"I am not defined by Soto's syndrome."
If you swim, you gotta snorkel in Mexico
This is a story about a very special person in my life. My nephew, Connor Kelly, was born with a rare genetic disorder called Soto’s syndrome. Let’s get through the biology stuff and on to the story. It gets better after the first couple of paragraphs, I promise.
Soto’s syndrome (cerebral gigantism) causes a mutation in the NDS1 gene on chromosome 5 and occurs in 1 of every 10,000 to 14,000 newborns. The NSD1 gene provides the instructions for making the protein involved in normal growth and development. The genetic changes prevent one copy of the gene from producing any functional protein. It is autosomal dominant and only one copy of the mutant gene must be present. Approximately 95% of the cases involve a new mutation of the gene and occur in families with no history of the disorder.
Soto’s syndrome (cerebral gigantism) causes a mutation in the NDS1 gene on chromosome 5 and occurs in 1 of every 10,000 to 14,000 newborns. The NSD1 gene provides the instructions for making the protein involved in normal growth and development. The genetic changes prevent one copy of the gene from producing any functional protein. It is autosomal dominant and only one copy of the mutant gene must be present. Approximately 95% of the cases involve a new mutation of the gene and occur in families with no history of the disorder.
FISH analysis of the mutated NSD1 gene
Soto’s syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). People with Soto’s syndrome often have intellectual impairment, and most also have behavioral problems. Frequent behavioral issues include attention deficit hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Problems with speech and language are also common. Affected individuals often have problems with sound production, stuttering, and a monotone voice. Additionally, weak muscle tone (hypotonia) may delay other aspects of early development, particularly motor skills such as sitting and crawling. Other signs and symptoms of Soto’s syndrome can include an abnormal side-to-side curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing loss, and problems with vision. Some infants with this disorder experience yellowing of the skin and whites of the eyes (jaundice) and poor feeding. (http://ghr.nlm.nih.gov/condition/sotos-syndrome).
This list would scare any reasonable person. But, do not be afraid, read on. Connor’s head is longer and he has a somewhat pointy chin. He is developmentally delayed, and continues to have problems with his fine motor skills. I am seriously questioning the developmentally delayed part of this whole thing though because I think he’s pretty smart. He took algebra as a freshman, what’s that about? Connor can be clumsy at times but I think that even though this can be a symptom of Soto’s syndrome it just runs in our family. Connor also has scoliosis, another symptom of Soto’s. Let me tell you what he doesn’t have. No behavior problems, thank goodness! It’s quite the opposite in this case. He not monotone, that’s for sure, It always puts a smile on my face when he calls me and he’s excited about something and says “Aunt Kathy, guess what?”. He does however, like to be on time and likes things to be routine. He has learned to cope with being late because my sister is not as timely as she would like to be so he’s become a little more “go with flow”. I’ll explain the routine thing later.
Are you sure?
Oh, wait I forgot about the birth. Connor was born with a subdural subarachnoid hematoma. They thought he was having seizures and he couldn’t coordinate sucking and swallowing. That’s a bit of a problem when they can’t eat. Connor was transferred to Children’s Hospital in Denver and spent the next 5 weeks there with his mom. Connor was given g tube for feeding. When they got home, Jennifer would give him a pacifier while she fed him through the tube so that he would associate sucking and swallowing with eating. She started tracking how much from the bottle and, for lack of a better word, tube food he ate. She was determined that he would not have that damn tube for long. Can you image how horrifying it would be to be in 1st grade and have to use the tube during lunchtime? Who would want to sit with him? That’s a scary thought. The tube was removed at 18 months. Wait, I’m off track, back to the birth. They did genetic testing at the hospital and nothing comes back positive. Really, are you sure? What then? At 18 months Connor was diagnosed with severe scoliosis.
Oh, wait I forgot about the birth. Connor was born with a subdural subarachnoid hematoma. They thought he was having seizures and he couldn’t coordinate sucking and swallowing. That’s a bit of a problem when they can’t eat. Connor was transferred to Children’s Hospital in Denver and spent the next 5 weeks there with his mom. Connor was given g tube for feeding. When they got home, Jennifer would give him a pacifier while she fed him through the tube so that he would associate sucking and swallowing with eating. She started tracking how much from the bottle and, for lack of a better word, tube food he ate. She was determined that he would not have that damn tube for long. Can you image how horrifying it would be to be in 1st grade and have to use the tube during lunchtime? Who would want to sit with him? That’s a scary thought. The tube was removed at 18 months. Wait, I’m off track, back to the birth. They did genetic testing at the hospital and nothing comes back positive. Really, are you sure? What then? At 18 months Connor was diagnosed with severe scoliosis.
