Why I am not Phelan Lucky

Since my son's diagnosis, lots of people have asked me about whether I am a part of support groups that can help me. Give that there is only a handful of kids in my town that have his condition, support groups aren't quite the same as if he had another more well known condition.

So when groups to do with my son's condition try to raise awareness or money they need a catchy phrase and "Phelan Lucky" is the phrase that has been coined over the last year or two. I applaud them on their initiative, but I would never really wear one of these t-shirts that they produce, because I am just not Phelan Lucky about my son's condition.

Last year I was asked to present to a group of Year 10's about my son's conditions. They were doing a unit on Ethics with Gattaca as the stimulus. In a world like Gattaca, Nicholas would probably not exist.

My presentation was part of the Religious Education lecture on the value of human life and I spoke about how although Nicholas is hard work, his life has added value to mine that I couldn't imagine.

Recently I have shown a number of friends my speech and they have encouraged me to share it online so that others can read it.

Here was my talk (now with added hyperlinks!).

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Dear Phelan-McDermid

It has been an interesting journey, this last year.

It was in May 2014 that my two year old son, Nicholas, was diagnosed with you. We had spent the previous 6 months coming to terms with his diagnosis of “Low functioning Autism”. Not the trendy Asperger’s or “high functioning”, but the darker, harder to handle “classic autism”. But it wasn’t until we talked with our assigned Genetics Councillor, that the enormity of the diagnosis hit us.

In one sense, my scientific mind finds you fascinating. How the deletion of something so small called SHANK3 can cause so much havoc to someone’s brain development. I’ve learnt about chromosomes, proteins, human growth hormone, and like the nerd that I am, I stalk research scientists online in the hope that they might share a bit of the puzzle with me and perhaps even a pathway to improving Nicholas' quality of life.

People comment about how positive I talk about his condition. Perhaps it’s years of training to be a teacher that allows you to put on that mask when you are talking about something that is so personal and difficult to fathom.

Just like every other chromosomal syndrome, the effects are circumstantial and never the same as another child with the same diagnosis. This is both a fascinating and frustrating aspect of chromosomal deletions. Nicholas is 1 in 1000 kids worldwide diagnosed with you. 

How lucky are we? 

We should buy a lotto ticket!

Christmas 2015

But then the reality hits, although all the science might be interesting, the diagnosis is very real to me. Because of you, Phelan-McDermid, my son won’t experience the world in the way I had hoped he would. 

At a metabolic level his brain doesn’t make the protein needed to create new pathways, new synapses. Any skill that he learns can be very easily lost and regression is a key characteristic of his condition.

I see how excited my daughter gets as she discovers something new and I know that because of you, Nicholas will never be able to embrace the rich learning opportunities that this world has for him.

In 20 years time, as my husband and I approach retirement, we will still be caring for a man that will be fully dependent on us to be fed, for his nappy to be changed, for him to be washed. 

There is a high likelihood that your presence in our son’s life might lead to epilepsy and maybe kidney disease as both of these conditions are a characteristic of Phelan-McDermid.

Christmas 2015

There is this moment in the mornings before the dawn breaks, in my dreams, when I can imagine that my life is normal, or perhaps as I had always planned it to be. That I have a normal family, with normal “first world” problems.

When I was pregnant, people asked what I was having and I said that I didn’t care so long has he was healthy. When Nicholas was born, we counted the fingers and toes and a wave of relief washed over us.  Those first few months you dream of how your child might develop and grow. You look into those eyes and wonder what life holds for him.

And for us there were no early indicators that anything was “not right”. We did all the tests that we needed to do while pregnant so that there would be no surprises.

Nicholas was slow at crawling and not talking much, but that didn’t stop you looking forward to possible conversations about life, the universe and everything. Being part of the audience as they graduate, giving them relationship advice or having heated philosophical discussions.

You look forward to how you might pass on your values and beliefs to them, and how they might become productive happy adults creating lives and families of their own.

To then hear the news several years later that your son will most likely never speak, will probably be dependent on you for the rest of your life and will never find recognizable enjoy in all the things that you wanted to show and teach him; It is heartbreaking.\\

But then I look at him playing on his trampoline and slide, and I see an innocence that he will never lose. He will never worry about things like money or war and he will look at the world in a totally different way to the way that most people do.

He will sleep when he needs to, he will communicate that he needs food and drink and when he feels like dancing he will take my hand and motion for a twirl on the kitchen floor.

We will continue to hear squeals of delight when he hears Justine Clarke’s voice, and he will never grow “too old” to enjoy Sesame Street.

He will never tire of lining up his cars, and a sheet of stickers will continue to be a source of enjoyment for him and frustration for us when tidy up at the end of the day.

Spending time with the family will always be exciting, we will never have to experience the moody teenager stage that many of our friends experience at the moment. He will always wear the combination of clothes that I look out for him, although he would much prefer to be running around naked.

Mummy’s hugs will always be welcomed and he will never be too old to “hold my hand”. He will never be manipulative, nasty or jealous - Happiness for him is a genuine feeling, not a mask to be put on for others to see.

When we walk to new places he notices the texture on the ground or the reflection on a wall. He looks at the sky with a sense of wonderment and when he is sick, he wants me in his bed next to him guiding my hand to cuddle him.

He will never tire of the Benny Hill tune to cue to him that it is bath-time. Faithfully he grabs our hand each time and drags us up the stairs, and is often standing in the bath trying to undress before the water is switched on unlike my daughter who avoids having a shower like the plague.

His disability has brought our friends and family closer together. Meeting his needs means listening to each other and supporting each other.

Birthdays and Christmas’ are not about the multitude of gifts but rather the experiences that we can share with him. We have had the best belly laughs by the unpredictable way in which Nicholas tries to get to the cookie jar or the way he tries to play Humpty Dumpty with you on the couch.

We have found out who our true friends are, as they offer to babysit this special needs child for no other reason than they are our friends.

Although there are days when I hate the fact that you have come into our lives, I hope that I will be able to turn this problem into an opportunity to learn, grow and support those around us who are struggling far more than we are.

At the end of the day, Nicholas being happy is the most important thing in my life at the moment, not the job, not the new car or new iPhone, but seeing a genuine smile on my son’s face.

So while I am not "Phelan Lucky" about my son's diagnosis, I am trying to see the positive side.

From

Nickie’s Mummy