Light and shadow – daily life with Mucopolysaccharide storage disorders

Light and shadow – daily life with Mucopolysaccharide storage disorders
© iStock/Johannes Weigl

Susanne Kircher, co-founder of the Austrian MPS Society, talks about the rare chronic diseases, mucopolysaccharide storage disorders.

Mucopolysaccharide storage disorders (MPS) are rare chronic diseases, which usually become apparent in childhood, or in very severe cases even prenatally. Most patients are therefore diagnosed in an early age. Occasionally diagnosis is extensively delayed, often due to the rarity of the disease and the nonspecific symptoms and signs which are not interpreted correctly such as inguinal hernia, umbilical hernia, recurrent upper respiratory tract infections, recurring otitis media and enlarged tonsils and adenoids.

Let’s talk about mucopolysaccharide storage disorders

MPS are a group of differently manifesting diseases, all belonging to the umbrella of lysosomal storage diseases. They are caused by deficient enzymes responsible for the degradation of glycosaminoglycans (GAG), sugar-rich chains in the extracellular matrix of connective tissue. As these components are represented in many tissues and organs in the body, the consequences of failed breakdown and storage are notable in many areas- it is a multi-systemic disease with a broad spectrum of clinical signs.

The symptoms range from skeletal deformities to functional restriction of internal organs to severe disorders of brain function. Some patients become blind; most are hard of hearing, and almost all have a reduced life expectancy. The average life expectancy for these children is only 15 years.

MPS has many faces

Each of the subtypes (from MPS I to MPS IX) display differing dominant problems: in MPS I (Hurler´s disease), II (Hunter´s disease), VI (Maroteaux-Lamy-disease) and VII (Sly disease), it leads to an enlarged liver, spleen, heart and head, thickened skin, mucosa, brain and spinal cord or heart valves, enlarged tongue and finger contractions, which are the indications of the MPS patient´s group.

In the four known MPS III subtypes (Sanfilippo A – D) the nervous system is the most vulnerable; due to storage in the central and autonomic nervous system, over the time, any skills which had been gained are lost. Finally, the most severe patients need to be provided with nourishment, turned in their beds, and provided with a ventilator and oxygen.

Lastly, the two subclasses MPS IV A and B, the so-called Morquio diseases, cause severe skeletal problems, laxity of ligaments, instability of the cranio-cervical junction and often decreased body length, sometimes even dwarfism. Mental impairment can be observed in many types of MPS except MPS IV, but the degree of severity ranges from mild to severe and sometimes cannot be predicted in the early age.

Light and shadow in the early years of life

When a baby with MPS is born, there is nothing to suggest what will happen in the future. The uncertainties begin when the parents begin to compare the child with other children and can see that there is something different. During this time, the parents will try to find out what is wrong, and they go from medical doctors to specialists and back again, but often none of them can find the cause.

This is a very dark time, as parents come to expect the worst and the medical system or the professionals within it do not take them seriously. This period ends on average after seeing at least 10 different specialists and living for months or years without a diagnosis. Parents try to inform themselves via the internet and in doing so they read about terrible symptoms and death. They look at their child and try to imagine what will happen to them – a child filled with joy and love for life.

Light and shadow during kindergarten and school

Children with mucopolysaccharide storage disorders mirror their environment and the people surrounding them. If they feel loved and accepted as they are then everything is fine. They cannot see themselves from the outside, they only recognise the reactions they produce. The more normally they are treated, the better the integration and the easier life is for them. Handicaps begin to take hold and the MPS patient affected must learn that they are different which can cause them to become depressed.

This could be for a number of reasons – because they are smaller than other children, they are unable to participate in class excursions, they cannot fully participate in gym classes, they have problems writing, hearing, reading, with their dexterity, or they can become noisy and aggressive. Limitations are part of daily life and as a result it becomes very difficult to find real friends.

Children have a natural understanding of their weaker classmates, but unfortunately the parents of healthy children sometimes try to keep them away. Parents of children with MPS experiencing increasing mental impairment are sometimes told that their child cannot be properly educated, because how can they can understand when their development is proceeding backwards? Abilities are being lost and anything successfully learned is forgotten.

