ROHHAD

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ROHHAD Research, child and family participants required urgently

Good evening everyone, we will over the next few days be emailing the families who have agreed for us to contact them regarding medical research however time is vital for this particular research project as the time line has been altered by those funding the exome sequencing and samples are now required sooner.

Therefore we are sharing this on all ROHHAD pages including the charity public pages and websites. Please consider signing up for this and participating this is the project I have previously informed you all about and they require your child as well as parents (were possible) and siblings were possible.

A few things to note the timeline has been changed you will need to participate sooner than first expected and before the end of August so time is against us therefore if you want to participate please contact Dr Thaker Team ASAP.

You NEED to contact Dr Thaker she cannot contact you and we cannot pass your details on see the photo below for her contact details.

You will need to sign consent possibly more than once due to some potential changes.

You will if you agree to do it be sent blood sample bottles and you will need to make apt with your physician/ GP to have the blood drawn... the charity is willing to cover return postage costs and help organise the same day parcels collection with you.

Just let us know when you have the bottles / consent and questionnaire forms/ when your samples are booked to be taken and we can help you with the rest. For that you need to email us at [email protected]

We will be speaking to our friends at RA Belgium to see if we can have the forms translated into different languages were required we currently have English and Spanish.

If you have any questions pop them down below in comments or email me ! I’ll try my best to answer.

Finally we can have up to 75 families participate in this if you have had your exome done before you can have it done again. If you have worked with other research teams previously please consider helping this team too we are all in it together and the only way to understand this disease better, improve treatments and find a cure is to participate when we can in the research. So please contact Dr Thaker and us too if you have any questions or require help shipping back your samples!

There will be more research posts from us as we move forward with releasing the £275K we have raised for research.

Thanks in advance to all who participate
#GoMadForROHHAD #MissionFindACure

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Open Letter from our CEO Elisabeth with an important Research Update

An Open Letter from our CEO and Co-Founder with an Update on ROHHAD Research

Good Evening ROHHAD Avengers!

We are excited to announce that the process of awarding funding for ROHHAD research in 2019/2020 is almost complete.

The charity received four proposals in total from four different teams of researchers across the globe and all of them met our funding criteria. Each proposal for funding is incredibly exciting and offers enormous potential to help the medical industry unlock some of the mysteries around ROHHAD Syndrome.

Idealistically the charity would fully fund all of the proposed research projects but regret that we are unable to fund all of the proposals at this point in time due to financial constraints The charity are fully committed to raising the funds necessary to enable further research in the future.

At this stage, we have £275,000.00 that we are ready to allocate. Consultation was carried out with the families affected by ROHHAD Syndrome in the early stages of our work to determine the research criteria. Our team of peers reviewers have now analysed the applications that were received and made recommendations to our Board. Over the last few months, the Board have been deliberating over each of the applications. We have now reached a final decision, which was based on the best fit for our research criteria.

We will be making a public announcement in the next couple of weeks once all contracts are signed and we are in a position to tell all of our supporters who we will be working with over the next two years.

As always our mission remains steadfast to find a cure and we believe that the project(s) we will be funding and the team(s) we will be working with will help us achieve our mission in time.

Thank you to everyone who has supported our charity and donated funds to allow us to release such a substantial grant. We have so much more to do and our hard work is only just beginning, we hope we can continue to rely on your support as we cannot do it without YOU! Together we will make a difference and find a cure.

Yours Truly

Elisabeth and all at Team ROHHAD Association

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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

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