Tuesday, April 27, 2010

Family Health Update

 Most of my family and friends have kept up on Jeffrey through his Caring Bridge site.  While the waiting for his surgery can be difficult on some days, I've tried to keep us active and maintain a fairly routine schedule.  Jeffrey is definitely still in pain, but I truly believe he unfortunately has learned to cope with it most of the time.  I know when he's not doing well because he gets super fussy, eyes get puffy, and he keeps wiping his face.  Every once in a while I will ask if something hurts and he points to his head and says "Lala" (right there).

Aly continues to be our mystery diagnosis girl.  We received her test results back on the growth hormone and IGF-1 - all normal.  Her liver enzymes were "slightly" elevated, but according to the nurse nothing to be concerned about. Okay, yeah right... what does it mean if they go up? What should I watch for?

Call me a bad mom, but I have to be really honest here. There is a part of me that is just beyond exhausted.  Kay Lee - rare condition requiring emergency stomach surgery at 4 weeks old.  Aly - drops unconscious at 18 mos. old and now at over 4 we only know that her blood sugar gets too low, but absolutely no clue why.  Jeffrey - has screamed in pain since birth and doctors finally found the Chiari Malformation of the brain that has already caused damage to the hypothalmus/pituitary area (we assume it is the cause) causing Jeffrey to need growth hormone shots to keep his IGF-1 levels up so he can process glucose into energy and not become severely hypoglycemic like Aly.  Really? All 3 kids having something extremely rare?  100% of the babies Chad and I produce have rare medical conditions. Well, I guess thank goodness we aren't having babies like the Duggars - can you imagine what our medical bills would be?!?!  But I'll go with what Chad said the night we got Jeffrey's diagnosis - we need to buying lottery tickets with those odds!!

Forgive me for being a Wendy Whiner tonight. I'm just tired.  I've been through my own pain and symptoms, including a trip to the ER recently for literally the worst headache of my life.  Considering what I've been diagnosed with in the past 5 years myself (essential tremors in my hands, fibrymyalgia/chronic fatigue syndrome, neurocardiogenic syncope for blackouts and extremely low blood pressure, and occipital headaches), all of which seem to decide to flair up in the spring, you can imagine I might be a bit cranky right now.  Fortunately, Dr. Di (Jeffrey's neurosurgeon) has agreed to look at my medical history and MRI from a year ago and see if I could possibly have Chiari Malformation as well - especially since doctors and researchers are finding more and more cases of Chiari being genetic.

So that's our health status - hurry up and wait - story of my life.  Next stop: Dr. C (pediatric endocrinologist) next Tuesday and will hopefully start genetic testing with Aly to get her figured out.

1 comment:

  1. My daughter was diagnosed with CMI. The Chiari specialist referred us to Geneticist who said her CMI was caused by a connective tissue disorder. This diagnoses lead to a good number of my family members receiving diagnoses of Ehlers Danlos Syndrome. This explained a great many of my families medical oddities.
    By the way, the tv show '' House'' airing Monday May 3 will focus on CMI.