ROHHAD News Archives - Page 4 of 11 - ROHHAD Association

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Seohyun Blog Written for Rare Disease Awareness Day 2019 Rare Reality

Seohyun above before ROHHAD Syndrome

Let me introduce my beloved daughter, Seohyun.
Born lovely and beloved of the whole village.
She was a little girl who was healthy and energetic.

Before Seohyun reached the age of two years old
She began to struggle with her breathing and suddenly she always seemed to be sick and feeling sick. I took my beautiful daughter to many of our big hospitals, but nobody could understand what was wrong with her, they didn’t know the cause.

Nine more months later we slowly began to get answers through extensive tests they discovered my daughter had a tumour on her kidney and a spinal cord.
We found out that it was a cancer called neuro endocrine tumour.

They had to Leave the cancer on her spine after the tumor resection as it was too risky to remove it all. Seohyun has had to have auto-controlled cell transplantation eight times, as well as chemotherapy, She also needed 12 doses of radiation and more medication.

For over a year, she has been holding up and seems to have developed the power to fight her diagnosis and her cancer.
But in the midst of such a hard struggle, our daughter continued to decline and have difficulty breathing and gaining weight that was causing serious problems within her body.

She suffers from neuromuscular degeneration and has severe difficulty adjusting her body temperature. I’ve watched ROHHAD syndrome almost destroy my child, her quality of life is severely affected.

The ROHHAD syndrome is something we have had to try and get used to as a family but it seriously effects us all. We see it as a very bad disease that’s kept our daughter in hospital a lot and indoors.

She struggles so much going out she is so weak and has little muscle control, so she can’t go out without a breathing tube, the rapid onset obesity does not help and she feels a lot of leg pain. It’s so difficult to move without a wheelchair. Our daughter can no longer go to school and it has really hindered her social life. Like other children, who can run around with your friends, my daughter cant do that anymore.

My lifelong wish is to Find A Cure, I do not want to see my daughter suffer like this, but this is her life until better treatments and a cure are found. Research is Vital and so important. Please help us find a cure and until then my daughter will continue to suffer for the rest of her life and have to stay home.

I pray we find a cure.

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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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Blog by Chasity Jacobs ROHHAD Awareness 2019

Alayna Leigh Jacobs (Lani, 6) of Ripley (above before ROHHAD), Tennessee, bacame sick a month before her 3rd birthday. Prior to this, she was a happy, healthy, “normal” kid. The day she became sick, we thought she was having an asthma attack. We took her to a local hospital, where we were told it was probably an asthma attack plus maybe something viral. They told us to follow up with her primary care.

The next day we took her in to discover her temperature was around 87 degrees. They sent her to the local hospital to be flown out to Le Bonheur Children’s Hospital in Memphis, TN, almost 2 hours away. When we finally got there we were met by 2 chaplains who took us to the trauma unit. They had to intubate her. They had no idea what was wrong. They told us to call in our family, and that she probably wouldn’t make it through the night. She shocked everyone and came off the vent. However, every time she would fall asleep she would stop breathing. They intubated her again, and did some research.

They came back in her ICU room with something printed from the internet and told us that she had all of the symptoms of ROHHAD. They had never seen it before. Neither had St. Jude Children’s hospital. After finding this out, they continued running tests on her to discover that she had cancerous tumors. We were sent over to St. Jude to have her cancer removed. After around 3 months, we came home. Since then, she has slowly gotten worse. She had a pacemaker put in to keep her heart from stopping, a gtube to feed her, and a trach and full time ventilator to make her breath. She has seizures, can no longer walk or eat, swelling in her brain, and several other issues.

She was placed on hospice and given 6 months to live. That has been over a year ago. She is now getting IVIG infusions every month to try and help her autonomic issues.

Lani knows she is different. She wants to go to school so bad but she just cannot. Her immune system is so weak. She occasionally gets to go to our church, First Apostolic, in our hometown but other than that she only goes to her specialists.

Even after all Lani has been through, she still puts on a smile that can make anyone’s day brighter. She loves with her whole heart. She enjoys coloring, playing with blocks and stickers, and watching movies on her iPad. She loves all things disney, and really enjoyed her make a wish trip to Disney World.

ROHHAD has affected every aspect of our lives. Lani has 24 hour nursing in our home. She has a doctor appointment almost every week with one of her specialists. This is her life. This is what she has dealt with for almost 4 years now. There have been so many hospital stays and time away from our home. She endures so much, more than most people could ever imagine. This is why research for ROHHAD is so important. We must find a cure. Too many precious children have died from this. And every day that passes, I thank God for another day with Lani. But that fear lingers. Every smile I see from her, I wonder if it will be the last. Every time she gets sick, I fear she won’t make it through. This fear is real for lots of parents who see their child suffer from ROHHAD. we MUST find a cure.

Alayna after ROHHAD

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