Surviving Christmas

I'm rather glad that Christmas is over. It isn't so much the material build up that bothers me but the social expectations that are rammed down your throat by media and advertising. The visions of kids opening their presents, getting excited by meeting Santa.

Having a boy that has a disability makes the Christmas experience very different for us and not one that I am totally at ease with. For his sister, there are the usual gifts and revelry. But for Nicholas, it is just the same day as yesterday and so long as he has water, cookies and iPad he is happy with the world. It is hard to plan a "special Christmas" when there is no excitement in receiving a present; no curiosity, no engagement.

The upside is that there is no arguing over what to wear or what gifts to get. For Nicholas we got him practical gifts.

A cordless hair clipper.

It doesn't sound like much, but the trips to the hair dressers have gotten painful. He doesn't like the sound of the clippers or the sound of the salon. Screams, pinching and biting are normally part of the experience for us as we try and make the experience as painless as possible using iPads and cookies as a hook to get him to cal down. After reading an article on Finding Coopers Voice, we decided to bring the experience home. If we do it often enough he will get used to it. The first time we used the clippers we still had screaming, pinching and biting (broken skin). But at least it wasn't in front of a salon full of people wanting "me time" by getting their hair done.

Social Stories, I hear you yell out! Nicholas isn't cognitively strong, so social stories don't have the impact that you would hope for. Believe me we have tried many strategies; we know our son and how he reacts to things.

So I am glad that Christmas is over and done with and that we didn't over buy for Nicholas things that he wouldn't play with or destroy.

Weekend Respite

The hubby and I stole a few days away in Sydney last weekend, by ourselves. No kids, no real commitments just both of us together. 2018 has been one hell of a ride so far and we both felt that we needed time to stop and recoup.

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Sometimes as a special needs parent you tend to forget to look after yourselves. I'm back at work full time this year, so I don't have that quiet time on a Wednesday that I used to get. The plus side is that I guess my career is taken more seriously because I am full time (but that is a blog post for another day). Hubby is part time and taking over the primary caring duties. The role reversal has been interesting, along with the assumptions and statements made to me about this arrangement for our family.

As Tori gets older, we can see that in a few years time she will be wanting to get more independent, making her own way to school and back. She can basically take care of herself at the moment, she knows all the university food group basics; scrambled eggs, 2 minute noodles and toasted cheese sandwiches. She helps with the cooking and cleaning and is happy to bring the washing in when asked.

As she gets older, the irony is that Nicholas is getting harder to manage. He is still not toilet trained at seven years of age; despite working on it for the last 4 years.  Still non-verbal, he can point to wanting a drink or something to eat, but there is not much "conversation" beyond that.  He will "pinch" us when he is not getting his own way and he has started to show signs of frustration, but it is hard to reason with a 25 kg non-verbal seven year old. He is slowly developing, but it is a at a glacial pace. He still needs constant 24/7 supervision and a highly structured environment. In another life I would have two kids who would be learning their way to independence. But alas, that was not the card that was dealt to me.

And then there is the NDIS happening, which will probably happen at the same time as the NBN and cause us a whole world of pain.

In the mean time, we will try and grab respite whenever we can, be it 2 hours on a Saturday or a weekend away (which happens very very rarely). 

My #phelanmcdermid boy

Isn't he gorgeous?

My boy who will never grow up.

My boy who will never want for much more than the basics.

My boy who will never talk.

My boy who cracks up over Dinosaur Train.

My boy who covets biscuits like he has never eaten.

My boy who delights in running around the backyard.

My boy who knows not what jealously is.

My boy who always wants kisses and hugs.

My Phelan-McDermid boy.

My Nicholas.

But he doesn't look disabled

When I post pictures of Nicholas online, I am conscious not to post pictures that show him in a negative light. We certainly document "the bad times" so that we can remember what happened and when, but when it comes to posting online I do try and post the most beautiful pictures of Nicholas that I can find.

Pictures that can #sparkjoy

To me, my son is Nicky. I do not know him in any other sense. So when someone meets him for the first time after talking with us about his diability, they often say "but he doesn't look disabled".

Most of the physical indicators of his syndrome are hidden away.

