Rare Disease Day 2021

 

Our daughter was diagnosed with a very rare disease in 2007. She was noted by John's Hopkins as the 31st case in WORLD. With such a low number of cases it was disheartening but also made it easy to find other families who had been diagnosed. 

ROHHAD SYNDROME 

After our daughter battled cancer we had to take on ROHHAD. 

What does ROHHAD mean?

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation

What is ROHHAD Syndrome?

ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a six- to 12-month period in the first 10 years of life, followed by hypothalamic dysfunction, dysregulation of the autonomic nervous system, and alveolar hypoventilation. Children with ROHHAD appear to have normal growth, development, and general health prior to onset of symptoms. The cause of ROHHAD is currently unknown.Treatment varies based on the signs and symptoms present in each person.

(Please see rare disease on the NIH website)

How the heck did we find out about ROHHAD and have our daughter Diagnosed?

After three years of misery and a hospital in CA almost killing our daughter with anesthesia that we now know should not be given to ROHHAD children we moved to Maryland to save her.

https://www.hopkinsmedicine.org/news/articles/with-complex-cases-come-synergy-and-serendipity-diagnosing-rohhad

 After months of Dr. Cooke (endocrinologist) running tests on her we found the cancer and he started working with Dr. Paz-Priel in Oncology. Without them we would have lost our daughter. 

https://www.hopkinsmedicine.org/news/articles/the-mysteries-of-rohhad-with-pediatric-endocrinologist-david-cooke

Check out the TV show Mystery Diagnosis and our fight to be diagnosed. Haven is still going strong. 

https://youtu.be/m92K8hItup4

Donating her hair!!!!  Thanks everyone for your support over the years.