ROHHAD Association

Banner’s Blog written by his mama for Rare Disease Awareness Day 2019 this is his Rare Reality

Meet Banner Mazza Sears, born February 7th, 2015. 38 weeks, 6 pound 14oz 19 1/12 inches. Banner was an energetic and happy baby. Although shortly before his 2nd birthday, he began to have odd bruising, excessive black eyes, and wounds that would not stop bleeding. We were admitted to Hasbro Children's and diagnosed with ITP. Banners platelet count was 15,000, when the average person, on the low side has 150,000. They believed this was brought on by an average virus. After one treatment of IVIG, and many blood tests for the next year, we were almost clear of our hospital trips.

A week before his 3rd Banner was diagnosed with influenza A. Up until this point Banner was always small for his age, at almost 3 he was still wearing 2t clothing. Due to the Flu, we pushed back his 3 year appointment 1 month. At that appointment, his paediatrician said he was 4 or 5 pounds overweight. So at that point, our family went out of our way to make sure diet and exercise were top priorities. After a few months of serious healthy eating, and nothing but continued weight gain, as of June roughly 20 lbs, (with no other symptoms easily recognized) we switched endocrinologists and saw someone at Hasbro.

After our first appointment, even though we had planned many tests to rule out any other diagnosis, our doctor mentioned in his notes to our paediatrician, this may possibly be ROHHAD. The following month brought tests for cortisol, pituitary gland, Cushings, Prader Willi and more, and ended with a scheduled MRI.

Two weeks before the schedule. MRI, I was awoken by some noises that sounded like Banner was talking in his sleep, or possibly having a bad dream. It was 5am so I almost didn’t go in, afraid he may not fall back to sleep if I did. Something told me in my gut to check on him. When i went in, Banner was in respiratory failure. We called the ambulance, they came and began CPR and immediately bagged him. He had a temp of 106. This was brought on by the common cold virus.

At this point, in Sept of 2018 we were officially diagnosed with ROHHAD. Banner had hypo-ventilated. We went home 16 days later on BiPap ventilation. In the first week of October he was admitted again with pneumonia. After that 8 day recovery, we decided to come to Boston children’s. They have 6 cases of this diagnosis that they have managed and treated, it seemed the best choice. Our initial appointments showed that with Banners case, an immune system compromise, always followed and huge show of his ROHHAD symptoms. We decided now was a good time to remove Banners tumour that was resting near his spine.

We were admitted December 4th for tumour resection and we are still here at Boston Children’s now 11 weeks later and will be for some more time to come. This is because Banners respiratory issues got so bad, and his CO2 levels were so high (140 awake, average is between 30 and high of 50) we had to go ahead with a tracheostomy. Banner has struggled with tracheitis, pneumonia and viral infections. On top of being 4 and not wanting to have tubes all over!

We are hoping to be heading home within the next couple of weeks once we can staff some home nursing hours. One of the hardest parts of this diagnosis, has been the change in his personality. Banners behaviour has become extremely aggressive at times, which can be hard to explain to friends and family, and also hard on your heart as Mama. There are times it appears you have flipped a switch, and its not my little boy I'm looking at. It's not his fault!! The part of his brain that helps with control is not functioning properly. Another cruel part of this disease and that is devastating.

Banner always manages to push through the bad times and kiss and make up. Banner is absolutely hilarious. He is such a ham, always making the staff laugh! He has an absolute fan club here in the MICU. He shouts from his room, hello! to all walking by. Invites them in to play with his guys (Marvel super hero figures) or cars, or to play Ghost busters on the tablet. Banner loves to play ball (he has a heck of an arm!) And, he also really enjoys just jumping around in his bed like a "crazy coconut"!!! There are still snuggle times and lots of hugs and 100 kisses, but Banner is easily frustrated because he is so limited. ROHHAD is a terminal diagnosis with no cure, and so far not a lot of research. None of us who are living with this daily, have any idea what to expect for our futures, or will we even have a long future.

There is no way to plan, or treat this disease. It is just management of symptoms. With only 100 cases worldwide there is no clear connection between our kids. They do not know yet if it is genetic, it would seem so unlikely to be environmental as kids from all different places all over the world have it. We need to raise awareness, and gain exposure. Our kids need us to advocate for them research into ROHHAD is urgently needed. Please help us by sharing the stories of our ROHHAD warriors. #BannerBrave #HulkSmashRohhad

1

Seohyun Blog Written for Rare Disease Awareness Day 2019 Rare Reality

Seohyun above before ROHHAD Syndrome

Let me introduce my beloved daughter, Seohyun.
Born lovely and beloved of the whole village.
She was a little girl who was healthy and energetic.

