All of Us, Son, Love All of You

9:35 p.m.

He is sleeping.

I have had a headache since the day before yesterday.

In the quiet, with every blink, I feel my upper eyelashes pat against the puffy purple bags beneath my eyes.

I sit.

I am huddled in a leather recliner next to his isolette.

I watch him breathe.

Tonight is good and kind and quiet for him.

His breathing is smooth, in and out, butter melting as it’s spread on toast.

Even still, I try not to count his ribs as his three-pound body inhales.

Martha, his night nurse, bounds into the room.

Martha is renowned on the unit for her electrical energy, often pulling double shifts without missing a beat.

She logs onto the computer.

Her hair pulled back, her shoulders high, her elbows animated as she moves the mouse and types. I’ve never before met a woman who has animated elbows.

“How was your day?  How’s our boy?” Martha asks, washes her hands, rocks back on her sneakered heels.

I felt brave, brave enough to tell the truth.

Or too tired to care.

Not sure.

Maybe I simply felt safe with Martha.

“This is too hard,” I tell her. “How am I supposed to keep doing this every day?”

“You’re doing great,” she says, looking confused.

Leave it to Martha.

She’s so black and white.

For a moment, I don’t think she’ll understand me if I keep going.


I watch her gently cradle his head in her hand.

She turns it to the side to check the central line running into his skull.

She does it so tenderly that he doesn’t even wake.

She cares for him with an exquisite love, one that can’t be learned in a textbook or classroom.

On second thought.

Maybe she will understand me.

“Martha, every day I’m waiting, watching, looking for a definitive answer.”

“We don’t know what’s wrong because of his brain bleed, and they say we won’t know until he’s much older.”

“How can I wait that long?  How can I watch each day? I keep looking for signs for things that are wrong.

I feel responsible to see it first and tell the doctors or they’ll miss it. It’s enough to drive me insane.”

It’s all out.

My headache eases.

Martha turns on the pump and it begins to feed him through the tube.

Then she looks straight at me.

It makes me uneasy.

Half of her face is illuminated from the harsh billi light, the other half is in the cool shadows of the room.

For the first time to me, she looks tired.

Her brows soften, her eyes fill with something beyond us, in this room, in this moment.

It is compassion, empathy, that assuages her energy.

When she speaks, her voice carries an edge.

“You’re absolutely right. Brain injuries are tough. You won’t know until you are long gone from this place. But you know what?”

I hang on her every word.

“When you choose to have a child, you do not order-up a baby. You sign-up to parent the child you’re entrusted with – the one you have, the one who is counting on you.

 If you only want to parent the perfect baby you want to have, you have no business becoming a parent.”

I don’t think she would have said that to every parent.

And not every parent would find hope in that fortune cookie moment.

Yet, magically, intuitively, maybe even spiritually, she knew, right there, right then, that I needed to hear those words.

She knew I needed a reminder that my son needed me, and I had an open invitation to cherish him exactly as he is, right now, tomorrow, and ever after.

No matter what happens.

I am a woman.

A rather ordinary woman.

And now I am a mother.

A rather extraordinary job.

He is a boy.

True, a boy with a brain bleed, and hiccups, and a mess of black hair.

He is mine.

We are connected.

By divination, by blood, by legalities, by the thread that stitches together our yesterdays, todays, and tomorrows.

These are our moments, our life.

“I’d like to hold him,” I barely whisper.

“That is a very good idea,” she says. “He likes that very much.  Hold him any time you want, for as long as you want.”

We wrap him in a fleece blanket, ease him out of the isolette.

A tangled mess of cords trail behind him.

He opens his eyes for a moment, looks up at me.

I settle back into the recliner.

“Thank you, Martha.”  I look up.

She’s gone.

She’s giving us our moment, our lives together.

“We love you,” I say.

And it is true.

We do.

All of us.

All of us, son, love all of you.

Noah’s Rare Disease Story

But with over 6,000 rare diseases, the Global Genes Project estimates that over 300 million people worldwide are affected by a rare disease.

