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MPS Awareness Day aims to raise awareness of a group of seven rare genetic diseases, and recognize the amazing community of MPS patients, caregivers, and

#MPSAWARE

Speakers sponsored by Takeda.

BE #MPSAWARE this year

It is estimated that 1 in every 25,000 infants born will have an MPS disorder.

MPS conditions can affect nearly every organ in the body.

Knowing the signs and symptoms can help a healthcare provider identify and diagnose individuals living with MPS.

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

How to get involved

For MPS Awareness Day 2019 we have gathered MPS specialists, along with patients and families to act as specialists and to help spread knowledge about the MPS diseases. Please show your support by sharing the campaign via:

Don’t forget to use the #MPSAware and #FlyForMPS hashtag!

ABOUT THE MPS DISEASES

People with MPS diseases lack an enzyme normally responsible for the breakdown of complex molecules, known as GAGs (glycosaminoglycans). Without this enzyme, these GAGs accumulate in pockets of cells, known as lysosomes, and eventually build up, which can lead to organ damage.

There are seven types of MPS, based on a lack or deficiency in one or more of eleven specific enzymes found within the lysosomes of patients. All MPS diseases are genetic and progressive, meaning that diseases can be inherited and are present from birth, with symptoms worsening over time. However, the symptoms are often hard to identify in newborns, and become more apparent as the child grows older.

The symptoms and severity of each disease are highly variable and can differ significantly from patient to patient.

What is MPS (Hurler, Hurler–Scheie, and Scheie Syndromes)?

MPS I can initially present in a range of ways, with varying degrees of severity. Patients with the most severe form (named Hurler syndrome) typically display symptoms which rapidly progress after birth. The Hurler subtype has an estimated incidence of approximately 1 in 100,000 live births worldwide.

Patients may lie on the other end of the spectrum with the milder form of MPS I, known as Scheie syndrome. Some patients may have an intermediate condition named Hurler–Scheie syndrome, which lies in the middle of the MPS I spectrum of severity.

What are the symptoms of MPS ?

The major symptom of the Hurler form of MPS I is cognitive impairment, often noticed as a delay in speech development. Serious physical symptoms, such as heart, lung and breathing impairment, as well as muscular and skeletal symptoms, also become more apparent with age.

Patients with Scheie syndrome typically show normal cognition, with progressive physical problems such as corneal clouding, joint stiffness and heart disease.

Hurler-Scheie patients show minimal cognitive symptoms (except mild learning difficulties) with progressive physical symptoms.

Barbara

Barbara, 34 years old, diagnosed with MPS I, Scheie syndrome, at age 8

I had muscular, skeletal and vision limitations and slightly deformed fingers.

I was too young to understand and therefore it took me a long time to confront and accept my condition.

Towards the end of my university years, I started experiencing intense muscular pain in my neck, back and arms.

What is MPS (Hunter Syndrome)?

MPS II, or Hunter syndrome, is estimated to affect 1 in every 162,000 infants born, and presents with varying degrees of severity. Typically, symptoms appear between 2 and 4 years of age in its most severe form. Symptoms aren’t always evident at birth, and become more apparent with age.

What are the symptoms of MPS ?

The most common signs and symptoms, in order of median age of onset, include: recurrent ear infections, hernia, blocked nose, coarse facial features, enlarged liver and spleen, enlarged tonsils and adenoids, enlarged tongue, stiff joints, curved spine and heart complications.

Many of these symptoms can go unnoticed as they resemble common childhood complaints; it’s also hard to recognize as the number and type of symptoms vary significantly from patient to patient.

MPS II has a unique X-linked inheritance pattern among the MPS diseases, in that symptoms are almost always seen in boys. A handful of cases of MPS II in girls have been reported worldwide, but for the most part, females are carriers of the disease with no symptoms.

Silas

Nathalie, mother of Silas (diagnosed with Hunter syndrome at age 1.5):

The osteopath noticed that Silas didn’t invest much effort in trying to reach toys or crawling.

At 3 years of age Silas needed hearing aids and glasses, and by 3½ he was speaking and concentrating less.

What is MPS (Sanfilippo Syndrome)?

MPS III or Sanfilippo syndrome is the most common of the MPS disorders. It is composed of four different subtypes, each caused by a lack or deficiency of a different enzyme. When taken together, MPS III is estimated to occur in 0.28 to 4.1 of every 100,000 live births.

What are the symptoms of MPS ?

All subtypes primarily affect the brain and nervous system, causing developmental and speech delays. This is followed by progressive cognitive decline, behavioral problems, hyperactivity and sleep disturbance.

Physical symptoms, on the other hand, are relatively mild compared to other MPS diseases.

William

Patricia, mother of William (23 years old, diagnosed with Sanfilippo syndrome at age 17):

When William was 4 years old, I started to notice that he was very hyperactive, he didn’t sleep much and he was always very agitated.

He didn’t seem to be able to keep up with the children his own age.

