According to a recent article, the family of a young boy from Australia who is diagnosed with the rare genetic disease mucopolysacchariodosis type 1 (MPS 1) is sharing his story to raise money for a Rare Diseases Center at Perth Children’s Hospital.

MPS 1 (Hurler Syndrome)

MPS I, also known as Hurler syndrome, is a rare metabolic disease in which a person cannot break down long chains of sugar molecules called mucopolysaccharides. These chains are present all over the body, particularly in mucus and in the fluid around the joints, so MPS I affects the entire body. There are four kinds of mucopolysaccharide diseases.

Click here to read about the different types of MPS I.

Cause:

MPS I is caused by an inadequate lysosomal alpha-L-iduronidase enzyme, which helps break down mucopolysaccharides. These molecules can thus build up and damage organs, causing the symptoms of MPS I.

The defective enzyme that causes MPS I is inherited in an autosomal recessive pattern.

Symptoms:

The age of onset for symptoms of Hurler syndrome is usually between three and eight years, and even infants who have severe MPS I can appear normal at birth. However, once the symptoms set in, they include:

• Abnormal spinal bones or curved spine
• Claw hands
  • i.e. short, broad hands with curving fingers
• Cloudy corneas
• Halted growth
• Heart valve problems
• Joint disease and joint stiffness, such as knock-knees and toe-walking
• Progressive intellectual disability
• Tick, coarse facial features with a low nasal bridge
• Deafness

Treatments:

MPS I can be treated using enzyme replacement therapy to add a working form of the defective alpha-L-iduronidase enzyme back to the body. The medicine to do this is called laronidase (Aldurazyme) and is given through an IV. This treatment has changed the outlook for many children who suffer from MPS I, as it can relieve most symptoms and slow the progress of the disease, although it doesn’t help treat any brain symptoms that arise.

In addition to this, bone marrow transplant (hematopoietic stem cell transplant) has been used in some people with MPS I, though the results show that this is most effective before two years of age and still cannot fix the bone or eye problems from the disease.

Other treatments for MPS I are symptomatic and supportive.

Sam McCormack’s Story

When Sam McCormack was born alongside his twin brother Brody, his family had no idea what their lives would entail. As Sam began to grow, his parents, Bibiana and Bernard McCormack, started to notice some differences in Sam’s growth. The most apparent symptom was that Sam had a severe curving of his spine, and this is what led his parents to take him to specialists. Sam saw a number of specialists, including physiotherapists and neurologists, but it was a blood test they had to wait six weeks for the results for that ultimately led to Sam’s diagnosis. At only 1-year-old, Sam McCormack was diagnosed with MPS 1, a rare genetic disease that means his life will be cut short. Most children who are diagnosed with this disease do not live longer than 10-years-old.

After Sam’s diagnosis, the entire family was devasted by the news. As parents, hearing your child has a rare disease that will likely cut their life short is overwhelming and surreal. Almost instantly Sam was attending multiple hospital appointments as doctors tried to stop potential damage to his brain. This required weekly enzyme infusions and two bone marrow transplants (one of which proved to be very traumatic). For the second transplant, the family was forced to move from their home to get Sam the care he needed. This move meant they were farther away from their families, and having to learn the ins and outs of a whole new hospital.

Sam is now four years old and is doing very well considering his diagnosis. He currently has above average levels of enzymes and is eager to learn new things. Despite his speech delay and spinal issues, he is still able to live a happy and fulfilling life alongside his family.

“My hope is that his life is full of happiness and that we can continue to give him the very best.” – Bibiana McCormack

Raising Money and Awareness

After being forced to move in order for their child to receive the care he needed, the McCormack’s saw a need for a rare disease center at the Perth Children’s Hospital. If this hospital had a specialized rare disease center when they were getting their son’s care, it would have meant the family would not have had to move away from all of their support systems and all that they knew.

The Perth Children’s Hospital Foundation decided to launch a funding commitment this year to fund the first-ever Clinical Centre of Expertise for Rare Diseases. This would aid in the care of children with rare diseases throughout WA. The center would spread awareness about rare diseases, help identify rare diseases in children earlier, and improve the amount of support available to the families of children with rare diseases.

If you would like to make a donation to help fund this rare disease center, click here.