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.

CLICK CHART TO SEE THE FULL SPREADSHEET



CLICK CHART TO SEE THE FULL SPREADSHEET


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.

I PRAY MY DAUGHTER NEVER EXPERIENCES HYPOVENTILATION AND THAT THIS IS AS FAR AS HER ROHHAD DAMAGE GOES!

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!

ROHHAD NEEDS HELP

I can't handle the pain and suffering from families and having no where to turn because no one knows about us. We don't have an organization or a foundation to turn to. I feel I must try to find a way to begin a non-profit organization or a foundation to help our families. I know MANY ROHHAD families now and have talked to quite a few mom's. Desperate to save their child and not even understand what they are trying to save them from.

NO CURE - NO TREATMENT - NO HELP

Many of us spend the first year being told by doctors that what ever it is it is the fault of the parents. We lose this time trying to diagnose our child and we lose key areas needed for our child to function.

Shelby lived in Arizona....she is 7 years old. She traveled to California in hopes of help and was diagnosed with ROHHAD but the doctors didn't know anything. Now they have moved to Illinois in hope of something with Dr. Weese-Mayer and her team. Shelby's insurance is almost out and they have no where left to turn.

Nikki spent almost an entire year in the hospital away from her family.

Sophia has had pneumonia 5 times this year and more and more symptoms are popping up and the family is left defensless against stopping her from slowly getting worse.

Mason is testing medication in hopes of helping him be able to breathe on his own again

Haven has spent two years trying different chemos in hopes of stopping the disease and offering hope for other families

Josh is living with a vent and pacer to help him breathe and lead a normal life

Denika is has been forced to leave her home to stay in a hospital away from her family in hopes of saving her

Noreen is constantly fighting infections and her condition worsens as time goes on

There are more families than even listed above. We only have 40 - 50 of us in the ENTIRE world. How do you get anyone to listen to a such a small group?


Are we supposed to sit here and let our children slip away because no one knows about our disease. Everytime I go to bed at night I stress that Haven may not wake up in the morning. I don't want her sleep walking to stop - if I can hear her screaming or talking or walking around I at least know she's breathing.

I'm asking for help from anyone who may know how to start an organization that can help our children. Should I have a web site created? Should I have a forum? Do I need an attorney that I can't afford because I just spent $2,300 on medical expenses from the past few months?

There are two more girls about to go on a trach/vent to breathe....age 5 and 7.........where do we go?