That means that approximately 6-8% of the population of European Union lives with a rare disease.

Only 400 of these conditions have available treatment and 80% have a genetic component.

Diagnosing a rare disease can be a long and difficult process involving many genetic investigations, some families despite many years of testing are still to receive a diagnosis for their child’s condition.

Ashleigh and Nick Mitford know only too well the devastating impact that a rare disease can have.

Their beautiful first born child Noah lost his life to a rare disease on the 25th January 2012.

It was only following his death that a post-mortem revealed that Noah had Mitochondrial Disease. Noah’s rare disease story began over a year before.

Noah’s arrival was much anticipated, not only was he Ashleigh and Nick’s first child, he was also the first grandchild to both sets of grandparents.

He was destined to be a very special little boy.

Noah’s arrival on the 7th January 2010 marked the beginning of a magical year. His birth was by emergency C-Section but both mum and baby recovered well and Noah appeared to be a healthy boy.

Noah was a happy little boy, content, sociable and always smiling.

His family took great joy in watching him meet his milestones and especially enjoying the water, where he excelled with remarkable swimming skills far beyond those expected of a baby his age.

At 11 months Noah experienced an unexpected seizure but he soon bounced back and the family rounded of his first year with an amazing first Christmas followed by his first year birthday celebrations.

It came as a huge shock when Noah was rushed into hospital with a respiratory virus shortly after his first birthday. He was admitted to Intensive Care. Ashleigh and Nick were told that Noah had multiple organ failure including heart failure. He was clinging to life with his fingertips.

Noah was put into an enforced coma.

No one could explain why a simple cold was having such a devastating impact. Why Noah couldn’t fight it off as thousands of children do every winter across the country.

After two and a half months of sheer strength and resilience from Noah and tireless care from the Doctors, Nursing Staff and Noah’s family, Noah was strong enough to go home.

Noah appeared to be making a full recovery at great pace considering how desperately ill he had been. However, all was not as it seemed.

Later that year after leaving hospital, Noah began displaying autistic tendencies and very worryingly he began to regress in his development, losing skills he had so easily developed in his first years.

This time it wasn’t just so easy to re-learn the skills he had lost, despite intensive therapy at home.

However, the family were delighted when Noah took his first steps shortly before his 2nd birthday.

While Ashleigh and Nick were working hard to keep Noah well and continue helping him relearn his skills and manage difficult behaviours, investigations were ongoing as to why Noah was not able to fight simple infections.

He was tested for metabolic disorders including VLCAD deficiency, which prevents the body from converting certain fats to energy and can cause serious complications like life threatening heart problems.

However, this proved negative.

Tissue was taken from Noah’s leg muscle to test for mitochondrial disease, a specific and rare form of metabolic disorder.

The results from this test showed ‘no evidence’ of mitochondrial disease however the test was not able to conclusively rule it out.

At home Noah celebrated another wonderful Christmas and 2nd birthday at home with his family.

Shortly after these celebrations, the unthinkable happened. Noah contracted a tummy bug, but this time he couldn’t win the fight. On the 25th January 2012 Noah died very suddenly of heart failure. Ashleigh and Nick welcomed baby Daisy into the world, just three short weeks after Noah’s death.

Noah had one word ‘Daisy’, a word he used to describe anything pretty. Daisy didn’t get the chance to meet her big brother but his memory will live on through her.

Around the same time, the family received the news that Noah’s post-mortem through investigations of his heart tissue had found evidence of Mitochondrial Disease.

This was responsible for Noah not being able to fight simple infections, his seizures, the regression and his developmental delays.

The condition, like 80% of rare diseases, is genetic and Ashleigh and Nick were advised that Daisy had a one in four chance of being affected.

With no way of testing Daisy, her parents faced an agonising wait to see if Daisy had the same life-threatening condition as her brother.

3 years later and Daisy is a happy and healthy little girl and the family are beginning to relax in the knowledge that Daisy has not shown any signs of Mitochondrial Disease in her first three years.

