This is a summary of the paths that led to finding a support system for our son Steven, who has Emanuel Syndrome. Steven is now 28 years old.
In The Beginning:
On the night of Steven's birth, March 18, 1993, we had no expectation of any surprises. There had been several early miscarriages between our second son and Steven. As a result we had been referred for genetic testing in 1991 to McMaster Hospital, Hamilton, Ontario, Canada.
Once the genetics results were available, we met with a Genetics Counselor. It was at this appointment that we learned my wife was a balanced carrier of ES (at that time called “partial translocation 11-22”). We were advised that the miscarriages were a natural function of selection – that the miscarried fetuses had the unbalanced anomaly. We asked if there was any chance that such a fetus could develop to full term. We were advised that there was absolutely no chance of this occurring – that such a fetus could never fully develop due to extreme malformation, missing organs, etc. We were told to keep trying and enjoy our next child when the time came. We later learned that this counsellor was well past retirement, but had been a renowned pioneer in genetics and was helping out by doing a little counselling.
Steven came into this world, just after midnight on March 18, 1993. His was a normal natural birth, although a bit slow to respond and lower Apgar than his brothers had been. Our family GP who had delivered Steven suggested we both get a good night's sleep and that the baby would be well cared for in the nursery. He said he would meet us the next morning at 9:30am.
The 9:30 meeting revealed that our GP had spent most of the night researching, ordering tests, reviewing results, and consulting with specialists. He explained that Steven had genetic markers: ear pits, micro-penis, low-set nipples and that it was likely he had the unbalanced genetic anomaly inherited from his Mother. Steven also had a cleft of the soft palate which would require corrective surgery before the age of one. On the positive side, Steven had all his organs and they were functioning properly.
Our GP then explained that this genetic anomaly had no known surviving cases- there would be no handbook to tell us what to expect regarding our baby's development, the severity of his disabilities or his life expectancy.
However, our GP did give us one piece of advice that still rings true today: Allow Steven to show you what he is capable of.
The Early Years:
We had a follow-up with the Genetics Lab at McMaster when Steven was a few weeks old. It was a different Genetics Counselor this time. He started off the conversation with “What were you people thinking?”. We were taken aback and defended ourselves as best we could. In the end, he apologized for the incorrect information we had been given by the previous Genetics Counselor. In some cultures, we might have chosen to take legal action, but we decided that it would not change Steven, and moved forward with as positive an attitude as we could muster.
Feeding an infant with a cleft palate is a tricky exercise, Steven could not suck liquid from a nipple. It took some experimentation, but eventually, Steven began to gain weight using a squeeze bottle with a very soft nipple. However, he was very vulnerable to pulmonary aspiration- inhaling liquid into his lungs. Within weeks Steven suffered from lung infections due to aspiration, and resulting fevers. Due to his unique cleft and sinus configuration, formula and saliva also made it's way into his inner ears through his eustachian tubes, resulting in severe ear and sinus infections. During his first 4 years, Steven was taking antibiotics on a constant basis.
Twice in Steven's early life, I had to restrain him so the Pediatrician could perform lumbar punctures to rule out meningitis. At one point Steven had mastoiditis, in which the skull around his ear became infected, and had to be surgically scraped out.
Steven also suffered low threshold seizures once his temperature reached 102F (38.9C).
The early years were difficult ones.
Eventually, we learned that Steven has a very weak immune system, and for nearly 25 years now, he has received monthly IV infusions of the blood product Immuno-Gammaglobulin. Thankfully the IVIG has made his life much better and with only rare infections.
Another major medical challenge for Steven has been Esophageal and Intestinal muscle spasms. The muscles that move food and waste downward in his system can go into extremely painful spasms, which can result in food and acid from his stomach moving upward into his esophagus.
The discomfort of the acid reflux is not nearly as intense as the pain of the spasms themselves. However, through medication and careful monitoring Steven's suffering has been kept under control.
Steven began walking independently at the age of 8. He wears rigid orthotics to support weak feet and ankles (to below his knees). Steven also wears a back brace for support due to severe scoliosis (lateral spinal curve) and kyphosis (forward spinal curve).
He has several congenitally malformed vertebrae at the mid-spine and in his neck. In the last three years, Steven has begun suffering seizures, originally one every 6 months, and now on a two to three-month cycle. He is now taking anti-seizure medication for his epilepsy.
Aside from what I have written so far, I have to acknowledge that we had two other children in our home who took on the challenge of Steven as bravely and as lovingly as we did. Steven went to a lot of his brother's hockey and soccer games, scouting meetings and events, Air Cadets, band concerts and school functions. But there was a divide that occurred in that one parent was caring for Steven while the other gave attention to his brothers. It was rarely Mom and Dad together even from an early stage. We were fortunate that my Mother was able to assist us at short notice, especially in the early years of Steven's life.
