Friday, 22 January 2016

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!).


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.


Nickie’s Mummy


Unknown said...

I think you're much closer to seeing the positive side than you think. A wonderful piece of writing from a wonderful person.

arm22q13 said...

Margaret sees her future with a precocious clarity, considering she has only scratched the surface of her journey with Nicholas. (My son, David, is 30.) Some things she supposes may not occur as she predicts. Our children do grow up. They learn to worry. They are child-like in some ways, but older, too. We hope the happy ones remain happy. Many of our kids are happy as youngsters, although not all. Some of that childish self-amusement can remain and Margaret captures that essence beautifully. The two universals that make this essay one that every parent can understand are the desire for a healthy baby and the hope that our adult child will always be happy. "Not Phelan Lucky" is about giving up on the first and learning to appreciate the second.

There is another reason for "not Phelan Lucky". This awareness campaign is about fundraising, the fundraising is about promoting science to treat 22q13 deletion syndrome and SHANK3 mutation syndrome, and those efforts for treatment are supposed to be about hope. I don't share that hope. The Phelan community lacks a well-conceived science policy. Without one, money is not well spent. Science, education, healthcare, economic, etc., are complex endeavors and too easily driven by the politics of the finances behind it. Our community lacks professional leadership. Perhaps we should stop operating on "Phelan Lucky" and start "Phelan Professional". That is when I will start feeling lucky.

Unknown said...

A beautiful and poignant letter.
While I cannot relate personally as a mother of 3 neurologically "healthy" children, I can relate from the perspective of a family member to a cousin with PMG, MS and autism and as a friend to several mothers of children with varying degrees of autism along the spectrum.

I also have the distinct honor and pleasure of calling 13 year old Jack and his amazing family my friends.
Jack has PMS (Ring 22). While I know his family in no way "feel lucky" that Jack was given this diagnosis, they have taken the opportunity to look at the cards that were dealt them and chose to have a positive perspective. Rather than sit back and let this extremely rare syndrome go unnoticed they have chosen to bring awareness and possibly some hope to families like yours.

I am a big supporter of the Phelan Lucky campaign. I can't be there at 5am when Jack wakes up ready to start his day, every weekend; he likes to sleep in on school days. I can't be there to care for Jack in the way that I know it could really be helpful. What I can do is buy a t-shirt and donate money and share it with my family and friends so they can support it too. Why?Because we are all willing and wanting to help our dear friends and other families with PMS kids.

The campaign could have easily been Phelan Love with a heart on Valentine's day or Phelan Hopeful or Blessed or you name it because these are kids that are being diagnosed and families that are living with it.

I can't fully relate to a PMS diagnosis, but I can honestly say that I am PHELAN LUCKY to know Jack and his family. My kids are PHELAN LUCKY to know Jack and to learn so much from him every time they spend time with him. Jack and your son Nicholas and you and all the families and those with PMS have so much to teach the world. Patience, perseverance, determination, unconditional love, understanding, faith and so much more.

My family of 5 is PHELAN LUCKY again this year and we are all working on growing the awareness of the campaign in our community, our schools and spreading the word as far and wide as we can. We encourage our friends to do the same because it is something. Just as the ice bucket challenge brought awareness to ALS, the Phelan Lucky campaign is hope that awareness and research and funding will come to those with PMS.

Is it perfect? No. Show me a fundraising campaign that is. It is something. It is hope. It is a chance for more understanding of PMS in the future. It's the POSSIBILITY of more, better, hope.

Best wishes to you and your family,
Kira McDonnell

arm22q13 said...

Kira McDonnell

I appreciate your comments and your deep desire to support your friends (and my son). The problem I identified is not a problem with fundraising. The problem is that good intentions, awareness, hard work and luck are not a formula for seeing that quality science moves in the direction of most value to children and adults with 22q13 deletion syndrome. Without qualified and unbiased science guidance, there is a lack of science policy that prevents the POSSIBILITY of a better future from becoming a REALITY. I suspect you run your family finances primarily on priorities and planning, rather than hope and luck. Jack and David deserve at least that much consideration.

I don't want to detract any further from the beautiful essay, above. If you want to learn exactly why I feel the research direction is misguided, you may read my blog: It is about raising a child with 22q13 ds and the science behind it. I invite you to make comments there. My hope is that thoughtful families (and thoughtful friends like you) will begin to understand the importance of guiding research with the level of professionalism that is essential for real progress. I am 30 years into this and have not given up the hope to see science benefit David. But, on the present path, that is not happening. The sooner we fix this part, the more likely Jack will reap the benefits. That awareness is, perhaps, most important.