congenital central hypoventilation syndrome
Hello,
New to this site, I have a 12 month old boy who was born with enlarged ventricles diagnosed as Hydro but after birth was cleared of any shunt etc... We went through some bumps in his development mostly in his gross motor until about a month ago right before his 1st birthday he had an ALTE.. I found him in his crib blue and not breathing... we were rushed to the ER where we ran through EVERY test you can imagine and we left with "sleep apnea" a Bi Pap machine and a prayer.. (in a local hospital for about 2 weeks then at NY Presby for almost 3 weeks..) We were home managing when he had 3 of these episodes of apnea where his saturation levels dropped down to 11 within 5 hours so we are AGAIN landed in the PICU.... We have been tested for Congenital Central Hypoventialtion, this test takes about 6 weeks to come back..Anyone with any similar events or experience?? Our PICU doc says the prognosis would be ventilator 24 hours a day.. I cant seem to wrap my brain around that, what kinda of life can a kid lead from there??
Sorry for my grammar etc this is the second time I have been on here.. 
Re: congenital central hypoventilation syndrome
Probably because they have a special needs child, but they do not have the same diagnosis as in your post title and therefore do not have anything to offer you in terms of information, but wanted to learn more about what your post title/diagnosis means.
It is a pretty diverse group, the board moves kinda slow and moms that have children with rare a diagnosis do not check in every day. If your post is not answered, don't take it personally. It might take a couple of days for someone with a similar experience or diagnosis to see and reply to your title. People tend to read only the posts that are similar to their child's dx.
Welcome to the group nobody else wanted to join either. Hugs.
DD2 has obstructive sleep apnea (among other things). We've never had an episode like this while she's been sleeping, though we did used to do the heimlich pretty regularly. We roomed with a little guy in the step-down unit (we were together for over a month) who had very similar sounding issues. It was scary being in the next room over. . . I can't imagine how scary this must have been for you!
When DD had her trach, she was able to come home without a vent. I do remember, though, how frustrating it was to deal with all of the cords and tubing (and making sure the water wasn't going the wrong way) everytime I wanted to pick DD up. And that periodically one of the links would pop apart from each other. Through my work, I've seen other kids who were on a 24-7 vent be able to get "up and move around" by using something with wheels-- a bassinet or tumbleform/tomato with base for a younger child or a wheelchair for an older child. There are some other Mom's on here who have kids with O2, but I can't remember if they have a vent or not...?
Where is DS right now? Are you guys still admitted? Do you have nursing set up yet? Its pretty standard that you are required to have nursing set up if you leave a hospital with a trach or vent. Its akward at first, but if you can find the right person, could make yours and DS quality of life so much better.
You'll be in my thoughts.
Thanks
we are still in the hospital now, we were at Columbia (NYC), the morgan stanley childrens hospital and we were sent home with a bi pap and then the episodes started to spiral out of control so we are back at our local hospital in NJ and taking it day by day.. Tonight we have a sleep study so I am hoping they find something out, the test for the CCHS takes about 6 weeks to come back and our sleep specialists are convinced that since they didnt happen during sleep periods that it isnt OSA or CSA.. Thank you for the thoughts and experiences.. I just wish we would find out what is going on so I can try to find someway to cope or educate myself so I can help him I feel so helpless..
No real advice for you, however this is what they thought my daughter had at birth. She was doing the exact same thing if she was off the vent. She ended up not having it, but very scary.
They also tested her for Ondines Syndrome. You may want to look that up as well. Possibly ask your doctors??
Good luck!
Hello, I am a lurker on this board from the August 2012 mom board. I am a registered nurse at children's hospital Los Angeles and wanted you to know that I have cared for several children with congenital hypoventilation syndrome. Our hospital has done extensive research in caring for children with this syndrome also known as "Ondines curse". Check out the link below to see how it is treated and read a couple of stories of families going through the same thing like monique and Johnny.
I am so sorry that your family has to go through this difficult time. I hope this link helps give you more information.
https://www.chla.org/site/c.ipINKTOAJsG/b.4805015/
My daughter has this disease she is now 11yrs please contact me.
shelleycolquitt@hotmail.com
confessionsofasleepdeprivedmomma.blogspot.com