Two girls sit on a carpet playing happily when one reaches over and pulls a Dora the Explorer book out of the other’s hands. She looks at the book and then passes it back to her friend, who takes the book and shares it right back. This continues for some time, without incident. That’s right: no tears, no cries of ‘mine!’ and no tantrums.
The girls’ willingness to share comes not just from their bond of friendship, but also their biggest struggle. Keira and Eliza both have Sanfilippo, a rare genetic condition caused by the lack of an important enzyme in the body.
There are severe health consequences to Sanfilippo, but one of the side-effects also happens to be becoming less possessive. The girls’ parents call that open generosity ‘Sanfilippo sharing’ and it’s a cherished memory for Elise Drake-Esposito, Keira’s mom.
She wants people to understand there are still many moments of joy for parents whose children have been diagnosed with rare conditions like Sanfilippo.
“As heartbreaking as the diagnosis is, our kids are really special,” Elise said. “Families and parents treasure time...we’re in the moment.”
Answers for Keira
In 2015, the Drake-Esposito family had been hunting for a diagnosis for Keira for more than a year. They were searching for an explanation for why Keira had stopped speaking in sentences and could only string together a few words now; why she got so hyper and had so much trouble sleeping. Some had suggested Autism, but then the diagnosis came in for a rare genetic disease that over time causes deadly brain damage: Sanfilippo.
It was news no parent can prepare for. On top of that, Elise was weeks away from giving birth to a second child who might have the same deadly disease.
“What it felt like was, ‘Here’s the death sentence for your 5-and-a-half-year-old, we may be about to give it to you for your second daughter,’” said Elise. “We finally had an answer, but it was an answer no family ever wants to hear.”
Finding community in hardship
The family was stunned to learn that no cure exists for Sanfilippo, at a time when our knowledge of genetics and genetic diseases is expanding so quickly. They jumped into the fight to see what they could do to move research forward, and have been active ever since.
They fundraised and connected with other families affected by Sanfilippo to form a support system for each other.
They became Sanfilippo experts and built up a network of specialists needed to help keep Keira’s symptoms at bay.
And they contributed to research in other ways, like providing Keira’s de-identified medical records to advance research through AllStripes.
Elise likes that AllStripes can also help parents who are overwhelmed with keeping a binder of medical information for their children. AllStripes collects patients’ medical records on their behalf, at no cost, and makes them easily accessible in one place.
“I loved that I could just type in the doctor’s name and clinic name and you could find what you need,” said Elise, who was relieved to not have to handle more paperwork.
Elise and her family stay motivated to build community, find Keira the best care and push for new treatments because of the many Sanfilippo children they’ve met.
“The kids motivate me to keep pushing forward, the idea that things could be better for Sanfilippo children who are just being diagnosed,” she said.
Moving forward as a family and community
After first learning of Kiera’s diagnosis, the family waited anxiously to learn if their second daughter would also have Sanfilippo. Thankfully, she does not.
As for Keira, she continues to bring joy to her family and has strong bonds with her Sanfilippo friends.
Elise hopes people are motivated to talk more openly about conditions like Sanfilippo and to educate others.
“I always ask people, ‘Tell one person this week about Sanfilippo syndrome or share Keira’s story,” said Elise. It can make a difference.