Our Blog

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Meet Kouya One of Our Inspiring ROHHAD Warriors – this is his Rare Reality written by his mum for rare disease awareness day 2019

Meet Kouya one of our Inspiring ROHHAD Warriors, this blog was written by his mum for rare disease awareness day 2019 this is Kouya #RareReality

“KOUYA was born in January 2011. A little petite baby weighing 2,800 g height 49 cm he was very healthy. He was walking at 10 months old and was a fast learner so I thought the motor nerves were excellent.

At 2 years and 7 months, he was infected with Hand-Foot and Mouth Disease, He could not eat anything and could not drink for three days. Like most other children it ran its course and he was cured in about a week. Physical abnormalities in Kouya relating to his ROHHAD began about a month after his hand foot and mouth disease had cleared up.

He became constipated to begin with and The expression of KOUYA gradually became cloudy. He became introverted and had not played much outside. Because his hands and feet became cold and the color got worse, I visited the hospital but I could not understand the cause. Obesity also accelerated at the same time. In the following month, the left eye became divergent strabismus and I visited the hospital, but I did not know the cause. At the age of 3, he was hospitalized due to chronic constipation. At this time, they did various tests and noticed intestinal obstruction, but the doctors did not know the cause.

The smile gradually disappeared from KOUYA almost completely and he had Multiple things he had to deal with daily, he would sweat profusely, his high heart rate, then it would swing to a low heart rate, constant thirst and hypothermia.
KOUYA would get very tired, and his personality became angry and aggressive. It must have been so hard and difficult for him to experience such changes to his body and nobody know why. It became difficult to get along with his friends and my friends and gradually we became isolated.

He was diagnosed autism and is on the spectrum. When I thought it could not get any worse aged 3 years years and 10 months, KOUYA collapsed with hallucinations and febrile convulsions. He was rushed to hospital by ambulance and admitted. Eventually he was diagnosed with ROHHAD syndrome, and from that day until his last day he will need a ventilator to sustain his life.

After the diagnosis of ROHHAD syndrome, KOUYA had to endure a lot of things, and desperately tried to overcome this horrible disease. Looking for sports that can make use of his strength and to build him up, KOUYA found and chose Rugby. He works hard every week to practice Rugby and has done since the first day he went to the coaching session.
The future dream of KOUYA is to become a Rugby player. He said Rugby players are so cool and strong.

KOUYA is currently going to elementary school and we try to keep his life as similar to the other children as we can. He does move his body as much as he can in physical education, he joins in when they sing songs, he likes playing musical instruments in music, and works diligently on his studies.
All of this is difficult for him to do and sometimes can be too much but he gives it his all. KOUYA lives with various risks and life threatening risks to him. What we pay close attention to most carefully is that the oxygen concentration in the body may be lower than it should be if his body is moving and also not moving. For that reason, we installed home oxygen concentrators and in the class. Giving him oxygen to inhale and encourage breaths is working for him just now. I am so grateful to everyone who helped set up this machine.

Having ROHHAD does make you think that various things will be restricted in the future. But our family wants KOUYA to live as much as possible the same life as an ordinary child. Kouya wants this too.

With the families full cooperation, he works hard too at his diet to help keep his future dreams of being a rugby player alive for a long time to come.

It is extremely difficult for ROHHAD patients to loose weight, but KOUYA succeeded in losing 6 kg in six months. I would like to support KOUYA who will challenge without giving up anything in the future. I am proud of KOUYA. This love does not change.

In order to find a cure, we need your help.
Please please cooperate and support the charity if you can and thank you for your time.”

#RareReality
#RareDiseaseDay 2019
#ShareYourRare
#RohhadAwareness
#GoMadForROHHAD
#FindACure

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Meet Chance One of Our Inspiring ROHHAD Warriors- blog written by his mum Amy this is his Rare Reality

Meet Chance one of our Inspiring ROHHAD Warriors this blog was written by his mum Amy to help raise awareness for Rare Disease Day 2019 – This is Chances #RareReality

“In September of 2003 my life changed drastically. I gave birth to a miracle! Chance was born with several rare disorders including Septo Optic Dysplasia, Panhypopituitarism, Cerebral palsy, Agenesis of the Corpus Callosum and Bilateral Periventricular Nodular Heterotopia.
After a month’s stay in the NICU, I brought this fragile little boy home. How was I going to take care of him and give him the best opportunity at a wonderful life? But Chance taught me more than I would ever learn in medical books, on medical websites or from his doctors. He taught me how to LIVE! How to enjoy the little things in life and truly learn to not sweat the small stuff!

In 2006, when Chance was 3 years old, he began to gain weight at a rapid rate. In June he was 42lbs and by December he was nearly 100 lbs. I researched, hunted, begged and pleaded with doctors of all specialties to help me figure out what was going on with him. No one could give me an answer.