However, investigations continue to try to establish the rogue gene that caused Noah’s mitochondrial disease with exome and whole gene sequencing. Ashleigh and Nick hope that the sequencing will help identify if Daisy is a carrier so that she can make informed choices in her future.

Noah’s family work tirelessly raising money and awareness of mitochondrial diseases and have raised close to £30,000 in Noah’s memory.

In recent news, MPs have voted in favour of making the Britain the first country in the world to permit IVF babies to be created using biological material from 3 individuals to help prevent certain types of mitochondrial disease.

Mitochondrial DNA makes up 0.054% of a person’s overall DNA and none of the nucleus DNA that determines personal characteristics and traits.

The House of Lords voted in favour of permitting this technique on Tuesday 24th February 2015.

This represents a major breakthrough for families who have been affected by certain types of Mitochondrial Disease and could pave the way to a brighter future for many.

Ashleigh and Nick know only too well the devastating impact that mitochondrial disease can have.

This technique would not have helped in their situation where the nucleus of the cell was affected. However, they wholeheartedly support these new developments that could benefit over 2,500 families in the UK.

The media coverage of the House of Commons and the subsequent House of Lords rulings has been extensive.

Ashleigh was delighted that the spotlight was being shone on Mitochondrial Diseases. However, she warns of the dangers of referring to the technique as ‘three-parent’ children.

Families of children who have inherited genetic conditions often suffer from a feeling of guilt that they have been the cause of their child’s disability or illness. I appreciate that this is a headline grabber but we must be very careful of using the term ‘three-parent children’.

It’s not helpful to the families involved and it’s not an accurate reflection of the technique of replacing a very small part of the DNA that doesn’t affect the child’s identity like looks and personality.

Biologically 99.9% of the child’s DNA will come from his or her mum and dad with less than 0.1% from a donor with the sole purpose of energy production.’

From From Noah’s Galaxy Fund website. Perhaps they are not the stars. But rather openings in the heavens where the love of our lost ones pours through And shines down upon us to let us know they are happy. Inspired by an Eskimo legend. For more information on Rare Diseases and Rare Disease Day visit – To support Noah’s Galaxy Fund visit –

Special Needs Parenting: A ‘Shout Out’ to the Daddies

Charlie had a brilliant therapy session last week.

So good, in fact, that I just had to give Michael a call at work to tell him all about it.

After missing him twice, we finally managed to make contact and I excitedly told him all about her amazing progress that morning.

When I’d finished, I expected him to be as cheery as me, but he just quietly said, “That’s awesome darling, give her a big kiss from Daddy. I have to go grab some lunch, talk to you later.”

A few minutes later (and a bit miffed), I sent him a quick ‘Are you ok?’ and got this text message:

“I’m just trying not to cry actually… it was amazing to hear about Charlie doing so much today… and heartwrenching that I wasn’t there.”

I realised then that it was perhaps a bit insensitive of me to call him at work to brag about another ‘first’ he’d just missed.

But this is the tightrope we walk.

Michael wants to hear all about Charlie’s therapy sessions, but he’s rarely able to take her.

He loves to talk about all the things she’s working on at home or with Nanna or at kindy.

We talk about all the children and their achievements all the time, but Charlie’s ‘big’ moments can be pretty few and far between, so they’re always a big deal.

Also, the bigger kids have news to share that comes from school, from friends’ houses, from band rehearsals or dance classes – these moments are theirs alone, because neither of us were there to see them first-hand.

Charlie spends little time away from me, so I’m almost always there when her ‘moments’ come.

I always worked full time before Charlie, and I do remember feeling some of what he’s going through.

Some days, it really sucked.

To Michael – and all the other Daddies (or Mummies!) in similar positions – I just want to say:

Thank you… for working hard and long hours so that our children can have one parent available to them most of the time.

Thank you… for never moaning if the dinner isn’t ready when you get home from work.

Thank you… for offering to cook it yourself sometimes.

Thank you… for saving your days off for specialist appointments, sports days, therapy sessions, parent/teacher interviews, and school performances.

Thank you… for doing the dishes on the weekends when you’d rather be snoozing on the couch.

