Learn About Sanfilippo Syndrome:

What is Sanfilippo Syndrome?

Sanfilippo Syndrome {also known as MPS III} is an inherited and fatal disease caused by a single gene defect where the individual is not able to make the proper enzyme needed to metabolize long chains of sugar molecules also known as mucopolysaccharides/glycosaminoglycans. 

A normal person’s body can break these molecules down after it is done using them and will dispose of the waste on its own.  Children with Sanfilippo cannot do this as they lack the proper enzymes needed to break them down.  Due to this, their bodies store these molecules in the cells causing build up, waste, and progressive deterioration.

When two people who are carriers have kids they have a 1 out of 70,000 chance of having a child who will have Sanfilippo syndrome.  That means basically that if they have 4 children, one child out of those 4 will have it.  

What's even more shocking that that 1 out of every 133 people walking around are carriers for this disease and do not even know it unless they know Sanfilippo syndrome runs in their family. 

What does this mean for Carter and other children with Sanfilippo?

Unfortunately, symptoms do not start showing until the child is around 2-6 years old.  Sanfilippo children may have speech delays, hyperactivity, sleep disturbances, and behavioral issues to name a few. Many times these children are misdiagnosed with having autism.  

Around five years old, many MPS III children will start to lose their speech and language.  They will then start to lose those major milestones that they have already established i.e, eating on their own, potty training, being mobile, walking, and so on.  Many children develop seizures and very painful movement disorders. Ultimately, Carter’s body will shut down and our sweet, loving, funny, vivacious little boy will be taken from us.  On average, life expectancy is in the early to mid-teens.

Are there different types? 

There are currently four different types of Sanfilippo syndrome/MPS III.  Type A, B, C, and D.  Although all types are similar, they each have a different enzyme deficiency.  There is wide variation on how this disease affects each child and runs its course so there is really no way to tell what will come or go next.  Carter has MPS IIIA which means that he is deficient in the enzyme Heparin N-sulfatase. Type A is the most common and considered to be the most severe type with a shorter life expectancy than others.  

Is there a cure?

No, not at this time.  However, there are several ongoing trials and therapies such as enzyme replacement therapy that are currently underway.  
This past May of 2016 was the mark of a new type of gene therapy MPSIIIA (Sanfilippo Syndrome) trial as the first patient was dosed, with more children to follow. The trial is a single experimental intravenous injection and is aimed to treat the body as well as the central nervous system.  In the research mouse models, this treatment cleared the storage built up in the bodies and brain and eradicated the disease.  This is HUGE news for the Sanfilippo community!  If this works in children, they will have hopefully found a cure for MPS IIIA, and will be a step closer to finding cures for other types of Sanfilippo Syndrome and other rare diseases.  The challenge remains that only a handful of children will be able to be part of these clinical trials over the next 12 months.  Since the disease is rapidly degenerative, these children CANNOT wait.  We need to fund more clinical trials and treatment options so that children today are not left behind to die- that is the harsh reality.  Cure Sanfilippo Foundation is working nonstop to identify and fund the research and treatments to give more children a chance at life.

Is there anything we can do to help?

We have teamed up with the Cure Sanfilippo Foundation.  This is a non-profit organization founded by Glenn and Cara O’Neil.  They are parents of a little girl named Eliza who has type MPS IIIA.  They have done astonishing things over the past few years for the Sanfilippo community and we felt like this was a perfect fit for Carter and our family. To find out more about this amazing family, please like and follow  Eliza's Story on Facebook or click on their links below.

Eliza's Facebook