Ava was diagnosed with a Complex III OXPHOS mitochondrial disease after a fresh muscle biopsy was performed in Atlanta in February 2009. While there is no cure, the diagnosis does help to explain her many medical and developmental issues, tying together what would seem to be a very random assortment of afflictions. Prognosis is uncertain and individual, so while we don't know what the future truly holds, we have great faith in the emerging research and hope that there will one day be treatment, and eventually a cure.
Ava's issues include:
- Severe GERD from birth (former FTT...Thankful for her GJ tube!)
- Dysphagia (partially due to an aberrant right subclavian artery causing esophageal compression)
- Chronic diarrhea
- Funky intestinal motility
- Balance/gait/coordination issues that worsen with fatigue
- Sensory Integration Disorder
- Arachnoid cyst in left temporal lobe (deemed a Virchow-Robin space)
- Joint laxity and hypotonia
- Developmental delays...but catching up quickly!!!
- Absent reflexes
- Cardiac Arrhythmia
- Sensory Ataxia
- Some autistic-like tendencies (aka "Ava-tism" in our fam)
- Obstructive sleep apnea (hopefully resolved for good with an adenoidectomy, July 2010!)
- Atrial septal defect (ASD)...repaired Feb. 2011
- ADHD dx as of May 2011
- Lap Nissen fundoplication 9/06
- G-tube placement 10/06
- GJ tube placed 8/07
- Open Nissen fundo with repair of giant paraesophageal hernia 6/08 (At this time, a muscle and skin biopsy was taken from Ava's abdomen, as a neuromuscular disease was suspected. The results were invalid and of no diagnostic value.)
- Fresh muscle biopsy in Atlanta 2/09, resulting in mito diagnosis
- Pacemaker/thoracotomy 10/09
- Adenoidectomy 7/10
- ASD repair 2/11
The Knops Family
Lindsay, Dave, and sweet Ava
"Listen to the mustn'ts, child. Listen to the don'ts. Listen to the shouldn'ts, the impossibles, the won'ts. Listen to the never haves, then listen close to me... Anything can happen, child. Anything can be."
— Shel Silverstein
No news is (mostly) good news
March 6, 2013 8:58pmThis is definitely the longest I've gone without updating, but fortunately, no news really is pretty good news in Ava's world. There are always issues, of course, but all in all, I must say that 2012 was a very, very good year for our little bunny.
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"Being deeply loved by someone gives you strength, while loving someone deeply gives you courage." --Lao Tzu
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