Light and shadow during reflection and acceptance

Disability is still considered as contagious by some, and sufferers must be tremendously strong to survive everyday life. Many do not confide in their parents about how they are feeling to try and spare their feelings due to guilt. The family are increasingly spending time in waiting rooms at the doctor’s office or hospital which can be very frightening, and the patient may be losing their friends or having to change their school classes as their needs can no longer be met. This can be a time of great loss.

Parents must soon realise that their child will have a very different future from the one they dreamed of. For those affected with mental impairment who are placed into situations which they cannot comprehend, it must be incredibly overwhelming. For those who are diagnosed but suffer no cognitive decline it could conversely be a time filled with leaps in development but bittersweet in the knowledge of the fate which awaits them. They may eventually come to accept this – although not without first going through the frustration, despair and depression.

Light and shadow during adulthood

Not all patients reach adulthood, but due to new therapies and treatments it is becoming more and more common that they leave school, gain a professional education and enjoy a career- if they are awarded the chance. This could be the first time in life that they recognise that they did not enjoy equal opportunities to their peers were awarded to prove what they are able to accomplish. Many employers are uncertain and discriminate against impaired people through ignorance. Months and even years can pass in which those affected develop self-doubt because they are rejected everywhere they turn. There are years in which skills go unused – skills which may be lost entirely as the disease progresses.

We know of one patient who is greatly affected by Mucopolysaccharide storage disorders, successfully working as an assistant at a university – and others as in leading positions at various companies – as auxiliaries in stores, teachers in schools, fire fighters, delivering newspapers, cobblers, journalists, scientists, philosophers and musicians. This is indeed the same spectrum of opportunity as for those who are not affected.

However, besides these positive aspects, they are often expected to be content with a lower income for the same work, less acceptance and rude and offending remarks. They must be much stronger than many healthy people. They already struggle with obtaining medical help, support from social institutions, accommodation they can live in with their physical handicaps and with public transport – as modified cars for them are extremely expensive.

Light at the end of the tunnel?

In earlier times those affected by MPS had no opportunity at all to enjoy an education or develop in a profession, as their lifespan was simply too short. Nowadays, survival rates have improved drastically, and the individuals develop hope for their future; for friends, relationships and families. More and more MPS patients live an almost ‘normal’ life. They have partners and even children, which was unthinkable in the not so distant past. There are more and more technical devices which are making everyday life easier, even for those using a wheelchair. Many patients benefit from the home care therapy they receive every week (enzyme replacement therapy), so the number of hospitalisations is reduced.

Therefore, parents and society still need to learn to accept that MPS patients also deserve to lead their own life. It takes time to change the hitherto unthinkable. It seems that those affected themselves take the initiative to lead a self-determined life. Let us make it easier for them and give them every possible chance to succeed and be happy.

About MPS Austria

The first ever self-help association for MPS existed in the USA, followed by the UK. In Austria, the first European MPS society was founded by Marion Kraft and Dr med. Dr Susanne Kircher in 1985. Germany followed suit in 1987 and in the present day there are MPS societies in most European countries who are all connected.

In November 2017, the birth of MPS Europe GmbH, whose founding members are from twelve European countries, was announced; the Advisory Board is made up of representatives from Austria, Germany, Switzerland, Serbia and Spain who meet four times a year. The other shareholders are currently located in Denmark, England, Ireland, Italy, Netherlands, Hungary and Sweden, but other countries will soon follow.

The Austrian MPS society has been run by Michaela Weigl since 1999 as a non- profit charitable organisation and has been a recipient of charitable donations since 2009, being awarded the Austrian donation seal of quality in 2011.

Our hope and our vision is that one day, there will be a causal treatment or cure for each of the different forms of MPS. We seek information about the ongoing research worldwide, to try to advance this and support meaningful projects related to the development of new therapies. For this purpose, we also cooperate internationally with other MPS companies.

Susanne Gerit Kircher
Co-founder
Austrian MPS Society
+43 14016038077
susanne.kircher@meduniwien.ac.at

Please note, this article will appear in issue 10 of Health Europa Quarterly, which will be available to read in July 2019.

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