This spring, we received news that is a parent’s worst nightmare. Doctors told us that not one, but TWO of our children have a terminal illness. We thought surely there must be some mistake! But after numerous trips to specialists and many blood draws later, our worst fears were confirmed – SANFILIPPO SYNDROME or MPS III Type A (the worst type) – a rare genetic disorder that is a ravaging, neurologically degenerative disease. Imagine our devastation! In a single, short pronouncement, two of our precious children, Anna, 6, and Gabe, 10, were given a death sentence. How could this be? We already have an adult child who was born with severe Cerebral Palsy and requires full-time care. We already have lost and buried an infant son. And now this. Mildly put, it was an unbelievable blow.
It took us months of anguish just to write the above two paragraphs. Putting our children's unbearable situation in writing and requesting friends' and strangers' help makes it all feel so final. But that is what we are doing now. We are humbly requesting your help.
There is currently no approved treatment and no cure for SANFILIPPO SYNDROME. Why? The FDA does not generally grant approval to conduct trials on children -- trials must be conducted on adults first. Sanfilippo children typically do not reach adulthood, so there are no adult trials. And therein lies the dilemma. The doctors told us to take our two adorable children home and we would be offered “palliative” care (care designed to help alleviate their suffering) when their time comes. This was unacceptable to us.
THERE IS HOPE
Researchers are working actively to find a cure, and an upcoming gene trial at Nationwide Children’s Hospital in Columbus, Ohio, shows promise. Our children may not be chosen for this study simply because of their advanced age. Most children with Sanfilippo Syndrome die before the reach their mid-teens. Our son, Gabriel, is already 11 years old, and Anna will soon be 7. They were much older than other children before they were diagnosed because they have an “attenuated” form of the disease which means that the disease progresses more slowly.
WHY WE NEED YOUR HELP
Help and treatments are available that slow the progression of the disease. The problem is, these treatments are expensive, and with no FDA approval, our insurance will not pay for any of them. Because Sanfilippo is such a rare disease, big pharmaceutical companies are simply not interested in sponsoring these trials because there is not enough money to be made. These trials, like the upcoming gene trial in Columbus Ohio, are being funded primarily by grass root efforts born out of the desperation and ingenuity of parents of Sanfilippo children. We are raising funds so that our children CAN get treatment – treatment that could keep them alive while they are waiting for a cure. Any funds raised beyond what our children need for treatment would be contributed to the trials that ARE seeking a cure. We are asking for your help. We are asking for a chance. There are miracles every day. Cures are discovered. Children get better when they weren’t expected to. We need your help to give them their miracle. Will you help?
WHAT IS SANFILIPPO SYNDROME?
Gabe and Anna have a rare gene mutation and lack the ability to make an enzyme responsible for breaking down long chain sugar molecules in the body. Over time, this inability to remove cellular waste creates toxins in the brain and body. Their brains and organs begin to deteriorate.
If left to run its course, this devastating disease will cause Gabe and Anna, two very active, smart, adorable children, to endure much pain and frustration. First, they will lose their ability to talk. Then their joints will become stiff and painful, and they will lose their ability to walk. Next, they will lose their ability to swallow and will have to be tube fed. After that, they will lose their ability to breathe, and somewhere along the way, they will suffer from terrible seizures, and ultimately, will die a horrific, agonizing death.
Our children are in Stage Two of the disease. Anna has night terrors – her nights are oftentimes sleepless. Both Gabe and Anna are experiencing frustration and behavioral problems resulting from the toxins building in their brain, and both have experienced some cognitive decline are starting to experience more cognitive decline as this Stage progresses.
Anna is a beautiful, blonde haired, blue-eyed girl who loves princesses, rainbows, unicorns and all things girly, and as her preschool teacher put it, is the most compassionate child you’ve ever met. Gabriel, who is lovingly called Gabe Boy, is a big, stocky, ”bull in a china shop” boy with brown hair and blue eyes who always has a smile for everyone and more than anything wants to please. His teachers tell us how much they love him. He loves superheroes and video games, and has an obsession for riding elevators.
You may be wondering about our other children: Zachary, 24, the oldest, has severe Cerebral Palsy from birth. Forrest, 19, is on a mission spreading the Gospel of Jesus Christ and doing service work for others. Twins Max and Maddie are almost 3 years old.
All four of Gabe and Anna’s siblings are carriers, which mean their children could risk having Sanfilippo. A cure must be found and we believe it is close.
It's extremely difficult to see our young twins watch Gabe and Anna deteriorate. Just yesterday, Maddie told me, “Anna won’t get any sicker” – out of the mouth of a 2 year old. It almost broke my heart, and I fought back tears as I told Maddie that we would do everything in our power to keep them from getting any sicker.
WILL YOU HELP US?
We will not stop. We will not let our children be defeated without trying. Simply stated, we will not stand by and watch them die. We will try. We will fight. Can we count on you for support?
We would be so very humbled and grateful for any support you can give, even if all you are able to do is pass this along on your email list, Facebook page or other social networking sites. Please share our plea for help. We can sustain our children long enough to find a cure with your help.
Won’t you please consider donating? Won't you please help Gabe and Anna have a fighting chance against this devastating illness?
A sincere Thank You from the bottoms of all our hearts,
The Bernhardt Family – Justina, Lance, Zachary, Forrest, Gabriel, Paxton, Anna, Max and Maddie
Donations can also be made directly to:
Harborlight Credit Union
Routing number: 272485990
Account name: The Bernhardt Family Children's Medical Fund
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