ROHHAD 15 Years Later

Hi everyone. It's been a long time since I sat and wrote about our daughter's extremely rare disease diagnosis. Literally 15 years and no there is still no advancement made nor any recognition of the disease other than thro

ugh the dedicated parents of ROHHAD children, ROHHAD Association, and raredisease.org.  With Rare Disease Day coming up next Monday, February 28th, it was asked if parents wouldn't mind sharing their stories. Well, let's do this:

We lived in beautiful sunny California. I was working at Sole Technology and the hubby worked for C1rca. Some reason we loved shoes I guess, ha ha. 

At age 24 I was diagnosed with endometriosis with wonderful fibroid tumors.  Fantastic (I'm a bit sarcastic).  For over two years we tried and tried to get pregnant. When I say tried I mean tried. To where it was not fun but I felt like an egg incubator. I had a timer that would alert me when I was ovulating and was constantly checking my temperature. This is not romantic especially after over two years!  To no avail the doctor gave me two more months to get pregnant. If I didn't they would induce menopause to stop my endometriosis. So we decided to say #!$% it and get drunk.  Six weeks later I went to the doctor ready to begin menopause at age 27. MIRACLE.  Doctor calls to tell me not to take the medication that I'm pregnant!!  

Haven was a very difficult pregnancy. At 3 months I started bleeding heavily and was completely freaked out. What was going on???  This is my first and after working so hard to get pregnant there was no way I was going to miscarry.  Well I was put on bed rest. I would eventually be taken in to the hospital after almost miscarrying three more times to find out I was in labor.  No way. I was only six months pregnant. I was told no more getting up or doing anything strenuous. I practically stayed in bed for another 3 months and went into labor the day they said she would be born.  January 26. 2004, I became a mom. 

She was our first child. The day we found out we were pregnant both of my husband's parents told us they were moving out of state. His mom moved to Virginia and his dad moved to Arizona.  I was concerned about being stuck on the west coast with no help and all of my family on the east side. 

Haven was our first born but she had a beautiful half sister to grow up with. Kendall loved on Haven when they were little and they would play constantly when Kendall would visit. Her sister was with her to enjoy her first few years and help her develop. With Kendall being deaf it was great to teach Haven sign language to communicate before she could even talk. They had a great relationship. I was best friends with my husband's ex-wife and she even helped to take care of Haven. Haven practically lived half her younger years with them and Kendall's grandma was Haven's grandma. All was great in the land.  

At around age one I took Haven to her check up and expressed my concerns to her doctor.  I remember every detail of this visit clearly. I went over all the normal stuff. She was developing on schedule but there was something off. She had never cried. Not one time. She's only one, surely she should be crying. But never one tear. The doctor shrugged it off as not all kids are the same and I was being a paranoid first time mom. I agreed and went on with life. 

By age two Haven had gained almost 30lbs in a month and had been getting MRIs and bloodwork done but no answers.  During this year she would come to me quite often and say her belly hurt a lot. Always pointing in the same location. I decided to take her into the doctor when she started bleeding going to the restroom. Once again the doctor shooed us away saying she was constipated and pushing to hard. I was pissed and tired of doctors. My friend, Dana, was Haven's daycare during the week and she started noticing signs of autism in Haven. We began to watch it closer and you could definitely see it with a lot of OCD.  She's only two. Mind you at age two she still had never cried once in her life. 

Before age three Haven's left eye had turned out completely. Strabismus. We sent her in for another MRI of the brain.  I begged for a full body MRI but the doctor refused. Uuugggg. There is nothing wrong with the brain. Well this time they injected her in the leg with Ketamine. .........

Haven looked at me and slipped away

.....

I began screaming and the doctors came running.  She had died in my arms. No breathing. No waking up. My husband hadn't gotten to the hospital yet. I went ballistic on nurses and doctors getting myself kicked out of the hospital. I stood outside with security and I was threatening everyone. Finally my husband got there. He was allowed in but I had to stay outside. When I was finally let in I refused to look at that doctor. My daughter came in for an MRI and now she's on a ventilator barely hanging on.

Once Haven came home I gave my husband an ultimatum.  I was moving to Maryland with Haven to get her into Hopkins. He could stay in CA or he could come with me. At the time I didn't care which he chose. Luckily he came with me.  

We were in Maryland only 10 days when Haven had a 45 minute Grand Mal seizure. I she was taken to a close hospital who did a CT scan and came out to tell us there was nothing they could do and that they had called Hopkins to send a transport and she'd be seeing the specialist there. Off we went....

Haven stayed at Hopkins for about three months off and on doing test after test. Two days before Christmas we received a phone call from her Endocrinology doctor. Haven has cancer and the tumor is in her abdomen and it's very large.  She was born with it. 

WTF????

If California had only listened to me we could have found this three years ago.  Sadly we celebrated Christmas and Kendall was able to join us. Little did we know this would be the last time we saw Kendall. 

Haven was needing surgery to remove the tumor and to start chemotherapy. I convinced the doctors to wait until after her fourth birthday so she could celebrate with family one last time. They waited three weeks and then we had the surgery. All of her grandparents came to be with her at the hospital. The surgery took over 14 hours. It was more involved and wrapped through the spine. They also checked her bone marrow at this time. Recovery was an extremely long and stressful process. I was lucky to be working for Under Armour at this time and they let me work from the hospital. 

After the surgery we were called into the hospital to meet with her Endocrinology doctor and it's now April 2008.  Four months after the Neuroblastoma was discovered that we are told she has ROHHAD Syndrome.  I was in denial and fought with that doctor. During one argument I remember him standing up and saying "the cancer won't kill her, that's the easy part. ROHHAD is going to kill her".  Then he walked out. I was in shock. 

Our adventure with cancer and ROHHAD now starts. What is this weird disease??

ROHHAD SYNDROME: Rapid-onset Obesity, Hypothalamic dysfunction, Hypoventilation, Autonomic Dysregulation 

It is so rare that our doctors were saying Haven is the 31st child in the WORLD to be documented at that time. And THERE IS NO CURE!

Essentially we were told it's a brain damage except you can't visibly see the damage on the brain. But there were lots of symptoms that come with this disease. So we could only treat each symptom. Bring in the following specialists: Oncology, Endocrinology, Pulmonary, Neurology, and Cardiology. This would become our life. 

Over the next few years Haven would undergo numerous amounts of chemotherapy. We started with low dose Cytoxin a couple times a week with four days of IVIG. We did this for about four months. Then we took a break to see what her body would do. We then went to Cyclosporin with the daily IVIG. I really disliked this stuff. Plus it made her so hairy she looked like an ape. Her back had so much hair.  Then we moved on to Rituximab.  At the time it was a very new chemotherapy with not a lot of info on kids using it.  We did four doses. The cancer was gone but we were still dealing with ROHHAD. Luckily I was able to find others in the world to talk to about it all. I've always called them the ROHHAD moms. 

After about a year of low dose Cytoxin, Cyclosporin, Rituximab, IVIG, and other chemos, we heard of a possible treatment. Only thing is it had been done for any disease except Muscular Sclerosis. So it was extremely experimental and we would be the first to try it. It's called Rev-Immune.  And it's done with a high dose Cytoxin article here.  It took us about six months to get it approved to do on Haven. 

The hope with this treatment wasn't to cure Haven of ROHHAD because there is no cure. Instead it was to wipe out her immune system and give her a new immune system. This was to hopefully stop the progression of the symptoms she already had and to not develop new symptoms. With her being the first to try it there was no way of knowing if it would work or not.