We understanding the devastation that Sanfilippo syndrome can cause, it has been in the family before, my husband’s brother was told many years ago that he had the disorder.  We were very cautious during the pregnancy and have asked doctors about Sanfilippo but were told not to worry as the chances were very small. Once Matilda was born we took measures and got additional screening to ensure we had nothing to worry about.  A urine test was sent in when Matilda was eight weeks old and after being alarmed of abnormal results we were told to come in for additional tests. Once the results came back we were heartbroken when she was officially diagnosed with Sanfilippo Syndrome at twelve weeks of age.

Although Matilda may show no signs or symptoms at this stage of her life, Sanfilippo syndrome is a progressive disorder and symptoms will become apparent as she grows.  Unfortunately, for many carriers of Sanfilippo syndrome the life expectancy is fifteen years of age and most likely many will not reach adulthood.  It attacks the central nervous system due to enzyme deficiency which prevents the body from successfully breaking down material for cells to reuse.  Cells eventually fill up with waste and the brain becomes progressively damaged causing a decline in health.

Help support Matilda

Currently there is no treatment or cure for Sanfilippo Syndrome but that doesn’t mean there is no hope.  There are people all over the world trying to find a cure for this devastating disorder but without the funding there we won’t be able to get there.  Children like Matilda will not live to adulthood; you can help save children like Matilda by donating to Hope for Matilda to raise much needed funds for research into this devastating condition known as Sanfilippo Syndrome.

Online Donation

You can help make a difference by donating online to help support Matilda and find treatment for this condition. Making a contribution online is fast, easy and safe and every contribution not matter how little makes a big difference. Donations over $2 are tax deductible, so click on Donate to make a donation.

Moving Closer to Better Health Facilities

It is extremely important for us to relocate closer to a metropolitan area with the essential health facilities that can help look after Matilda as she grows. Symptoms of this condition are progressive so any changes in behaviour may not be immediately noticeable. Therefore, it is important to consider moving to an area with adequate health facilities that can provide the proper care for carriers. Migrating interstate may be required and vehicle transport should be considered as children diagnoised with Sanfilippo Type A are encouraged to take short trips when travelling, so flying is recommended.

What is Sanfilippo syndrome?

Sanfilippo syndrome is an uncommon genetic disorder that causes serious damage to the brain and in most cases is fatal.  In fact, children who carry the disease are born with the medical condition and due to the rare insight of the illness, there is currently no cure, not enough research and many of the children carrying this genetic condition are most likely never going to survive beyond 15 years of age.

An Inherited condition

Sanfilippo syndrome (mucopolysaccaridosis type III; MPS III) is an inherited condition and known to be a clinical disorder and involves 4 different genes giving same characteristics.  Genes are made up of coded sequences which are needed to tell a cell how to make protein for a particular function.  All four genes are part of the lysosome, where it contains enzymes that a capable of breaking down and recycling many biological polymers. These complex materials are broken down and reused in the cell, when a part is missing in the four genes, the lysosome can’t break down the material and it builds up in the cell.  This makes it difficult for the cell to perform its function, causing the cell to malfunction and becomes what is known as a storage disorder because of this incomplete process.

The malfunction in cells eventually impact the central nervous system in the body, as the body is unable to go through the recycling process, it causes a build-up of biological waste that the cells cannot use, therefore brain cells over time are inundated with waste material.  As the brain gets damaged over the years, the health of children slowly deteriorate, they begin to experience loss of speech and cognitive skills, hyperactivity and loss of sleep, mental retardation, seizures, cardiac issues and slowly require assistance with mobility. In addition, dementia is common followed by death typically before reaching adulthood.

No cure or treatment is currently available to those diagnosed with Sanfilippo syndrome, more research is required in order to find possible treatments and a cure for people suffering from this debilitating disease.