On a recent fall day in the 40s – just warm enough to play outside for a short time – the Wood family headed to the Phelps Grove Park playground.
John and Rachel Wood and their children, six-year-old Oren, four-year-old Avyn and two-year-old Ellowyn went down slides, played musical instruments and just had fun being together.
Like parents do, the Woods are savoring every moment they have with their children while they’re young, but especially with their oldest – six-year-old Oren -- who has Sanfilippo syndrome.
They didn’t have any indication there was anything wrong when he was born – the birth was normal, and Oren didn’t have any major health issues – just a minor one for which he would eventually have two surgeries to correct. And until he was about two, he met all his milestones.
"He talked earlier than, like, even than our other children have," said Rachel. "Knew all of his colors. Before he was about 18 months, he knew all of his colors." added John. "Yeah, so we really had no concerns with anything up until about a little bit after he was two," said Rachel.
That’s when John and Rachel began noticing that Oren was forgetting words and colors and he could no longer count past three. The regressions only got worse as he got older. He scored low in speech at his developmental screening through the local school district, and that qualified him for a special needs preschool, which he attended.
Kids with developmental delays often benefit from more intense intervention, but Oren wasn’t improving. He was also having GI issues. So his mom began researching to try to find answers.
"We felt like something was going on," she said, "and I just kept kind of researching online and looking for answers, like, reading forums and trying to get somewhere."
When Oren was about four and a half, a friend of Rachel’s saw something on social media.
"She messaged me and was like, 'hey, I just saw this thing on TikTok, this account on TikTok, with a little boy who looks just like Oren.' And she goes, 'it's so crazy, but it's a disease called Sanfilippo syndrome. Maybe you can look into it, and that would give you some answers.' "
Sanfilippo syndrome
In Sanfilippo kids, the body is unable to break down heparan sulfate, a glycosaminoglycan also known as a mucopolysaccharide, which is a complex carbohydrate in the brain, according to the Cleveland Clinic.
"Our bodies, like, if you're typical, you have an enzyme that will just break that down and remove it from your system," said John, "Oren doesn't, and other kids with Sanfilippo Type B don't, so it builds up in the brain, and it has a lot of ramifications that just go through your body. Kids are pretty typical until the buildup becomes too bad and then they start exhibiting, like, kind of Alzheimer's-like symptoms."
There are four types of Sanfilippo, and each involves the lack of a different enzyme for breaking down heparan sulfate.
While the Woods didn’t yet have a diagnosis, they felt certain they’d found their answer.
"I remember out kids were just watching, you know, something on the TV, and we were over in the corner just crying together because it just — it explained everything," said John. "And the next couple of days were both just kind of in a really dark place and trying to get ahold of our pediatrician and trying to get a referral to get a geneticist to look at Oren."
Diagnosis
The Wood’s pediatrician made a referral to a geneticist at Children’s Hospital in Kansas City. Even before Oren was tested, the specialist there felt certain just by looking at him that he had the illness. Sanfilippo kids tend to have certain physical characteristics like thick eyebrows, a full bottom lip and a low nasal bridge.
Two weeks after testing and a long wait for the Woods, it was confirmed. Oren had Sanfilippo Type B.
"We were talking to our geneticist about just next steps," said John, "and she goes, 'there's no viable treatments, no cure. Our job is to make sure he has the best life while he has life to live. And so that means he's going to be in OT and PT to retain skills longer, hopefully, and build strength. I mean, it was kind of another devastating moment because we were hoping something is out there, and there is — at the time that we learned about Oren, there was nothing."
Life expectancy is in the teens. The Woods initially had very little hope that there was anything that could help their son.
Potential treatment
They happened to see a Facebook post in November that more than a dozen Sanfilippo families were trying to raise $3.8 million by December 1 to secure a spot for a new drug to be made for Sanfilippo Type B patients.
"There's a company that figured out they could put like a — kind of a node in the brain, like in the head, they drill to the brain and just directly inject the medicine into the brain that removes the heparan sulfate and which wasn't possible before now," said John.
They not only met that goal – they exceeded it.
"Together, over the course of one month, we have altogether raised five-and-a-half million dollars," said Rachel.
The Cure Sanfilippo Foundation contributed $1.2 million to the effort, according to the Woods.
The couple knows there are only a few slots available for the treatment and that not everyone will be eligible, but they have hope.
"So we are all essentially raising money just for the hope of the treatment, the chance of the treatment," said Rachel.
"And either way, even if Oren doesn't get in on the expanded access, it's still on the track to maybe getting FDA approved and maybe being more for general access," said John, "so it's still throwing your money at something. I mean, before this, I told you, it was just palliative care and then so it goes from that to, 'hey, there is a fight to be won. There's a target to hit,' and so as a parent it's just, you've got to throw all your full weight into that because, I mean, there was nothing, and now there's something."
Sanfilippo is genetic, and the Woods recently found out that, although their daughter is a carrier, she does not have the disorder. Their other son isn’t a carrier.
Oren
When I met the Woods at the park, Oren immediately ran up, grabbed my hand and pulled me to the play set.
"He's always been very outgoing and pretty easygoing for the most part, too," said Rachel. "He loves spending time with people. He's very social. He loves art. He's very creative, like he loves to color and make things."
"He's always been very joyful and very expressive," said Rachel, "and I remember..." "He loves to laugh," added John." "Yeah," said Rachel. "He truly is very joyful. The hardest thing is seeing the ways that the disease changes that for him and how he does experience discomfort and pain and so many challenges because of that. And he becomes misunderstood, like, you know, by people or by his peers."
The Woods hope to know soon if Oren will be one of the Sanfilippo kids chosen for the new treatment.
Meanwhile, they have a GoFundMe set up called Save Oren, and they have a family page set up on the Cure Sanfilippo Foundation website. Money raised will go to the foundation for ongoing research efforts.
