Imagine if you can that you have a baby daughter who spends the first year of her life achieving all of the normal milestones: babbling, playing with toys, sitting up. Then you begin to notice that she’s lagging behind a bit; she’s not pulling herself up or crawling like her twin brother is. At first her doctors reassure you that it’s normal, that children develop at different rates.
On the advice of your pediatrician, when she turns one you begin some early intervention physical therapy, but at the age of 16 months, she abruptly stops talking. She stops sitting. She becomes agitated and cries inconsolably.
Then two weeks before Christmas, when your baby is 20 months old, you receive the devastating results of a genetic test: Rett Syndrome.
Lena DeSantis of Mattituck doesn’t have to imagine what this feels like, as this is her story and the story of her 5-year-old daughter Maren.
“That was the day our lives changed,” says DeSantis, her voice trembling.
Rett Syndrome is caused by mutations on the MECP2 gene of the X chromosome, making it almost exclusive to girls. It is a neurological disorder that occurs worldwide, across all races and ethnicities.
Rett affects the brain’s ability to function, causing problems with learning, speech, mood, movement and a host of other things. The disease is not degenerative, meaning that the neurons in the brain are intact, but they are impaired.
It’s a heartbreaking disease, causing a thriving baby to suddenly stop developing and then regress, losing skills she had acquired in her early months.
For DeSantis, watching Maren lose the use of her hands was perhaps the worst to witness.
“Losing the use of her hands means she can’t reach for things, she can’t play with toys, she can’t point to what she wants,” says DeSantis. “Sometimes I think that’s the most debilitating.”
Maren, who is unable to walk, talk or feed herself, has received intensive physical and occupational therapy since she was two years old, but much of it is maintenance, says DeSantis. It’s an ongoing effort to keep her muscles stretched and supple, to stave off scoliosis, another result of Retts.
Because of her inability to speak, communication is difficult. Maren uses a Tobii eye-tracking device, which allows her to “speak” using her eyes.
“The other day she kept going to pages with ‘spring,’ ‘weather’ and ‘today,'” says DeSantis. I asked her if she was trying to tell me that it was the first day of spring and she nodded. So she’s in there. I know she’s in there.”
Recently, DeSantis has found a reason to hope for a cure.
The Rett Syndrome Research Trust has released a Roadmap to a Cure, which outlines a plan to cure Rett and includes a gene therapy trial as its centerpiece. Several studies have completely reversed Rett in animal models and confirm that the same could be possible in humans.
In Maren’s case it’s theoretically an easy fix, says DeSantis, although she adds that even if the defective gene could be replaced, Maren still would face years of intensive therapy.
“Genetic engineering gives us a tool and RSRT will go to the FDA with a study protocol to do a genetic engineering clinical trial, hopefully by next year,” she says.
But it takes a lot of money for the research and funding for the Roadmap to a Cure comes from the Rett community, with families holding fundraisers and soliciting donations.
On May 20, the second annual fundraising race, Out Run Rett, will be held in New Suffolk with the sole aim of raising money for the RSRT.
Last year’s inaugural race attracted over 200 runners despite unseasonably cold weather. DeSantis hopes that this year the crowd will be even bigger.
Like last year’s race, this one will honor two Southold residents afflicted by Retts: Maren and a 14-year-old Southold High School student named Rachel Garms.
“It’s shaping up to be a great event,” said DeSantis. “The whole community is getting involved.”
Several children from Cutchogue East Elementary School proposed raising funds in the best way they could think of. Brothers Rafa and Luke Finnerty, ages 7 and 5, will be selling handmade bracelets and keychains, and seven-year-old Reese McKenna will hold a bake sale at the finish line.
Several local businesses and organizations have pledged sponsorship, and DeSantis would love to see more chip in.
This year’s theme is “superheroes” and runners are encouraged to wear superhero costumes in honor of the real life superheroes helping Rett sufferers fight and eventually win the battle against the disease.
“If the gene therapy is successful it will probably be taken over by a drug company and we’ll never have to have another race again,” says DeSantis. “But since it’s early in the stages, all of it is self-funded by the organization and parents.”
The race takes place on May 20 at 9 a.m. in New Suffolk. Check-in begins around 8:30 a.m. Preregistration online is required.
If your business or organization would like to help out with a sponsorship, call Lena DeSantis at 631 594-2222 or send her an email.
If you can’t run but would like to donate, you can do so on the Rett Syndrome Research Trust website.