Thank you… for taking freelance jobs where you can so that we can afford occasional treats (or just pay bills!).

Thank you… for staying in with the kids so that I can go to Happy Bowl and karaoke or just to the pub for a wine (or three) when I need a break.

Thank you… for arranging ‘surprise nights out’ for me – with you or with my girlfriends – when I’m too exhausted to think of it myself.

Thank you… for supporting my need to talk about my struggle with the transition from primary breadwinner to primary caretaker (on almost every date), and

Thank you… for filling the former role so seamlessly and without complaint.

Thank you… for patiently helping with homework and housework and cello practice.

Thank you… for being a supportive husband in every aspect of the word.

Thank you… for letting me vent about how difficult things are and how I feel like I’m going under sometimes.

Thank you… for celebrating the good times with us.

Thank you… for being a great Dad, and for spending one-on-one time with each of the children where you can.

Thank you… for everything it seems like I don’t notice – I do.

Changing Places Conference 2015

I landed at East Midlands airport collected my hire car and made the short journey down the motorway to Chesterfield.

I arrived in plenty of time, my plan was to get a coffee and sit in the corner.

I soon got chatting to a Physiotherapist, I was interested to find out why she was at the conference.

She explained to me that she was working on an accessible cycling project in the Forest of Dean.

They would like the centre to have a Changing Place facility and she was wanted to learn more about raising money to fund the facility.

The same therapist also owns an adapted coach to allow children with severe disabilities to enjoy days out.

Two lovely ladies called Jane and Gillian then sat down beside me, and although I didn’t recognise them, their organisation certainly rang a bell – Accessible Derbyshire.

It’s fair to say that Accessible Derbyshire is fairly synonymous with Changing Places.

In any of my conversations with Clos-O-Mat, they’ve encouraged me to get in touch with ‘the two ladies’ from Accessible Derbyshire.

So I was feeling a little awestruck when Gillian introduced herself and her colleague Jane to me.

Being around people doing amazing things in their local communities can only make you feel invigorated and motivated and I was beginning to sit up straighter and look forward to the first speaker.

Jane and Gillian spoke of their family experiences and why they had begun campaigning for better changing facilities for people with disabilities long before the campaign even had the official name of Changing Places.

Jane delivered an amazing sensory workshop to us.

It’s provided me with a very useful tool in enabling people to truly appreciate what it must be like for a disabled person to be changed on the floor of a public toilet.

Matt and Katie from Visits Unlimited spoke to the conference about what a great day out really looked like.

The group shared experiences of family days out and what has made them so special including help from staff on the ground, accessibility at a venue and of course, good changing facilities.

During the morning session, we also heard from Martin Jackaman, founder member of the Changing Places Consortium.

We learnt about the requirements needed to provide a full Changing Place facility.

He also warned that Changing Place facilities are not necessarily required in every venue and in fact an unused Changing Place facility could be detrimental to the campaign quoting a library example.

However, this should not discourage venues from providing better toilet facilities even if they can’t provide a full Changing Place facility.

Before lunch we had a short quiz, which our table won despite the fact I didn’t know George Best Belfast City Airport was the first UK airport to have a Changing Place toilet – I think I let the side down a bit.

After lunch we heard from two more mums, famous in the world of toilets for disabled people – Samantha Buck and Dawn Fidler.

I first heard about Samantha from her campaign a few years ago so was delighted to have an opportunity to meet her and her son Alfie.

Dawn Fidler is mum to Joshua.

Joshua sadly died last year, but during his short life he and his family campaigned tirelessly for Changing Places and his legacy lives on with The Joshua Wilson Brain Tumour Charity.

My only disappointment was not getting to say hello to the Clough family but hopefully I’ll have the opportunity to meet them at future events.

So what did I learn?

That there are amazing families all over the UK doing fantastic work for the Changing Places campaign, making real differences in their local communities.

However, it can take some time to install a Changing Place facility and that they aren’t right for every venue.

