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!

Spring, Growth, Community and the Bonus Years

 On March 21, 2022, Maia, the Goddess of Spring, turns 27 years old. 

She's been in our lives 22 years longer than predicted. These are the bonus years. And this girl - she continues to be amazing. 

The other day, we picked her up from her group home where she has lived since becoming an adult. Without words, she shared how happy she was. She giggled all the way to our house, she giggled at us, our dogs, and giggled all the way back to her home. When she is happy like that, my husband and I talk about it after she leaves, remarking on what a good day she had, and how amazing it is that she is still relatively healthy and happy.

I always get reflective around her birthday. As she gets older, this hasn't changed, but the way I viewed her birth and her life, has.

If you have read my book, you know how much I initially struggled with her diagnosis. But, I also reflect so often, especially when talking to all of my C22C friends (and they really are such good friends), just what all these bonus years have brought to me.

You see, we have this fantastic online community where all of us continue to celebrate our children's achievements, marvel at the video posts of kids with Emanuel syndrome who are signing or even using words, taking out the trash, using alternative communication, roller skating, putting on makeup, or singing and dancing, and I just think, wow. 

Our community also has hardships.

In the past weeks, we have lost two young adult members of our community, both of who were living with Emanuel Syndrome. We all feel these losses profoundly, as we would the loss of family members. 

Recently, with the war in Ukraine - we have rallied our community to help surround with love and hope - and some money - one of our families who is living there and whose son is sick. All of us are tied to their well-being, sick at heart for them, and sending them encouragement daily.

Our community is beautiful. It keeps me going. I do not know where I would be without this community - one Maia created for me - and which continues to grow and fill every corner of the globe - and my heart.

We are there for each other, to celebrate and hold each other up virtually around the world. Language doesn't matter - things get automatically translated. We are a beautiful, multicultural blend of families who come together from around the world to share a unique bond. Our children tie us together in a powerful way. We are family.

Maia. My heart and soul. Here she is, unassuming most days, making me marvel at her life and what her birth created in this world, 27 years later.

It has always been very present in the back of my mind just how fragile Maia's life is. But these are all bonus years, and I am grateful for them. Maia continues to make me reflect on how far I have come, how much she has experienced, how many good things she has brought to my life, and how important she is to our community.

For her birthday this year, Maia told us (through the process of elimination and choosing via online ordering) that she wanted new shoes. She's getting two pairs that flash and sparkle, fitting of her personality. She was positively grinning when we made the selections together.

On the occasion of Maia's 27th birthday, I wanted to share this excerpt from the end of my book which I wrote about her, 

Raising the Goddess of Spring: A guide for parents raising children with rare chromosome disorders. 

This really remains true for me and always will. 

About Maia, the Goddess of Spring

"As explained in Greek mythology, Maia was a spring goddess that represented the forces of growth and the return of the sun. This was my lesson. I did not know when I chose her name at the age of 13 what it meant; that Maia would be actually born on the first day of spring, and that she would embody this meaning for me. Maia prompted within me far more personal growth than I could have ever imagined when I first touched her tiny pink fingers and looked into her eyes through tears of despair. I was just a simple young woman when I became her mother, naive about the world, and about what a person can overcome, accomplish and embrace.

Maia was the gift to me that I didn’t fully appreciate for many years. She broke me, but yet, she made me. Maia forced me to conquer my fears, my anxiety, my feelings of inadequacy as a mother. She turned me into the person I have become and drove me to do more than I thought was possible. In that sense, she has had more power and influence as a human being over my life and the lives of so many others than I could have ever imagined. Maia is more than her diagnosis. She is a powerhouse, and I am proud of her. I am so proud of all that she has overcome and that she can still smile and melt your heart despite all of it. It may not happen right away, but your child, regardless of their diagnosis, will become the best part of who you are. You will come to see beyond their diagnosis and any grey clouds that colour your view in the early days. Your child will help you embrace, in all its glory, the return of the sun."

This book not only shares my journey with Maia, but includes stories and comments of 65 other members of our group, as well as information on the basic genetics of chromosome disorders. If you view the book on Amazon, there is a preview available with the table of contents. 

Please note that all proceeds from this book go directly to supporting Chromosome 22 Central. A growing community of amazing people. Thanks for taking the time to learn about my amazing daughter and for your ongoing support for the families of Chromosome 22 Central. 

-Stephanie

ONEIN14MILLION

HMM, THIS FEELS A BIT UNUSUAL: MY ADVICE FOR HEALTHCARE PROFESSIONALS WHEN DEALING WITH SOMETHING RARE

Joanna Holmes - BSc (Hons), MSc
Visit our C22C Crew page to learn about Joanna!

