Living with ROHHAD Syndrome

The story of BJ Duenne

Today is #RareDiseaseDay – A rare disease, also referred to as an orphan disease, is any disorder that affects a small percentage of the population. Although the disease may be rare, patients and families share a common struggle.
In 2018 the theme is #Research. Research is key. It brings hope to the millions of people living with a rare disease across the world and their families.
Reagann has been diagnosed with #ROHHADSyndrome – ROHHAD is an acronym for multiple symptoms – 
RO – Rapid Onset Obesity 
H – Hypothalamac Dysfunction 
H – Hypoventilation 
AD – Autonomic Dysregulation 
Most people don’t know what any of that means, it’s quite hard to understand. I’ve done nothing but study ROHHAD, the symptoms, the families, the children, the treatments, etc. for 5 years now. Reagann was officially diagnosed with ROHHAD in January of 2013 at the Johns Hopkins Hospital in Baltimore, MD, after we traveled across the country looking for a diagnosis and looking for help for what was happening to our child. No one could help us. 
Because of the rarity of ROHHAD probably 95% of doctors and health care providers will never hear about ROHHAD. Very scary when this is a war your child’s body fights EVERY SINGLE DAY OF THEIR LIFE. 
The best way to describe ROHHAD is that it is a rare disorder of breathing, autonomic nervous system (ANS) and hormone (Endocrine) abnormalities. Patients with ROHHAD lose the normal automatic control of breathing in response to activities of daily living (ex. exercise, sleep, eating). The autonomic nervous system is the part of the nervous system that controls many involuntary body functions like heart rate, blood pressure, temperature, bowel and bladder control, breathing and more. Many hormones are regulated by the hypothalamus and pituitary in the brain. These hormones control growth, energy and water balance, puberty, fertility and response to stress. 
There are fewer than 100 confirmed cases of ROHHAD in the world. There is no official treatment or cure for ROHHAD Syndrome. Reagann was treated with experimental high dose chemotherapy (Cyclophamide, also known as Cytoxin or Hi-Ci) in June of 2013 to “reboot her immune system”. She is now nearly 5 years post chemotherapy with no disease progression, but the symptoms she had prior to chemotherapy are still there. 
Reagann was a healthy, happy two year old little girl when she began to gain unexplainible weight. We were desperate for answers and took her to multiple hospitals across the country. After more than 2 years of searching for answers a golf ball size tumor was found in the back of her chest near her spine. It was classified as a Stage 2 Ganglioneuroblastoma tumor. Reagann had surgery to remove the tumor on May 7, 2012. In January of 2013 she was diagnosed with ROHHAD Syndrome at the Johns Hopkins Hospital in Baltimore, MD. Reagann’s other symptoms include: Hypernatremia and Hyponatremia (high & low sodium levels in the blood), Hyperphagia (excessive hunger), Diabetes Insipidus (excessive urination and dilute urine), Obstructive Sleep Apnea, Strabismus (eye abnormalities), Flat affect personality disorder, and selective mutism. She also suffers from growth issues and her final height is expected to be under 5′. Reagann is followed by Endocrinology, Pulmonology, Opthamology, and Oncology at St. Louis Children’s Hospital & the Johns Hopkins Hospital as well as the Kennedy Krieger Institute with Neuropsychology, both in Baltimore, MD. 
We have a lot of doctors, but we her caregivers are her main doctors, to be honest. I keep charts of everything – height & weight, lab results, oxygen levels, clnical notes, you name it and I more than likely have a spreadsheet for it. The pressure on us as parents is enormous. Because there is no treatment or cure for ROHHAD and every child presents differently, it is up to us as parents to make decisions as far as medical care & intervention for our child. I am terrified to make a wrong decision. I rely heavily on my Faith in making decisions and caring for Reagann every day. We live on high alert EVERY SINGLE DAY OF OUR LIVES. Every night when Reagann goes to sleep and she is hooked up to her machine, to make sure her breathing and heart rate are normal, you take a little pause until you see that the number is good and can take a breath and know that as of this moment, everything is ok. 
Every day seems to be a battle and a fight to get Reagann what she needs. I stay in close contact with two sets of doctors that are a thousand miles apart, as well as her pediatrician and psychologists. 
What many people don’t know or understand is that the behavior and social part of this disease, for us anyway, is just as devastating as the medical. Sometimes, you just want to feel like someone understands you, but most of the time you feel totally alone. 
That is just part of the disease. I have had many people tell me, why don’t I just try to live normal? And not let this disease overtake our lives? I don’t exactly know how to respond to that, because we work hard to live as normal of a life as we can, but sometimes that’s hard to do, this is the hand we were dealt….my kids are my whole life, so something that effects my child, WILL be my life. 
The odds of being diagnosed with ROHHAD are 1 in 73 MILLION. 
#ROHHADSyndromeAwareness #OurLife #Awareness#UnderstandingandCompassion #RareDiseaseDay2018#GoMadForROHHAD #WildAboutReagann #Faith #Hope#HopeAnchorsTheSoul #Hebrews6:19