15th May is MPS Awareness Day!

Chase The Signs

Join us in raising
#MPSAwareness

purple-strip

Help us to increase suspicion of MPS by increasing awareness of the signs and symptoms of the disease. Follow your suspicions and help doctors and families reach a diagnosis as quickly as possible.

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. Diagnoses of MPS diseases are 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. 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 diagnosis. It is often the combination of MPS symptoms that 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 chase the underlying signs of MPS, to arrive at a diagnosis as early as possible and to provide support to those affected.

The Mps Diseases
The Mps Diseases

This year
we invite you to#ChaseTheSigns

MPS conditions can affect nearly every organ in the body. 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.
  • Knowing the signs and symptoms can help identify and diagnose individuals living with MPS II.
  • MPS II symptoms can often be thought of as common childhood complaints, until an underlying syndrome is suspected.
  • It is often a combination of common symptoms in rare clusters that point HCPs to an MPS II diagnosis.

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

What are theMPS diseases?

People with MPS diseases lack an enzyme in their lysosomes that 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 only the mother can be a carrier – as a result, male relatives on the mother’s side of the family may also have MPS II.

This year we invite you to #ChaseTheSigns

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, he had constant ear infections and finger stiffness. Having repeat ear infections could be considered normal for a child this age 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 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. Arian had several MPS II symptoms, but looking at the symptoms individually it was hard to know that it was MPS II causing them. The sign that it was MPS II was the fact that they were happening all together. 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

Early and/or common signs and symptoms of MPS II:

Key symptoms Key symptoms

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 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 that signal an MPS diagnosis. MPS II is also hard to recognize, because the number and type of symptoms vary significantly from patient to patient.

This is why we need to
raise #MPSAwareness
and Chase The Signs

MEET OUR MPS II FAMILIES

Please share this page on your social media with the hash tags #ChaseTheSigns #MPSDay and #MPSAwareness and help raise awareness of the MPS diseases and their symptoms.

Please talk to your Doctor if you suspect Hunter syndrome.

For more information on Hunter syndrome (MPS II) visit our main site: Hunterpatients.com

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