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MAY 15TH IS MPS AWARENESS DAY!
NOW IS THE TIME TO #CHASETHESIGNS OF MPS

CHASE

THE SIGNS

Join us in raising

#MPSAwareness

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THE

MPS DISEASES

The MucoPolySaccharidosis (MPS) diseases are rare genetic disorders present from birth, but newborns may show no symptoms of the disease. The symptoms of MPS diseases often appear in early childhood and worsen over time, leading to possible organ failure and reduced life expectancy. Diagnosis of MPS diseases is often delayed because there is no specific checklist of MPS symptoms to go by – instead, the symptoms and severity of the MPSs are variable and can differ from patient to patient, and the MPS diseases cause a wide range of symptoms that may affect many different parts of the body, including the airways, ears, hernia, facial features, skeleton and joints, eyes, liver, heart and, in some cases, the brain. With the symptoms of a disease, such as MPS, being so broad, many families find themselves chasing the signs of MPS in order to achieve a diagnosis. It is often the combination of MPS symptoms which signals to a diagnosis of an MPS disease.

By raising awareness of the possible combinations of symptoms of MPS diseases, we can help parents and doctors #ChaseTheSigns of MPS underlying the symptoms seen, to arrive at a diagnosis as early as possible and to provide support to those affected.

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THIS YEAR

WE INVITE YOU TO

#CHASETHESIGNS

  • There are 7 types of MPS. It is estimated that 1 in every 25,000 infants born will have an MPS disorder. MPS II, or Hunter syndrome, impacts 1 in every 162,000 infants born.
  • MPS conditions can affect nearly every organ in the body.
  • Knowing the signs and symptoms can help identify and diagnose individuals living with MPS.

By raising awareness on MPS Awareness Day, you can help individuals get access to the care and support systems that they need.

WHAT ARE THE

MPS DISEASES?

People with MPS diseases lack an enzyme in their lysosomes, which usually breaks down complex molecules, known as GAGs (glycosaminoglycans), into smaller parts to be recycled (lysosomes are small pockets within cells, which recycle molecules that the cell no longer needs). Without this enzyme, these GAGs accumulate in the cells of patients with MPS, which eventually build up and lead to organ damage and the related symptoms of MPS. The MPS diseases are a type of ‘lysosomal storage disease’. There are seven clinical types of MPS disease; one example is MPS II, which is also known as Hunter syndrome. All MPS diseases are genetic disorders, meaning they can be inherited from parents—parents are often ‘carriers’ of the disease, meaning they possess the MPS gene but do not show symptoms. MPS II is slightly different because it mainly affects boys (although a very small number of MPS II girls have been reported worldwide) and the mother is almost always the carrier—as a result, male relatives on the mother’s side of the family may also have MPS II.

DISCOVER OUR FAMILIES

WHAT TYPES OF

SYMPTOMS ARE SEEN

IN MPS DISEASES?

  • MPS I, II and VII have generally similar disease profiles that can include a wide range of symptoms, affecting many parts of the body, e.g., airways, ears, hernia, facial features, skeleton and joints, eyes, liver, heart, and, in some patients, the brain is affected.
  • MPS III is different because the brain is the main body organ that is affected.
  • MPS IV and VI are different because they don’t often affect the brain.
  • Only a handful of MPS IX cases have been documented; therefore, it is not possible to know the full disease profile. 

    Take Arian, for example, who has MPS type 2 (also known as MPS II or Hunter syndrome). By the time Arian was three years old, he had constant ear infections and finger stiffness. Having repeat ear infections could be considered normal for a child this age from mixing with other children in school. For the joint stiffness, he was referred to a physiotherapist. A check-up later revealed a heart murmur, and in the following referral, a heart valve problem was revealed. However, it wasn’t until referral to another doctor who noticed differences with his bones and skeleton that they began to suspect that MPS II was causing all his symptoms. You can read more of Arian’s story here. Arian had several MPS II symptoms, but looking at the symptoms individually, it was hard to know that MPS II was causing them. The key sign that it was MPS II was the fact that they were happening at the same time. Together we can help raise awareness of the symptoms of MPS diseases to help people like Arian’s family and doctors #ChaseTheSigns of MPS II.

KEY

SYMPTOMS

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Knowing the signs and symptoms of MPS diseases can markedly improve the identification, diagnosis and early management of individuals living with MPS. As we saw above with Arian’s story, many of the MPS II symptoms can go unnoticed as they resemble common childhood complaints, and it is often only a combination of MPS II symptoms which signals an MPS diagnosis. MPS II is also hard to recognise because the number and types of symptoms vary significantly from patient to patient.

PLEASE SHARE THIS PAGE TO YOUR SOCIAL MEDIA AND HELP RAISE AWARENESS OF THE MPS DISEASES AND THEIR SYMPTOMS.

 

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WHAT WE DO

OUR

EVENTS

Keep an eye on huntersyndrome.info/events

OUR

WEBSITE

For more information on MPS II (Hunter syndrome)

OUR

LOCATION

You can find us wherever you are! Visit the Rare2Aware website or social media 

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OUR

PEOPLE

You can learn more about those living with MPS II and their families with our patient stories. Click here to watch and listen more.

PATIENT STORIES

LET'S STAY CONNECTED!

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