February 2016 - ROHHAD Association

Angel Emilee’s Story (written by her dad Charlie)

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It is time for me to talk a little more about my beautiful daughter Emilee, and what we as a family have gone through.

In my last blog I finished by sharing that Emilee had taken some tests for gifted children, I shared that she had just missed out on passing those tests fully because of her health declining and immediately after those tests Emilee was to spend more and more time in Hospital.

One of those times her temperature would not even register on a thermometer this was a huge concern for doctors and they flew her on this occasion like many others to the children’s hospital in Pittsburgh.

They still have no clue, not any idea what is going on with her but are running so many tests and investigations, test after test after test; she was spending so much time in hospital. We would get her home for 1 week or if we were lucky 1 month and then she would be back in hospital.

During all of this my Emilee was always so brave. This as you can imagine is not easy on any of us and it is really affecting my son. He and Emilee were always so close and I could tell it was so hard on him, I tried to act like it was all okay but it was so far from okay. His grades now went from the highest grades and honour roll to almost failing all his classes.

Emilee was completely out of school now she was in hospital so much and when she was home it was great to have her home but then it was also so hard knowing she was so sick and there was nothing I could do to make her better. I did my best to care for her and followed what the Doctors said to do which was check her blood sugar regularly because now she was diabetic and keep her on her diet. We stuck to her diet and the cares the Doctors advised and yet still she would keep getting sick. Further decline in her health meant she was no longer able to go to the rest-room on her own so we had to put her back in diapers. Her sodium levels would not regulate and neither would her temperature and so it continued back and forth in and out of hospital.

Emilee really struggled to stay awake and was becoming more and more lethargic, she was also becoming violent. Hallucinations set in and she said that she saw ghosts. Her hunger was unbearable at times and she would eat anything and everything including non foods, this we later found out was another problem caused by the ROHHAD Syndrome. In fact all of the symptoms she was now battling daily were all caused by ROHHAD.

Her pituitary gland was not regulating itself so she now had so many meds to take on top of her insulin and oxygen. At night she would kick me all the time when I would try to put her oxygen back after it had come off at night. She truly hated having it on and some times the kick was in very sensitive spot lol . The Drs would think she was asleep because she slept so much but she would also fake like she was asleep and got very good at it.

So they would tell me things right there in front of her thinking she was asleep and a lot of times she would hear it. The worst thing she heard when Doctors thought she was asleep they told me she was dying they did not know when or why but it was happening so much was going on and they had no way to stop any of it. When she heard that after the Doctor left the room she started screaming and crying saying she did not want to die I stood there fighting tears back and told her she was not going anywhere not for a long time.

Sorry I have to stop writing for now, I will write some more another time, take care to all of you who are reading Emilee’s story and blog, I hope this helps some of you that are dealing with this messed up serious disease, or that it helps those who want to understand more about ROHHAD, understand a little of what the families are going through, Thanks Charlie

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Excited to announce our 1st Charity Ambassador ‘Lee Samuel’

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All at the ROHHAD Association are very excited to welcome to the team; the very talented Mr Lee Samuel.

Lee is an Actor, Presenter, Drama Teacher and BIG Panto Star in Scotland, he is also a very close friend to the Hunter Family and has seen for himself the devastation that ROHHAD has caused to his ‘wee pal Aaron’ and his family.

Lee has been a huge supporter of the ROHHAD Charity since it was founded in May last year, helping out at our events and to raise awareness.  When Trustees were discussing who we could ask to be Ambassadors for the charity Lee was the first to spring to mind.  We asked him and he said YES !

We are all delighted he is part of our Team as we know he will bring so many positives to our charity.  His enthusiasm is fabulous, he is driven, hard working and compassionate all of which we welcome in our team.

Thanks Lee for all your support so far; we are looking forward to continuing our work with you in your role as Ambassador.

Lee will be presenting at the ROHHAD Masquerade Ball on Friday the 1st of April.

He recently did his #GOMADJumpForROHHAD challenge that can be seen on FB, here is a few snaps of Lee doing the challenge and of Lee with Aaron.

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Reagann’s Blog (written by her mum BJ)

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I will start my first blog off saying how heartbroken our family was to hear of the tragic loss of a young lady at the age of 22 who lost her battle with ROHHAD this week, Sarah Blake. I had never spoken to her or her family, although I wish I had. She was a member of our support group but we had never corresponded. We send our love and prayers to her family.