His hypotonia is hidden by his clothes.
His lack of talking is hidden by his smile.
His lack of eye contact is hidden by his long eyelashes.
His lack of social interaction is hidden by his jittering energy.

Our friends, meaning well, will say "oh but all kids are fussy eaters" or "all kids are mischievous". We have even had people say "boys will be boys" when they saw Nicholas dismantle something in their home.

But for us we know that he will essentially always be a fussy eater, he will always struggle with strength, environment, sound and social interaction. All of these factors will influence his ability to play and therefore learn.

But he is Nicky, and I love him to bits and I can't imagine him in any other way.

Reflecting on Rare Diseases 2016 #22q13

Another year has buzzed by and we are yet again reflecting on rare diseases and how we care for people with these disabilities in our community.

On this rare diseases day, we don't need pity or a campaign to raise money, we just want to be acknowledged and for our governments to acknowledge this changing healthcare landscape by properly funding science and research into rare diseases.

Up to 400,000 children in Australia have a rare disease (condition that affects less than 200,000).

My son Nicholas is one of 70 children in Australia with his condition and 1 of 1000 worldwide.

Nicholas has started school this year, at a Special Development School and he is blossoming. His learning needs are severe as he is still non-verbal and has difficulty communicating. But we are kicking some goals as he learns how to communicate his needs to us.

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

#BigRockTrip - Traveling with Nicholas

I'm not sure if we are crazy, but we agreed to accompany a group of close friends on a trip from Melbourne to Uluru during the Easter Holiday break. 

For those people with no concept of the size of Australia, it is like driving from one side of Europe to the other. But in harsher conditions, sometimes with days of no petrol stations or internet services.

Image courtesy of Google

Knowing that Nicholas is special needs meant that packing "lightly" was a bit more of a challenge than usual. I guess his disability isn't as very visual when you only see him every once in a while within a controlled environment. Often people comment that he doesn't look like he has a disability. At social events we can set him up in the corner with his iPad and his cars and he will generally be no problems. There is another four year old on this trip with us. When you put them side by side, you can see the differences quite clearly.

But in the outback, Nicholas can run and continue running. He doesn't respond to "stop", but will respond if we start to sing a Justine Clarke song. That has been the greatest challenge so far on this trip, his ability to go from stand-still to full on running in 5 seconds. Which is manageable if there is an adult looking out for him, but if you turn his back all of a sudden he is half way to Adelaide in the wrong direction. When he gets exhausted he falls to the ground and is a dead weight to pick up. He then re-energises and he is off again.

So we needed to bring a pusher with us. Which took up lots of room in the back of the car and sometimes the pusher was completely impractical in the outback (it is falling to bits and it is not a rough terrain pusher), but the ability to strap Nicholas into a safe space has been so important for his safety and our backs! At 20 kilo's we are pushing the limitations of the stroller a bit. 

He is too heavy to go into a camping back pack and when we do horsey rides on our backs he doesn't have the understanding to clasp his hands around our necks. We looked at the piggy back rider, but when he is exhausted he is a dead weight.

Today has been the first time since starting this adventure that I have had a change to read the online newspapers and although I was initially shocked to read the article of the Canberra Primary school that build a "cage like structure" in their classroom. I can totally relate to having a safe space where you can place a high-needs child. 

I'd be asking questions like, why does the child need a withdrawal space. For the safety of the child or the rest of the children? What disability does he have. Some autistic children are physically violent and bite. The article leaves out so many details and places all the blame on the school without allowing the reader to understand how the school came to the decision. I am sure that the decision wasn't made in haste and was made to try and ensure a conducive teaching and learning environment for all involved.

In the outback it is harder to allow Nicholas to roam free and do what he wants, he has loved the opportunities to run and feel the soil and use all his senses in this new environment. But his safety has to be paramount.

We have spent the night in Cooper Pedy in a hotel, and for me as a parent it has just been bliss. A confined and safe space with internet access. Tomorrow night we are back to camping and back to the carefully choreography that we go through to enable him and us to enjoy the outback safely.

