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3 Belmont sisters battle rare, fatal genetic disease

Sisters Battle Rare, Fatal Genetic Disease Found in 100 People Worldwide

BELMONT, Mass. -- For Belmont parents Paul and Nancy Burke, the worrying never stops.

WCVB reports: "It's a constant stress," said Paul Burke.

"They have vision problems, orthopedic problems, heart problems," said Nancy Burke about their three daughters.

The love and support they experience everyday doesn't stop either.

"(Our daughters) get up every single day with a smile on their face, even though each day is so challenging for them, how can we not get up with a smile on our faces," said Nancy Burke. "How can we not just enjoy every moment that we have?"

It all started when the oldest of their three girls, Jillian, started having trouble in school at 6 years old.

"Everything was absolutely fine prior to that. She met all of her milestones along the way. We really had no health issues," said Nancy Burke.

But Jillian's health kept getting worse, and it would be another three years before the Burkes were finally told why.

Jillian had Sanfilippo Syndrome Type C, the rarest form of an already rare, genetic disease that destroys a person's central nervous system. Researchers estimate just 100 people worldwide have Type C, and the Burkes soon found out daughters, Lindsay and Kelsey, did too.

"This is really one of the most terrible diseases that exist," said Dr. Gerry Berry, director of the Metabolism Program at Boston Children's Hospital. "Material accumulates in the body in the brain, unfortunately ... but it also causes some other abnormalities, such as coarse facial features and sometimes bone disease."

With no cure and no treatments, the Burkes were told all they could do was take the girls home and love them.

"At that time, they told us the average life expectancy was 14," said Nancy Burke. "You're so shocked, and your heart is, like, ripped out of you that you just go numb ... But then, you can't give into it or wallow in it because you have a family to take care of."

Over the years, the Burkes have had to watch the children they once knew slip away.

"They played basketball, soccer. They rode horses ... They did everything. They were just regular kids," said Paul Burke.

"We got to know them. We got to know the people that we thought that they were going to be," said Nancy Burke.

Jillian was their happy, little sunshine. Lindsay was sweet and curious. Kelsey was known as the spitfire of the family.

Fast forward to today, and all three have cognitive impairments, trouble communicating, and balance issues. Lindsay has a feeding tube. But despite it all, their sweet spirit and strength still shine through. All three girls, now in their 20s, are beating the odds.

"We still believe that something can be done," said Nancy Burke. "That they can have a future, that things can be reversed."

"I don't know if it's too late for them, but maybe some other parent wouldn't have to go through this," said Paul Burke.

Sanfilippo is an orphan disease, meaning there aren't any pharmaceutical companies working on treatments, and neither is the government. So the Burkes are pounding the pavement themselves, working hard to raise awareness and money for research that could save their girls' lives.

To find out how you can help, visit http://www.gofundme.com/9rc24s or http://www.jlksanfilippofoundation.com.

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Join the discussion

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IBruzEZ July 12 2014 at 7:50 AM

Prayers for all the families who suffer these heartbreaks and losses.

Flag Reply +8 rate up
alfredschrader July 12 2014 at 7:15 AM

On the next page is a story about autism which is on the rise but no comment section.
I believe these things are linked to some commonly used drug or product.
For example, males that use Resperdal become females.
This would explain the huge increase in the numbers of people "coming out".
I suspect some commonly used drug or product is having the same effect as resperdal causing a myriad of maladies.

Flag Reply +4 rate up
10 replies
debnaert July 12 2014 at 10:33 AM

Frankly I don't know how these parents have survived all 20 years everyday.... that kind of care is exhausting. I feel for the girls... they will never have a normal life. I hope people will stand up and shout to the medical field to PLEASE start researching this terrible disease. THREE ANGELS.

Flag Reply +4 rate up
sylvabugg2 July 12 2014 at 10:18 AM

It's really a shame, but if more people had this disease, they would be researching for a cure. Unfortunately, since it's so rare, there's not money to be made from this condition so nothing will be done. That's what it's all about now, money, not helping people.

Flag Reply +3 rate up
fhjiii July 12 2014 at 12:33 PM

This doesn't have to happen anymore. This disease like many other autosomal recessive conditions can be avoided by simple genetic testing. Both parents must have this defect which is hidden by a dominant gene. One out of every four children with both parents being a carrier will come down and die from these types of disease. If only one parent can be shown not to be a carrier of a defect then their children will not suffer from the disease. Potential parents should get genetic testing done so that they may know in advance what may happen and they can chouse the risks that they may take.

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2 replies
Mel fhjiii July 12 2014 at 2:12 PM

I agree with you. Ataxia runs in my husband's family, so before we chose to start a family, we were both genetically tested for the presence of the gene. We learned that although HE was a carrier, I was not. And since BOTH parents need to be carriers for the defect to be passed on to children, we knew we were good to go.

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Luana fhjiii July 12 2014 at 6:21 PM

I am not sure they said it was autosomal recessive disease. Also not sure if this disease would be one that you would normally test for unless you knew it was in the family. This family had already had all 3 girls before the first one was diagnosised I believe. There are so many potential genetic diseases (some very rare like this one) that you can not test for them all and many do not even have tests.

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1 reply
gramargo Luana July 12 2014 at 7:28 PM

With a disease as rare as this, would there even be a reliable test for parents to take before they had children? There are hundreds of other rare diseases, and there's no way to check for all of them.
I am very grateful that all my children avoided genetic diseases, and it seems so have my grandchildren. I don't know how this couple keeps sane, and I am so sorry they have to go through this, knowing what may lie ahead for their daughters as they themselves get older and may not be able to care for the girls.

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LENWELL July 12 2014 at 10:05 AM

How guilty this makes one feel who has whined about the difficulties of dealing with childhood diseases like measles or chicken pox etc.

Flag Reply +3 rate up
oujoou July 12 2014 at 5:58 AM

They look great. :) Sometimes you need a little distance to see how lucky you are. 3 daughters like that. What's not to love? Cute too. :)

Flag Reply +2 rate up
4 replies
ngcolby July 12 2014 at 8:32 AM

why did this happen to all three kids of this couple? You have great kids and big hearts, continue the fight and investigation of this disease.

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1 reply
savannahswithgod ngcolby July 12 2014 at 10:34 AM

Why the Creator, now maybe he will toss the cure. Answer is if I got a cure for something and it is making big bucks just treating it and not curing it who wants a cure?

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1 reply
onemadashell savannahswithgod July 12 2014 at 3:27 PM

who is this creator you speak of?

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kale0 July 12 2014 at 11:03 AM

What beautiful girls. So sad for this family that they have to go through this!

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Joshua Finney July 12 2014 at 3:54 PM

We send all this money across the ocean to help with rebuilding a country that hates us why can't we keep that money here to fund research for for these diseases. I for one think we need to take care of our own before we take care of the rest of the world.

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1 reply
CAMERON Joshua Finney July 13 2014 at 9:11 PM

So very true.

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