February 28th is National Rare Disease Day and we are excited to be raising awareness about ROHHAD Syndrome over the next 12 Days! Please feel free to share these posts and help spread the word! With every person we reach we are one step closer to finding a cure! ❤
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.
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 over weight.
The letter “H"in ROHHAD stands for hypothalamic dysfunction. This is a problem with part of the brain call 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. Examples:Marisa cannot be in a place that is too hot or too cold because she takes on the temperature of that area and will become either overheated or too cold much faster than a child without ROHHAD. Marisa has to check her sodium frequently because if it gets too high she could have a seizure. We check her blood by using a small needle to poke her finger and squeeze the blood into a tube.
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. Marisa needed to be placed on a ventilator when she was 4 years old. It is like having a leash on your neck because you are limited where you can go without assistance. Either Marisa needs someone to carry the vent for her or it is wheeled in a bag or a cart. With the vent she now can no longer be free to roam where she wanted when she wanted. At night she not only needs a ventilator but also needs a machine to monitor her CO2, O2, heart rate and breathe rate. When these numbers go higher or lower the vent settings have to be changed. When she does not use the vent we have no real way of knowing the effect to Marisa without attaching her to other machines but she must have the opportunity to be free.
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).
These include eye abnormalities such as altered pupil response to light, “lazy eye”(strabismus), intestinal abnormalities such as altered motility which causes chronic constipation or diarrhea, temperature dysregulation with episodes of very high body temperature (hyperthermia) or more typically very low body temperatures (hypothermia), decreased sensation of pain, low heart rhythm that may be so slow that a cardiac pacemaker is required, altered sweating, icy cold hands and feet, and many other symptoms reflecting dysregulation of automatic functions.
Marisa has all of the above.
Ganglioneuroblastoma! Another new word we learned. We learned this word before ROHHAD. It's 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 to see if any more tumors have developed which is either by MRI or Catscan which includes with contrast ( an IV which sends fluid into veins).
What if the tumor forms on her other adrenal gland? What if it forms on her brain? ...
We had no idea what ROHHAD meant at that time and the horrors it would unfold for Marisa.
This day linked ROHHAD to Rare Disease Day. This post is less technical and focuses more on the day to day effects of ROHHAD. Because Marisa has a tracheotomy (trach) and the ventilator she has limited physical activity. No swimming. Marisa has a small hole in her neck so if large amounts of water got into the hole she would drown. Even without the trach you would have to be careful swimming because ROHHAD children have no sense to breathe so they would stay underneath the water & not even realize they were drowning. The ventilator limits vigorous activity & her mobility. 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. Marisa’s fingers are constantly swollen so she lacks the ability to grip a stick or even hold a pencil. Yes Marisa handles the limits well but just image always having a 15 pound object on you or near you & never being able to be without it and your 5 years old and now 11. Basically a chain and ball around your neck ( not to be cliche) holding you back from what your spirit wants you to do.
(In light of Rare Disease Day!)
No privacy- imagine not being able to go anywhere alone. 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 (cannot breathe) or there is 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 so sleepovers alone without her nurse or parent are impossible. She is not able to go to school or do any activity (chorus, acting, movie night) by herself. Marisa is now 11 so her lack of privacy gets harder and harder for her. It has to be strange to always have an adult around you and watching you while you sleep. What about college… Hopefully by then there will be a cure.
We are heading toward Rare Disease Day on 2/28. There are approximately 100 reported cases of ROHHAD in the world.
Suctioning is a daily activity for Marisa.
Marisa has a trach which needs to be cleaned every day at least 3 times a day. Suctioning means you have a small tube which is 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 air way. The squirting of water is like choking on water. Did you ever have water go down the wrong tube in your throat -well that's suctioning for Marisa.
When you have to think about how ROHHAD affects everyday life one of things that came to mind was electricity.
When you have a child with ROHHAD you are Dependent on electricity because all of the life saving equipment needs electricity. Thankfully the vent has batteries which gives Marisa mobility but you always have to check on the battery life. We even bought an outlet for the car so that we could take longer car trips. We also have a generator because the loss of electricity for a long period of time would be catastrophic. The suction machine which is needed to clean her trach daily runs on electricity plus all the monitors we rely on to keep her safe. We certainly cannot do camping or any other sort of similar activity. Even when you travel on an airplane you cannot take any flight that would go beyond the battery life. Plus You hope there is not an extended delay. When you travel outside the country you have to make sure your equipment matches your adapter. We learned the hard way it doesn't always work & if we did not have a resource in a local hospital we would have had to return home. Some of the day to day things taken for granted are what families with ROHHAD have to put great thought into before making any plans.
I really appreciate your support these 12 days. Thank you!
Sickness/Injury is something we dread. When Marisa gets sick it means we have to be on high alert. At night she will now need O2 to be added to the ventilator and much more suctioning. We have to be afraid of pneumonia. One on 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.
Also surgery is terrifying because if the anesthesia is too strong a dose she may never wake up. Also we have to be concerned with her sodium levels. Her 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. One of my worst fears is a car accident & we are not conscious to explain all Marisa's issues. We did but a medical letter on her vent so hopefully that would work.
CAMP. Sounds like it would be 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 she was four years old. 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 (before it was at least 3 times 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 12th day of ROHHD
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 and do not know what causes ROHHAD. The researchers are on a quest to find a cure so we continue to hope and support Marisa in her fight against ROHHAD.
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The ROHHAD Association, ROHHAD Fight Inc., and the Center for Autonomic Medicine in Pediatrics (CAMP) at the Ann & Robert H. Lurie Children’s Hospital of Chicago have partnered with families and friends around the world to produce and publish the very first edition of the ROHHAD Reader – a ROHHAD newsletter designed specifically for families whose everyday lives are affected by this rare disorder.
Within the pages of this ROHHAD Reader, you will find research updates, family stories, fun photographs, researcher spotlights, information about upcoming events and fundraising opportunities, helpful resources, shared experiences, and diverse perspectives. We hope that these pieces will help us establish open and accessible lines of communication and build a strong sense of community among the physicians, researchers, foundations, and families who are all committed to improving the lives of children and adults affected by ROHHAD.