Reflecting on Rare Diseases Day 2015 #22q13 @MCRI_for_kids

This weekend we pause to reflect on Rare Diseases Day which aims to raise awareness of rare diseases and conditions which effect members of our community. There isn't much that we can do as a society to "fix" people affected, except support those doctors and researchers that are finding ways to lessen the impact or cure rare diseases.

My son, Nicholas is one of about ~ 1,000 people worldwide (60 in Australia) who has been diagnosed with Phelan-McDermid Syndrome (22q13); a chromosomal deletion that effects the brains ability to produce the protein needed for long term memory and cognitive development.

As the costs of genetic screening becomes cheaper and more sophisticated, the ability for us to identify why children are developmentally delayed becomes easier. So cases like Nicholas' will become more common place in the future, rather than lumping them all under the "Autism" banner.

Nicholas has just turned four, and he is non-verbal which means that he finds it hard to communicate. His low muscle tone makes it hard for him to physically do sign language (Makaton) and his issue with memory means that he basically just can't remember. He has low muscle tone and auditory processing issues. Many of his habits manifest as what would traditionally be described as low-functioning autism.

He gets exhausted very quickly and has just dropped his 2-3 hour daytime nap. There are some physical issues along with increased risk of kidney challenges in his future. I am sure that you can google all the details if you want them.

Currently there are many 'institutes' in second world countries that offer stem cell therapy for children such as Nicholas. But the landscape is a bit of a 'wild west' with un-FDA approved clinics offering cell reprogramming that costs the earth. There are currently a number of hospitals looking into cell re-programming because there are implications for dementia patients.

Children such as Nicholas, will be less of a burden on Australia's disability support system if we make science and research our priority. Tacking on the label of Science Minister onto the role of the Minister for Industry, is just insulting. I try not to make political statements on this blog, but in this case, our Federal government has it wrong. I encourage you to let your local federal member know how you feel about cuts to Science, Universities and government funded research institutions such as CSIRO in favour of privatisation and the establishment of new private medical research insitutes who will only research if it is commercially viable.

But in the meantime, if you would like to help, please consider donating to the Murdoch Children's Research Institute to support ongoing research for cell and gene therapy to lessen the impact of chromosomal abnormalities.

https://www.mcri.edu.au/resear…/…/genetics/cell-gene-therapy
https://donate.mcri.edu.au/

On the Donation page, please mention Nicholas Kammel and then indicate the condition that he has, Phelan McDermid Syndrome or 22q13.

We are very fortunate to have a little boy that gets so much enjoyment out of life and who at least sleeps through the night. He finds great joy in Bubbles and slides, and is totally in love with the "Where is the green sheep?" book by Mem Fox and Judy Horecek at the moment.

He loves his family and he is learning to dance (quite clumsily) to Quando Quando Quando. But at 20 kilo's, he is still very much a dependent and we rely heavily on a pusher when we go out to either restrain him for safety or to push him when he is exhausted. When you pick him up, he goes limp like a rag doll cat, which makes dealing with him 10 times harder if he is uncooperative.

Nicholas will have a wonderful life, as he is oblivious to what is going on around him. 

Please consider donating and writing to your member of parliament.

;-)

Margaret

Phelan-McDermid Syndrome

If you are a common reader of the blog, you will have noticed some autism blogs appearing on my blog roll feed. If you have really been paying attention, you will have noticed some of them refer to Phelan-McDermid Syndrome. Our perceptive paediatrician ordered bloods for Nicholas to "rule out" any genetic abnormalities and hey presto, he had one (22q13.3).

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As you would imagine, there is a flurry of emotions running through my family at the moment. From anger to relief in knowing what is going on inside Nicholas' head.

So far I have been in touch with Megan Toole who runs the Australian arm of the Phelan-McDermid Syndrome Foundation. As there are only 50 registered families in Australia, the research on this syndrome just isn't there.

From a teacher's point of view, I've been doing lots of research on PMS and ASD. As a family it means that the next few years will be more of an adventure than we thought! Nicholas will need more intervention than he is getting at the moment and he will probably be a high-needs child for quite a number of years.

I am fortunate that I do have a wonderful supportive family around me and some wonderful friends who recognise the need for hugs.

So not much craft for me at the moment, my creative juices will be put into working out strategies for helping my wee man.