil and caffeine to keep her respiratory drive going while awake, is on non-invasive ventilation while asleep with a Trilogy in AVAPs setting. her doctors have been making noise about needing to trach her--we do NOT want to go down that road. It was very difficult for her to learn to talk, and she has had a hard time with the stoma for her g-tube. We are always looking for other answers--have thought about pacing, but are also very excited about the biphasic cuirass ventilator made by Hayek. Very happy to have found your blog. You write what is often in my head.