Before Seohyun reached the age of two years old
She began to struggle with her breathing and suddenly she always seemed to be sick and feeling sick. I took my beautiful daughter to many of our big hospitals, but nobody could understand what was wrong with her, they didn't know the cause.

Nine more months later we slowly began to get answers through extensive tests they discovered my daughter had a tumour on her kidney and a spinal cord.
We found out that it was a cancer called neuro endocrine tumour.

They had to Leave the cancer on her spine after the tumor resection as it was too risky to remove it all. Seohyun has had to have auto-controlled cell transplantation eight times, as well as chemotherapy, She also needed 12 doses of radiation and more medication.

For over a year, she has been holding up and seems to have developed the power to fight her diagnosis and her cancer.
But in the midst of such a hard struggle, our daughter continued to decline and have difficulty breathing and gaining weight that was causing serious problems within her body.

She suffers from neuromuscular degeneration and has severe difficulty adjusting her body temperature. I've watched ROHHAD syndrome almost destroy my child, her quality of life is severely affected.

The ROHHAD syndrome is something we have had to try and get used to as a family but it seriously effects us all. We see it as a very bad disease that's kept our daughter in hospital a lot and indoors.

She struggles so much going out she is so weak and has little muscle control, so she can't go out without a breathing tube, the rapid onset obesity does not help and she feels a lot of leg pain. It's so difficult to move without a wheelchair. Our daughter can no longer go to school and it has really hindered her social life. Like other children, who can run around with your friends, my daughter cant do that anymore.

My lifelong wish is to Find A Cure, I do not want to see my daughter suffer like this, but this is her life until better treatments and a cure are found. Research is Vital and so important. Please help us find a cure and until then my daughter will continue to suffer for the rest of her life and have to stay home.

I pray we find a cure.

4

Blog by Chasity Jacobs ROHHAD Awareness 2019

Alayna Leigh Jacobs (Lani, 6) of Ripley (above before ROHHAD), Tennessee, bacame sick a month before her 3rd birthday. Prior to this, she was a happy, healthy, "normal" kid. The day she became sick, we thought she was having an asthma attack. We took her to a local hospital, where we were told it was probably an asthma attack plus maybe something viral. They told us to follow up with her primary care.

The next day we took her in to discover her temperature was around 87 degrees. They sent her to the local hospital to be flown out to Le Bonheur Children's Hospital in Memphis, TN, almost 2 hours away. When we finally got there we were met by 2 chaplains who took us to the trauma unit. They had to intubate her. They had no idea what was wrong. They told us to call in our family, and that she probably wouldn't make it through the night. She shocked everyone and came off the vent. However, every time she would fall asleep she would stop breathing. They intubated her again, and did some research.

They came back in her ICU room with something printed from the internet and told us that she had all of the symptoms of ROHHAD. They had never seen it before. Neither had St. Jude Children's hospital. After finding this out, they continued running tests on her to discover that she had cancerous tumors. We were sent over to St. Jude to have her cancer removed. After around 3 months, we came home. Since then, she has slowly gotten worse. She had a pacemaker put in to keep her heart from stopping, a gtube to feed her, and a trach and full time ventilator to make her breath. She has seizures, can no longer walk or eat, swelling in her brain, and several other issues.

She was placed on hospice and given 6 months to live. That has been over a year ago. She is now getting IVIG infusions every month to try and help her autonomic issues.

Lani knows she is different. She wants to go to school so bad but she just cannot. Her immune system is so weak. She occasionally gets to go to our church, First Apostolic, in our hometown but other than that she only goes to her specialists.

Even after all Lani has been through, she still puts on a smile that can make anyone's day brighter. She loves with her whole heart. She enjoys coloring, playing with blocks and stickers, and watching movies on her iPad. She loves all things disney, and really enjoyed her make a wish trip to Disney World.

ROHHAD has affected every aspect of our lives. Lani has 24 hour nursing in our home. She has a doctor appointment almost every week with one of her specialists. This is her life. This is what she has dealt with for almost 4 years now. There have been so many hospital stays and time away from our home. She endures so much, more than most people could ever imagine. This is why research for ROHHAD is so important. We must find a cure. Too many precious children have died from this. And every day that passes, I thank God for another day with Lani. But that fear lingers. Every smile I see from her, I wonder if it will be the last. Every time she gets sick, I fear she won't make it through. This fear is real for lots of parents who see their child suffer from ROHHAD. we MUST find a cure.

Alayna after ROHHAD

This Campaign has ended. No more pledges can be made.