QUINCY (InvestigateTV) – The Kempf family received two devastating news.
Both of their children were diagnosed with Sanfilippo Syndrome Type B, a very rare genetic disorder that affects about 30 children in the United States.
Nine-year-old Poppy and 2-year-old Oliver both have the disease. Kyle and Megan’s parents say Oliver is the youngest person ever to be diagnosed with the condition in the US.
“She’s very happy. She has a lot of energy. She’s loud, happy and loves to sing,” said Megan Kempf, describing Poppy. You can tell he’s happy because he’s singing.
Kyle Kempf said Oliver “has his 2-year-old nopes” but “you can hear his laugh a mile away.”
A six-year journey to diagnosis
Kempfs search for answers took six years of selection, tests and evaluations. The first symptoms appeared when Poppy was 3 years old.
Megan Kempf said: “He had little developmental or behavioral problems, but he was our first child, our only child.” “There was this kind of period where we were trying to identify what was normal for a child’s development and what might have been the conditions.”
The timing coincides with the COVID-19 shutdown, complicating their analysis.
“You know, we would be drawing well and all of a sudden we couldn’t draw well, and we would work hard to restore that skill again. But, it was something that didn’t make sense to talk to doctors and experts about it. That’s not a normal way for kids to achieve a skill, lose it, and come back again,” said Megan Kempf.
Kyle Kempf said the review process is long and frustrating.
He said: “You go into all these deals and you feel like a crazy person. “The doctor just gives you a generic like oh three, let’s take them, everyone learns at their own pace.
“No parent wants to say there’s something wrong with their child, so we were trying to ride that maybe some of this is normal, but we can’t wait forever to see if it’s normal.”
A gentle peck on the cheek finally provided the answer. Poppy was diagnosed with Sanfilippo Syndrome Type B a few weeks after receiving her autism diagnosis.
Because the test was genetic, Megan Kempf said they knew they needed to get Oliver tested.
“We didn’t look at him and think it’s a carbon copy of him, there’s no way he’s not. I think we both felt like the writing was on the wall, but there was hope that it wouldn’t be because the information was very different,” said Megan Kempf. But yes, when we got the news, it was very stressful.
Understanding genetics
Kyle Kempf explained the genetic component of the disease.
He said: “One in 72 people in the US has this gene. There is a 25% chance when two of those carriers meet that you pass it on,” he said. “You have to have two copies of the inactive gene to reproduce.”
Neither parent had a family history of this condition.
“None of our families have ever shown anything like this,” Kyle Kempf said. “This is the story of a rare genetic disease, a silent killer until two genes meet.”
The progression of disease and development
Sanfilippo Type B affects the ability to walk, talk and eat. Life expectancy is about 15 years.
“The average is they don’t make it past their teenage years, and when they do by 11 they’re usually immobile and can’t talk, using a feeding tube,” Kyle Kempf said.
Megan Kempf said that Poppy’s progress is noticeable soon.
He said: “Just in the last year you can tell the progress, it gets stronger as they get older. “Time is not on our side.”
Kyle Kempf explained the daily challenges.
“Basically, we’ve been raising a 2-year-old for seven years,” he said.
“There are sleep problems. There are many things that make life difficult,” Megan Kempf added.
Fighting for a cure
The Kempfs are working with other affected families and nonprofits, including the National MPS Association and the Cure Sanfilippo Foundation to raise $3.8 million by Thanksgiving for access to basic treatment.
“When we were diagnosed there was nothing, there was no treatment, there was no cure,” said Megan Kempf. “To be told a few months later that all that stands between you and something is money, we were fine, it’s nothing.”
Kyle Kempf says they consider the treatment a bridge until a cure is found.
“There are some big doctors that I think are between two to five years away from having a drug product abroad, but they need time to do all the safety and production tests, with the FDA,” he said.
The couple said they refused to give up.
“We just want to make sure we can’t look back and say we didn’t try that or we didn’t participate in that,” Kyle Kempf said.
They said they are relying on their faith and hope for a bright future ahead.
“It’s called Alzheimer’s in childhood, but we almost think it’s a simple comparison to what it really is because with Alzheimer’s you get to live a full life, you can do all the things, all the important details, all the memories you have and then you decline,” Kyle Kempf said. “It’s so sad, but man, they can’t build those memories and they can’t lose them. It’s the greatest artist and the greatest crowd. It’s nice to know that they never realize what’s going on, but we’re fighting for the future where they can.”
The community joins the fight
In conjunction with “Sanfilippo World Awareness Day” on Nov. 16, local businesses are raising money to help support the Kempf family. Follow the Kempf family on social media for opportunities to help support the cause.
Follow Poppy and Oliver’s journey
Instagram: @poppyandoliverkempf
Facebook: @poppyandoliverkempf
TikTok: @curepopyandoliver
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