When Sophia Scott was growing up, her parents noticed that she was displaying a variety of different potentially concerning traits. They began undergoing some tests. Eventually, just one day before Sophia turned four years old, she was diagnosed with mucopolysaccharidosis type III, also known as MPS III or Sanfilippo syndrome. According to STV News, the family was taken aback. After all, Sanfilippo syndrome has no cure. How could they best advocate for and support their daughter?
Seven years have passed since Sophia’s diagnosis; to her family, she remains a vivacious and much loved princess. However, the Scott family also found that the best way to advocate for their daughter was to help raise awareness. They do so through participating in the #ChaseTheSigns campaign through the MPS Society UK. As explained by the MPS Society UK:
There are a plethora of symptoms that someone with MPS can have and we are going to highlight what some of those are. Please get involved and help #ChaseTheSigns.
There are multiple different types of MPS (MPS type I, MPS type II, MPS type IV), as well as multiple different subtypes. Later in this article, you can learn more about the symptoms and characteristics associated with MPS type III. However, we encourage you to also do some research to learn about the different ways MPS might present.
Altogether, the Scott family hopes that continuing to raise awareness will allow other families to pursue an earlier diagnosis for their children.
About MPS III (Sanfilippo Syndrome)
Mucopolysaccharidosis type III (MPS III / Sanfilippo syndrome) is a rare genetic condition. It is inherited in an autosomal recessive pattern, meaning patients must inherit one defective gene from each parent. Altogether, there are four main forms of Sanfilippo syndrome: types A, B, C, and D. In each case, the gene mutation causes the body to be deficient in an enzyme which breaks down long chains of sugar molecules called heparen sulfate. As these sugars accumulate, they cause central nervous system (CNS) damage. Typically, symptoms associated with Sanfilippo syndrome manifest within the first year of birth. Learning abilities then slow considerably between ages 2-6. Symptoms can include:
- Diarrhea
- Full lips
- “Coarse” facial features
- Behavioral problems, such as hyperactivity or irritability
- Stiff joints that may not extend fully
- Excess hair growth
- Sleep difficulties
- Developmental delays
- A wobbly and erratic walk
- Speech delays
- Slightly enlarged spleen and/or liver
