Eli’s family raises awareness for PTHS in Kenora, Canada

Friday, September 13, 2013 1:52:33 EDT PM

Eli Bird has an extremely rare genetic condition called Pitt Hopkins Syndrome; one of only a couple hundred people in the entire world with disorder. His therapist from the Kenora Association for Community Living, Mel Howard, comes to his home regularly to work with him. 

Eli Bird is three-and-a-half-years-old and cannot speak or understand the words people say to him. He lives with his parents and three older brothers in Kenora, and although he is very shy, he loves to play with his therapist. While there are many things Eli cannot do, he can walk and run, which is more than doctors told his parents they should expect.

Eli has an extremely rare genetic disorder called Pitt Hopkins Syndrome, so rare in fact, there are only about 200 known cases in the entire world. Until six years ago, there wasn’t even a test to confirm a diagnosis. But despite its rarity, Pitt Hopkins Awareness Day is on Sept. 18 to raise money for the very few research projects working on possible treatments for Eli and those like him.

“Getting a diagnosis was really hard, partly because of where we live and because it is so rare nobody had even heard of it,” says his mother Heather Bird. She had looked for a diagnosis since her son was a couple months old and suggested Eli’s doctors test him for Pitt Hopkins after reading about it on the Internet.

“When I suggested it to two geneticists in Winnipeg, they both dismissed it right away. Eventually I asked for a fourth opinion from a doctor in Hamilton. When I sent her his pictures and information she agreed to do testing right away. So we flew down to Hamilton and the test came back positive. That was a year ago.”

Pitt Hopkins Syndrome is caused when someone is either missing or has a mutation of one of the copies of their TC4F gene. It is not hereditary and is a completely random occurrence. The condition causes intellectual disability, difficulty with walking, and an almost complete inability to learn language skills. Why this happens is not understood since there is almost no research into Pitt Hopkins in the scientific world.

Since getting her son’s diagnosis, Heather said she has found a very supportive community of parents with Pitt Hopkins kids from all over the world who talk, share stories, advice, photos, and videos with each other through social media. She is even planning to go to a moms’ retreat in South Carolina next year.

“The support group is really important because even the doctors have probably never seen a kid with Pitt Hopkins, so the parents are the best place to get info. It’s funny sometimes. Eli loves to play with empty water bottles, and we all laugh online because all the kids think empty water bottles are the best things ever,” she said.

While communication is one of the family’s biggest struggles in taking care of Eli, other parents from London, Ontario have shown her that it may be possible for him to speak someday.

“We had just got his diagnosis, and it was very bleak because we were told these kids don’t walk, they don’t talk, they have issues learning. But this other little fellah who was seven, came running to the door saying ‘baby, baby, baby. baby, baby” because his mother had told him a baby was coming over … that was really encouraging.”

While Eli does have Mel Howard, his therapist provided by Kenora Association for Community Living and has been helped by the Firefly Program, there are no other treatments available for him. But there are researchers, few as they are, who are trying to change that.

Dr. David Sweatt is the chairman of the Neurobiology department at University of Alabama, and is leading one of the only research projects into Pitt Hopkins Syndrome in the entire world.

Sweatt and his colleagues have been genetically engineering mice to produce specimens born missing a TC4F gene. They hope to create mice with their species’ version of Pitt Hopkins Syndrome which can then be used in the lab in the search for possible medical treatments to help alleviate the symptoms in humans.

“It’s very important to have a laboratory animal model so you can try out drugs, try out other kinds of treatment modalities, and do real detailed analysis of their neurosensory responses, their neural anatomy, look at the secondary changes in the gene readout and things like that which might be caused by Pitt Hopkins,” explained Sweatt.

The project isn’t at the point where they can use the mice to look for treatments, at the moment the researchers are studying the mice’s behavior so they can confirm that they have reproduced Pitt Hopkins in the animals. While all the findings are preliminary, Sweatt says the alterations to their genes seem to have produced the Pitt Hopkins-like behavior.

“I’m very excited by our findings. It seems pretty clear that the genetically engineered mouse model is recapitulating some of the memory and learning deficits present in Pitt Hopkins patients. There is some clear dysfunction in their learning and memory when we use some simple training paradigms for live animals such as Pavlovian associative conditioning.”

Sweatt’s project is being funded by the Pitt Hopkins Research Foundation, which was started by another Pitt Hopkins mother. The foundation is hoping to raise awareness as well as money and more research by promoting Sept. 18 as Pitt Hopkins Awareness Day.

Alan.Hale@sunmedia.ca