The letter “RO” in ROHHAD stands for Rapid Onset Obesity. Marisa was below the weight for her age at 4 years old and in less than a year became “obese”. ROHHAD has affected Marisa’s metabolism so she cannot lose weight and has to watch everything she eats and exercise only to stay overweight.

The letter A and D in ROHHAD stands for Autonomic dysregulation. Autonomic dysregulation involves malfunctioning of the autonomic nervous system, the portion of the nervous system that conveys impulses between the blood vessels, heart, and all the organs in the chest, abdomen, and pelvis, and the brain (mainly the medulla, pons, and hypothalamus).

No privacy. Marisa always has to have her parents or a nurse near her at all times. She has to have one of us close in case she gets a plug-in her trach, or a problem with the vent, or if she needs someone to suction her, or to give her medication which she needs 3x a day. Most importantly, she cannot sleep without being monitored. She is not able to go to school or do any activity (chorus, acting, movie night) by herself.

Sickness/Injury is something we dread. When Marisa gets sick we are on high alert. During those nights she needs O2 to be added to the ventilator and much more suctioning. We have to be afraid of pneumonia. One of our worst fears is a stomach virus because of her trach. If she vomits it could go directly into her lungs. The consequences of pulmonary aspiration range from no injury at all, to chemical pneumonitis or pneumonia to death within minutes from asphyxiation. Surgery is terrifying because if the anesthesia is too strong a dose she may never wake up. Sodium is abnormal for most children but for ROHHAD it is normal so if a doctor tried to "fix" her sodium with saline it could cause a seizure.

The letter “H" in ROHHAD stands for hypothalamic dysfunction. This is a problem with part of the brain called the hypothalamus. The hypothalamus helps control the pituitary gland and regulates many body functions such as appetite; weight; body temperature; growth; salt and water balance; sleep-wake cycle and the body clock.

Ganglioneuroblastoma! A Neural crest tumors that are rare and benign and found in children with ROHHAD. These neural crest tumors are found in the chest or abdomen, or anywhere along the sympathetic nervous system chain, and can develop at any age. Marisa had a tumor removed along with her adrenal gland when she was 4 years old. She is tested annually for tumors.

Suctioning is a daily activity for Marisa. Marisa has a trach that needs to be cleaned every day at least 3x a day. Suctioning means you have a small tube attached to a machine inserted down the hole in her throat to pull out any mucus. This also includes squirting sterile water down this tube to clean off anything that has dried on the side of the tube so it does not build up and block her airway. Not a fun time.

CAMP. Sounds like fun but C.A.M.P stands for Center for Autonomic Medicine in Pediatrics. CAMP is located in a Chicago hospital and lasts for 5 days. Marisa began CAMP when at 4. There are countless tests which include being hooked up to monitors; blood tests; EKGs, ECHOs, and halter monitors. At age 11, she now only goes once a year to make sure nothing has changed and to provide the proper vent settings. This still is one of the most stressful experiences for Marisa. One of the worst tests she endures is the depletion of her O2 to see her reaction. Image someone suffocating you to see if you react. This is important to see the progress of her brain reaction since ROHHAD shuts off the brain's breathing function.

The second H in ROHHAD stands for Hypoventilation-The state in which a reduced amount of air enters the alveoli in the lungs, resulting in decreased levels of oxygen and increased levels of carbon dioxide in the blood. ROHHAD shuts off the part of the brain that controls Marisa’s breathing.

Because Marisa has a tracheotomy (trach) and the ventilator she has limited physical activity. You can only pull a ventilator in a bag for so long without getting tired plus we have to watch her heart rate & temperature. Possible high CO2 limits the length of time she can be active off the ventilator. If the CO2 gets too high she could have a seizure and lose O2 to her brain.

When you have a child with ROHHAD you are dependent on "electricity". All of the life-saving equipment needs electricity. The vent has batteries but you always have to check on the battery life. We even have an outlet for the car for long car trips. A generator is a must in case of outages. All the monitors we rely on keep her safe. We certainly cannot do camping. Traveling on an airplane requires sufficient battery life.

This post is the hardest. There is no cure for ROHHAD. ROHHAD only affects children because typically they do not survive to adulthood so my only goal in life is to save my daughter & any child with ROHHAD. Now that you know more you can spread the word. No one knows the effects of ROHHAD and although Marisa has been basically stable for the last few years there is no guarantee she will not get another tumor, her brain will change her breathing, or that she will have a seizure. Will she be able to drive, go to college, will she marry, will she be able to have children….. The doctors cannot answer our questions. Please help spread the word and help us knock out this disease once and for all!