Report from Doctor in Houston about Joshua's testing

I know so many of you are curious about the results of the tests Joshua had just before Christmas in Houston. I just got an email from one of the doctors there with these results/plan of action and wanted to share them with you:

----- Forwarded Message ----
From: "Pepiak, Derek"
To: james wooten
Sent: Tuesday, February 24, 2009 2:35:21 PM
Subject: RE: Joshua Wooten

Dr. Koenig has finished reviewing all of Joshua's labs, MRIs, EEGs, etc. Here's a copy of here most recent note in his chart for you and any of his physicians there:

"Copies of medical records from San Antonio and results of Joshua's evaluation have been reviewed:

Medical records from Joshua's hospitalization in 2005 clearly demonstrate a picture of encephalitis or ADEM. He has an elevated CSF protein with a pattern on the MRI showing focal abnormalities in the right frontal lobe with diffuse meningeal enhancement.

Metabolic studies were normal, including: CSF neurotransmitters, Plasma amino acids, CSF amino acids, Urine organic acids, CSF cell count, CSF protein, ammonia level, Chemistries, plasma lactate. CSF protein was slightly elevated and plasma pyruvate was elevated. The significance of these results is unclear at this time.

EMG and Nerve Conduction Studies were normal.

MRI brain was reviewed with neuro-radiology (Dr. Hochhauser). It demonstrates some areas of gliosis, particularly in the right frontal lobe that are consistent with a prior diagnosis of ADEM or encephalitis.

24 hour Video EEG was reviewed with Dr. Gretchen Von Allment. It demonstrates occasional generalized bursts consistent with global brainstem dysfunction.

Based on the above findings, I believe that Joshua is suffering from central hypoventilation, likely secondary to the insult that occurred in 2005 (ADEM versus encephalitis) and agree with placement of a diagphragmatic pacemaker.
Mary Kay Koenig, MD"

Well that's all fine and dandy, you might say, but what does it mean? Basically what she is saying is that she believes that that he experienced an episode in 2005 of either encephalitis or ADEM that caused permanent damage to his brainstem and is currently resulting in central hypoventilation. Some people think that there is a genetic component to late onset CCHS or ROHHAD and that may be the case. However, in Joshua's case, it seem more likely that whatever occured in 2005 damaged his brainstem resulting in his current symptoms. Regardless of how it happened though, we think pacers are the way to go in the hopes of freeing Joshua from the ventilator, at least while awake. It is a slow process as the pacers are usually implanted one at a time (as Dr. Cox probably explained to you) and he would need further sleep studies for titration once the pacers are implanted and activated. Also, the Sleep Medicine physicians feel he may need to have another sleep study to truly assess his baseline as there were some problems with the study we did here. I will discuss with them further whether or not this is truly necessary.

Either way, we'd like to shoot for the beginning of June to get this done, if you'd still like to go forward with it. When is Joshua's last day of school? I will check with Dr. Cox to see if Joshua needs to be seen in their surgery clinic before proceeding or if his previous consultation was sufficient. Maybe by the end of the summer, we can decommission his ventilator cart!

Happy Mardi Gras!

--Derek


So what is ADEM?
The following is taken from the National Institute of Neurological Disorders and Stroke website:

What is Acute Disseminated Encephalomyelitis?

Acute disseminated encephalomyelitis (ADEM) is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages myelin – the protective covering of nerve fibers. It often follows viral infection, or less often, vaccination for measles, mumps, or rubella. The symptoms of ADEM come on quickly, beginning with encephalitis-like symptoms such as fever, fatigue, headache, nausea and vomiting, and in severe cases, seizures and coma. It may also damage white matter (brain tissue that takes its name from the white color of myelin), leading to neurological symptoms such as visual loss (due to inflammation of the optic nerve) in one or both eyes, weakness even to the point of paralysis, and difficulty coordinating voluntary muscle movements (such as those used in walking). ADEM is sometimes misdiagnosed as a severe first attack of multiple sclerosis (MS), since some of the symptoms of the two disorders, particularly those caused by white matter injury, may be similar. However, ADEM usually has symptoms of encephalitis (such as fever or coma), as well as symptoms of myelin damage (visual loss, paralysis), as opposed to MS, which doesn’t have encephalitis symptoms. In addition, ADEM usually consists of a single episode or attack, while MS features many attacks over the course of time. Doctors will often use imaging techniques, such as MRI (magnetic resonance imaging), to search for old and new lesions (areas of damage) on the brain. Old “inactive” brain lesions on MRI suggest that the condition may be MS rather than ADEM, since MS often causes brain lesions before symptoms become obvious. In rare situations, brain biopsy may show findings that allow differentiation between ADEM and severe, acute forms of MS. Children are more likely than adults to have ADEM.

Is there any treatment?

Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to intravenous corticosteroids such as methylprednisolone. When corticosteroids fail to work, plasmapheresis or intravenous immunoglobulin therapy has been shown to produce improvement. Additional treatment is symptomatic and supportive.

What is the prognosis?

Corticosteroid therapy can shorten the duration of neurological symptoms and halt further progression of the disease in the short term, but the long term prognosis for individuals with ADEM varies. For most, recovery begins within days, and half will recover completely. Others may have mild to moderate lifelong impairment. Severe cases of ADEM can be fatal. Some individuals who initially diagnosed as having ADEM will later be reclassified as MS, but there is currently no method to determine whom those individuals will be.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to ADEM in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure demyelinating disorders such as ADEM.