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My daughter has a rare disease - here's what it's like as a parent

Parenting can be a stressful and challenging task at the best of times. From conception through to birth, getting to know your baby and navigating what’s best for your child as they grow into a young adult is a big responsibility that requires a lot of patience and perseverance.

For Mary Storch, mother of a daughter with a rare genetic condition, parenting presents these same challenges plus many more that most of us will never experience.

Mary’s daughter has a condition known as Smith Magenis Syndrome, a condition affecting many parts of the body, including mild to moderate intellectual disability, delayed speech and language skills, sleep disturbances, and behavioural problems.  

Here Mary shares with us what it is like for her as a parent of a child with a rare disease.

When people learn your daughter has a rare disease what is their reaction?

People are universally sympathetic when they learn that you have a family member who has a rare disease. They understand that there is extra pressure and that it is very challenging to meet the needs of the ill family member and to balance this with caring for the other members of the family too. This empathy and compassion is a great support for every family, and for this I am truly grateful.

What do you feel is one of the largest challenges families face when a loved one has a rare disease?

What might surprise people is some of the unexpected monetary challenges families living with rare disease face. Australia has a health care system that is widely admired, those with rare diseases requiring essential medical tests and medications are often not able to claim these through Medicare or private health funds. I’ve found that because the disease is rare, they are not part of the system. This does not seem quite logical or fair to me.  Especially, given the increased medical needs of those with rare diseases.

How do you manage your personal relationships alongside your daughters care?  

There is an increased pressure on relationships between parents when parenting a child with a rare disease. Families coping with rare disease are far more likely to break up, placing even more pressure on the parent who remains with the children.

My ex-partner said "I need a social life" just before he left. It's true, coping with a rare disease does put a damper on your social life.  It also puts a damper on your work life. Like many other parents of a child who needs a great deal of extra care, I have left a well-paid job and taken a less financially lucrative career-path. This is because children with rare diseases need more time dedicated to their care. These realities, that affect all families living with rare disease, make the fact that we pay far more for our essential medical care seem even more unjust.

Is there a way that others can support Mother’s like yourself and other families of children with rare diseases?

Mary with her daughter Sophie

If you could talk about this issue with your friends, it would support us all. This helps to give a voice to people living with a rare disease, and for their families who are often isolated. The wider community can help to bring them out of this isolation.

This month we are celebrating Rare Disease Day so there is a little bit of information out there and if we could all acknowledge and support families and individuals living with rare diseases this would mean a lot to many, including myself.

Some things you may not know about rare diseases in Australia…

  • A rare disease in Australia is defined as one which affects 1 in 10,000 people or less
  • There are between 6,000-8,000 known rare diseases, majority of which have a genetic basis
  • Although individually each disease only affects a small amount of people, when combined rare diseases affect up to 10% of the population
  • There are up to two million Australians living with a rare disease
  • Most rare disease have a childhood onset and can be life-threatening or chronically debilitating
  • Obtaining a diagnosis can be an arduous journey for some, with a significant amount of people never gaining a diagnosis
  • Many rare diseases have no cure

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