What is MPS V (Morquio Syndrome)?

MPS IV, or Morquio syndrome, is estimated to affect approximately 1 in every 200,000 to 300,000 infants born, making it one of the rarer MPS diseases. Morquio syndrome can occur as either type A or B, each representing a different lysosomal enzyme deficiency.

What are the symptoms of MPS V?

Patients with either type often present with the same major symptom of minimal cognitive impairment but with severely affected skeletal development. Patients typically have a short stature, coarse facial features, loose joints, and may require a wheelchair due to instability and spinal cord compression.

Valentina

Debbie, mother of Valentina (diagnosed with Morquio syndrome at age 3):

The doctors couldn’t tell us how our little girl would develop.

We need to fight for her – she needs to keep that smile on her face!

What is MPS V (Maroteaux–Lamy Syndrome)?

MPS VI, or Maroteaux–Lamy syndrome, is a very rare form of MPS, with an estimated incidence 0.23 per 100,000 live births.

What are the symptoms of MPS V?

Patients with this disease often show physical symptoms resembling MPS I, but lacking severe cognitive impairment.

Symptoms are apparent from a very early age, with one of the key features being a developmental delay in walking. Other physical features include a short stature, skeletal changes, stiff joints, enlarged liver and spleen, hernia, heart disease and obstructive sleep apnea.

Hannah

Hannah, 13 years old, diagnosed with MPS VI at age 1

My classmates at school are great. Even though I walk into my class with my teaching assistant, a back rest, a foot stool and a laptop they still treat me like everybody else.

Hannah’s mother:

Hannah’s bone structure was unusual and there was a lump on her back.

What is MPS V (Sly Syndrome)?

Patients with Sly syndrome are rare and show large geographical variation, with an estimated incidence of 1 in 300,000 to 1 in 2,000,000 live births worldwide.

What are the symptoms of MPS V?

The condition is sometimes apparent very early on, with fetuses or newborns often displaying an abnormal build-up of fluid in the brain. Other early symptoms include a large head (macrocephaly), coarse facial features, recurrent ear infections, and a varied spectrum of neurological and cognitive impairment. Skeletal abnormalities may present later in development, and include short stature, joint stiffness and curvature of the spine.

POPPY

Parents to Poppy 3.5 years old, diagnosed with Sly syndrome

The first thing you notice about Poppy is that she is tiny. She lacks strength in her arms and legs due to GAG accumulation in her joints.

In spite of living with a lot of challenges, especially with her joints and scoliosis (curvature of the spine), Poppy works very hard to make sure she keeps up with life – she’s very determined!

Despite her physical challenges, Poppy is widely known as a sweet, bright and vibrant little soul.

What is MPS X (Natowicz Syndrome)?

MPS IX is the rarest form of MPS, with only 4 cases being reported as of 2011. Due to its rarity it is difficult to describe the typical course of the disease but based on observations from a very small number of patients, symptoms include short stature with mild coarsening of facial features, cysts, frequent ear infections, cleft palate and swollen and painful soft-tissue around the joints.

Meet the MPS Specialists

LEARN MORE ABOUT MPS

For more resources, guidance, and stories of real patients living with the disease, please take some time to visit the national MPS Society website at www.mpssociety.org

Whether you are a patient, parent or healthcare professional, MPS societies can offer support and understanding within their community and are always welcoming new members.

By growing and building the online MPS community, you can make your opinion heard in crucial areas such as research, innovation and healthcare policy.

Other resources

Family Caregiver Alliance (caregiver.org): information and online support groups

Angel’s Hands Foundation (angelshands.org): support for families.

Family Voices (familyvoices.org)

Hunter patients (hunterpatients.com): Takeda MPS II disease awareness site for patients, caregivers and healthcare professionals

The Genetic Alliance (geneticalliance.org)

The Global Genes Project (globalgenes.org)

The Individuals with Disabilities Education Act (IDEA) (idea.ed.gov): IDEA is a federal law ensuring services to children with disabilities. IDEA governs how states and public agencies provide early intervention, special education, and related services to more than 6.5 million eligible infants, toddlers, children, and youths with disabilities

References

  1. MPS Society US: Learn, Diseases. Available at: www.mpssociety.org/learn/diseases/ [accessed March 2019].
  2. Burton BK, Giugliani R. Eur J Pediatr 2012;171(4):631–639.
  3. Khan SA et al. Mol Genet Metab 2017;121(3):227–240.
  4. Giugliani R et al. Genet Mol Biol 2010;33(4):589–604.
  5. Raluy-Callado M et al. Orphanet J Rare Dis 2013;8:101
  6. Martin R et al. Pediatrics 2008;121(2);e377–e386.
  7. Wraith JE et al. Genet Med 2008;10(7):508–516
  8. Wijburg FA et al. Acta Paediatr 2013;102(5):462–470.
  9. Montaño AM et al. J Med Genet 2016;53(6):403–418