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

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

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. 

Just Push Through

 

When you are a kid, you want everything to come easy, if it’s too hard, you tend to go the other way, without lack of encouragement or ‘’pushing’’ gently from other sources. 

This is one of my greatest difficulties, with my back the way it is, and my learning challenges/work challenges.  

One of my new friends said one thing that will stick with me, I believe, and it is 

Just push through. 

It will help me now, in EVERYTHING.  

Why do we love the easy button so much?  

There are so many things I need to model for my daughter, and this is definitely one of them… 

Despite how you are feeling, you have to ignore it at times.  Not always possible, you also have to do things wisely still, and within the right boundaries.  

Getting up and going to work, when you can hardly move a muscle or every bone aches. 

When you feel depressed, force yourself out of bed to go and do AT LEAST ONE THING to feel productive and feel better all the way around.  

It is hard to push through headaches, this is one thing I know.  But, anything that you can push through - you gotta push.  

Certain things always need to get done, household, personal care, and family member care. Yardwork.  

We never want things to go like they are not being looked after.  

Just push through.  

Push through Covid. Push through supply issues. Push through personal needs, and household needs. Push through. 

When you love someone or something, you put all your needs aside at times, to do what’s needed for them.  

Just push through.  

A breakup, a scammer, a relationship let down.  A divorce, a job loss.  

                                 Just push through!

WE GOT THIS!  Life has been challenging for me, but I have accomplished MUCH recently - feeling proud helps you push through! 

***********************************


Courage doesn't always roar. Sometimes courage is the quiet voice at the end of the day saying 'I will try again tomorrow.' -Mary Anne Radmacher, American author and artist

Ask yourself this question: 'Will this matter a year from now?'--Richard Carlson, American psychotherapist and author of Don't Sweat the Small Stuff

“The best way out is always through.” Robert Frost

It does not matter how slowly you go so long as you do not stop.--Confucius (551-479 BC), philosopher

Written by Nahani Rose, August 2022

Living with 22q

Atle - Living with Emanuel Syndrome

We were living in Saskatoon, Canada. It was Good Friday, April 9th, 1993 when our Atle decided to come into this world. He was such an easy delivery and everything seemed fine. He looked perfect. No obvious abnormalities, no problems initially. I was a bit worried because he didn’t latch on well to the breast but his older brother also took a while to get the hang of it so it wasn’t a big concern. They told me that his blood sugar was low the next morning so we stayed an extra day. But he still didn’t seem to be able to latch. He would paste his tongue up to the roof of his mouth leaving no room for the nipple. My brilliant husband figured out how to use one of those pacifiers with the hole in the back for your finger to force the tongue down so that we could slip the nipple in and get him to eat. Breastfeeding was not going to happen for this one apparently. So, we went home with the formula a bit disappointed but no big deal.

At home we noticed that he ate very very slowly. Like over an hour for one of those mini 4-ounce bottles. He would completely exhaust himself with eating and fall asleep before he could finish. The next day I couldn’t wake him up at all. I undressed him, used a wet washcloth, even pinched him but couldn’t wake him up for more than a few minutes. Off to our trusted family doctor. There we discovered a huge inguinal hernia protruding through his abdominal wall. He was 10 days old and already having his first surgery. The other side popped out a few days later and his second surgery was at 30 days of age.

So, when he still didn’t have head control and my MD brother-in-law was getting concerned, we just thought “well, he’s had two surgeries, he’ll catch up”. During this time, we began to notice breathing problems. The first time he had pneumonia, he tested positive for RSV. A lot of kids get that so nothing unusual there. But then he got pneumonia again and again and he still didn’t have good head control so the hospital staff became concerned and ordered a head CT. I will never forget a young neurologist who informed us that our child had global brain atrophy and in a moment of spectacularly poor bedside manner asked us if we knew what “retarded” meant and, “Oh, by the way, we need the bed. You are discharged and have 20 minutes to clear the room.”

We had been told that these things just happen and we would likely never find out a reason. But a wonderful geneticist ran tests and we discovered that our child had partial trisomy 11:22 (as it was known at that time). My husband was determined to be the carrier and after speaking with family members and their test results, we were able to trace the carriers back five generations.

We started physical therapy, but Atle also was still eating very slowly, having frequent pneumonia and breathing difficulties. He was being hospitalized at least one week out of every month including a life-threatening bout with tracheitis. He was tested several times for aspiration during this period but the test was always negative.

A job opportunity took us from our home in Canada to Wisconsin when Atle was three. Our first week in our new home was quite eventful. Atle had his first seizure while in the bath and stopped breathing. Resuscitating your own child is something I pray you never need to do. He was flown by helicopter to UW Madison Children’s Hospital. I am still thankful for their wonderful and thorough staff. More tests were run and the aspiration was finally proven. Atle received his g-tube on his 5th birthday. He was 25 lbs. I remember the look of relief on his face when he was tube fed for the first time. Finally, he could be satisfied without pain. He had been hospitalized over 70 times at this point with pneumonia. Unfortunately, he also aspirates his own saliva so he is still at great risk.

At this point, we moved down to North Carolina. There have been many more hospitalizations since. It was discovered that he only has one kidney and as he grew, the kidney has not kept up so he is in stage 3 renal failure. The renal failure affected his bone density so he broke his arm, his ankle and he also has scoliosis and kyphosis. He was having reflux aspiration resulting in Nissen fundoplication surgery. He had malrotation of the gut that was repaired surgically. As well as numerous ear tube surgeries and a severe fungal infection of the ears.

Atle is currently 28 years old and has a comprehensive routine to maintain his lung and renal health. He uses a therapy vest to loosen mucous twice daily, four nebulizers twice daily, medications for blood pressure, seizures, prophylactic antibiotics, probiotics, hypothyroidism, hyperparathyroidism, calcium, vitamin D and we also carefully monitor his fluid intake. All of these treatments have been paying off. Up until a recent hospitalization for Covid in February he was two years hospital free!

But that is just half the story. The real story of Atle is how smart and fun he is. Atle walks but does not talk. He uses signs, an iPad and gestures to communicate and is remarkably talented and making sure he gets his point across. He loves animals and knows all of their ASL signs. He plays Miracle League baseball, rides horses and plays sled hockey. He can do puzzles, dribble a basketball and help with chores. He loves music and leads the clapping in church. He is basically famous in our town as I cannot take him anywhere without people knowing his name and saying hello!

Check out his videos to see how cool he is!