We have had a chaotic spring, with the boys' surgeries that took up our lives from late February through mid April. I am so grateful that everyone has recovered! Nolan went back to school today, and was happy to have his routine back.
I recently had a friend tell me about a pediatric specialist in our (relatively) local area who takes on difficult cases. My friend's children are also complex, and this specialist is keen on finding an accurate, global diagnosis for her kids. I am in the process of trying to get an appointment for Nolan, as he needs someone to review his entire case and look at the boy as a whole. Currently, his diagnoses are (organized by system):
ENT:
Chronic sinus infections
Chronic ear infections (5 sets of tympanostomy tubes)
Progressive, mixed hearing loss (currently moderately-severe to severe). Hearing aids.
Laryngomalacia
Obstructive and central sleep apnea - C-Pap user
Glossoptosis
GI:
Severe reflux/Nissen fundoplication with g-tube placement
Gastroparesis
Failure to thrive (supplemental feeds for ~ 800 calories/day)
Chronic diarrhea
Periodic vomiting attacks
Vision:
Astigmatism (both eyes)
Myopia (right eye)
Amblyopia (right eye) - treated with glasses
Urology:
Posterior urethral valves
Cardiology:
Innocent heart murmur in the mitral valve area (echo normal, sounds of regurgitation from mitral valve)
Other:
Hyperflexible joints
Mild hypotonia, primarily in the hands and arms
Fatigue with walking
Unexplained leg pain (severe & periodic)
In any case, I'd be glad to have his entire case reviewed, just to make sure someone hasn't missed something obvious along the way. In addition, I want to make sure that we're treating Nolan appropriately - I don't want to do any more surgeries until we're positive it is the right treatment for his system as a whole.
The pediatric specialist has two "sides" to her practice - a general pediatrics side and a rheumatology side. I am currently waiting to hear back from the office to see which "side" Nolan will be booked under - with the hyperflexibility and leg pain, they may book us under rheumatology rather than general pediatrics.
I just hope they can help us find some answers.
4 comments:
Gee, that would be great to have someone (besides YOU!) who looks at the big picture - hope this doc is a blessing.
Julie
Hey Leah... I'm sure this has come up before but has Noonan Syndrome crossed the table yet? There are a LOT of things on that list that fit the umbrella...
No one has suggested Noonan Syndrome. Or anything else, really... the geneticist at Cleveland Clinic was thinking some sort of connective tissue disorder, but he doesn't fit squarely into any of the categories. Stickler fit the most (out of the connective tissue dissorders) but he doesn't have the eye changes (Stickler kiddos have changes to the jelly inside their eyes)... he fits a few different things, but nothing squarely. I'm just hoping that this doc can sort a few things out for us! Particularly since Matt also has the laryngomalacia and reflux (and motility issues - though his are with constipation and not delayed emptying).. not sure if he has a milder version of what Nolan has, or if it is just coincidence.
In any case, I am anxious to hear back from them.
Fingers crossed that you will soon know at least something more. It's horrible not knowing.
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