This is where I see Space to Change playing an important role – smaller venues aimed at young children should provide at the very least Green Space to Change but ideally Orange Space to Change.

Existing larger venues that cater for the whole community should provide Pink Space to Change where they don’t have the space for a full Changing Place facility.

For more information on Space to Change levels click here.

Every venue can make small changes right now that will make the lives of families with disabled children easier – from providing large changing mats, nappy bins and private rooms for changing while the venue works towards improving its toilet facilities in the longer term.

If you would like to get involved in the Space to Change campaign, become a Champion and talk to your favourite venues about the improvements they could make.

Also, from a personal perspective, I realised how far behind my home city and country are in terms of facilities for disabled children and adults.

With only 9 Changing Places and very few toilets providing better than average facilities in Northern Ireland we have a lot to learn from our neighbours across the Channel.

If you live locally in Northern Ireland please get in touch!

Together let’s make change happen.

I really left that day feeling totally inspired and motivated.

It was an amazing opportunity to hear about organisations and individuals all over the country working so hard to make life better for their families and the thousands of people with disabilities living in the UK.

Additional information:

Perhaps you’re reading this and asking, What is a Changing Place?

Changing Places toilets are different to standard disabled toilets with extra features and more space to meet these needs.

– a height adjustable adult-sized changing bench

– a tracking hoist system, or mobile hoist if this is not possible

– adequate space in the changing area for the disabled person and up to two carers

– a centrally placed toilet with room either side for the carers

– a screen or curtain to allow the disabled person and carer some privacy

– wide tear off paper roll to cover the bench

– a large waste bin for disposable pads

– a non-slip floor.

We’d love you to sign Samantha’s petition today and help her get to 25,000!

Accessible Derbyshire


Visits Unlimited

The Joshua Wilson Brain Tumour Charity

Learning Disability Children

I expect if you’re dealing with a number of educational and medical professionals and juggling appointments and personal and professional obligations, you probably haven’t stopped to ponder something like your learning style for very long.

But it is essential.

If I can ensure information regarding your child’s development is understandable to primary caregivers and meaningful within the daily workings of your family, your child benefits that much more.

You have a lot of information coming at you.

And when it’s coming from your educational and health care teams, it is coming from an informed and well-intentioned place.

But how am I most likely to present information to you?

Usually the way I learn best, which is not necessarily the way you learn best.

More doctors tend to be auditory learners and will rely in giving you a verbal explanation.

Physical and Occupational Therapists tend to be kinesthetic learners, who prefer to learn through movement and hands-on experiences.

I ask those around me to respect that I don’t retain all the things I hear, and I have to respect you if trying new positioning or handling with your child after a quick demonstration is outside of your comfort zone.

But we still need to learn the things we need to learn.

Are you a visual learner?

Do you need to see things in order to remember them?

Snap a quick picture of the new position or activity your child is working on with the Physical Therapist this week.

Take a short video of skill the Speech Therapist is focusing on this week.

Ask your education team for drawings and handouts relating to the current developmental milestone being emphasized.

Are you an auditory learner?

Do you get more from listening to a lecture than reading the same content?

Does reading out loud help you remember things better?

You probably remember the 2-3 highlights from the session your Early Interventionist reminds you to focus on  at the end of each visit.

Perhaps it would help you to have your Occupational Therapist make a brief audio recording or leave a voice message with key points.

Do you learn best by reading and writing?

This seems to be the preferred style of the teachers on my team.

You are the one who most appreciates the handwritten or e-mail recap of the Early Intervention visit. If this is your style, don’t be shy about requesting notes or taking your own.

Are you a kinesthetic learner?

Do you need to get you hands on and literally get the feel for a skill or concept?

You are most receptive to the coaching model in Early Intervention, willing to show how you and your child work on a skill and actively modifying with input from the interventionist for an even better outcome.

Ensure that your Early Interventionist doesn’t just show you a new strategy, but also allows opportunity for you to practice with guidance.

Advocating for your own learning is a small but significant way of advocating for the best outcome for the child you love.