I’ve thought for some time what I would write about in this blog. I’m committed to helping raise awareness of ROHHAD but at the same time our family values our privacy. We don’t want this disease to define us or especially Reagann. It’s a balance that I haven’t quite figured out yet. I’ve said for some time that Reagann has ROHHAD but ROHHAD does not and will not have Reagann.

This past weekend we went to a store about 50 miles away from home. A woman who worked in the store recognized Reagann and commented that she had seen Reagann on facebook. She was very nice and heartfelt. She recognized Reagann but she wouldn’t have been able to tell us anything about ROHHAD, but most people, including close family and friends, couldn’t really tell me much about the disease if I asked. How do I change that? The disease is SO complex, it takes us parents years to try to understand it and have any sort of grasp on it. But maybe that’s not the goal. My goal has always been to find others who could have the disease. I don’t ever want anyone to go through what I went through….begging doctors all over the country to listen to me that there was something wrong with my child. And for months, years even, no one would listen. It’s still hurtful nearly five years later to think of all I went through to try to get help for my child.

The biggest question I get asked from people is “How is Reagann doing?” I never quite know how to answer this question so I usually just smile and say that she is doing great. It’s just easier to say that. If I tried to explain it all to someone who asked, it would take hours. I do not take Reagann’s health for granted, overall she is doing quite well, and I am very thankful. But every day truly is a battle. We have to watch and monitor everything Rea does. We keep spreadsheets of her daily fluid intake, oxygen levels, heart rate, etc. I keep a spreadsheet with all of these numbers on them, and track averages; so if her numbers are off trend or higher or lower than average it sticks out.

I use a lot of the skills I’ve learned at my office to track everything Reagann. It would seem to most people that it’s a ton of work and hard to do, and I don’t minimize it, it is hard but it’s worth it. I can tell you anything Reagann usually by memory. I study, analyze and memorize numbers, spreadsheets, doctor notes, clinic notes, medical records to be able to help my child. Is it overwhelming? YES! But I do feel that it’s in her best interest? Absolutely. Our doctors actually request my files periodically.

Reagann’s biggest battles these days are with her electrolytes, mainly her sodium levels. The last few months have been very hard with her sodium levels being elevated. Any sort of stress or sickness will affect her sodium levels and she shows no signs when her sodium is high or low. The only trigger is if we notice that she’s not drinking as much as normal or if we have to push her to meet her daily fluid goal. We are actually lucky in the fact that she is pretty much able to drink as much as she wants. We are not on a strict fluid regimen like some children are, Reagann has partial diabetes insipidus, which means that she has some working thirst mechanism, so basically her brain doesn’t tell her all the time to drink to keep her body hydrated, but it does tell her some of the time.

If her thirst mechanism worked fully then her brain would know when she was getting dehydrated and signal her to drink more. Her current fluid goal is 50-60 ounces daily. When her sodium is over 150 we get a fluid goal from her pediatric endocrinologist. Her fluid goal is calculated on her weight. When her sodium is over 150, our fluid goal is typically around 90 ounces a day for 2-3 days and then we will have her re-checked . We are chasing more and more high sodiums in the last few months and we are unsure what the cause is…it could be because she’s gained a little weight; disease progression or a number of other things. I refuse to say it is disease progression.

Reagann normally gets her sodium checked every two weeks. If she’s in the normal range (135-145) then we get a two week pass before re-checking, if she’s high, then we have fluid goals, and recheck every two days or so until she’s back in normal range.

Some days are harder than other days. This life is a very complicated, often lonely, mis-understood life. When you have a child with a chronic health illness (you will NEVER hear me say terminal because I don’t and won’t believe or accept that) it seems that you will always be accused of trying to get attention. I wish people understood that most of us would give anything for our children to have normal lives….for us as parents to have normal lives. But until you live this life daily, you will never understand. You are on constant high alert, and live every day, every hour of your life trying to give your child as normal a life as possible.

I’ll never stop fighting for and believing in Reagann. I’ll never give up. Reagann is a miracle and I praise God every day for what He has done in her life and in our lives.

ROHHAD will truly not ever win with our family.

Please continue to help all of the families that fight ROHHAD back, raise awareness of ROHHAD, and keep all the families and children in your thoughts and prayers. These truly are the most special people in the world. There’s a reason why our kids are 1 in 70 million.

God Bless,

BJ Duenne

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