Items tagged RareDiseaseDay

AaronMans Own Blog Written By Aaron Hunter for Rare Disease Day 2019 this is His Rare Reality Please Share

Meet Aaron or as many of you may know him as AaronMan 💪 he is one of our Inspiring ROHHAD warriors and he himself has written the blog below for you all to read, (well he told mum what he wanted to say and then watched carefully as she typed it for him making sure she never changed anything !!🤣🙈) this is Aarons #RareReality in his own words please #ShowYouCare by sharing his rare disease story.

"Hi my name is Aaron Hunter and I have a very rare disease called ROHHAD syndrome. I wanted to write my own blog for Rare Disease Day so you can understand a little what it is like to live with ROHHAD and I really want to raise awareness and funds to help find a cure because I don't want anymore of my friends with rohhad to die and I don't really want to die either but because I have rohhad I might not live for very long.

Sometimes my life is really hard because of rohhad and I have to go to hospital a lot and sometimes I really hate being there other times it's not too bad like when I go to clinic it can be okay just chatting to the doctors or getting some bloods or tests but other times it is so hard like when I had my surgeries, it was so painful. I have lots of doctors and some nurses and my surgeon too

Dr shaikh he is my endocrinologist
Dr Davies is my Respiratory Doctor
Dr Barclay is my gastroenterologist
Dr Noonan is my cardiologist
My eye doctor he is an Opthamology doctor
I see others doctors in London and in Glasgow for different things sometimes but I don't see them a lot. My main doctors I see a lot!

My special nurses are Heather and Jenna and Lynda they help with most of my rohhad problems and help get me things that I need and help my school know how to help me too.

My surgeon is Mr Walker he has helped do my operations.

I need to use my ventilator to breath every night because rohhad stops me breathing properly. I also use oxygen during the day but sometimes my ventilator too if I get a really sore head and i can't run anymore I miss running. I take medicines every day and one is a injection in my leg I also need my bair hugger and blankets to help keep me warm and I get checks all the time to help keep me safe like my temperature and my heart and oxygen.

Sometimes I have felt a lot of pain and sometimes I don't feel any pain but when I do it gets really hard I try to be brave and strong but it's really hard and I even thought I might just give up and go to heaven I told my mum and nurses I wanted to die but then I realise I don't really want too die because I love some things in my life and it gets better again.

Rohhad syndrome stands for rapid onset obesity hypoventilation and hypothalamic dysfunction and autonomic nervous system dysfunction. So basically that means lots of parts of my body just don't work right and my doctors don't know why yet. I feel really sad about it sometimes but most of the time I try not to think about it a lot because I don't want to be sad all the time.

If the doctors find a cure then I think when I am older I think I might like to be in the police as a job so that I can help keep people safe and fight against the criminals.
I want everyone to know that I think what matters most to my friends with rohhad is to have a good quality of life, because some of us won't live a long life until they find a cure I really think what is most important is that we get to do the things we really like to do in our lives. I hope my friends get to do good things in their lives that make them happy cause them being happy is what matters.

My big big hope and dream is for the doctors to find a cure. Please keep helping me and my friends. I really miss Luca my best friend every day he wanted to find a cure too and I really miss him he was the funniest guy I know well him and Robert and I really don't want anymore of my friends to die so please keep helping the charity so we can help the doctors find the cure for rohhad please.

Thank you so much to everybody that helps us love you all oh and I love IronMan Robert too. ps please watch The new rohhad video my friends and IronMan are in it. Thanks love Aaron xoxoxo"

#RareDiseaseDay
#ShareYourRare
#GoMadForROHHAD
#AaronsAvengers
#AaronNeedsIronMan
#RohhadAwareness
#ROHHAD

4

Meet Edwin – One of our inspiring ROHHAD Warriors this is his Rare Reality written by his mum Kim

Meet Edwin, one of our Inspiring ROHHAD Warriors, this blog was written by Kim Blyth-Polese his mum to help raise awareness for Rare Disease Day 2019 this is Edwin's #RareReality
"Having a child with a rare disease and how it affects our family :
Meet Edwin who grew up like any other child and then suddenly doubled his body weight. His team of terrific doctors made him undergo a multitude of tests until they found he had ROHHAD syndrome.
It has not been easy for him, very difficult at times however three years later we have learnt a great many things : first and foremost we try to live life to the fullest every single day, spending as much family-time as possible, living in the healthiest way possible; we have built ourselves a magnificent net of strong supportive people around us, around Edwin; we help Edwin go through scary tests by explaining everything as well as we can.
We founded as a family ROHHAD Association Belgium sister charity to ROHHAD Association and we work hard to raise awareness about ROHHAD and raising funds for research to hopefully find a cure but we cannot do it alone. So let's raise awareness : thank you for reading and please share, share, share not only our blog but all the other children's blogs and the video to help the ROHHAD children and their families. We need your help Thank you"
#RareReality
#ShareYourRare
#ShowYourRare
#RareDiseaseDay
#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

RareDiseaseDay

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