Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation is a rare disorder that affects the governance of proper breathing.
|Hyperphagia||Abnormally increased appetite for and consumption of food.|
|Diabetes Insipidus||A condition in which the kidneys are unable to conserve water.|
|Respiratory Manifestations||Respiratory Manifestations|
|Primary Alveolar Hypoventilation||A rare disorder of unknown cause in which a person does not take enough breaths per minute.|
|Cardiorespiratory Arrest||The cessation of normal circulation of the blood due to failure of the heart to contract effectively.|
|Reduced Carbon Dioxide Ventilatory Response||Reduced Carbon Dioxide Ventilatory Response|
|Obstructive Sleep Apnea||A condition in which pauses in breathing occur during sleep because the airway has become narrowed, blocked, or floppy.|
|Autonomic Dysregulation||Autonomic dysregulation involves malfunctioning of the autonomic nervous system.|
|Ophthalmologic Manifestations||Ophthalmologic Manifestations|
|Thermal Dysregulation||The body's inability to regulate its temperature|
|Gastrointestinal Dysmotility||Food does not move normally through the stomach and intestines, there often is distention of the stomach and intestines as fluid collects, and there frequently is pain.|
|Altered Perception of Pain||Inability feel pain as intensely as normally should|
|Altered Sweating||Can cause excessive sweating when in a relaxed period|
|Cold Hands and Feet||Cold Hands and Feet|
|Tumor of Neural Crest Origin||Originating in the tissues that form the sympathetic nervous system. The normal function of these nerves is to regulate the automatic and non-voluntary body functions such as heart rate, blood pressure, breathing, and digestion.|
|Hypothalamic Dysfunction||A problem with the region of the brain called the hypothalamus, which helps control the pituitary gland and regulate many body functions.|
|Failed Growth Hormone Stimulation||Failed Growth Hormone Stimulation|
|Polydipsia||A medical symptom in which the patient displays excessive thirst.|
|Hypernatremia||An electrolyte disturbance that is defined by an elevated sodium level in the blood.|
|Hyperprolactinemia||A condition of elevated serum prolactin.|
|Abnormal Brain MRI Scans||Abnormal Brain MRI Scans|
|Hypotonia||A state of low muscle tone.|
|Tips||1.) Don't let them just tell you your child is overweight - use your gut instinct 2.) Patience is needed with a ROHHAD child - as behavior can change overnight 3.) No matter what - this is not your fault - you are only trying to help your child 4.) LOW SODIUM FOOD - must have low sodium food - no prepackaged food|
JandM, JI just wanted to update you on the situation with Marky. They found a mass on his adreanal gland yesterday and have stabilized him. He is on his way to CHI to be seen by the team out there that are more versed on ROHHAD. If you or any one you know can help in the expences for Marky's trip please send them to this site. "your link text":http://www.giveforward.com/miraclesformarkymortonjr?utm_source=facebook&utm_medium=fb_wall&utm_campaign=user_vanity_page With 7 children to take care of his mom and dad need all the support they can get. Once again thank you for your help and support, I do believe that it help make a difference in his treatment. ~Brian
Thank you so very much! My nephew received a blood transfusion last night in order to help his O2 saturation improve, it is working thus far and he has stabilized. CHP Dr.'s are working very hard on a treatment plan. I will share this info with my family (his parents) and help move them towards getting the support and knowlege they need. I will be sure to contact you soon and "pick your brain" for some help. Again Thank you so much for reaching out to help! It's a scary time and it's nice to see that others care enough to help. God bless
Hi Brian, i am a mom whos daughter has ROHHAD diagnosed in jan of 2010 after yaers of fighting with NY drs, Drs in Virginia and childrens hosp phildelphia for a diagnosis. its not an easy diagnosis to come by and not an easy one to deal with. after diagnosis i found a support group on facebook- just search Rohhad and youll find it. i meet a mom when i went to chicago for studies and diagnosis in jan 2010 with my daughter. the support group is great becouse of other families with similar problems and different ways we have approached the problem. childrens hospital chicago (CAMP) Dr. weismeier is doing a clinical study which we are part of. hope this is helpfull any questions i may be able to help with im happy to. firstname.lastname@example.org send me a message and ill answer what i can or send you info on others in the same situation or my number if it will help. YOUR NOT ALONE it just seems that way becouse their are so few of us.. sorry to add you to our list but will help where i can
Hi Everyone, I just wanted to reach out to your community and say hello. My name is David Isserman and I'm one of the co-founders of RareShare. If you have any questions or comments about your community or the site, please feel free to reach out to me directly at email@example.com.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
My daughter began showing symptoms that something was wrong around age 2 and by age 4 we were given a diagnosis. I have studied this disease for the past three years and have found many families from around the globe that share her disease. I have worked with NORD and GARD to get information on their sites and ensure the Rare Disease Day has it updated and listed in their database.
My daughter was the first to undergo an experimental treatment for ROHHAD and so far has shown great signs of improvement.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.