Monday, June 13, 2011

The Letter is Being Faxed

Our pediatrician's office is in the process of drafting a letter to our insurance company, in the hopes that they will authorize our trip to the Cleveland Clinic. They asked me for a general synopsis of Nolan's medical history and our reasons for wanting to go to the Cleveland Clinic, so I sent them the sheet of paper I take to each new doctor (his medical history is now long enough that I can't spit it all out in a few seconds). Here is what that paper looks like:

Nolan's Medical History

Gastrointestinal: Severe GERD unresponsive to medical therapy, mild delayed gastric emptying, slow bolus transit time noted during first impedance probe.

Urology: Posterior urethral valves, ablated in June 2009.

ENT: Obstructive sleep apnea unresponsive to surgical measures (tonsillectomy and supraglottoplasty), chronic otitis media (four sets of PE tubes by age 3) congenital bilateral hearing loss (moderately severe mixed hearing loss), severe laryngomalacia. Wears 2 hearing aids.

Neurology: History of severe central sleep apnea (resolved), mild hypotonia.

Vision: Anisometropic amblyopia (myopic in the right eye); astigmatism in both eyes. Wears glasses.


Nexium, 20mg, 2x per day. Zantac 30mg, 2x per day.


October 24, 2007: ABR diagnosing mild/moderate bilateral hearing loss.

February 2008: Genetics evaluation: Negative for Connexin 26, Connexin 30, and mitochondrial A1555G mutations (non-syndromic hearing loss panel).

March 18, 2008: sedated CT scan of the inner ear (normal).

March 27, 2008: PE tubes placed (set #1).

August 11, 2008: Sedated MRI of the inner ear (normal).

December 2008: Second set of PE tubes placed.

May 2009: Gastric emptying scintiscan (normal for reflux/mild delayed gastric emptying)

June 1, 2009: Cystoscopy and ablation of posterior urethral valves.

July 9, 2009: Upper GI barium (normal).

August 2009: Endoscopy, 24 hour pH/impedence probe (inpatient: severe GERD detected).

January 20, 2010: Sleep study #1: severe central apnea and severe obstructive apnea.

February 10, 2010: Sleep-deprived EEG (20 minute EEG) for staring spells (normal).

March 23, 2010: Sedated MRI for central sleep apnea (normal).

April 13, 2010: Tonsillectomy, Adenoidectomy, PE Tube Set #3 (inpatient PICU monitoring).

August 2010: Sleep study #2: Severe obstructive sleep apnea, mild central sleep apnea.

October 12, 2010: PE tube set #4 (long term “T” tubes placed), Bronchoscopy: Severe Laryngomalacia diagnosed.

November 10, 2010: 24 hour Pharyngeal pH probe: reflux persistent despite PPI treatment. Zantac added to medication regime to stop reflux.

December 3, 2010: Echocardiogram and EKG (normal).

December 2010: 24 hour Pharyngeal pH probe: some reflux still noted with PPI and H2 blocker treatment.

December 14, 2010: Supraglottoplasty and lingual tonsillectomy (inpatient, PICU).

May 3, 2011: Sleep study #3. Central sleep apnea resolved. Moderate obstructive sleep apnea, persistent despite tonsillectomy/adenoidectomy and supraglottoplasty. Fundoplication recommended by ENT. Bi-Pap or C-Pap evaluation recommended by sleep neurologist. Upper GI barium scheduled for 06/27/11; Sleep neuro exam scheduled for 06/21/11; trying to get into Cleveland Clinic for a second opinion from a pediatric geneticist.

Our reasoning for choosing the Cleveland Clinic for the genetics evaluation site was written as follows:

"Due to the repeated surgical procedures, sleep apnea, chronic ear infections, chronic sinusitis, severe GERD (unresponsive to medical therapy), delayed gastric emptying, hypotonia, urology, vision and congenital hearing issues, we are concerned that there may be a single cause underlying the various symptoms that Nolan has experienced. Prior to consenting to additional surgical measures or procedures (recommended fundoplication; C-Pap), we would like to ensure that no genetic syndrome underlies his various issues. The Cleveland Clinic has a renowned genetics program, including a hearing-loss genetics subunit, which is unrivaled in the area. If there is a syndrome or other “issue” at play, we feel confident the Cleveland Clinic will be able to discover the cause – if there is no underlying cause, then we will feel confident with their assessment that his medical history is caused by separate (unrelated) incidents."

Hopefully the insurance company's doctor will look at his history and approve another genetics consultation without giving us a lot of hassle. Our pediatrician's office has been wonderful and is supportive of us getting a second opinion.

The letter should be faxed to the insurance company today, and we should have an authorization approval within 30 days: once the authorization comes through, the Cleveland Clinic will schedule our appointment with the geneticist. This will likely occur in August or September, as it takes a while to get into the Clinic.

In the meantime, our biggest worry is Nolan's fatigue and general "droopiness." This is due to his hypotonia (we think) - the hypotonia affects his upper body and arms the worst; his feet and legs seem generally unaffected. He still has the head lag, though his development hasn't been delayed by it. Still, the effect can be striking in the afternoons. He fatigues while walking, and gets very droopy while sitting or standing.

Nolan, a little droopy in the afternoon

There is a part of me that wonders if his muscle tone issues underlie most of his other problems. The GI tract is made of smooth muscle, so the slower motility and the reflux would be affected by a muscle tone problem. His obstructive apnea could be due to low tone, in addition to reflux and the persistent laryngomalacia. For kids with late-onset laryngomalacia and muscle tone issues, the airway collapse is due to an intrinsic weakness in the system.

We're extremely hopeful that the geneticist at the Cleveland Clinic will be able to piece this together - and if she can't, that she will be able to reassure us that these issues are not connected and that nothing new will pop up to surprise us in the future.

1 comment:

TheSweetOne said...

Nolan's fatigue has a definite tie to hypotonia. The low muscle tone means every part of his body has to help compensate. Supporting himself for simple tasks that we take for granted - like sitting up for example - take more muscle work to accomplish and maintain. We don't see it in effect, we just see the effects of it if you know what I mean. I don't see Lauren working hard to sit for long periods of time but if she does, we see her fatigue later in the day. I think there is also documentation out there for a relationship between hypotonia and obstructive sleep apnea... good luck! Having been through genetics, I really hope you get in. It can really help shed light and clarify future issues. Fingers are crossed for you!