Scoliosis check...
If your child bends over and their back looks like this, run to an orthopedic doctor. Connor was diagnosed with scoliosis at 18 months old.
If your child bends over and their back looks like this, run to an orthopedic doctor. Connor was diagnosed with scoliosis at 18 months old.
What's wrong?
We've all got a hillbilly bone down deep inside
They spent 4 years battling feeding issues, ear infections, respiratory infections, and motor planning problems, speech and other physical problems. My sister is thinking; “What was wrong?... Our luck isn’t this bad?...Or is it?” Something was just not right. My other sister Bridget would go out to Fort Collins and help Jennifer when she really needed it. I like to think Bridget flies in like just like Underdog, only without the cape, to save the day and Jennifer’s sanity. She did it for me, she’s done it for Jen, and she’s done it for my brother Jeff. She is always there when you need help. Oh, I love my sisters. They’re both so amazing.
Another doctor?
Children's Hospital in Denver
At this point, Jennifer is going from doctor to doctor to doctor and to the speech therapist and the occupational therapist and so on and so on. You get the point. Connor has some palate issues and the even the dentist had a turn. At this point, I think she’s wondering if the orthodontist is going to be cute and funny because she gets to look forward to hanging out with him when Connors older. Connor’s 4 years old now and I guess it was time for the allergist. Everybody’s got to have their turn. So, my sister heads off to the allergist with Connor and most likely his little sister Megan, in tow. Another doctor, yeah! Anyway, she ended up really liking the guy. The doctor asked Jennifer “what syndrome does your son have?” Jennifer replied “he doesn’t have a syndrome, he has cerebral palsy.” “No he doesn’t, you don’t have a child with all these problems and not have a syndrome” he replied. Something can explain this? Do tell. They waited 2 long months for the doctor appointment with the geneticist. When the day finally comes and the doctor looked at Connor, she handed Jennifer a copy of “Smith’s Recognizable Patterns of Human Malformation”. Smith's Recognizable Patterns of Human Deformation is the only book devoted to the diagnosis and management of birth defects resulting from mechanical forces in late gestation. It provides you with the evidenced-based guidance needed for early, timely intervention in an effective manner to avoid long-term adverse secondary consequences. Now, this was the same book that was next to Connor’s bed in Children’s Hospital and no one told her she should look at it. She maybe coulda shoulda known earlier, hindsight is 20/20, hers is 20/16. When it comes to luck, less is not more. The doctor told my sister she had two choices, Soto’s syndrome or Marshall-Smith. Rare disorders such as Soto’s syndrome are defined by characteristics. A minimum number of characteristics must be met in order to be diagnosed with that syndrome. Connor fit the bill and had classic Soto’s syndrome. Finally, we have a diagnosis! Now comes the question “What the hell is Sotos syndrome?”
On a mission...
Jennifer started to learn everything there was to know. She attended conferences and support groups. They got old quick kind of quick. She got the information and then got out of there. You would not believe what those parents let their kids get away with! Really? You have got to be kidding me? There was no way she was going to put up with that shit from Connor. Excuse me: Soto’s syndrome or not, that just wasn’t working for her. She tells a story about one Sotos syndrome conference when there was a little Sotos boy in a wheelchair near the entrance. He’s is in that chair just moaning and moaning. People with Sotos can range from high functioning to non-verbal and dependent. So, this mother is talking to the daycare people about whatever, and Jenny walks by that kid and she looks at him and smiles and says “you faker”. The little kid smiles back and continues to moan for attention, he knew just what he was doing and it was working for him. Apparently he was pretty smart too. At her very first conference she sat across the table from an adult woman with Soto’s syndrome. Jennifer started to chat with her and ask her questions. If curiosity killed the cat, Jennifer would not be with us today. Jennifer askes “when did you learn to tie your shoes?” and the woman replied with confidence “I don’t tie my shoes, I have Soto’s syndrome”. Really? Nooooooo!!!! This cannot be happening... Some people chose to limit themselves because of this disorder. Jennifer was determined that Connor was not going down that road. She promptly went home and taught him how to tie his shoes, which of course took some time. Connor doesn't always learn as quickly as other people. Soto’s syndrome would not be used as an excuse for Connor’s inability to accomplish anything. Jennifer didn’t tell Connor that he had Soto’s syndrome until he was 13 years old. Why did he need to know? As far as everyone was concerned, he was just fine.
Connor still loves animals.
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Hangin out at with the firemen!
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Connor at Homecoming 2012 :)
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It's not mission impossible!
Aunt Bridget and Connor after back surgery.