When Steven was just over two months old, we noticed that he was not responding to sound while we attended a local parade. We tested this ourselves by banging pots while he was awake or asleep, and he didn't even flinch. Later we had his hearing tested and it was discovered that he had very little hearing – if any at all. Suddenly our practiced techniques of communication were of no benefit to our youngest son. Talking, singing, laughter, reading, records and tapes were not going to benefit our baby. Steven's deafness was a hurdle that seemed unfair and daunting.
Fortunately, we made connections with preschool services for the deaf through the Provincial School for the Deaf in Milton, Ontario. For nearly three years Steven had an in-home Teacher who would come bi-weekly to spend a morning with Steven. This Teacher was deaf too, and she insisted that we begin ASL sign language classes immediately and begin signing with Steven (and with her) immediately. In-home sign language classes were arranged by the School, and we slowly began to improve our vocabulary.
Steven's brothers also picked up sign language from the lessons we were taking. We all worked really hard to include signing in our home.
However with everything else going on with our young family and Steven's poor health being a constant strain- our efforts to be really great at sign language never really happened. For the most part, we were identifying things for him, letting him know what might be coming next (time for supper, time for a bath, want a drink etc). It didn't help that Steven never really responded to our signing efforts. Eventually, he was fitted with hearing aids of the highest available amplification. It was described to us that with these hearing aids at their maximum setting and Steven seated beside a jet engine at its loudest – he might detect some sound. We eventually learned that the tiny chain of bones in Steven's inner ears are abnormally formed and do not transmit sound at all, so we stopped using the hearing aids.
When Steven was two years old we enrolled him in a preschool class for deaf children run by our local public school board. That this program existed at all was a tribute to many local parents of deaf children, who had advocated very strongly for such a program to be in existence. Steven was not a typical two-year-old. He had poor muscle tone, could barely roll over, could not stand, and could only bear weight on his feet while in a standing frame. Although we were signing constantly with him and he was in a signing classroom environment, Steven only rarely would attempt to sign back to us. His poor muscle coordination impeded his ability to sign. There were concerns that he might be injured by the more rowdy two-year-olds in the class, but in fact, the other children were very gentle with him and accepting. The teacher located a two-person standing frame with a play surface in-between the two frames. Steven would be strapped in at one end his classmates took turns at the other end. This is an example of accommodations that were made for Steven, and that the other children accepted him.
By this time Steven was wearing prescription eyeglasses, both to strengthen a “lazy eye” and to properly focus visual input to the back of his eyes. The lens over the strong eye was patched to force the weaker one to work harder.
It was suggested to us by his Teacher of the deaf that Steven's overall vision might be more impaired than our Optometrist was capable of detecting.
An appointment at the University of Waterloo's Low Vision Clinic verified this. Steven was not only deaf but legally blind as well. The point at which Steven's optic nerves connect to his eyes has significant abnormalities – congenital optic nerve atrophy.
The immediate result of this dual diagnosis was that the support network from The School for the Deaf had to immediately terminate support both for our family and for Steven.
Not only did we feel overwhelmed (again), but also abandoned.
Steven's new support network was from the W. Ross MacDonald School for the Blind and Deaf-Blind in Brantford, Ontario (WRMS). We quickly learned that having a dual-sensory disability does not come with an increase of support.
The “Deaf Community” in Ontario is large in population and has a strong political lobby. There was a lot of Government money streaming towards an agenda that would recognize ASL as the official language of the deaf, and also towards “Defining Deaf People as a Distinct Cultural Entity”. One of the major achievements of this lobby has been the emergence of ASL interpreters on television etc.
To be deaf-blind in Ontario is another thing altogether. The deaf-blind community is very small in number. Many deaf-blind people also have additional disabilities including intellectual disabilities. The political lobby for deaf-blind people in Ontario simply cannot compete for Government or private financial support on the scale that the deaf community does.
That being said, WRMS did provide in-home teacher support on a monthly basis, to provide us with ideas for communication, and to observe Steven's response to visual stimulus. We were also put in touch with The Canadian Deaf-Blind Association(CDBA) – a parent-initiated organization supporting people who are deaf-blind. The CDBA is centred in Brantford, and many members have attended WRMS – and many of the board members over the years have included teachers and principals from the school as well as parents of deaf-blind children.
The CDBA has played a key role in Steven's life and in supporting our family.
The first time we felt that we truly “belonged” was at a CDBA parent retreat weekend, where we met many families with deaf-blind children of all ages. Many of the affected individuals are “deaf-blind-plus” - having additional disabilities beyond the obvious.
