Gotta Catch ‘Em All


I know more about Pokémon than I care to admit having raised three kids who are now adults. While I’m at a point in life where I’m looking to declutter my house, tossing out Pokémon cards has been a tough thing for me to do because of the lasting sting from the loss of my own baseball cards to the waste bin in a burst of spring-cleaning madness (my mother in I have different memories of the circumstances). Now, though, I can get rid of every Pokémon in my house with a clear conscience in the name of a worthy cause thanks to Jill Wood.

When Wood’s son Jonah went for a routine exam at age 1, his pediatrician was concerned about his head being unusually large and suggested he get an MRI.

That suggestion from the doctor was the start of a nine-month period of testing that led to a diagnosis of Sanfilippo syndrome, a lysosomal storage disorder also known as mucopolysaccharidoses III, or MPS III. In the case of Sanfilippo syndrome, a genetic mutation causes a deficiency in an enzyme needed to properly break down a certain carbohydrate. Fragments of metabolic waste from long sugar molecules that have not been properly broken down accumulate in the cells. Over time, this causes progressive damage to the central nervous system and other parts of the body.

Doctors told Wood and her husband Jeremy Weishaar that Jonah would never be able to speak full sentences. It was unlikely that he would ever be able to say the words ‘I love you.’ He would probably never get out of a diaper, would most likely be in a wheelchair by the time he was 10, and would probably die by the time he was 16.

“Jonah is rocking and rolling. He can read, he can do simple math—adding and subtracting—and I believe all of this is because of his early diagnosis. We got him into early intervention the next day,” said Wood of her son, who is now 9. “He had speech therapy from 2 to 4, full-time special needs pre-school, and was worked with nonstop. We had his hearing taken care of, had his adenoids removed and his sinus infections stopped. And we were able to understand why our child was a Tasmanian devil (hyperactivity is a common symptom) and deal with that. It makes it so much easier if you have the tools to works with a child at that level.”

Diagnosing Sanfilippo syndrome can be tough. The early signs—diarrhea, sinus infections, speech delay, hyperactivity—can easily be ignored by a doctor as things a child will outgrow, or behavioral symptoms can be misdiagnosed as autism. There’s currently no treatment for any type of Sanfilippo syndrome, but because Jonah’s physician was alert, the early diagnosis allowed his parents to take quick action.

Wood and Weishaar set up Jonah’s Just Begun-Foundation to Cure Sanfilippo as soon as Jonah was diagnosed. And while their experience has allowed them to appreciate the importance of early diagnosis, their pursuit of a cure has also set them on a mission to help diagnose more patients. They are hoping to advance a gene therapy for Sanfilippo type C into human clinical trials, but believe they need to find more patients to develop a compelling case for a biotech company to become interested in getting involved in advancing the therapy.

There are four types of Sanfilippo syndrome. Each type involves mutations in a different gene and results in a different deficient enzyme. Jonah has type C, which is the rarest form of the disease. The good news is that it’s a less severe form of Sanfilippo syndrome, but because of the fewer number of patients with the condition—1 in 1,400,000 versus 1 in 70,000 for the four versions combined—it’s challenging to get drug companies interested in developing therapies for the condition.

To raise awareness among pediatricians who may come across patients with Sanfilippo syndrome, Jonah’s Just Begun has launched the Mission Hide and Help campaign. The campaign, crafted with the help of friends of Wood’s who work in the public relations industry, involves kids wrapping rare Pokémon cards in a sleeve and hiding them in the doctor’s office for the physician to find.

The sleeves that hold the cards carry a message for the doctor: “Nobody can find ultra-rare things like you do. Now I need your help finding ultra-rare diseases in your office. The earlier you find them, the higher the chances to find a cure. Visit missionhideandhelp.org or text ZEBRA to 7970979 for more info.”

The hope is by pointing out some of the telltale signs of Sanfilippo syndrome to doctors—notably the unique facial features kids with the condition share—they will be more readily able to diagnose children with the condition.

Though the campaign had a soft launch in September, it officially launched in the wake of World Rare Disease Day with a party at Brooklyn Game Lab in Brooklyn, New York. In addition to kids stuffing Pokémon cards into sleeves, they got to play games, take a picture with the iconic Pokémon Pikachu, and meet a 12-year-old professional Pokémon player (apparently there are such things).  

Kids who would like to participate in the campaign can download the card sleeve from the Mission Hide and Help website, slip a Pokémon  card in the sleeve, and leave it with their doctor. Wood is also working her way through state directories of pediatric specialists to mail the cards in sleeves to them. More ambitious kids can organize their own party to extend the effort. And, they can share the video below promoting the campaign.

Wood mentioned that people from around the world have been sending her Pokémon cards to support the campaign. That put a smile on my face.

“Are you accepting donations of cards?” I asked, eager to do my part in combatting rare disease.

She said anyone can send cards to:

Jonah’s Just Begun
PO Box 396
Levittown, NY 11756

Gotta mail ’em all.

 

March 6, 2018
Photo: Mission Hide and Help

 

Filed Under: Awareness, Global Genes, In Rare Form, Insights, People & Organizations, Rare Community

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