When Connor was 5 she quit her job to spend time attending to Connor’s needs, which included all those doctor, speech, physical and occupation therapy appointments and so on.... Their medical insurance only covered $500 of durable medical equipment per year. At this time, between Connor’s severe scoliosis (C5 lumbar) and his accelerated growth, he needed a between 2 and 3 new back braces a year at a cost of $1800 each. Jennifer spent all of her savings on medical equipment for Connor. They weren’t rich by any means, and now how were they going to pay for those back braces? At this point, Jennifer became aware of the Shiner’s organization and called them for help. They have been a godsend and have provided back braces, medical assistance and transportation at no cost to her. Connor has had over 10 surgeries to correct numerous problems associated with Soto’s syndrome. He had surgery a couple of years ago to insert a rod in his back to straighten his spine and is doing wonderfully. Now, here comes Underdog, Bridget flew out to help save the day, and Jennifer’s sanity. I’ll come running…you’ve got a friend…. She'll do that for any of us when we need her. She'll fly out to help Jenny move but that comes later in the story.
I'm a regular kid
Because Connor is of average intelligence, he was in a regular classroom from the time that he was in kindergarten. When he was going to enter junior high school, Jennifer found out that there was no inclusion program at his new school. He was going to get to go to a “special” school. Over her dead body. She cried in the parking lot and then went home and told her husband that they were moving. She wanted Connor to go to Preston Middle School so they moved. I guess later came sooner than I thought. Out comes Bridget to help Jenny move. She saves the day, and Jennifer’s sanity, again. I just love my sisters.
Jennifer’s words, “You have to be able to tap into his potential”.
Connor running track with Speical Olympics
When Connor was 13 he started to notice that his sister could do things that he couldn’t or that she had an easier time doing it. It was time and the timing was perfect. Connor was taking biology and his class was on the genetics unit. My sister and Doug sat Connor down and told him that he had Soto’s syndrome. My sister literally told Connor that his 5th chromosome was all jacked up.Then Connor asks “Is that why I am so tall? Yes. And my arms are so long? Yes. And my feet are so big? Yes. And why I have scoliosis?” Yes. At that point, it all made sense to Connor. Ok, that was it, he was very upset. How would you feel if you were just finding out at 13 that you were different? My sister, the ultimate optimist, brings up the bright side. Connor, you can play in Special Olympics. Yes, there is a silver lining, thank God. That was the hook and he took the bait. It worked!! Then, the world was good again. I don't know if you've noticed but my sister is really funny, or at least she thinks she is. I feel the same way about myself. Another birth defect.
Do ya wanna....?
Connor rides a mechanical bull!
.Jennifer has always tried to offer Connor every opportunity available. If anyone told her that Connor couldn’t do something, both she and Connor would prove them wrong. She spent 2 summers running alongside Connor while he rode his bike until he could do it himself. Here’s the funny story about routine and change I mentioned earlier. Sotos syndrome can be similar to autism. Connor hated, absolutely hated change. He just flat out plain didn’t like it. Well buddy, my sister thought, the world doesn’t work like that and apparently she thought there’s no time like the present to teach him. So, just for fun, not really, about 3 or 4 times a year she would move his room around. You ask, what happens when you move the room around for a kid with Sotos which is similar to autism? They throw a fit the first, second, third, forth...time you do it. Connor hated it and would scream and throw himself on the floor. It took a while, but it worked like a charm. Connor can deal with the changes around him in his environment. That's a life skill. I don't know Connor thinks it's funny now, probably not. That's ok, my sister and I can laugh about it. She would read to him aloud to help him with his reading skills. He reads at an 8th grade level and is always improving. When he was young he loved animals so they would spend time at the zoo and when the opportunity arose for a zoo sleepover, she jumped on it. Whatever she could expose him to, she would. He was going to have the same experience as everyone else. Did I tell you that he hunts and has actually shot a wild turkey, a deer, and an elk? Apparently someone forgot to tell Connor they’re moving targets.
Sports Authority
Brave Connor roots for Pittsburg at a Denver game.
Connor loves sports and can spout off stats like an ESPN newscaster. He was able to play on the recreational sports teams when he was young. When he was 7 years old, he played on a baseball team that was really good. It was so refreshing; the kids welcomed him, parents welcomed him and everybody cheered him on. I was lucky enough to be in Colorado to see his best game of all time. His dream was to make it around the bases. So Connor is at bat, and he makes it to first base, and then because of some divine intervention and a number of errors from the other team and, he made it around all the bases to home plate and scored the winning run for the championship. Connor was the hero and my sister and I cried we were so proud. Everyone was cheering. That was the best. He couldn’t play sports when he was older because of that darn motor skill problem that he has. Special Olympics has offered him the opportunity to play sports at an older age. He participates in both basketball and track. He has participated in a couple of training camps with the Denver Nuggets. I was lucky enough to be able to go watch.
