By CARL MARIO NUDI
Over the past eleven years, the Humphrey family has been through a lot of tough situations that most families do not experience in a lifetime.
In February, Catriona Humphrey, 45, had an operation for a kidney problem she has been suffering with for almost 10 years, while her husband, Randy, 47, had a brain tumor removed in May 2018.
And all this time the couple and their three older children: Tyler, 22; Paige, 17; and Heather, 14, tried to live a normal life while taking care of the youngest child, Fiona, 11, who suffers from a rare disease, Sanfilippo Syndrome.
Sanfilippo Syndrome is a genetic disorder that prevents the breakdown and recycling of cellular waste, creating a toxic buildup of heparin sulfate.
According to the Cure Sanfilippo Foundation website, this buildup of heparin sulfate, especially in the brain, leads to “speech problems, developmental delays, challenging behaviors, extreme hyperactivity, and poor sleep.”
To help raise awareness of this debilitating illness, the Humphreys have started several social media pages and have commissioned a local filmmaker, Thomas John Nudi, to produce a documentary, “Fiona Humphrey, A Family Album,” of their family life dealing with their circumstances. Read about the documentary here.
When they moved from the Buffalo area to the small town of Okemos, Mich., outside the state capital of Lansing, in 2003, family life was typical for the Humphreys. Catriona got a job offer as a pediatric physical therapist at a hospital in Lansing. The couple had two children, Tyler and Paige, in New York, and two more in Michigan, Heather and Fiona.
Even though Fiona, born Aug. 14, 2008, was premature, family life remained normal for about seven years. “(Because) Fiona was premature, she spent a week in the (natal intensive care unit of the hospital), but she was healthy for coming that early,” Catriona said. “She was really healthy, and she was in great shape until she was two, and we started noticing that she was delayed in her speech. Many children with Sanfilippo have delayed symptoms and develop normally until around the age of two.
“But our son (Tyler) had been a late talker, so it didn’t seem like it was a big deal by our fourth child,” Catriona said.
They started speech therapy through early intervention services, but she said Fiona did not seem to be improving. “So we she started at specialist preschool so she could continue to get speech services through the school system, and, again, she didn’t make much progress over the year,” Catriona said. “They said she should have made some progress, even if she had been sitting at home not doing anything.”
Over the next several years they continued to have various tests done on Fiona as her condition continued to deteriorate. “She had a lot of behavioral issues then, which we thought were based on the frustration of not being able to communicate,” Catriona said. “And she needed tubes (in her ears), so we thought it still was a hearing problem. There were always reasons that we gave to why she was delayed or why she had behavioral stuff,” she said.
A neuropsychology test said Fiona might be autistic, as many children with the syndrome are initially diagnosed. “We didn’t really think so, though, because she had really good eye contact and she was social,” Catriona said. “She just couldn’t communicate.”
“She’s just couldn’t talk,” Randy reiterated during a recent interview in the Humphrey family’s Sheffield Glenn home north of Ellenton. “She was very active and she’d sing songs.
“She would know words of music but she wouldn’t communicate with you,” he said. “You could go up to her and you could ask her how she’s doing this morning, but you’d never get a response.”
Also confusing a possible correct diagnosis, according to Catriona, was that her daughter could follow directions, and Fiona knew her siblings’ names. And she would say Mommy and Daddy,” she said. So they went along with the autism diagnosis so that Fiona could receive services, such as speech and occupational therapy.
In the meantime, Fiona was tested for genetic disorders, and the first tests came up negative. But because Sanfilippo is so rare, one in 70,000 to 100,000, Randy said, it is one of those disorders they have to look for specifically.
“Unless they see certain facial features, which she didn’t really have when she was little,” Catriona said, “but she definitely has now — thicker, heavier eyebrows, the lips get bigger and they have enlarged tongues.” And all this time the heparin sulfate was building up in her cells, especially her brain cells.
To add to the family’s problems, Catriona started to get debilitating pains in her kidney, much like a kidney stone, about six years ago, around a year before they moved to Florida. “She lost a lot of weight,” Randy said. “She dropped down to under 100 pounds.”
But the family still tried to make life normal for the other children. Tyler was on the high school soccer team in Michigan, and the two girls, Paige and Heather, were active in gymnastics.
One weekend the two girls each had meets, one in Michigan and one in Florida. So the family decided to have Randy go with Heather to her meet in Michigan, and Catriona and Paige would fly to the meet in Florida. Randy has a twin brother who lives in Manatee County, so they could stay with relatives.
“As soon as Catriona got off the plane, her pain went down a little bit,” Randy said about his wife’s condition. They assumed it was the warm weather, so they decided to make the move to Florida in 2014.
Fiona’s condition continued to worsen with her falling and having seizures. This led to an MRI and CAT scan where it was discovered that a portion of Fiona’s brain tissue was missing. She started to have problems with swallowing and also problems walking. When she turned 8, a geneticist at All Children’s Hospital in St. Petersburg suggested Fiona’s problem could only be one thing, Sanfilippo syndrome. This was confirmed with more testing.
When Catriona researched this rare disease, she saw what the prognosis for Fiona would be. Children with Sanfilippo usually die in their early to mid-teens. Knowing their time with Fiona may be limited, and her condition will deteriorate, the Humphreys are trying to make family life as normal as possible for their other children.
Fiona will sleep only two to five hours a day, and when she is awake she has the full attention of at least one member of the family. With Catriona laid up much of the time with the kidney pain and Randy having to work, the three older children grew up helping to take care of Fiona
“I think it’s made the kids appreciate everything more,” said Catriona, “(Their outlook is) you’ve got to live for today because you don’t know what’s going to come up, so enjoy it now, and family is important.”
The children really pulled together a year ago May when their father had a grand mal seizure. Their mother had to spend all her time at the hospital as Randy recovered from surgery to have a golf ball size benign tumor removed from his brain.
Tyler moved back home to help, and the two girls stepped up to take over duties their father usually handled, all the while maintaining their grades at school. “They’re all really good kids, and they’ve got good heads on their shoulders,” Randy said with pride. “They’ve had to grow up and do things that normal people couldn’t even imagine.
He was in recovery and rehabilitation therapy for eight months, but now he is back to work. And Catriona has been improving since her operation in May. Considering what they have been through and Fiona’s prognosis, life in the Humphrey household has become somewhat stable.
“We know we’ve got a long and interesting road ahead of us, and we’ll keep playing all the way through,” Randy said with his positive attitude. “Luckily, Fiona still smiles.”
You can follow Fiona’s story on her Facebook page at www.facebook.com/fightforfiona, on Twitter @FightForFi and on Instagram at Fight_for_Fiona.