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Addison’s Blog – Her Rare Reality Written by mum Angela for Rare Disease Awareness Day 2019

Addison before ROHHAD Above

My Miracle baby Addison was born in December of 2008. She had a rough start to life as she was a sole surviving twin at just 6-8 weeks gestation. During this time they had run all the normal tests and found that I was a high risk for having a baby with Down’s syndrome and they felt that she may in fact have it so we went through all of the normal tests and refused others as we were willing to accept Addison for who she was.

When Addison was born she was jaundiced and had to be on the billy bed for almost a week. Not only did my baby have jaundice but she had difficulty latching and suckling as well and it was even difficult with the bottle for her. Despite all that we tried she continued not to gain much weight or grow in length. Addison seen the doctors a lot of the time because she wasn’t gaining much weight and was quite sick but the doctors really had no answers. For the first 15 months of her life she had severe reflux and GI Issues. Addison was meeting milestones but they were delayed some.

At 15 months Addison was staring out the window and all of a sudden she dropped to the floor in a tonic colonic seizure. She was turning blue and it was like a minute and a half so I started freaking out. Knowing I’m not supposed to touch her (I was an LNA at Crotched Mountain Rehabilitation) I still do the mom freak out thing and pick her up and just keep saying please breathe baby breathe please.. This was all just the beginning of what was yet to come.

After that seizure we went to so many specialists. Addison had lost all speech and had difficulties running and doing all of the things that she had done prior to that day. Amazing how just a few minutes can change a whole lifetime! This started our specialist journey and there were many. We saw several neurologist and she had many EEGs and many other tests including MRI’s with results that showed abnormal white matter on her brain but with no answers as to why or what.

At this point Addison had lost all her speech except for a few words. We went from saying mum mum can we see puppies and kitties to mum mmmm. Because she was losing milestones we even brought her to developmental clinics and they were just as perplexed so they came up with global developmental delays on this list as well. One specialist actually had the audacity to tell me from one side of a window evaluating my daughter she seemed autistic but upon meeting her in person she was just a spoiled brat. Well that didn’t sit well with me.. what 15 month old would just stop talking and lose ability in things just to be a brat.

After dealing with doctors in N.H. we decided to get a second opinion at Boston Children’s Hospital. We started off having Neurologists look at her and into the seizure she had and she was still having staring spells which they have classified as a stare, absent seizure eventually. When the Neuroloenic doctor evaluated her, they thought that she had Rett Syndrome which I thought was the worst thing she could have boy was I wrong!

While seeing these doctors they had discovered that Addison did have seizures, lordosis, global developmental delays, dysphasia, asthma, low tone and a compromised immune system.
During this same time Addison was being evaluated for Autism which wouldn’t be diagnosed until she turned 5.

At about 2 ½-3 years old Addison started gaining weight and no matter what I did nutritional wise she continued to gain weight, I couldn’t make it stop. We even tried spinach meatballs and things which she won’t touch now! She would stay in the 95th -99th percentile for weight and 25th for height. No one knew why so we continued to see more specialist. We saw genetics and endocrine whom knocked out a bunch of syndromes. Gosh I remember this was the worst test after test to be told over and over no it is not that, she was tested for Cushings disease- no, Addison’s disease- no , pradar willi- no, MS (I have that so I wanted to be sure she was in the clear) the answer that came back was still no and a bunch more so many I can’t even remember truthfully. Everything that was tested for kept getting knocked out.

Finally we went to the OWL program which is Optimal weight for life at BCH.. After doing more tests and seeing how labs were the Endocrine doctor said that she believed that Addison had an atypical form of ROHHAD which I had never even heard of this syndrome (why would I when there is only 100 cases in the whole world).

The consultant told me that Addison situation was unique as she was missing any hypo -ventilation issues at this stage but fit the diagnosis other then that. At that time Addison did a sleep study and presented with tachypnea which is rapid breathing but no other issues. They ended up doing surgery to remove tonsils and adenoids which helped up until a few months ago..

Present day life for Addison includes seeing her specialist on a regular basis these days due to her weight, breathing and all other aspects of life that get affected by this. They have now found that Addison does in fact have sleep apnea which will require her possibly undergoing 2 procedures to try and correct her airway and after that she will be put on a c pap machine a form of ventilation. She will need to be ventilated for the rest of her life due to ROHHAD.

So I was told if they found this then the atypical was thrown out the window. Addison does have ROHHAD. How does this diagnosis and disease affect Addisons quality of life my answer is simple. It has changed everything for her like being able to run and play is now restricted due to how exhausted she gets, she has a light sensitivity due to abnormally large pupils, an inability to swallow liquids (they need to be thickened), her breathing which now requires a steroid inhaler (which gives her thrush every other month) during the day and at night will be a C-Pap machine to help regulate night breathing as she stops a lot.

Addison is always hot no matter what and can never cool down even in below zero she will want her window opens up to temperature instability, she is constantly thirsty which causes issues with her toileting and sodium levels, GI Motility issues, reflux, low growth hormone levels, developmental delay with regression, seizure disorder, Autism, PTSD, Seasonal Effective Disorder which impacts Addisons mood and her self confidence are effected by ROHADD.

She is more sad and introverted then she ever was and notices people looking and staring which has made her avoid piblic places as much as possible. It makes me angry and sad that people are so judgmental.

It is devastating and nothing harder to hear than your child say then “why am I so big”, “why do I look like this”, why do people stare and point at me, I wish I wasn’t alive, why can’t I just be normal (somebody tell me what is normal because I know I’m not and that is ok), and why did I have to get ROHHAD.