Strenthening your arms is hard work
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That's a long shot to the hoop
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High School is good
Connor is now sophomore at Fossil Ridge High School. He manages both the football and track teams lettered as a freshman managing the football team. With the help of an IEP (Individualized Educational Program) he is taking all of the required courses including Algebra. He has a person who takes notes for him due to his poor motor skills. He still has difficultly writing and always will. See why I am having a problem with the developmentally delayed thing? Connor and I must both have a problem with spatial concepts because I’m having a hard time grasping why people would think that he’s different. He always tries to do his best and gives it his all.
Soar like an Eagle
Connor is in the process of completing his Eagle Scout project. Connor decided that for his project he would implement the “Spread the word to end the word” campaign in every middle school in the Poudre School District. Unfortunately, there was one middle school holdout, but he added an elementary school and two high schools. The holdout has asked to remain anonymous. The national campaign is designed to end the use of the word retard or retarded in an insulting manner. People sign pledge banners and agree not to use the R word. He provided the schools with information and t-shirts, wristbands, and pledge banners to “spread the word”. He created a bit of a buzz and got a lot of publicity about the campaign. He’s been on television and in the newspaper. I think this must have been part of his marketing strategy all along.
"SPREAD THE WORD TO END THE WORD"
What? Help me Spread the Word
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I got this guy!
And these two!!
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Look the whole team too. It's an epidemic!
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R-Word Campaign and Project Unify Public Service Announcements
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2012 Dorothy Lasley Memorial Award Recipient
Connor Kelly
“There few things more exciting that seeing a young person pursue something with passion and that makes this year's presentation of the Dorothy Lasley Memorial Award especially fulfilling. Dorothy was a pioneer; let me introduce you to another. Connor Kelly is a sophomore at Fossil Ridge High School and a young man bound for big things. Being born with Soto’s syndrome might be seen as a disability, but for Connor it has simply given focus to the more important things wired into his DNA, things like strength, courage and determination.
You might have heard of 'Spread the Word to End the Word', an initiative to challenge all people to take a pledge to eliminate the use of the r-word from their personal vocabulary. The cumulative aim is to strike the word from our national discourse, but big changes take a lot of work. Not one to be daunted by hard things, Connor has embraced the cause and turned it into not just a Boy Scout project, but a one-man crusade against disrespect. He has given interviews, appeared in the Coloradoan and Denver Post and provided training to every willing high school and middle school in the Poudre School District. He has been a featured panelist at the Human Relations Commission Anti-Bullying Summit and is a continuing inspiration to the Commission on Disability. There are some r-words that apply to Connor: resolute, relentless, and remarkable. Commission on Disability Chairperson Jeff Coon rightly calls Connor the 'ultimate self-advocate.' Indeed, in that arena Connor more than excels. He is an advocate for himself, for his peers, for his community, for his generation. Connor Kelly is without doubt a World-Changer.”
You might have heard of 'Spread the Word to End the Word', an initiative to challenge all people to take a pledge to eliminate the use of the r-word from their personal vocabulary. The cumulative aim is to strike the word from our national discourse, but big changes take a lot of work. Not one to be daunted by hard things, Connor has embraced the cause and turned it into not just a Boy Scout project, but a one-man crusade against disrespect. He has given interviews, appeared in the Coloradoan and Denver Post and provided training to every willing high school and middle school in the Poudre School District. He has been a featured panelist at the Human Relations Commission Anti-Bullying Summit and is a continuing inspiration to the Commission on Disability. There are some r-words that apply to Connor: resolute, relentless, and remarkable. Commission on Disability Chairperson Jeff Coon rightly calls Connor the 'ultimate self-advocate.' Indeed, in that arena Connor more than excels. He is an advocate for himself, for his peers, for his community, for his generation. Connor Kelly is without doubt a World-Changer.”
"I am not defined by Soto’s syndrome," the Fossil Ridge High School freshman said. "If someone tells me I can't do anything, I work extra hard to prove them wrong." And he does, time and time again.
I am convinced that without my sister’s love, patience, perseverance and common sense, yes common sense, Connor would not be the amazing young man that he is today. My sister is a truly amazing person and mother. When I think of Connor, I get this warm fuzzy feeling inside, I smile and I just want to raise my hands in the air and yell at the top of my lungs “I love you Connor Kelly”. I am honored to have this very special person in my life.