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Robert Downey Jr. Raises Awareness for ROHHAD Syndrome on Rare Disease Day

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Robert Downey Jr. is getting in on the celebration of Rare Disease Day 2019. The actor partnered with the U.K.-based charity ROHHAD Association to highlight just one of the many children who live with a rare condition around the world.

“Today is Rare Disease Day 2019 – Please meet some of the inspiring children and families battling the life threatening and life limiting, rare disease ROHHAD,” Downey wrote on Instagram. “It has been created to help raise awareness so please share this today for the children as this is their #RareReality.”

Downey linked to a video chronicling the journey of 8-year-old Aaron Hunter who lives with ROHHAD syndrome. It’s a rare, orphan condition that stands for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H) and autonomic dysregulation. It causes rapid weight gain and a variety of other symptoms such as trouble breathing at night that often leads to death at a young age. Hunter was diagnosed when he was 2 years old.

The video also features Leah Baldock, another child living with ROHHAD. Leah Baldock’s parents, Michelle and Mark Baldock, said one of the most difficult parts of Leah’s journey has been getting a diagnosis and having doctors believe them. Leah went undiagnosed for many years until she was diagnosed with ROHHAD syndrome.

Another child featured is Edwin Polese, who was diagnosed with ROHHAD syndrome when he was 3.5 years old after rapid weight gain. The video also talks with parents of children who have died, including Luca Pucella, who was good friends with Aaron Hunter.

“I am trying to raise awareness and money to help my doctors find a cure,” said Hunter. “I don’t want any more of my friends to die. We need your help.”

Hunter’s awareness efforts got a big boost when Downey posted about his story on Rare Disease Day to his 28.4 million Instagram followers. Hunter also got to meet Downey (aka “Iron Man”) in person after about a year of correspondence.

“Aaron Hunter is an amazing young Scottish fellow,” Downey said in the video. “We were introduced and as I got to know him more, I just got caught up in the spirit of his desire to help others like himself who have this extremely debilitating disease called ROHHAD.”

A rare disease is defined in the U.S., based on the Orphan Drug Act of 1983, as a condition that affects less than 200,000 people. The definition is similar in other countries. For example, rare disease is defined as 1 in 2,000 people in Europe. According to the Genetic and Rare Diseases Information Center, there are as many as 7,000 rare diseases and only 5 percent have treatment options. An estimated 50 percent of rare diseases affect children.

While you may be one of the few people worldwide who live with a specific rare disease, you’re not alone. Mighty contributor Brittany Z. highlighted this in her article, “Why the Rare Disease Experience Is Not So Rare After All.” She wrote:

Rare disease itself though, never takes a day off, and neither do those struggling, caregiving, supporting or treating rare disease. We must face each day with the same tenacity as the day before. We push forward to give hope, bring awareness and fundraise for the treatment our children need to continue on. We really aren’t that rare.

In order to give people like him hope, Hunter came up with an “Avengers”-themed puddle jumping challenge. He decided puddle jumping should last for 33 seconds because it would be fun for participants. Downey obliged and filmed his awareness promo in a red wig, red Scottish tam o’shanter hat and white suit set to Van Halen’s “Jump.”

If you want to join in, you can visit the ROHHAD Association’s website

Image via Creative Commons/Gage Skidmore

Originally published: February 28, 2019
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