This Disease it also affects my families life too, it’s nothing as drastic a change as it is for Addison but it impacts us all.. Addisons immune system is always compromised and she gets frequent respiratory infections due to chocking and her immune system not being as strong. I tend to notice more things now like everyone taking pictures of fun events and all I can do is just enjoy the time we have because who knows what the future will being.

Truthfully it has become a constant thought and I’m always worried about everything that is changing and Addisons quality of life.. The worry consumes me more then I’d like it too. Not to mention all of the judgments that people pass on how you are raising you child. People telling me to change her diet and make her exercise. If only it was that simple. I would have done this years ago to save my daughter!!

We need a cure for our kids before any more children gain their angel wings! All of our ROHHAD children deserve the same quality of life as any other child. These children still have ambitions in life and need the chance to live them out. Addisons hope for the future is to be a pet owner and work with animals. She says they are the best friends you can have.

Please help Addison and her friends around the world the other ROHHAD warriors by sharing and showing support for ROHHAD.

Love Angela (Addisons mum)

#RareReality
#GoMadForROHHAD
#ROHHADAwareness
#ShareYourRare
#RareDiseaseDay2019

Banner’s Blog written by his mama for Rare Disease Awareness Day 2019 this is his Rare Reality

Meet Banner Mazza Sears, born February 7th, 2015. 38 weeks, 6 pound 14oz 19 1/12 inches. Banner was an energetic and happy baby. Although shortly before his 2nd birthday, he began to have odd bruising, excessive black eyes, and wounds that would not stop bleeding. We were admitted to Hasbro Children's and diagnosed with ITP. Banners platelet count was 15,000, when the average person, on the low side has 150,000. They believed this was brought on by an average virus. After one treatment of IVIG, and many blood tests for the next year, we were almost clear of our hospital trips.

A week before his 3rd Banner was diagnosed with influenza A. Up until this point Banner was always small for his age, at almost 3 he was still wearing 2t clothing. Due to the Flu, we pushed back his 3 year appointment 1 month. At that appointment, his paediatrician said he was 4 or 5 pounds overweight. So at that point, our family went out of our way to make sure diet and exercise were top priorities. After a few months of serious healthy eating, and nothing but continued weight gain, as of June roughly 20 lbs, (with no other symptoms easily recognized) we switched endocrinologists and saw someone at Hasbro.

After our first appointment, even though we had planned many tests to rule out any other diagnosis, our doctor mentioned in his notes to our paediatrician, this may possibly be ROHHAD. The following month brought tests for cortisol, pituitary gland, Cushings, Prader Willi and more, and ended with a scheduled MRI.

Two weeks before the schedule. MRI, I was awoken by some noises that sounded like Banner was talking in his sleep, or possibly having a bad dream. It was 5am so I almost didn’t go in, afraid he may not fall back to sleep if I did. Something told me in my gut to check on him. When i went in, Banner was in respiratory failure. We called the ambulance, they came and began CPR and immediately bagged him. He had a temp of 106. This was brought on by the common cold virus.

At this point, in Sept of 2018 we were officially diagnosed with ROHHAD. Banner had hypo-ventilated. We went home 16 days later on BiPap ventilation. In the first week of October he was admitted again with pneumonia. After that 8 day recovery, we decided to come to Boston children’s. They have 6 cases of this diagnosis that they have managed and treated, it seemed the best choice. Our initial appointments showed that with Banners case, an immune system compromise, always followed and huge show of his ROHHAD symptoms. We decided now was a good time to remove Banners tumour that was resting near his spine.

We were admitted December 4th for tumour resection and we are still here at Boston Children’s now 11 weeks later and will be for some more time to come. This is because Banners respiratory issues got so bad, and his CO2 levels were so high (140 awake, average is between 30 and high of 50) we had to go ahead with a tracheostomy. Banner has struggled with tracheitis, pneumonia and viral infections. On top of being 4 and not wanting to have tubes all over!

We are hoping to be heading home within the next couple of weeks once we can staff some home nursing hours. One of the hardest parts of this diagnosis, has been the change in his personality. Banners behaviour has become extremely aggressive at times, which can be hard to explain to friends and family, and also hard on your heart as Mama. There are times it appears you have flipped a switch, and its not my little boy I'm looking at. It's not his fault!! The part of his brain that helps with control is not functioning properly. Another cruel part of this disease and that is devastating.

Banner always manages to push through the bad times and kiss and make up. Banner is absolutely hilarious. He is such a ham, always making the staff laugh! He has an absolute fan club here in the MICU. He shouts from his room, hello! to all walking by. Invites them in to play with his guys (Marvel super hero figures) or cars, or to play Ghost busters on the tablet. Banner loves to play ball (he has a heck of an arm!) And, he also really enjoys just jumping around in his bed like a "crazy coconut"!!! There are still snuggle times and lots of hugs and 100 kisses, but Banner is easily frustrated because he is so limited. ROHHAD is a terminal diagnosis with no cure, and so far not a lot of research. None of us who are living with this daily, have any idea what to expect for our futures, or will we even have a long future.

There is no way to plan, or treat this disease. It is just management of symptoms. With only 100 cases worldwide there is no clear connection between our kids. They do not know yet if it is genetic, it would seem so unlikely to be environmental as kids from all different places all over the world have it. We need to raise awareness, and gain exposure. Our kids need us to advocate for them research into ROHHAD is urgently needed. Please help us by sharing the stories of our ROHHAD warriors. #BannerBrave #HulkSmashRohhad

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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