Local family shares daughter’s journey with Tay Sachs disease
They say 'it takes a village to raise a child', but Kristen Thornton brings new meaning to the phrase.
"We go back and forth obviously to a bunch of specialists. She sees several different doctors at DuPont. We also go to Children's Hospital of Philadelphia as well, as she sees their metabolism team."
Her village includes a team of doctors, 24-hour at-home nurses, and a handful of medical equipment.
It's all to care for two-year-old Cenzy, Kristen's youngest daughter.
Cenzy was diagnosed at just 11 months with Tay Sachs disease, a sickness requiring around the clock care.
But Kristen tells us it was a long road to diagnosis.
"When she was about six months, we noticed that she wasn't holding her head. Just little things like she couldn't sit on her own. She was having to be supported still, she still wasn't rolling over from side to side," says Kristen.
The Lincoln, Delaware family landed at A.I. Dupont Hospital for Children in Wilmington to get answers.
"I tested for problems in the muscle and because of her head control on her low tone but then everything was coming back negative," explains Cenzy's neurologist, Dr. Mena Scavina.
Tay Sachs is an extremely rare disease, inherited, that progressively destroys nerve cells in the brain and spinal cord.
It's so rare that even Cenzy's neurologist hadn't even seen it before in her own patient.
"This was really my first child in which a test came back to me saying that the lab findings were consistent with Tay Sachs.
The diagnosis, a complete shock to even Cenzy's doctors.
"It's very rare and often seen in Jewish populations. About 1 in 30 people of Jewish decent are carriers but neither mom or dad were and so that was not the first thing that I tested for," explains Dr. Scavina.
It was a diagnosis no parent should ever have to hear.
"I knew as soon as she said it, the diagnosis and the outcome. I knew there was no cure, I knew that basically there was nothing we can do. That most kids with Tay Sachs generally only live three to five years," says Kristen.
Precious time with their baby girl.
"She's started to lose her smile, which is the hardest for everyone I think."
A sign that Cenzy's body is regressing, but the sweet girl isn't done with this life, with long eyelashes and full lips, communicating as best she can.
Pampered like any two-year-old, with her mother painting her nails and brushing her hair. And despite the known outcome, her doctors and family are fighting it the best they can.
Dr. Scavina says, "The seizure control is a big thing because there can be ongoing problems if you're having more seizures all day long, so that's a big part of her treatment."
"If she's not sleeping, if she's having seizures, if she's got something going on there's times where I'll be up all day and then have to stay up with her all night because she's got something going on," explains Kristen.
Cenzy's journey is an important milestone for her doctors.
"I know for us for all of us who are treating her, it reminded us that this disease unfortunately still exists and even though it's rare we have to be aware of it and so testing Lysosomal enzymes or metabolism problems is very important."
It's just one of the reasons Cenzy's mother is sharing her story with us.
"The most important thing is, if you even suspect it I mean do the genetic testing it's like I said, it's seen in Irish families now," exclaims Kristen.
And in the meantime, Cenzy's family is making sure she's living life to the fullest.
"It's you just get up and do it everyday just like you usually do. We don't focus on the end we try and you know keep her going as much as we can," Kristen adds, "That's our biggest thing, to get her to see and do as much as we can in the short time that we've got her."
If you want to continue following Cenzy's journey you easily can, she has a Facebook page called Cenzy's Corner, where you can follow along with all her ups and downs as she continues fighting for her life.
For more information on Tay Sachs and how to get screened for it, you can visit the Tay Sachs website.