It was great to be asked to be part of the Rare Disease Day Event in Aberdeen today.  I was asked to say something about my experience of having a child with a rare disease.  This is my experience from a parent’s perspective.

From a parent’s perspective

When your child is given the diagnosis of lymphangiomatosis, a rare life-limiting and life-threatening disease you are given a life sentence.  This never goes away and affects every part of your life and the choices that you make.  Nobody warns you about the stress it can put on your relationship and family life, and the financial strain of having a child with complex needs.  Those first few years I went through an array of emotions – fear, guilt, anger, frustration and loneliness.

The disease is unpredictable and affects each person differently which forecasts a life of uncertainty.   Literature told me that my son, Alfie, may not see his 5th birthday but at the age of 9, he is very much alive and facing the challenges this disease throws at him every day.  Over time it becomes a way of life, the hospital admissions, appointments, the extra equipment needed to help with his mobility and day to day care, co-ordinating the different departments involved in his care, being his carer and his mother, as well as running a home and looking after my family.

Nobody could tell me why or how this had happened.  There was no information or guidelines on how the disease would progress, no treatments were offered and no support was given.  For two years, I sat and watched my son get progressively worse.  Looking back, I should have pushed harder and questioned things more – but I didn’t. I do feel that we were let down by the hospital system.  We were given a diagnosis of a rare, life-threatening disease and sent home with no follow-up plan and no one assigned to oversee Alfie’s care.  The disease didn’t fit within a certain department so we slipped through the net.  This should never have happened and it nearly cost my son his life.

Moving on 6 years –  As I have got to know and understand the disease better and how it affects Alfie, things have become easier.   The turning point came when I decided to take back control.  I accepted the cards I had been dealt and changed those feelings of isolation and frustration into something positive.

In 2011, I founded the Alfie Milne lymphangiomatosis Trust.   We are the only patient organisation for lymphangiomatosis and Gorham’s disease here in the UK.  I have gone from thinking Alfie is the only child here in the UK with this disease to now knowing of 20 other UK families, with over 150 worldwide.

Talking with others has helped those feelings of isolation and loneliness.   Working with other patient groups in Europe and the US, specifically for lymphangiomatosis and Gorham’s disease has given me the opportunity to learn more about the disease and how it affects others – so I don’t feel so afraid anymore.

My experience allows me to help the newly diagnosed families that are still struggling to come to terms with the diagnosis. Helping others makes me feel less frustrated and I am glad that people can learn from my experience.   It opened my eyes to the wide spectrum of complications and challenges that families face trying to get the right care and support.

I also, appreciate what a difficult job it is for the doctors to treat our disease when no two patients present the same symptoms.  Doctors may only ever see one case in their professional career.  Changes need to be made to how our healthcare system deals with rare disease patients.   We don’t expect every doctor to be an expert on every rare disease but we do expect them to know who or where to turn to if presented with a rare disease case.

Research into rare diseases is poorly funded so the best way I can help my son is through raising awareness of the disease and raising much needed funds to help move research forward, so doctors have a greater understanding and then more treatments options can be found to give Alfie and others, a better quality of life and hope for the future.

As a parent of a child with a rare disease and the founder of a patient organisation, I support Rare Disease Day.