The blows came one after another. First doctors told Sonia Desormeaux that her son, Jacob, had serious kidney problems. Then they determined he was profoundly deaf and had a severe balance disorder that delayed his ability to walk.
There were frequent bumps and falls — Jacob was always black and blue with bruises. His parents constructed a helmet in order to protect his head.
“When he was a baby I would literally walk around with both arms around him, shielding him from everything,” Sonia said. “If there was a corner, the center of his forehead would find it.”
Sonia shepherded him from one specialist to another, and cared for him through surgery after surgery. But it wasn’t until 2006, when then-7-year-old Jacob began to experience vision loss, that a doctor at New York University was able to link the complicated symptoms. He told Sonia that her son was going blind, and sent her home to look up Usher Syndrome, a rare disease characterized by degenerative hearing and vision loss.
“I get home, and I look on the computer and I read my son’s biography,” Sonia said. “For the first time in my life everything makes sense and I don’t feel like I am completely crazy.”
The diagnosis was both a source of relief and frustration. The Desormeauxs finally had a name for Jacob’s health problems, but were dismayed by the lack of research and information on Usher Syndrome. In a race against time, Sonia began seeking out every scientist who had ever written about the disease.
Almost simultaneously, the Desormeauxs were shuttling between New York, Florida and Kentucky as Jacob’s father, superstar jockey Kent Desormeaux, pursued the Triple Crown. In 2008, as the Kentucky Derby approached, the media caught wind of Jacob’s condition and the family was caught up in a flurry of scrutiny. (Riding Big Brown, Kent went on to win the Kentucky Derby and the Preakness Stakes, but fell short at Belmont.)
Sonia remained focused on her son, harnessing the attention to launch Eye on Jacob, the first and only non-profit organization dedicated to supporting research for the treatment of Usher Syndrome. On Saturday, Sept. 25, the foundation will host its second major fundraising event, a dinner at the Desormeaux residence in La Cañada Flintridge. Tickets are available via e-mail at email@example.com.
“Funding research of Usher would cure so many other diseases also,” Sonia said. “It is amazing, there is little being done out there about it at all…If they can find out to cure Usher Syndrome it would literally change the lives of millions of people.”
Sonia’s efforts have taken her across the country and back. She helped produced a 30-second public service announcement that is airing on 10 major networks. She receives frequent e-mails from families affected by Usher Syndrome.
“I found myself being the counselor of these families, which is not a job I was planning on taking but it has kind of been handed to me because there are so many mothers and father and grandparents with all these unanswered questions,” Sonia said. “They have been feeling they way I was feeling for seven years and have no where to go and no guidance and no place to even look.”
The Desormeauxs have been able to give Jacob the best medical care money can buy, Sonia acknowledged, and her goal is to make those same resources available to everyone. The cost for testing for Usher Syndrome was $1,800, Sonia said. That number has been reduced to $187.
Now 11, Jacob is unable to see at night, and his peripheral day vision has begun to diminish. Without a cure, he will be blind by adulthood. However, with the help of cochlear implants, he can now hear most sounds. Coupled with lots of lip reading, he can carry on a normal conversation. He is currently in the fifth grade at La Cañada Elementary School, where he has endeared himself to teachers and classmates alike.
“He is a young man who lights up every room he enters,” fourth-grade teacher Laurie Hopkins said. “In the classroom he is enthusiastic. He has a zest for all he undertakes.”
Rosemary Martinelli has known Jacob since he was a 3-year-old in her class at La Cañada Preschool. It was Jacob, in fact, who coined her nickname. Unable to say Martinelli, he began to call her Mrs. Marshmelly, and the name stuck.
“He is one of the most remarkable children that I have ever met,” Martinelli said. “He is very, very intelligent. He does a lot of thinking. He can be quiet for a little while after he has observed something, and then he just says the most remarkable things. He has tremendous insight.”
Jacob’s thoughtful and unflappable attitude about his health problems inspires those around him, said family and friends. Last year, Sonia, her older son Josh, 17, and Jacob traveled to an Usher Syndrome conference. Sitting in a group of sick children, the discussion leader asked them if there was anything positive that could come from the disease.
“All the kids were hanging their heads, and having a hard time thinking of something positive,” Sonia said. “Jacob stands up and he goes, ‘I don’t know about you guys but I think it is really cool that when we get older we are going to get our own dog…Don’t you think that is cool that you are going to have this dog that is going to be a puppy and that is going to be trained for you to help you, and that dog is just for you?’”
There are plenty of challenges, Sonia said. Occasionally Jacob’s cochlear implants attract stares or questions. He trips over things around the house because he doesn’t see them at his feet, and sometimes he leaves the faucets running because he can’t hear the water. Nevertheless, Jacob continues to motivate his supporters to work for a cure.
“It is really sad and it is hard sometimes,” Sonia said. “I go through my mourning periods where I am feeling sorry for myself and the situation, but [Jacob] doesn’t let anything bother him. I truly just feed off of him.”