Carter's Challenge

He loves swimming, running around, and playing tag with his big sister Sophia. He enjoys trips to the park, beach, and Disneyland. When it’s his turn to pick a show he’ll usually request one of his favorites like paw patrol and octonauts. His favorite animals are sharks, seals, and pretty much any sea creature. When you see Carter, you would not think that everyday he is a day closer to loosing valuable developmental skills he has already acquired. It would never cross your mind that this little boy’s life is in jeopardy everyday. Sadly, that is the case for him and many other children. Carter has Sanfilippo Syndrome {also known as MPS III}. If we do not find a cure for this horrific disease soon many children including our sweet little boy will be taken from us far too soon. Sanfilippo syndrome is an inherited and fatal disease caused by a single gene defect. Children with it do not make the proper enzyme needed to metabolize long chains of sugar molecules {mucopolysaccharides/glycosaminoglycans}. Due to this, their bodies store these molecules in the cells causing build up, waste, and progressive deterioration. Carter has Sanfilippo Syndrome type A {MPS IIIA}. There are four different types of Sanfilippo syndrome… Type A, B, C, and D. Out of the four types, type A is the most common and considered to be the most severe with a shorter life expectancy than others. To find out more about Sanfilippo Syndrome, please visit:
curesff.org or mpssocity.org

WAYS TO HELP:

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Carter’s Challenge gear available for purchase!!! These items will be benefitting Carter’s Challenge and the CureSanfilippo Foundation. Proceeds go toward research for upcoming and ongoing clinical trials and future Carter’s Challenge events to raise awareness and funds for Sanfilippo Syndrome. DONATE
Credit card donations are accepted at www.curesff.org
*If you would like to donate in Carter’s honor, please make sure you write “Carter or Carter’s Challenge” when asked. Donations can also be made by check* and mailed to:
Cure Sanfilippo Foundation
PO Box 6901
Columbia, SC 29260
*If donating by check, please write “Carter’s Challenge” on the memo line.

**All donations go directly to Cure Sanfilippo Foundation (Tax ID: 46-4322131), a non-profit 501c3 organization and will be used to fund urgent research needs for Sanfilippo Syndrome. All donations are tax deductible.**

Contact Information:
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Carter’s Timeline:

On February 2, 2014, when Carter was just shy of two, we brought him in for a fever and vomiting. He had been to the doctor a couple of times in the past month because he would wake up in the middle of the night screaming in pain and had a sinus infection that would just not go away. We were always told it was a cold or "growing pains" or that it’s cold and flu season not to worry and sent home. This day was no different…they chalked it up to the stomach flu and sent us on our way. On Friday, February 7th after some blood work and an x-ray, they doctors decided to admit him and send us down to our hospital. After 14 days, numerous blood work draws, ultra sounds, a CT scan and an MRI he was diagnosed with having chronic pancreatitis. Since being diagnosed we found out that Carter has a genetic mutation on his CTRC gene which causes him to have chronic pancreatitis. There is little to no research on how to treat this specific issue which makes his case extremely rare and difficult to treat. Carter had a central line in place and was receiving TPN and Lipids (liquid nutrition ran though his central line on a portable pump at night) as his main form of nutrition from February 2014-March 2015. December 2014: Carter Has his first ERCP {endoscopic retrograde cholangiopancreatography}procedure . This procedure is when they take a small camera and use it to go through his mouth down to his GI track. They placed a couple of stents in and removed them in early 2015. The procedure was successful and we believe the reason Carter could start eating again. May 2015: Carter had an episode of vomiting blood. We took him in to find out he had a mallory weiss tear. November 2015: Carter’s MRI results came back they did not look promising. His pancreas was enlarged along with his spleen, gallbladder, and liver as well. This was shocking to us as he had been doing extremely well and had no hiccups or pain episodes. His GI doctor said he was not sure when it would come to the surface but it would be sometime soon and to be prepared. December 2015: Carter’s GI doctor was right and all of his pancreas issues came in. He was in the hospitals on and off for a total of 27 days. This was due to a a flair up with his pancreatitis and uncontrollable pain. Carter had his first PICC line placed and was placed back on TPN and Lipids as his only form of nutrition. He had the is third ERCP and second round of stents placed. January 2015 - February 2015: We as a family spent new years in the hospital. Lucky, we wear able to go home a couple of days later. Carter was sent home on TPN. C would have a couple of other ERCP’s and stents placed. On lucky number four, our doctor was FINALLY able to get the stents in the duct we have been trying to get to since the first one. March 2016: After things slowed down for a bit, we went in to see our geneticist. He believed the results from the urine test for L*D {Lysosomal storage diseases} were negative but said we could request a genome to make sure as carter already had a genetic mutation {His CTRC gene}. Carter, myself, and my husband all got our genome test done. We requested this as we wanted to make sure Carter was a good candidate for a possible transplant if he absolutely needed it. This was not our first choice but it was better to be safe. They told us to wait for the results and they should be in touch with us around late June or early July. May 2016: On our way back from a trip to Disney world, our genetics called to inform us that Carter had Sanfilippo Syndrome/MPS III. We set up a genetic counseling appointment to discuss the results for early June. June 2016: At our genetic counseling appointment we find out Carter has MPS IIIA. Out of the four types of Sanfilippo syndrome this is considered to be the most common and have the shortest life expectancy. Many of our questions are answered to the best of our geneticists ability sadly thought with this disease, there are a lot of we are not sure and I don’t know because there is such a wide variation on how it affects each child.