French, Glenys, Tessa Cosgriff, and Ted Brown. “Learning style preferences of Australian occupational therapy students.” Australian Occupational Therapy Journal 54.s1 (2007): S58-S65.

Prithishkumar, Ivan James, and S. A. Michael. “Understanding your student: Using the VARK model.” Journal of postgraduate medicine 60.2 (2014): 183.

Urval, Rathnakar P., et al. “Assessment of learning styles of undergraduate medical students using the VARK questionnaire and the influence of sex and academic performance.” Advances in physiology education 38.3 (2014): 216-220.

The Day we Received Amy’s Cerebral Palsy Diagnosis

There will be certain phrases people say that will never ever leave you.

I will always remember the following from our paediatrician: “Amy is a little girl that will face significant mobility issues and will have many challenges ahead of her. BUT think of how beamingly proud you’ll be when you see her using a standing frame for the first time.”

Now just think about that.

Imagine… I had set foot into the hospital that day naively expecting to be told that everything was going swimmingly and that we were doing a fantastic job.

To be told your daughter will need a standing frame is a huge shock when you weren’t even remotely expecting it.

I was then met with the phrase “spastic quadriplegic cerebral palsy”.

It was like a slap to the face; one of such severe magnitude that I barely even reacted. I expected to cry, scream or just run… but I sat there and just accepted it.

For months I had been saying to Phil “I’m so glad she doesn’t have cerebral palsy… a lot of kids that suffered Amy’s birth trauma end up with that. We are so lucky”.

Perhaps on some sub conscious level I knew it was the inevitable outcome.

I wanted the ground to swallow me up. I wanted to run away.

I wanted to go to the highest mountain and scream until I was drained of energy and could scream no more.

I wanted this all to go away. I wanted to protect my child. I wanted her to face no challenges.

The prospect of a standing frame had never even entered my mind. I think at that point in our journey with Amy being 6 months old, I sort of expected just a slight delay in her progress. Naïve I know!

Then as months went by it became more and more obvious that these challenges we are facing are here for the long haul.

I remember coming home and collapsing in the doorway and just crying the second I could shut the world out.

I spent the afternoon tube feeding a very refluxy and angry little baby and considering how I was going to tell Phil about the diagnosis. I waited until he had finished his tea.

I could barely get the words out. I distinctly remember where we were sat and how he reacted.

That was a sad night.

He took the next day off work so we could just soak in what we had been told.

It has been over 6 months since that original news… and the standing frame arrived today!!

Amy has her little shoes at the ready and we are very excited for Thursday when she tries it for the first time with our fantastic physio.

Our doctor was right… I WILL be beaming with pride even though I do suspect she will protest, shout and eventually have a face that resembles a beetroot.

We have learned to celebrate EVERY achievement and when we look back we realise just how incredibly far our little girl has come.

There are good days and bad days.

There are days when I am super mum and I will take on the world for my little girl and embrace every therapy going whilst simultaneously doing “normal mum” stuff.

Equally there are also days when I really need my friends and family or I just need to be alone and thoughtful.

There are the days where I want to cry, the days I feel cheated, fatigued, worried, destroyed etc… But it passes!

Seeing the smile on Amy’s face makes it all okay. I am so glad they told us about Amy’s cerebral palsy as early as they did as I use it as a positive.

I know about so many alternative therapies, I know about how our different therapies are helping her achieve her full potential, and I know of the challenges ahead.

The best part is being able to network with other parents in a similar situation and share tips, seek advice and sometimes just have a good whinge about it all.

A good friend of mine once said “quality of life is not defined by ability” it is defined by being loved and being able to love.

We definitely have that and that’s more important than any diagnosis.

No Longer Alone:  Finding Another SMS Family

Rare is an understatement.

When he was diagnosed at 18 months, there were less than a thousand known cases. And I mean in the entire world.

“What are his symptoms?” she persisted.

“Well, the most difficult part of it is an inverted sleep cycle,” Charlie told her.

She nodded, but few people really understand how screwy the sleep pattern is for people born with Smith-Magenis Syndrome (called SMS).