Chance continued to gain weight just not at such a rapid pace. In 2011, Chance began to have issues breathing. It was like he forgot to breath and his lips would turn purplish blue and he’d nearly pass out. I consulted his doctors and after a friend showed me a website about ROHHAD I took that information to his endocrinologist. He consulted with a pulmonologist and they agreed that they believe ROHHAD is the cause for the weight gain as well as the breathing issues. Thus, he was diagnosed clinically with ROHHAD (Rapid Onset Obesity with Hypothalamic Dysregulation, Hypoventilation, and Autonomic Dysregulation.)

Over the past 8 years Chance has continued to gain weight despite special diets and medication that should have at least slowed down it down. It’s a daily battle to maintain homeostasis within his body. He can’t regulate his body temperature, he deals with adrenal insufficiency in which a common cold could land him in the hospital, he is developmentally delayed and is not ambulatory and is in a wheelchair.

Despite all these things stacked against him, Chance has thrived and flourished into a smart, handsome young man (He’s 15, OMG!) who has a heart of gold and a deeply compassionate soul! He is my inspiration in all that I do and all that I am.

Chance is currently a straight A student in the 10th grade at Ballard Memorial High School where his older brother and sister graduated from. He is in a special needs class, but he is pulled out to attend a general education World Civilization class. Our school and community have been amazing at including him in whatever he wishes to do.
He aspires to be a police officer or anything that has to do with the police force. He loves watching videos on YouTube, playing with his mardi gras beads and collecting Hot Wheels. He loves his family, friends, teachers and school. He knows he’s smart, loves his personality and his baby blue eyes. Once you meet him, your life will forever be changed.

ROHHAD desperately needs more research! With 100 or so children affected by its monstrous symptoms currently, it’s so rare it just doesn’t get the publicity it needs. The ROHHAD Association is currently working hard to raise money to help gain this needed research. We have the help of Robert Downey Jr. in bringing our needs to the front of the world so more people know about our precious children. If you are reading this and want to help go to www.rohhadassociation.com ”

#RareReality
#ShareYourRare
#GoMadForROHHAD
#ROHHADAwareness
#FindACure

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Meet Harper, One of Our Inspiring ROHHAD Warriors, This is her Rare Reality Blog written by Mum Chelsey

Meet Harper one of our Inspiring ROHHAD Warriors, this blog was written by her mum Chelsey to help raise awareness for Rare Disease Day 2019 this is Harpers #RareReality

“Harper Pursley is 6 years old and lives in Rathdrum, Idaho. Shortly after her 4th birthday we started noticing changes in her. She gained about 25 pounds in 4 months, she was exhausted all the time, and she presented with severe social anxiety. We contacted her primary care provider, and unlike most of our other ROHHAD kids, he listened to me and didn’t play off her symptoms as a “growth spurt” or us over feeding her.

We started testing for everything our doctor could think of…blood draws, MRIs, echocardiogram, ultrasound, xrays, and what finally gave us our first real glimpse at our diagnosis was a sleep study. Her study showed Harper’s O2 levels dropping into the 50s. That’s when Harper’s doctor first told us he thought it may be ROHHAD.

The next day we were sent home with an oxygen concentrator and instructed to use it whenever Harper slept. Two days after that, I walked in her room to Harper making almost a choking noise. She was unresponsive and it took us 15 minutes to get her to open her eyes. We were then transported to our local ER where the pediatric specialist on call made the decision to life flight Harper to Seattle Children’s hospital to get our formal diagnosis and initiate her Bipap.

As crazy as those next days were, there wasn’t a better place for us to be. We were set up with a pulmonologist and an endocrinologist who we absolutely love. Harper was initiated on bipap without issue, though her settings are quite high. Our plan was travel to Seattle everything 3 months for sleep study appointments with our specialists, and multiple tests to check for any abnormalities.

Everything was going somewhat smoothly, only small hiccups here and there, but her sodium was always an issues. In May of 2018 Harper became lethargic at daycare and could not walk properly. I immediately took her to our local ER where we found she had a massive drop in sodium. From there we transported to the local children’s hospital where she had multiple grand mal seizures before she was sedated then intubated. After this stay, thankfully we have not had a drop again…but unfortunately with ROHHAD it is only a matter of time.

Our struggle is not just when we have big issues that cause hospital stays. Our struggle is EVERY DAY. Every day I wonder if this is it. Because honestly it could be. Our kids lives are cut short with no prior warning. If we hadn’t been at a hospital when Harper started seizing she could be gone right now. My daughter was only saved because we were at the right place at the right time. Next time I may not be so lucky.

Our kids do not deserve this. These parents hurt. We hide and silently cry so our kids don’t have to see us. We are strong so our kids believe in themselves, so they can be strong. Our children need help. These families need help and support. We need a cure for this terrible disease. Please help us Find A Cure.”

#HopeForHarper #FightWithHarper
#RareReality
#GoMadForROHHAD
#RareDiseaseDay 2019
#FindACure
#RohhadAwareness
#ShareYourRare

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