OT turned out i do not have sleep apnea

it turns out i have a rare disorder called congenital central hypoventilation syndrome

fordjx4000 wrote:it turns out i have a rare disorder called congenital hypoventilation syndrome

Plans for the future, treatment or cure?

i have to be on a ASV machine or a ventilator at night to keep me from dying in my sleep

fordjx4000 wrote:i have to be on a ASV machine or a ventilator at night to keep me from dying in my sleep

Sounds like a plan, good luck on your treatment. Jim

Sorry to hear about your awful condition... let us know how your therapy works out from time to time. BTW, noticing your avatar, I was wondering how you got on ASV looking as young as you do, I think that's kinda rare, but your medical condition would explain it. P.S. does that condition affect the neurological operation of the lungs/diaphragm or is it strictly a disorder based within the brain? (I tried to read a paper on it, but it was way over my head)

fordjx4000 wrote:i have to be on a ASV machine or a ventilator at night to keep me from dying in my sleep

I am glad they finally got to the root of your problem and have now prescribed the proper therapy.

You are in my prayers for having excellent results from the therapy.

Are they sure? Have they sequenced your Phox2b gene? If so, and you are sure you've got it, i'd make sure to get in contact with one of the large research institutes NIH, mass general, john hopkins. Given your age I would expect for there to be improved treatments on the horizon. They are finding that family members with the identical mutation have very different symptoms - some have no obvious signs of the disease even though they have the mutation. This indicates that this syndrome might be much more prevalent in the population at large but is often undiagnosed.

But with a rare genetic disease like this, most physicians will not have seen a single case in their careers.

You want to be treated by someone who is totally familiar with and familiar with any clinical trials.

Ondine's curse, also called congenital central hypo-ventilation syndrome (CCHS) or primary alveolar hypo-ventilation, is a respiratory disorder that is fatal if untreated. Persons afflicted with Ondine's curse classically suffer from respiratory arrest during sleep.

This is a very rare and serious form of central nervous system failure, involving an inborn failure of autonomic control of breathing. About 1 in 200,000 live born children have the condition. In 2006, there were only about 200 known cases worldwide. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.

CCHS susceptibility is not known to be affected by gender.

Ondine's curse is exhibited typically as a congenital disorder, but in rare circumstances, can also result from severe brain or spinal trauma (such as after an automobile accident, stroke, or as a complication of neurosurgery).

Patients generally require tracheotomies and lifetime mechanical ventilation on a ventilator in order to survive. However, it has now been shown that Biphasic Cuirass Ventilation can effectively be used without the need for a tracheotomy. Other potential treatments for Ondine's curse include oxygen therapy and medicine for stimulating the respiratory system. Currently problems arise with the extended use of ventilators including fatal infections and pneumonia.


I hoped this has helped you understand what CCHS is.

P.S.
I suffer from CCHS too...

Arigato gozaimasu,

Hitomi

This is interesting, I'm going to look it up. I've often suspected that my problem is not obstructive
but more about my autonomic breathing- brain not making my diaphragm work at night.
I wake up unable to breath until I focus and get it working. Maybe I was not diagnosed correctly?
-G