“Garrett’s body releases melatonin during the daytime, so he falls asleep easily.” I felt the need to tell her just how bad our life was…that it was more than “he took a little nap” kind of inconvenience.

“He falls asleep on the bus ride to school. He falls asleep while eating his peanut butter sandwich at lunch. He can even fall asleep, standing up and brushing his teeth at bedtime.

But the really weird part is that he is unable to stay asleep.” She kept nodding in an understanding way. It was time for me to pull out the big one.

“Last November, Garrett woke up in middle of the night. It was 3am and the rest of our family did not hear him get up and walk out the front door.

Our neighbor was leaving for work and he noticed Garrett standing in the driveway.” “Wow.” she exclaimed. “What did you do?”

“We attached alarms on the all doors and installed a motion detector in the hallway.

Garrett even wears a transmitter bracelet from the Sheriff’s Department. If we ever really lost him, they could use that transmitter to narrow the search.”

I could feel that familiar lump in my throat and I blinked back the tears. I tried to remind myself that I did not have to be on the defensive.

What could be a more supportive environment than a “support group”?

Still, it was difficult to admit that we needed help from strangers just to keep our son safe.

I took a deep breath. “Another challenge of SMS is the result of a decreased sensitivity to pain. This may sound horrific,” I tried to warn her, “but many of these children bang their heads, bite their hands and even tear off their fingernails.”

The tears began to well up in her eyes. She did not ask any more questions, but I was on a roll. “Also, we deal with explosive outbursts, obsession and compulsion issues, and autistic-like aversions.

He gets very upset if “the routine” has an unexpected change.”

“Zan does that,” she whispered. “This sounds so much like my daughter’s son.”

What are the chances?

Was it possible that in our town of 65,000 people there could be two SMS children?

Another SMS mom I could meet for coffee, rant on the phone or ask for advice? It seemed too good to be true.

Our first pediatrician insisted we were nervous parents, but Charlie and I could not shake the uneasy feeling something was wrong with our baby.

When Garrett was eighteen months old and not yet walking, we found a doctor who took our concerns seriously.

The new pediatrician ordered genetic testing at our very first appointment and we received the results three weeks later. A “FISH test” of Garrett’s DNA found a tiny deletion in the 17th chromosome.

The diagnosis was Smith-Magenis Syndrome. Garrett’s “normal” life ended in that exam room but, worst of all, our family was completely alone.

We spent months feeling sorry for ourselves.

Finally, we found a website dedicated to Smith-Magenis Syndrome that was sponsored by PRISMS (Parents and Researchers Interested in SMS), an organization that families affected by SMS can turn to for support and understanding about the struggles unique to our lives.

PRISMS had produced a DVD called “The SMS Journey” with footage of other SMS children exhibiting Garrett’s behaviors. Finally, proof it was not our poor parenting skills!

Charlie had wanted to share that PRISMS video with our local autism support group. Naturally, this began a discussion about Smith-Magenis Syndrome and the questions from Zan’s grandmother.

She recognized her grandson in Garrett’s SMS features: broad forehead, wide nose and cherub cheeks.

With shaking hands, I gave this lady the DVD to take to her daughter and I wrote my phone number on the back of the PRISMS brochure.

I always carry a pamphlet in my purse for any new therapist, specialist or educator entering into Garrett’s life. T

he following week, Charlie and I brought Garrett to the Dream Soccer Tournament at the park.

We knew Zan would be there and we heard him cheering as soon as we stepped out of our minivan. It was the same raspy “SMS voice” so familiar in our home.

I gasped and looked over at Charlie. “Don’t scare the parents off!” he laughed at me.

It was hard to contain my excitement when I finally saw Zan and knew without a doubt he had SMS.

Zan was walking across the field with that “SMS walk”, an unusual gait where the hips swing out with each step. Zan was laughing as he slapped his hands together.

It was a glimpse of Garrett six years into the future. As we walked towards the shelter house, I wondered how best to approach a complete stranger with my unsolicited medical advice.

