Raising Awareness

1

Meet Harper, One of Our Inspiring ROHHAD Warriors, This is her Rare Reality Blog written by Mum Chelsey

Meet Harper one of our Inspiring ROHHAD Warriors, this blog was written by her mum Chelsey to help raise awareness for Rare Disease Day 2019 this is Harpers #RareReality

"Harper Pursley is 6 years old and lives in Rathdrum, Idaho. Shortly after her 4th birthday we started noticing changes in her. She gained about 25 pounds in 4 months, she was exhausted all the time, and she presented with severe social anxiety. We contacted her primary care provider, and unlike most of our other ROHHAD kids, he listened to me and didn't play off her symptoms as a "growth spurt" or us over feeding her.

We started testing for everything our doctor could think of...blood draws, MRIs, echocardiogram, ultrasound, xrays, and what finally gave us our first real glimpse at our diagnosis was a sleep study. Her study showed Harper's O2 levels dropping into the 50s. That's when Harper's doctor first told us he thought it may be ROHHAD.

The next day we were sent home with an oxygen concentrator and instructed to use it whenever Harper slept. Two days after that, I walked in her room to Harper making almost a choking noise. She was unresponsive and it took us 15 minutes to get her to open her eyes. We were then transported to our local ER where the pediatric specialist on call made the decision to life flight Harper to Seattle Children's hospital to get our formal diagnosis and initiate her Bipap.

As crazy as those next days were, there wasn't a better place for us to be. We were set up with a pulmonologist and an endocrinologist who we absolutely love. Harper was initiated on bipap without issue, though her settings are quite high. Our plan was travel to Seattle everything 3 months for sleep study appointments with our specialists, and multiple tests to check for any abnormalities.

Everything was going somewhat smoothly, only small hiccups here and there, but her sodium was always an issues. In May of 2018 Harper became lethargic at daycare and could not walk properly. I immediately took her to our local ER where we found she had a massive drop in sodium. From there we transported to the local children's hospital where she had multiple grand mal seizures before she was sedated then intubated. After this stay, thankfully we have not had a drop again...but unfortunately with ROHHAD it is only a matter of time.

Our struggle is not just when we have big issues that cause hospital stays. Our struggle is EVERY DAY. Every day I wonder if this is it. Because honestly it could be. Our kids lives are cut short with no prior warning. If we hadn't been at a hospital when Harper started seizing she could be gone right now. My daughter was only saved because we were at the right place at the right time. Next time I may not be so lucky.

Our kids do not deserve this. These parents hurt. We hide and silently cry so our kids don't have to see us. We are strong so our kids believe in themselves, so they can be strong. Our children need help. These families need help and support. We need a cure for this terrible disease. Please help us Find A Cure."

#HopeForHarper #FightWithHarper
#RareReality
#GoMadForROHHAD
#RareDiseaseDay 2019
#FindACure
#RohhadAwareness
#ShareYourRare

1

Meet Colby One of our Inspiring ROHHAD Warriors, this is his Rare Reality Written by his mum Janka

Meet Colby Luis Palomeque Marica 8 years old from Pennsylvania USA, one of our Inspiring ROHHAD Warriors. This is his blog written by his mum Janka.

"Colby was born on a rainy Friday morning. Since his before his other ROHHAD symptoms began Colby has suffered from profound sweating, GI issues, recurrent fevers, hormonal inbalances, unexplained weight gain, snoring and choking while sleeping since he was born.

Even though Colby had difficulty eating, he would become very swollen sometimes severely and suffered from excruciating pain, and he was also very very active, it seemed almost impossible for him to just sit and be still for even a minute. Colby then kept gaining a lot of weight, which made no sense to me as he was so active and did not eat too much.

I was to learn a lot later that when Colby was about 9 months old his doctors already thought of ROHHAD SYNDROME, but it was a bit unusual to have symptomps since birth. I have also since realised that there is really Nothing USUAL about this horrible illness!

So I just tried to figure out what was making Colby sick and would ask the doctors to look at his symptoms together and him as one rather than each symptom separately. He hold see a lot of different doctors for each symptom he had. This changed when Colby was about 2.2 years old and we went to a diffrent hospital to see an Infectious Disease doctor, by that time the weight gain seemed unstoppable. Colby also suffered from inability to regulate his own body temperature, inability to feel thirst, high BP, high heart beat, high or low ability to feel pain and more, after hearing about Colby and listening to me about all of his symptoms, not only related to his speciality, he said he would do some research.

This doctor went to a conference a few years back and heard of one really rare orphan disease, he then contacted Colby's main doctor and that was the very first time they had and I had heard of ROHHAD SYNDROME.

Colby was diagnosed on April 24th 2015.

It is very hard to watch your child suffer and not been able to help and as Colby is fighting more and more to just keep walking he never gives up!

Colby loves sports, any sport really, he is a huge fan of Lionel Messi and he dreams of becoming a proffesional football player and play for FC Barcelona one day. He loves to run and giggle, but his body just does not have the strength to let Colby play for too long.

Colby receives tons of therapies to make him feel better and to keep him moving. He does Art therapy, Animal and horse therapies help with behaviour issues related to ROHHAD and anxiety - which is sadly related to being bullied and made fun of due to his weight and this is so upsetting to see him go through as the bullying has given him unnecessery stress and has even made his condition worse as his symptoms worsen when under stress, his body cannot produce the stress hormone very well.

Colby goes each year to Florida to spend a week with dolphins and get some warm fresh air that is so important for his lungs as he suffers from hypoventilation, lung disease and asthma.

Colby went to Hawaii for his Make-A-Wish trip as he wished to see the volcanoes!

