A Favourite Christmas Memory of Steven

My favorite memory of Steven was the day he "let go" and walked independently for the first time. It was Christmas Eve, 22 years ago in the year 2000. We were spending Christmas with Sherry's family in Barrie, Ontario. There wasn't much space for Steven to move around in his walker at Grandma's house. He used a large square metal frame walker, with castors at the four corners of the base, and with a padded hoop around his chest. He was pretty good at scooting around our house in it, but Grandma's didn't have much space.

We bundled up and I drove over to the local shopping mall for some exercise. At that time Steven would walk pretty well as long as I held one hand or the other, or both. His balance was not great, and with the rigid AFO's his gait was quite akin to Frankenstein. I needed to be alert for any changes in grade, floor texture, floor colour, metal thresholds, sidewalk cracks and steps-because Steven was unable to distinguish such changes as being hazardous. When walking him and such a change was at hand, we would stop and provide a cue to step over or up carefully. Being Christmas Eve, the mall was quite busy with last-minute shoppers. After parking, Steven and I walked through the slushy parking lot and into the mall. Once inside I had him sit on a bench to remove his snow boots and coat and put them in the backpack.

Prior to that day, Steven had never taken independent steps. On this day, however, Steven was more inquisitive than usual. For some reason, the circular racks of clothing on sale for Christmas drew his attention, and he would pull me towards them so he could look closely at the colours, feel the textures, and touch the tags. If there was any back-lit signage he would pull me over to touch and tap them- such was his pleasure.

As we walked along I hoped to avoid a particular clothing rack that held some more expensive items and began leading Steven around it in a wide arc. Surprisingly, he shook away my hand and took two tentative steps toward his target before I got ahold of his hand again. I thought he had done this intentionally, but I wasn't sure.
It was getting close to suppertime so we worked our way back to the mall entrance. Along the way, he again shook away my hand to step toward something. This again seemed intentional, but I wasn't sure.

I parked Steven on the bench and got his snow boots, winter coat, and toque on him. Directly across from this bench was situated a brightly lit Jewelry store. As soon as I got Steven to his feet, he was off, all on his own, towards that store entrance. When he had crossed the tiled floor of the mall, he stopped at the point where the tile ended and the carpet of the Jewelry store began. Steven carefully raised his left foot and stepped onto the carpet, as if it may have represented a change in height. Steven then took three more careful independent steps and slapped his hands on the glass display case filled with bright, beautiful shining trinkets. He also put his drooling face on the glass and smiled with joy.
I will always remember that Christmas Eve as the day Steven achieved his greatest skill, and with it, the ability to explore, to choose, and to communicate his wishes.

Steven still wanders off when he's out with me, if only for a few steps on his own. His support workers get kind of freaked out when he wanders from the cart at Walmart or the grocery store. But for me, it still makes me so very proud and happy for Steven, and as long as he is able I want him to enjoy this taste of freedom.
Thank you Steven for this gift, my favorite Christmas memory.

Meet James: Living with Emanuel Syndrome

James Desmond Holt was born in 2015 on the dynamic day of the Autumn Equinox. He was so little and so beautiful! It was hard to believe that within the first 2 weeks of his life he would be diagnosed with Emmanuel Syndrome, poked and prodded by countless specialists, and undergo his first (of 9) surgeries. 

The first year involved weekly doctor appointments and therapy sessions. We watched our perfect boy grow, learn and experience this world. We vowed to do everything we could to help him reach his potential. But, the biggest surprise of all is how much we learned from him - unconditional love, strength, perseverance and our own potential with the human experience. 

He is the center of our hearts and desires, and without him we, his mom, dad and little sister, would not be a family. He is our fearless leader into the unknown, defying every single odd they throw at us and charming all that meet him. Today he not only walks and talks, but he runs, jumps, climbs, sings and dances. He laughs and shrieks, cries and sticks out his lower lip when he's sad. You know he loves you when he hugs you and blows you kisses.

-Karen

Meet Quin

My name is Quin. I have Emanuel syndrome. I am 6 years old and live with my dad, mom and little brother Stef in the Netherlands.

I'm always happy and I like to play with my family.

If you want you can follow me on Facebook and Instagram @Quintanis. There I share what I experience in daily life.