You may gather from the title of the blog that the condition my daughter is diagnosed with is not that common. There are about 500 people with Emanuel Syndrome (I’m going to refer to it as ES from now on) in the World, in Sept 2015 when I first did the (crude, non-statistical) sums that meant 1 in 14 million people worldwide with ES.

One of the challenges that the rarity of ES brings is there there are very few Doctors, Speech and Language Therapists, Physios or Teachers who have ever encountered it. Those who have can have usually met very few. When I meet professionals at Lucy’s appointments their approach varies. In my experience as a parent and formerly as a healthcare professional I think there are key things that help when dealing with something new and rare that help to get the best support in place for everyone.

Be honest

Say what you know and what you don’t. Most parents of children with a rare diagnosis don’t expect you to have heard of it. I don’t mind that you haven’t heard of it but suggesting you have without being able to give some evidence is likely to damage the trust I have in you. I recall being a little incredulous when one of Lucy’s consultants said she’d met 3 other young people with Emanuel Syndrome. I challenged her (in what I hope was no more than a curious tone): ‘I find that surprising’. She acknowledged it was unusual and described that she used to work at Great Ormond Street Hospital (for international readers info about that here http://www.gosh.nhs.uk), I accepted those creds and moved on. Let the family you’re supporting know what skills you do bring to the table. If you’re a Speech and Language Therapist for example it might go something like this ‘I’ve not met anyone with Emanuel Syndrome before so I’m looking forward to learning as we work together. I’ve worked with children who have difficulty with communication for other reasons and due to other syndromes though so we can talk about some of the things I’ve learnt are helpful and what might work for your family.’.

Allow rarity to be a foundation for hope and not fear

Over and over again when I’m talking to other parents we talk about hope and the sense that some healthcare professionals act in a way that feels to take that away. You do not have to give the worst-case scenario all of the time. It doesn’t not help me for it to be driven home that, although I hope she will speak that 80% of children with Emanuel Syndrome do not. I recall one appointment where I expressed hope that she would speak and the Doctor reiterated the statistic above again, just to make certain I knew the low odds of my hope being realized. I know that having an extra chromosome will affect Lucy’s development. I understand that with the change to her genetic code that things will be different. I have no idea however what she will do, whether she will speak or not, whether she will walk or not. What helps is when Lucy’s achievements are celebrated for themselves rather than measured against an arbitrary developmental yardstick or predicted based on minimal information. Think about the strength of the evidence you are using for your predictions. The fact that ES is so rare allows for this flexibility and for the unknown to be an avenue for excitement and exploring what’s possible for Lucy as she grows in the world. I’d like it if healthcare professionals joined me in the world of what’s unknown and therefore possible than dwelling predictions and prognoses based in limited information. Let me understand and come to accept that she may be in the 80% while fostering hope that she will be in the 20%.

Allow people with ES and their parents and carers to be the experts

Read what we bring you, look at the websites. If we’ve found something out on Facebook don’t dismiss it, be prepared to talk it over with us and work out if it might help us. Remember when it comes to ES we have access to a network much bigger than yours and we might well be more up to date on the evidence. Having our expertise about ES and even more importantly our own child gives us confidence too. Chances are you healthcare professionals have got a lot of things lined up for us to do, medicines and nutrition to provide, physiotherapy, putting of spica casts, using signs…. We need to feel we can do it. One of the biggest confidence boosts I had was from Lucy’s orthopedic surgeon who turned to a physio in one appointment and said ‘Lucy has Emanuel Syndrome, and if you want to hear more about that ask Mum, she’s the expert.’ I can’t tell you what it meant and the confidence it gave me.

When things are rare and unusual, when you’ve never seen it before and you’re unlikely to encounter it again really is the only avenue open is to be open be honest, share and learn from the people and families you work with. Learn together and enjoy the possibilities ahead.

Breathing Room

I have this young face.  It can be a good thing at times, not so good at other times. Some people think I cannot think for myself.  

I get ‘’very upset’’ when I am being directed or given advice in certain areas, without it being asked for.  So, on that note, my writings here may change a bit with that in mind!  

I know others probably get very sick of this too. We are all trying to survive in this world right now.  Being healthy, being happy, being our ‘’authentic or best selves.’’

However this looks, we have to do what ‘’we’’ want for our own self-care management. How this or that looks to ‘’others’’ really doesn’t matter. 

Self-awareness can be very painful at times. Everyone has the right to make their own choices by their ‘’own rules.’’ My young face, people forget that I have grown up and am not a child anymore.  

The ones who have known me a long time forget that I drive my OWN SHIP.  

I used to be a Health Care Aide, and one of the things about nursing is allowing ‘’independence’’ wherever it can be placed.

We all need breathing room; our own little bubble, so we can follow our own intuitions. Invisible yes, but now we all see and respect others' bubbles, more.    

Written by: Nahani Johnson  March 10/22

Living with 22q