Friday, November 20, 2009

ROHHAD - Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation Neural Tumor

When my daughter was diagnosed with ROHHAD I was adamantly opposed to the diagnosis and I got pretty pissed off when I was told. Because only 30 children in the WORLD had this and how could my daughter have it. I called many hospitals asking for information (UCLA, Ceder Sinai, Mayo Clinic, St. Jude.....) and none of them had heard of this disease. I checked NORD and GARD and nothing. Finally I found another child, Josh Wooten, and contacted his mother for more info. Then I found a comment written on Vanessa's site from Julie, Mason's mom. She emailed me and we began to talk.

I really felt lost and alone with this new diagnosis. I couldn't find anything on the internet about ROHHAD and the top hospitals I called couldn't help me. There was only one group of doctors that had done any research. I read the research paper over and over and created a spreadsheet listing the exact symptoms and ages the doctors had noted. I wanted to compare for myself all of the symptoms that Haven had. I looked through Haven's books where I made my own notes. Once I filled this out I sat in disbelief that my daughter could have such a terrifying disease and no where to go.

Below is the spreadsheet.


ROHHAD Symptoms


I probably would've gone insane if I hadn't met these two moms. It was only a couple months later that another mom found me. This was Maureen, Sophia's mom.

At this point my daughter's Pediatrician also found many articles written about ROHHAD and another reasearch paper from some doctors in France. They noted 6 children with ROHHAD also had Ganglioneuroblastoma Cancer and that this tumor comes with ROHHAD. After I saw this I checked the spreadsheet and 1/3 of the patients in this compilation had the same tumor. But a rebuttal stated that the tumor should not be the ultimate decision in diagnosing ROHHAD as a child could be misdiagnosed and have fatal consequences. So instead of ROHHADNET it has remained ROHHAD.

Now I have been told that there is some disbelief that my daughter even has ROHHAD because she is not on a trach and has not stopped breathing. I call this BS and a big load of it. As noted to the doctors in France to not only look for a tumor to diagnose I don't believe you should only look for Hypoventilation to diagnose. Especially when it would seem that Hypoventilation doesn't usually occur until between ages 6-8 years old. That would mean I would've had to ignore my daughters symptoms for another year to two years. At that point it could and probably would have been too late and my daughter may not be with me.

IF we were to only be looking at children with Hypoventilation and on a trach why call the disease ROHHAD? Why not call it Hypoventilation Syndrome?

I do not believe you should say a child doesn't have a syndrome because they do not have one specific symptom when they exhibit a majority of the symptoms in the proper age range. So with the tumor - no a child shouldn't be discredited because they don't have a tumor or that would mean only 6 of these children REALLY have ROHHAD. And you shouldn't say only children on a trach have ROHHAD because that would be throwing out all of the other above symptoms. AND my daughter hasn't even reached the proposed age at when Hypoventilation should happen.....nor am I willing to wait for it to happen.


Now rather than discredit me, my child, or our doctors I say you give me a little credit for bringing this unknown disease to the public eye as best that I can!


  1. My name is Megan. I live in Idaho. My husbands cousin was diagnosed with ROHHAD about a month ago. She is 4 years old, and yesterday while on the way to the hospital for a check up, she stopped breathing and her heart stopped. Fortunately the doctors were able to get her heart going again. I feel that a lot more research needs to be done on this disease. For months doctors tried to tell her mom that she was obese and overfed. It took them months and many hospital stays to finally acknowledge all the symptoms. After yesterdays scare I felt it was time to reach out to others that are going through the same thing. Our aunt has had to quit her job, and I am hoping to find some support for her. I would love to get in touch with anyone that can help, or get pointed in the right direction to get support. My e-mail is

  2. My name is Shannon and my daughter Alexis (Lexi) was diagnosed a year and a half ago. She just passed away on February 6, 2011. I struggled as a single mom for years trying to find out what was wrong with my child. Every few months a new diagnosis but no overall disease could be found until her pulmonologist at Children's Hospital in Omaha Nebraska figured it out. This is a horrible disease and I would like to get involved in any way I can to spread the word and educate people. I also could really use some support as I have never met another parent of a child with ROHHAD. My contact email is Please contact me with information on how to network with other ROHHAD families. God bless