ROHHAD and My Son, Josh & my clinical update

My son, Josh (you see him standing beside me in the picture below) is one of a very few people in the entire world diagnosed with a syndrome called ROHHAD.

My son Josh and me on Mother's Day 2013

What causes ROHHAD is still unknown. There is no specific test to take to prove a person has it.  It is diagnosed by ruling out all other known causes of the symptoms.

Here is a list of some ROHHAD symptoms:

1. sudden weight gain regardless of food intake or exercise
2. unable to feel shortness of breath when oxygen is low or carbon dioxide is high in blood
3. failure to produce hormones that make you grow or develop in puberty
4.  inability to regulate body temperature or hydration

for a full list of symptoms that have been described, visit http://en.wikipedia.org/wiki/ROHHAD#Symptoms

Many parents like me who have children diagnosed with ROHHAD stay in contact via Facebook.. where we compare our kids' symptoms, progress and treatments.  We give each other encouragement and search for answers for our kids.
 
Below are some videos made by a few of the families of ROHHAD chilren to share their stories.

  This March, we got an opportunity to meet in person with the family of a child diagnosed with ROHHAD.

Josh Wooten, 16 with Antonio Laguna, 6 both have ROHHAD

  Antonio and his family came to our home, along with a TV news crew who filed this report:

12 News KBMT and K-JAC. News, Weather and Sports for SE Texas
Killeen Boy With Rare Medical Condition Meets Child With Same Sy - 12 News KBMT and K-JAC. News, Weather and Sports for SE Texas

While most of the children with this disorder are able to be managed at home most of the time, some are in and out of the hospital frequently.  One, 9 year old Kira in Chicago spent months in the hospital because of her deteriorating condition.  And, unfortunately, we got news last week of her death.

9 year old Kira with her father

Chicago Tribune article: Girl, 9, dies after battle with rare debilitating disease

Kira Mammoser Obituary

As I read the many accounts Kira's mother wrote about her daughter's battle with ROHHAD symptoms over the years, I recognized they were very similar to my son's  only at a younger age. Joshua's symptoms, especially his obesity and hypoventilation (not sensing he needed to breathe) came on when he was 8 and a half.  I even suggested to Kira's mother she may benefit from getting phrenic nerve pacers like Josh has.  I envisioned her quality of life improving so much if she could experience freedom from the ventilator that kept her alive.  She had the surgery, and was only able to try out the pacers briefly.  Her multitude of symptoms just kept getting worse and worse.  And upon hearing of her passing, it really struck me on a personal level and I grieved the hopes I had for Kira of a bright and happy future.  My condolences go out  to her family.

Meanwhile, my search continues into the cause of my son's medical issues and ways to deal with the many symptoms to prevent them from overcoming him.

Below are links to some published studies related to Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD syndrome):

Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation.

Monozygotic twins discordant for ROHHAD phenotype.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature.

Intrathecal Synthesis of Oligoclonal Bands in Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome: New Evidence Supporting Immunological Pathogenesis.

Oxidative Stress in the Hypothalamus: the Importance of Calcium Signaling and Mitochondrial ROS in Body Weight Regulation.


There are many, many more articles associated with the symptoms of ROHHAD and the area of the brain that seems to control those functions.

If you missed it.... I now have the Discovery Channel Documentary in it's entirety on YouTube.  Here it is:




I am also finishing up the last couple of months of respiratory school.  I decided I wanted to use what I've been learning by taking care of Josh with his equipment and symptoms to help other people and to help earn money for our family's needs.

I still don't know for sure where I want to work once I finish school.  I am considering beginning at a big teaching hospital where I could work in any number of areas... with babies, children, adults, in intensive care or with pulmonary function testing, home care, transport, in public education or some other sub-specialty I haven't even realized yet.

I had a wonderful time at my last clinical location.  I got the opportunity to shadow a critical care doctor who is also a pulmonologist with a pulmonary function lab and specializes in sleep medicine.  He is also the Chief Medical Officer for the Emergency Management Division of the Baptist Children and Family Services.  He shared with us his missions he has gone on to treat victims in Haiti following their devastating earthquake a few years ago.  Below is a video of a local TV talk show from the time of the Haiti trip where they visited with this doctor about the mission: