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The Hopes and Fears of a Dad Caring for a Child Diagnosed With Sanfillipo Syndrome

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I was asked by my friend to write a piece for Rare Disease Day from a dad’s perspective.

I could have written a book, but here is a short piece of my life with a rare disease in my family.

On October 26, 1996, my world fell apart.

My daughter Rebecca was diagnosed with a rare degenerative disease called Sanfilippo syndrome at the age of 3, with a life expectancy of 14 to 18 years.

Our consultant had carried out a week of tests on Rebecca, and it resulted in us receiving the news. We were told about her diagnosis in a very matter-of-fact way, as if she had a common cold. On reflection, we should been taken aside and told all the implications of what was about to happen to our baby girl in the years ahead. I was quite angry with the way we were told this news, which added to the hurt.

Rebecca became hyperactive and her behavior was extremely challenging for years. She had little or no desire to sleep, which is a big part of Sanfillipo syndrome.

I was working and found it difficult to rest as my wife and I took turns staying up with Rebecca at night just watching cartoons or singing to her. This routine went on for years.

As she reached the age of 7 to 9, she began losing her skills. Gradually her mobility gave, her speech slowly disappeared, she developed epilepsy and her spine and back developed problems.

My baby girl’s rare disease has no cure or treatment.

It devastates me.

We attended Our Lady’s Children’s Hospital in Crumlin, Ireland, until Rebecca was 16, and then we were discharged to Temple Street Children’s University Hospital’s metabolic unit, which was great. We got good care in Crumlin but being the only case there, we felt so isolated.

In the metabolic unit at Temple Street, Rebecca got the attention and understanding she deserved. We now attend Mater Misericordiae University Hospital’s adult metabolic unit.

I think a rare disease is isolating, as you have little contact with others to share ideas and tips on coping. With the big growth in social media in recent years, connecting with other parents or dads is great.

The illness has had an effect on all of our health. I struggled to come to terms with it.

What could I have done to change it?

Watching her illness take over her body has broken my heart and still does every day.

There were times when all I could see was her funeral. It played out in my head regularly. I’d go over the arrangements and who was reading and who would help me carry the coffin, even while working or driving my car. I would end up with tears streaming down my face. I’ve had to try hide it from my clients at work.

I can honestly say my heart and my mind have taken a beating all these years, but thankfully I’m still standing and caring.

man pushing his adult daughter in wheelchair
Tony and Rebecca.

As a result I’ve been in counseling to try deal with it, once when Becky was 10 and again more recently. I would strongly recommend counseling for any dad who finds it difficult, as it helped me greatly.

I have many hopes and fears for our future.

I dread the thought of her being cared for by this state if we pass before her. I hope this does not happen.

I hope her passing is peaceful and not painful.

I hope we have many more years with Rebecca. Thankfully, she has gone past the years we were told we would have, which is great. We have many good memories to cherish of her.

I hope newly diagnosed families are told their devastating news in a compassionate way. I hope research continues and we find treatment or cures for rare disease families.

A version of this post first appeared on It’s Me Ethan. Follow Becky’s journey on Facebook.

The Mighty is asking the following: What’s one thing people might not know about your experience with disability, disease or mental illness, and what would you say to teach them? If you’d like to participate, please send a blog post to Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

Originally published: March 3, 2016
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