ROHHAD Archives - Page 4 of 16 - ROHHAD Association

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Leah Baldock ROHHAD Blog written for Rare Disease Day 2019

Leah Baldock pictured above before ROHHAD

Leah was born in June 2009 and was a completely healthy child with no health problems whatsoever. She was a very happy, confident child with bundles of energy.

At around the age of 3 she started gaining weight very quickly, and she was always so very tired. She would literally sleep from the moment I collected her from nursery at midday, through to dinner time, and still slept right through in the evening. Her personality completed changed and we just knew something was wrong.

We repeatedly took her to our GP, who just kept telling us she just needed to have a “growth spurt” but after us pushing and pushing he finally agreed to refer her to a paediatrician. To cut a long story short the paediatrician had no idea what was wrong but in our eyes was not doing enough to find out what the problem was. It was so very frustrating.

It was time for us to take matters into our own hands, so I decided to email top Endocrinologists in London explaining our situation and included pictures of Leah before and after. Within 5 minutes I received a reply asking how I would feel if Leah was admitted to the Evelina hospital for a couple of weeks of extensive tests. This is where our journey began.

The Evelina hospital at first suspected Cushing’s syndrome, and after an MRI test discovered Leah had a neuroendocrine tumour. We were then referred over to the Royal Marsden who carried out more tests, from there we were referred to the Royal London hospital for further hospital stays and tests, and eventually we ended up at Great Ormond Street hospital. We actually had to wait 5 months not knowing if the tumour was cancerous or not, which was the hardest 5 months of our life. Because of the location of the tumour it was impossible to take a biopsy so we just had to wait for an operation to try and remove it instead.

After an 8 ½ hour wait Leah’s tumour was mostly removed successfully. She has a little piece that still remains but it is too close to her spinal cord so for now it is just closely monitored. Thankfully it was not cancerous.

ROHHAD Syndrome was a name that was always thrown around by our specialists but we always hung on to the hope it was Cushing’s as that would have been much easier to treat. We were finally diagnosed with ROHHAD in 2017. Its horrendous when any child gets a serious illness but imagine finding out that less than 100 children worldwide have what your child has, and realising the professionals have absolutely no idea what causes it, let alone how to treat it. Then you discover there is absolutely no government funding. You feel so scared and alone!

So how does ROHHAD affect Leah on a daily basis. She injects daily with growth hormone, and self-medicates with various medicines to try and prevent diabetes. She is on an oxygen machine at night for sleep apnoea. She regularly sees the endocrine team at Great Ormond Street. As well as sleep studies to make sure her breathing has not deteriorated. She has regular hospital stays to monitor her hormones via 24 hour blood tests, where they take blood hourly. She also sees the cardiology team to check her heart as obviously the extra weight she carries can cause problems. Leah’s tiredness affects her the most on a day to day basis. She struggles to get through a day at school because of her extreme fatigue.

She misses out on lots that she should be doing as a 9 year old. She struggles to run around the playground with her friends. Her weight affects her confidence greatly. People do stare or make comments and as Leah is getting older she is much more aware of this.

Leah’s condition has had a massive impact on our whole family. Leah and I have spent many weeks in hospital which was very hard on our son. Regarding education Leah is where she should be academically which is amazing considering she missed a year and half of school! She loves school and has the most amazing friends who helped her transition back into school life. Leah horse rides on a Saturday which she loves. Everything Leah does in life she does with the biggest smile on her face and she never fails to make us laugh.

We really need to find a cure for ROHHAD so other children don’t have to go through all these months or years of invasive tests and investigations. We need to know more about ROHHAD now before any more children gain their angel wings. We don’t know what the future holds for Leah, we just try and take each day as it comes. Every test or hospital visit we just pray that her symptoms haven’t worsened.

Please help us find a cure!

Leah after her ROHHAD Syndrome began to affect her body

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ROHHAD Association Research Grants 2019 to 2020



We are delighted to officially announce that the ROHHAD Association is now OPEN to proposals for funding for Medical Research into ROHHAD Syndrome.

The available funding for 2019/2020 research grants is a staggering £275,000.00 which would not have been possible without the help of all of our incredible supporters, our inspiring children their families and their friends. Each and everyone of you have contributed and we couldn’t have done it without you.

We want to say a MASSIVE THANK YOU to you all and also to our charities special friend Robert Downey Jr and all of his amazing fans the ducklings whom helped us immensely with raising awareness, funds and the #GoMadForROHHAD campaign. Fulfilling Aaron Hunters Wish to help raise awareness and funds to #FindACure for his friends all around the world battling the Evil ROHHAD

Applications for funding closes on the 1st of February 2019 and we hope to be supporting ROHHAD Research Financially by April 2019. We will keep you all updated on the progress of ROHHAD Research as this moves forward.

Please click the link to view our charities Research Strategy and also the criteria for this coming years funding proposals. The Strategy and ROHHAD Research Priorities were created in consultation with the families affected by ROHHAD Syndrome.

ROHHAD Association Research Strategy

We hope that we can rely on your support now and in the future to ensure that one day we do indeed Find A Cure!

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Robert Downey Jr has Gone Mad For ROHHAD !! Aarons Wish is unfolding !

https://www.facebook.com/robertdowneyjr/videos/858723674296099/?t=10

Wooohoo  the real IronMan has done Aaron’s Challenge and he is calling on all Marvel FANS, the Avengers and fellow Marvel Universe Heroes to do the muddy puddle challenge too 

Aaron would like to say –

“This has been the best time of my whole life ever and I am so excited to see everyone having fun and helping my special friends by doing my muddy puddle #GOMADJUMPFORROHHAD challenge. THANK YOU everyone who helps us. I love you so so much IronMan, your my best friend and I always knew you would want to help us love Aaron”

This was by far the most magical moment of Aarons Life ! and his thoughts on the challenge “It was Awesome!” Aarons weekend with his Favourite Hero finished in style with his wish being fulfilled as he watched Robert get wet and muddy to help all of the ROHHAD children ! Aarons Heart is so full of HOPE right now for all of his special friends ! The Mission is to defeat the Evil ROHHAD and He cannot wait to see you all Go Mad and Jump For ROHHAD

To all who HELP by donating & taking part in the challenge we say a MASSIVE THANK YOU it is with your help we’re gonna find a cure !

Robert and Susan Downey Random Act Funding charity are this year supporting the ROHHAD Association charity. They are running an incredible competition and you can get involved, donate and enter via www.crowdrise.com/RDJ .  If you donate $10 you will be entered into the prize draw to win 2 VIP Tickets to the premiere of   #InfinityWar and hang out at the after party !!

Special Thanks to Robert Downey Jr, Susan Downey and #TeamDowneyfor their Incredible support. The HOPE that all of the families affected by ROHHAD now have would not be happening without YOU!

To everyone who helped Aaron reach his beloved,  IronMan! from the ducklings to family friends and when you wish upon a star (who grant terminal wishes) We thank you so Much ! (you all know who you are)

 

Hello all, with our selfie game on point, Aaron and I are devising ways we can #gomadforrohhad…Donate just $10 bux…

Posted by Robert Downey Jr on Saturday, 24 March 2018

 

https://www.facebook.com/robertdowneyjr/videos/854392214729245/

 

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