ROHHADAwareness

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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 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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Meet Colby One of our Inspiring ROHHAD Warriors, this is his Rare Reality Written by his mum Janka

Meet Colby Luis Palomeque Marica 8 years old from Pennsylvania USA, one of our Inspiring ROHHAD Warriors. This is his blog written by his mum Janka.

"Colby was born on a rainy Friday morning. Since his before his other ROHHAD symptoms began Colby has suffered from profound sweating, GI issues, recurrent fevers, hormonal inbalances, unexplained weight gain, snoring and choking while sleeping since he was born.

Even though Colby had difficulty eating, he would become very swollen sometimes severely and suffered from excruciating pain, and he was also very very active, it seemed almost impossible for him to just sit and be still for even a minute. Colby then kept gaining a lot of weight, which made no sense to me as he was so active and did not eat too much.

I was to learn a lot later that when Colby was about 9 months old his doctors already thought of ROHHAD SYNDROME, but it was a bit unusual to have symptomps since birth. I have also since realised that there is really Nothing USUAL about this horrible illness!

So I just tried to figure out what was making Colby sick and would ask the doctors to look at his symptoms together and him as one rather than each symptom separately. He hold see a lot of different doctors for each symptom he had. This changed when Colby was about 2.2 years old and we went to a diffrent hospital to see an Infectious Disease doctor, by that time the weight gain seemed unstoppable. Colby also suffered from inability to regulate his own body temperature, inability to feel thirst, high BP, high heart beat, high or low ability to feel pain and more, after hearing about Colby and listening to me about all of his symptoms, not only related to his speciality, he said he would do some research.

This doctor went to a conference a few years back and heard of one really rare orphan disease, he then contacted Colby's main doctor and that was the very first time they had and I had heard of ROHHAD SYNDROME.

Colby was diagnosed on April 24th 2015.

It is very hard to watch your child suffer and not been able to help and as Colby is fighting more and more to just keep walking he never gives up!

Colby loves sports, any sport really, he is a huge fan of Lionel Messi and he dreams of becoming a proffesional football player and play for FC Barcelona one day. He loves to run and giggle, but his body just does not have the strength to let Colby play for too long.

Colby receives tons of therapies to make him feel better and to keep him moving. He does Art therapy, Animal and horse therapies help with behaviour issues related to ROHHAD and anxiety - which is sadly related to being bullied and made fun of due to his weight and this is so upsetting to see him go through as the bullying has given him unnecessery stress and has even made his condition worse as his symptoms worsen when under stress, his body cannot produce the stress hormone very well.

Colby goes each year to Florida to spend a week with dolphins and get some warm fresh air that is so important for his lungs as he suffers from hypoventilation, lung disease and asthma.

Colby went to Hawaii for his Make-A-Wish trip as he wished to see the volcanoes!

We will keep fighting ROHHAD! But we need help to do so and my wish is that one day we find a cure to stop all the children with rohhad from suffering and stop anymore children from gaining their angel wings. Please help the children if you can.
Janka mum to brave rohhad warrior "
#RareReality
#GoMadForROHHAD
#ShareYourRare
#RareDiseaseDay 2019
#RohhadAwareness

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