Love, Quin

New book recommendation: E Man

I am extremely proud to announce the release of my new book, E Man. This book is about my life-changing experience with Ethan Wall. I was Ethan‘s in-home behavior technician for New England ABA for three years.

Ethan Wall passed away on March 20, 2022, due to complications from Epilepsy in Phelan McDermid Syndrome.

This book goes into detail about our time working together, discussing his individualized strengths and weaknesses, along with what worked for him and what did not, and stories that deserve to be shared. It also has research regarding Phelan McDermid Syndrome, Autism, and Applied Behavior Analysis.

I am also pleased to announce that all profits will be donated to the Phelan McDermid Syndrome Foundation.

You are able to purchase this book using the link below.

Please share with family, friends, colleagues, etc. to help get the word out about this book.

The world is going to know Ethan Wall‘s name.

https://store.bookbaby.com/book/e-man

Sadie Zawisza 

Joseph Tyler Phillips - Living with Emanuel Syndrome

 

My son, Tyler, was born (in 1992) before his genetic abnormality was even named!
When looking for information, I kept finding the same single page of minimal information. Then I found a support group on the very young internet. All information at the time was in print in the form of newsletters.

Tyler was different health-wise than most other children featured in the newsletter. I treated him as normally as possible, even with his obvious issues of being nonverbal and developmental delays.

He was diagnosed with leukemia in 2004. He was treated and is a survivor!

Fast forward to Facebook! I was reunited with the support group! Seeing the many other children like Tyler from around the world has been so amazing!

Comparing, discussing, and knowing we are not alone has been amazing! What a special family we have!

Tyler is now 30 years old! What a true miracle he is!

Thanks to Chromosome 22 Central!

-Allyson

Boris - Living with Emanuel Syndrome

Boris

Boris was born full term by section and we didn't realize anything was wrong until he refused to eat and his cleft palate was noticed. A day later he was rushed for life-saving surgery as it was found he has an imperforate anus. It was the longest and scariest day in my life, but he made it. 

We spent two months in the hospital and together with the palate he was also diagnosed with PFO, micrognathia, stridor post-intubation, airway abnormalities, duplex kidneys, and undescended testicles. A month after his birth he was diagnosed with Emanuel syndrome which explained everything. Last year Boris was admitted to the hospital once to have his peg placed as he is entirely fed by it and we are waiting for three surgeries in near future. He is currently one year and three months old and can't roll or sit independently but he smiles daily and brightens our lives.

-Mom

Kaysen - Living with Emanuel Syndrome

My son is Kaysen he is 7 years old. Kaysen is the strongest person I know. Every day no matter what is going on with him he has a smile on his face. We were told at about 20 weeks Kaysen would have Emanuel syndrome and my world came crashing down, But Kaysen quickly taught me the meaning of life and showed me real love, resilience, strength, faith, and much more! Kaysen can walk assisted and take steps unassisted, he can eat by mouth, and can communicate using pictures and eye gaze when he wants of course. I might be biased, but he is also so beautiful inside and out. 

  

You can find Kaysen pretty much always with his leg crossed, laughing at Mickey Mouse, or trying to convince someone to spin him around for thrills. I thank God every day for my amazing little man. I chose to share Kaysen with the world to be able to help a mom overcome their diagnosis or to help a family find the right diagnosis.

-Tracy

Nobody ever says, " I wanna be a special needs mom."