About this time Steven stopped wearing glasses, as the “lazy eye” was determined to be his attempt to focus, and because his visual intake was so impaired by the optic nerve issues. Steven's best field of vision is within 12” (30cm) of his face. He can detect movement up to 10 feet (3m). He also seems to be able to see things better by looking down and to the right or left. He is also able to distinguish colours.
School and beyond:
Steven remained in the public school system but attended a class for children with a variety of special needs. He and his class teacher were supported by the visits of the specialist teachers for the deaf-blind from WRMS, through their monthly visits during the school year.
You may be familiar with Interpreters for the Deaf – someone who can translate spoken words to sign language for the hearing impaired. A Deaf-Blind person is supported by an Intervenor, whose purpose is to enable a deaf-blind person to live independently, and to function in society. They provide communication through whatever means work best for that individual. The Intervention Model was founded through the work of Annie Sullivan, the person who enabled deaf-blind pioneer Helen Keller.
Intervention is a one-to-one support model, and Steven received Intervention during his primary and secondary school years.
During the summer vacation months, CDBA was able to provide funding to bridge in-home Intervention for Steven, intended to carry in-school fundamentals of communication to our home setting. We generally hired and trained university students for this role.
When Steven was 13, we were encouraged to have him attend WRMS's Residential School Program. This meant he would leave on a bus Sunday nights and return home Friday afternoons. He was housed in a dorm with other deaf-blind students and attended the school during the day. It was a very difficult decision for us to “let go” so Steven could attend Residential School. Keep in mind that then as now, Steven is very much like an infant. He is diapered, does not self-feed, and requires one-to-one support for all functions of his existence. He had one-to-one Intervention during the school day but shared support with other students while in residence.
Sadly Steven's health declined during the one semester he was there, to the point that he could not return to the school. Looking back, I realize that letting him go for that one semester provided us with a glimmer of hope for his future – we had decided that he would not live with us forever, that someday we would let him go.
Steven's high school years were spent in a Roman Catholic School. The support system was pretty much the same through those years, with the key exception that the Catholic system had a lot better funding, equipment, and a much more healthy attitude towards the individuals they supported.
When Steven was 19, we were contacted by CDBA with the news that there was an opening for him at a group home for the deaf-blind in Brantford. We knew that we could not turn down this opportunity, as openings with such organizations rarely occurred.
Steven stayed at that the Lions McInnes House group home for three years and then moved into a newly constructed apartment-style complex for the deaf-blind in Paris, Ontario.
A Word on Communication:
We communicate with Steven using ASL signs or signs adapted on his body, keeping signs simple, and within his field of vision. Steven also has used visual concrete cues, pictures, and tactile cues. He is a very easy-going person and has pretty much figured out the routines of his life.
Steven has ways of communicating things to us. He has a beautiful smile and a laugh that brightens any room. He will stamp his feet if he is tired of walking. He purses his lips and does a sucking motion if he is thirsty or hungry. He will yell and wring his hands if he is in distress from an esophageal spasm, and might also tap his chin or throat. He will clap if something excites him.
The most difficult issue with communication has been that Steven cannot describe to us where or how he is hurting. Many doctors and specialists have found this to be a difficult problem in diagnosis, and they have to rely on our observations of how Steven is acting in order to seek out the source of the problem(s).
Finding a place:
As you can imagine, much of our time raising Steven required us to be advocates for his rights, his health, his education, and his place in our society. The process had many positives and many negatives, but in the end, I feel we did the best that anyone could have done for Steven.
Over the years we have learned so much through connections with people and organizations. It was a remarkable evening when Stephanie St. Pierre called to introduce herself to us, and to share that there were other people with the same chromosome anomaly as Steven. Her connection with us helped diminish our feeling of being alone and has led to a lasting friendship.
Others that have played a role have been many, but include:
- The Canadian National Institute for the Blind
- Community Living Ontario
- Niagara Deaf and Hard of Hearing Association
- Niagara Children's Center
- Lake Joseph Camp for the Blind
- Lions McIinnes House
- McMaster Children's Hospital
- Canadian Deaf-Blind Association (Sensity)
It was only through a lot of networking that we found the organization that best supported Steven and ourselves, and where Steven belonged.
For us, the most important support network came about because of the “bonus” disabilities of deaf-blindness. Currently, Steven lives in a small apartment in Paris, Ontario, owned and operated by Sensity (formerly CDBA), and is supported 24-7 with Intervention.
The Canadian Deaf-Blind Association(CDBA) re-branded two years ago and is now named Sensity – Deaf-Blind and Sensory Support Network of Canada.
Scott Richards, Steven's dad.