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. 

NORD Invites You to be a Rare Disease Day Partner

Help by signing up and encouraging others!

The National Organization for Rare Disorders (NORD) is coordinating the observance of Rare Disease Day in the United States on February 28, 2009. On that day—and in the weeks leading up to it—we will join with others around the world to conduct a variety of activities to raise awareness of rare diseases and the need for safe, effective treatments.

We invite all patient organizations, companies, medical societies, government agencies, and others with an interest in rare diseases and orphan products to join us in this global effort. You can do this by writing to rarediseaseday@rarediseases.org and signing up as a Rare Disease Day Partner.

Office of Rare Diseases
National Institutes of Health
6100 Executive Boulevard, 3B-01
Bethesda, Maryland 20892–7518
Telephone: (301) 402–4336
Fax: (301) 480–9655

ord@od.nih.gov