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What if you were told your young child was dying? What if you were then told a medication to stop the disease’s progression existed, but there wasn’t enough funding to produce it? These “what if’s” are the nightmare-ish reality of all families whose children have been diagnosed with Sanfilippo Syndrome and their lives are devastated!

What If You Were Told, "Your Child Is Dying. There Is A Cure, But There Is Not Enough Funding." — Abigail Means is a face of Sanfilippo Syndrome. With your help, we can save her! (Image owned by the Means family and used with permission)

I know Abigail as the sweetest little 4 year old, with the most amazing red curly hair. Her parents, Jen and Mike Means, know her as their long awaited answer to prayers. Jen and Mike struggled through infertility for 8 long years. In December of 2010, their prayers were answered when the smiling face above, Abigail Sarai, made her debut into this world at 34 weeks gestation.

“We dreamed, we prayed, and we yearned… for eight years. Overjoyed doesn’t even touch the way I felt when the doctors told me I would finally have a child of my own to hold, to love. My amazing Abigail came into this world in December of 2010, and after a full 8 years of trying and 34 weeks of pregnancy, I couldn’t believe she was actually here.“ Abigail’s mother, Jen Means

On her blog, Fight For Abigail, Jen talks about the pre-diagnosis years, “To our delight, Abigail hit every required milestone for the first year. Other than a little colic and some long nights, she was perfect! Our sweet gift from God was nothing but giggles and smiles as she grew. For three years, everything was pure joy.”

A few months ago, that all began to change. Abigail’s parents started noticing changes in her. The first was Abigail’s hearing test failure at a routine 4 year old doctor’s visit. Abigail had been tested at birth and had never shown any signs of hearing loss. As the confused parents sought further testing, they began to notice that slowly, Abigail was forgetting things. Things she once knew like her colors and numbers. Bewildered and concerned, they continued the seemingly endless testing and consultations in search of an answer.

“Still, they couldn’t figure out what was wrong. There was just one more routine visit left: The Genetic Doctor. I almost didn’t go… It was just going to be another doctor to rule things out. This was the doctor visit that would drive me to the depths of despair. I had seen that look in doctors’ eyes before — I couldn’t forget it. The look on their face when they’re holding on to information they almost can’t bear to share with you.” Fight For Abigail Blog

It was at this final consult with the the geneticist , that Jen and MIke were handed the devastating news….Abigail has Sanfillippo Syndrome- Type A. Sanfillippo Syndrome, also known as MPSIII (mucopolysaccharidoses disorder), has a 100% mortality rate..

“…that was the beginning of a nightmarish journey that has changed my life forever.” – Fight For Abigail Blog
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Sanfillippo Syndrome is a genetic disorder occurring in only 1 in every 70,000 births. For a child to have Sanfillippo Syndrome, both parents must be carriers of the disease. Children with Sanfillippo disease have a metabolism dysfunction and are unable to break down used sugar molecules as those without the disease are. These molecules build up over time causing a slow regression to death.

According to the Cure Sanfilippo Foundation, “Children with Sanfilippo Syndrome typically do not show signs of this devastating disease until 2-6 years of age. The disease is working on them from the time of conception. However, it takes time for the body and brain to accumulate enough waste material to begin to cause symptoms like hyperactivity, speech delay, autism, recurrent ear/sinus infections. Children then begin to lose the skills they used to have- talking, walking, eating. Most children develop seizures and painful movement disorders before they pass away. Typical life expectancy for the most rapidly progressive form of Sanfilippo Syndrome (Type A) is in the mid-teens.”

: There was a 25% chance Abigail’s 9 month old sister, Sadie, also had the disease. Thankfully, she does not. (Image owned by The Means family and used with permission)

.A cure for Sanfillippo Syndrome is real. A gene therapy treatment stopping the disease in mice has been discovered. Researchers believe this will offer a cure. Stopping the progression is huge when dealing with a disease like Sanfilippo! However, as exciting as this is, it is unable to save children if it isn’t produced. With Sanfilippo affecting only 1 in 70,000 children, pharmaceutical companies are not committed to a treatment for it. The funding is simply not there to manufacture it.

” We don’t know if the treatment can repair any damage already done, but we certainly have HOPE that it will stop the disease. This is a first in human trial so much more will be known when the treatment is actually administered in children. That is why we are in a race against time.” Glenn O’Neill, President and Founder of the Cure Sanfillippo Foundation.

The disease is building in these children every second! As for Abigail, her mom shares, “Abigail has good days and bad days. It is very sad for me to watch her regress. She forgets what she once loved. She gets confused and that breaks my heart. I keep praying that God will heal her, but I know He has a plan.” The progression of this disease is painful. Abigail will mentally and physically regress until death unless the cure is manufactured in time for her.

Will you help save these children? The race is on to to raise $2.5 million to fund a clinical trial for the treatment. If you are unable to give financially, please share this story. Talk about Sanfilippo and spread the word.

YOU CAN MAKE A DIFFERENCE!

You can donate directly to the Sanfilippo cure through the Cure Sanfilippo Foundation website. In addition to raising money for the cure, Jen longs to not have to work and be able spend every second possible with Abigail. If you feel led, you can donate here.