We will keep fighting ROHHAD! But we need help to do so and my wish is that one day we find a cure to stop all the children with rohhad from suffering and stop anymore children from gaining their angel wings. Please help the children if you can.
Janka mum to brave rohhad warrior "
#RareReality
#GoMadForROHHAD
#ShareYourRare
#RareDiseaseDay 2019
#RohhadAwareness

0

Savannah’s Blog – Her Rare Reality Written by mum Sabrina for Rare Disease Awareness Day 2019

Meet Savannah one of our Inspiring ROHHAD Warriors; this blog was written Bg Savannah's mum Sabrina for Rare Disease Day 2019 - This is her #RareReality

"Savannah was born on March 27, 2007 at 7 lbs 11oz. She was a happy and healthy baby and we were absolutely loving life. Savannah was our third child so we thought we were prepared this time around. Boy were we wrong. Savannah started turning blue around 4 months old and was then diagnosed with having ASD. Although it wasn't the best news to hear it wasn't the worst either. So we continued on living life and made the best of it.

Savannah has always been full of personality and would always make you smile without even saying a word. She loved to spin. She could literally spin for hours. We became alarmed when Savannah didn't start talking by the time most kids did. In fact she didn't say a word till she was 3. She also never felt pain which was the scariest thing I could think of at the time. We had to keep an eye on her at all times in fear that she would seriously injure herself and wouldn't know.

She started gaining weight when she was 3 years old. I took her in to her pediatrician where they told us she was autistic and that we were overfeeding her. Overfeeding her? Really? She ate less than any of our other kids and was way more active but yet somehow it was our fault!?

On her first day of kindergarten Savannah was was much bigger than most kids in her class and she was bullied badly right from the start.

She started turning blue again while in gym class so we took her back in to her cardiologist. After several tests we found out she had dysautonomia and pots syndrome. She has no control over important things such as blood pressure, body temperature, heart rate etc.. and her salt balance became an issue as well.

As time went on and Savannah got older she was still gaining weight pretty quickly and according to the doctors it was still our fault no matter what we told them they just wouldn't listen. In the summer of 2017 she was 10 years old and by this time she was starting to have a lot of trouble breathing and getting out of breath real easy but we thought it was because of the heat and the fact that she was overweight. In the fall of 2017 it hadn't gotten any better and she would also stop breathing at night when she was sleeping so we scheduled her an appointment with her doctor. She referred us over to a respiratory doctor in December of 2017 and Savannah had a sleep study done.

At her follow up the doctor informed us that she had severe Obstructive Sleep Apnea. He said the first two minutes after she fell asleep, she stopped breathing 23 times, and when she went into REM sleep she stopped breathing over 100 times the first hour and that her carbon dioxide level was high. He told us that based on her medical history over the years, and from what he was seeing now, she may have ROHHAD syndrome. So our journey began. They ran every test they possibly could during that time. We found out that Savannah has Hypothyroidism, Adrenal Insufficiency (Cortisol Deficiency), Exercise induced SOB, Paroxysmal Vertigo, Vocal chord dysfunction, and physical deconditioning. The Neurologist also foud a cyst on her pituitary gland. She also has ADHD, ODD (oppositional defiance disorder), Anxiety, Dysautonomia, POTS (Postural Orthostatic Tachycardia Syndrome), Asthma, Delay in Development, Learning Disability, Dizziness, Headaches, Obesity, and Developmental Expressive Language Disorder. Savannah also has decreased pain perception and a few other minor issues. Savannah has also had a breathing/stress test done.

The doctor said she did not do good at all. When her heart rate goes over 140 bpm her oxygen levels drop down into the low 80's, then she cant breath and she begins to hypoventilate. After all the testing the doctors had done that came to two possible diagnoses. ROHHAD syndrome or Congenital Central Hypoventilation Syndrome. In May 2018 we had an appointment with the genetics department they told us that they needed to do a PHOX2b test to check for CCHS, but our insurance wouldn't pay for it. After some runaround we were finally able to get the test done. In July of 2018 (Savannah was 11 years old at this point)we were told that the test came back negative for CCHS and that as a result she definitely has ROHHAD syndrome.

I thought our world had ended with the news we had gotten from the doctor but Savannah is a fighter and we are even stronger now than we were before because of Savannah. Savannah has been getting worse these past few months with her breathing, and the medication that she's on for her thyroid, cortisol, dizziness , etc. are not working that well. The doctors don't know what to do anymore.

Savannah was diagnosed quite late on with ROHHAD and it is proving difficult to treat her symptoms because they are not in the early stages any longer. Savannah is on a waiting list to see a specialist who has seen kids with ROHHAD syndrome but we are 8 months out on the waiting list and we are slowly watching Savannah get worse. She is up to 250 pounds now and at the point now where she is having so much difficulty doing simple tasks anymore because of her ROHHAD and other medical issues.

This is a horrible disease that robs kids of their entire childhood. Prior to the ROHHAD diagnoses we had dreams, hopes, and ambition for her future. Prior to ROHHAD we saw a child who was able to be a child. Now it's appointment after appointment, pills,pills, and more pills and a child who often gets left behind by her peers because she can no longer do the things they are doing, things she used to enjoy.

It is so hard having to watch your child go through this but if her journey has taught me anything it's to always take one day at a time and never ever take for granted the small things because even though the small things don't seem as important to you sometimes that little rock they just gave you from the ground or that picture they spent so much time coloring means the world to them, and when the sun rises again it may be the last thing your precious angel could ever give you.

#ROHHADSYNDROMEAWARENESS
#ShareYourRare
#SavannahStrong

This Campaign has ended. No more pledges can be made.