Thankfully, I felt an instant connection to Zan’s mom, Robyn. She had already gone to the PRISMS website and knew as much about SMS as Charlie and me!

“I left the PRISMS pamphlet on the kitchen table,” Robyn told me. “Zan picked it up and pointed to the photo of a teenage boy and said, ‘Hey! That’s me!’ And it really DOES look like him. I’m in shock.

We have been looking for answers for so long.” Robyn said that she had just taken Zan to a geneticist six months earlier.

An expert had looked right into the face of Smith-Magenis Syndrome and had not recognized the symptoms.

I gave her the phone number at Columbus Children’s Hospital, the place of Garrett’s diagnosis. In the following weeks, Robyn waited anxiously for the test results.

She and I spoke on the phone daily. We discovered that Robyn had graduated from high school with three of my cousins.

For years, we went to the same hairdresser. At the time of Garrett’s diagnosis, our two families were living on the same road but at opposite ends of the county!

The only surprise that came with Zan’s SMS diagnosis was Robyn’s reaction to it. “Yes! My son has Smith-Magenis Syndrome!” she shouted into the phone. I couldn’t help but laugh.

“You don’t understand,” Robyn attempted to explain.

“This answers more than a decade of questions and self doubt.”

It seems the only thing harder than finding out your baby has Smith-Magenis syndrome is living thirteen years without that knowledge.

A New Normal

This family I’d dreamed of, what would it be now?

What would happen to our house, our daughter – my marriage?

Would I be able to work?

We, none of us, had signed up for this.

Were we strong enough to do it…Did we really want to do it?

It takes a long time, this journey to, not acceptance exactly, more a reconciliation with yourself.

You have to allow yourself time – time to adjust, time to grieve, time to re-align yourself into this new rather unexpected life.

It does get easier.

I found, at first, I didn’t want to talk about Alex, didn’t want him to define who I am, but who was I kidding?

He is such a part of me, such an influence on the way I am, the way I regard the world, that he needs putting out there every time.

‘My son is disabled’ – I let other people deal with it now, not me.

We have worked our life, woven it differently to accommodate his very different needs, so much so that we don’t even notice it sometimes.

I can no longer look at my life in that ‘Sliding Doors’ fashion – what if?

We are too far in, Alex is who he is and we are who we are.

And this is no bad place to be.

I have more patience now for people, for situations, because I’m aware that what is on the surface is not necessarily all there is.

I wait. See how things develop.

Alex is undiagnosed, which we are comfortable with and don’t think about often.

It’s harder for the outside world, no tick box to place us in.

I – we – are immensely grateful here to our support group – SWAN UK.

Here are the parents of all the undiagnosed children… we fit in.

We talk, we discuss ideas, we encourage those tiny achievements no one else might notice.

But we see, and we celebrate.

Knowing there are other people there in our situation, it’s invaluable, we aren’t alone.

Feeling that you are part of a group, a tribe – it buoys you up.

And with that confidence comes the will to take on the world again.

Slide back – in some way – to that position you never thought you’d reach.

It’s a new normal. But it’s our normal.

SPD Is Not Misbehaving

The truth is that no amount of behavior modification will cure SPD. We manage it with therapies and we avoid challenging situations but sometimes things will happen without notice.

Sometimes the place is too overwhelming or sometimes a smell or bright light set of a chain of events that unravel the child.

We use brushing techniques and weighted blankets and swings and squeezes.

We have chewies and fidgets and compression garments.

These things were foreign to me just a few years ago, but now they are as common as reminding the kids to wear their hats and gloves.

SPD is not a measure of one’s parenting techniques.

I have five children and I had been a Mom for over 10 years before we had a child with that diagnosis. Just as we wouldn’t tell people to just “get over” their broken bone or “be firm” to cure their chronic pain, we can’t discipline SPD.

What we see on the outside is not what the child is experiencing on the inside. It is not within their control to regain balance and calm.

SPD is hard for the parent AND hard for the child.

Public meltdowns are embarrassing but sometimes unavoidable. More education is needed to understand this disorder, but what’s needed most of all is compassion.