Nobody ever says, " I wanna be a special needs mom."
Except me.
I remember when it happened.
I was in the grocery store and a little developmentally disabled boy came walking in with his mommy.
He was smiling so big, swinging his held hand as he walked,
And he looked like he didn't have a worry in the world.
I remember looking at my husband and telling him that if G-d chose to bless us with a special needs child I would happily be their mother.
And then my son was born and I forget all about that.
I remember how stiff he was when we brought him home and how I knew from the first night that there was something "wrong."
I remember laying awake all night wondering what was going to happen to him,
Would he ever be "normal?"
Would he walk? Would he talk?
I made his story my victimhood.
I wished he was normal.
I wept for the loss of the babyhood of my last child.
I grieved the hard life he would inevitably have.
And then one day something changed.
One day I remembered that moment in the grocery store with that smiling boy, and I realized.
THIS IS MY SON.
He is a child with special needs and he was always going to be that.
That is who HE is and who he came here to be.
My son doesn't have special needs,
A special needs child is MY SON.
And it was at that moment that everything changed.
Instead of looking at him (and me) as a victim I started looking at us as a team.
A couple of souls solving a puzzle.
A puzzle of how to live a fulfilled life.
I started to celebrate his inchstones instead of mourning milestones.
I started to be grateful for the skills he gained and not the ones he was still struggling with.
CAN I JUST TELL YOU WHAT A DIFFERENCE THAT MADE?
What a shift I had simply loving who he was without trying to make him into something I wished he was?
Something I felt reflected poorly on me?
I wish I could tell you I no longer struggle with his struggle, but it wouldn't be true.
I still catch myself wondering what it would be like if he sat up or if he could talk.
I still slip into worry about what will happen to him when we are gone...
But those times are now fewer and far between,
As we settle into this greatest adventure of our lives.
and it isn't parenting a special needs child.
It's loving what is...
and being grateful for the gift of the journey
and of this precious magical little man who "calls" me mom.

-AmyLee

Jordyn (Alexis) - Living with Cat Eye Syndrome

 

 

This is Jordyn. She is 17 years old and her new passion is making jewelry. She has struggled with health issues all her life. Currently, we are struggling with some mental health issues. She is the most amazing and stubborn person I know. If anyone can overcome challenges, it is this beautiful young lady.

-Mom

Living with 22q11.2 Deletion

Living with 22q11, short-term memory/processing issues. (Non-verbal learning disability). Going through ten years of family, being single, living by myself-being on disability (but have other stuff that helps somewhat) 

My friends and family that do support me the way I need it are my lifeline- as I have mentioned in previous posts. 

Also, the fact that I am VERY STUBBORN and HAVE A DAUGHTER. She is what keeps me moving.

Everything that’s hard is usually a communication thing, which is ten times better than ten years ago. How I process emotions and stress. I have to keep my stress levels low. 

Living with this condition is an uphill battle for me, only because I have scoliosis and what’s mentioned above, and I have a young face and heart and I get treated as a child, and like I don’t know anything. 

Certain things open the door for people to give their opinions, and advice when it isn’t being asked for and isn’t always needed. 

Learning issues (which are more like communication), I often struggle to figure this or that out depending on what it is. I need to be careful to keep myself out of certain environments because too much happening around me stresses me out. 

Depending on what it is. 

But I also love to learn new things and new skills, and this also keeps me going.  

The whole rigmarole of today’s expenses, living by myself in an amazing but expensive place, and the bills on top of it. Trying to get everything for ‘’entertaining’’ in the kitchen as well as other household needs in my rebuilding process - I desperately need more people (12 years by myself) including COVID. No room for travel. No room for a vehicle. As I keep saying. My support system and my daughter, I am grateful to have what I do. So glad that I came back to Red Deer, where I finally met someone local, and we are doing very well getting to know each other. 

I feel a little frazzled between bills and needing things personally but also household-wise because I have decluttered my whole life because of being in apartment settings. Thankfully, everyone is decluttering or purging which is helping me now…..  

I have an interesting time figuring out ‘’some’’ new things, but I do like problem-solving at least, and learning new skills. Sometimes you just need a second brain around, which is finally in the works for me and I am not doing everything ‘’mostly’’ by myself.  

Really, the key is having good support around. Staying close to the ones that do.

I had a habit of pushing things away before, and have learned now that I cannot do this unless it is a safety or self-care, or mental wellness issue. 

The key to survival, also, I believe, is not having anger or bitterness, or jealousy in the body/soul. I have had to work on this because of things and forever being thankful and grateful.  

Not taking anything, or ANYONE for granted.  

Where I am now, compared to ten years ago, I am proud of!

And I wouldn’t change anything for the world.  My daughter and where she is has helped my family function better, communicate better, and appreciate our differences more.  The pain is worth it sometimes. It changes us and makes everything better in the end. 

HOLD ON TO THE ONES YOU LOVE, ESPECIALLY IN THESE TIMES WITH OUR WORLD CHANGING. IF YOU CAN LIVE WITH OTHERS, DO SO. LIFE IS SO EXPENSIVE THESE DAYS.