Ellen was born in September of 1994 to learning disabled parents. It was decided to look into her chromosomes for various reasons. Someone with sharp eyes noticed chromosome 17 looked too short, keep in mind this was before FIDH array and CGH etc.. So this was all done through Karyotyping. They found SMS this way. Her birth parents were then tested and it was found she had inherited the deletion from her mother. Her mother was diagnosed after Ellen received her diagnosis.
Hazel (Ellen’s Mother, non birth parent) says she had Ellen when she was 13 months and she was number 3 of her 4 children. This was all before internet and google etc.. But hazel was able to find the SMS UK Foundation through Contact-A-Family now called Contact. She first met other parents in 1996 and again in 1999. In 1997 Ellen started school and amazingly there was another boy who also had SMS. Life continued without much targeted support with understanding the syndrome. They had a few rough years with sleep between the ages of 3-9. At 10 years old they received melatonin and saw an amazing difference with sleep patterns. By that time puberty was causing behavioral issues and noone had experience with SMS to assist. At 12 Ellen went to a camphill school as a residential pupil and that made a huge difference to her and their family. Hazel has always been a single parent and worked as a pediatric physician until she had her 4th and final child. In 2015 she asked for more up to date genetic testing. She states ” Imagine my shock when 2 other micro deletions also thought to be pathogenic. 15Q13.3 and 16P12.2 aswell as the 17P11.2(sms).”
Medically Ellen has had several operations, such as bilateral squints corrected at age 2, numerous sets of grommets, a spinal fusion at age 11. Her scoliosis appeared before she was 3 and was an S curve. The day before correction, her curves were 83°, they got corrected to a 42°. She also has bilateral bone, anchored hearing aids done several years apart, and has CVI, registered partially sighted.
Given all of this information about Ellen, she is still as beautiful and special as any other non SMS diagnosed individual is. Some of Ellen’s favorite things and memories her mother has with her are, Swimming in the middle of the day. Ellen walked at 22 months old, as well as saying “Mum” when she turned 3. The protectiveness and complete acceptance of her younger sister within days of her arriving as a 2 year old. She captivated every moment of her life thus far with beauty and grace, including how she coped with major surgery. She has so much love for her nieces and nephew. The perseverance she has to learn physical tasks is unremarkable. Her mother loves her compassion, her empathy, aswell as her sense of humor. Ellen’s love of life and contentment with life. She has many crafting abilities therefore their home is full of things she has made and are exhibited all over. Ellen is remarkable in her own special ways, and I was so lucky to be able to receive her story to share with others.
Lauren is a 27 year old female based in Northern Ireland she was diagnosed with SMS at age 22. Lauren lives at home with her mother whom reached out for a diagnosis when realizing Lauren was not behaving as other adults her age. She received her diagnosis in May of 2016, that result being SMS. Growing up Lauren had attended 3 schools, she claims it was fairly easy for her with minor complications but when she became a freshman in high school, it got a little harder for her. After roughly a week adapting to everything high school offers, she claims it got to be a lot easier for her. Lauren was able to pass all of her exams and classes, with no extra help in school, and is now enrolled in college, where she attends weekly classes in hopes to obtain a degree that will help towards a work life and her everyday independent skills.
As a child, Lauren was behind in her motor-skills, she was not crawling, walking or talking timely with her age. Lauren attended speech and language therapies as well as physical therapy when she was younger and her mother assisted with her growth along the way.
Some of Laurens favorite memories as a child were going on family holidays/vacations, and spending Saturdays with her great grandmother. Lauren says “My grandmother used to have all 12 of her kids around with their kids for afternoon tea, she was a woman who enjoyed having her family near all of the time”. Some of Laurens favorite things to do are singing, song-writing, and poetry writing. Laurens comfort foods consist of steak, and Bb-Q ribs. She loves sweets but despises caramel. Alongside caramel, some of Laurens dislikes are gelatin, video games, all insects but mainly spiders, clothing made from wool, lace, leather, silk or fleece, cats, rats and mice, and she also has a fear for heights.
When Lauren received her diagnosis for SMS, she claims to have felt no different but her mother was especially glad to receive the diagnosis for her daughter, though also claiming she felt it was far too late. By this time Laurens mother had gone through all of Laurens childhood and pre-teen into adulthood with constant wonder and concern for why Lauren acted, behaved and grew skill wise the way she did, all of those years. Laurens mother is now a parent representative for Northern Ireland on behalf of the SMS UK Foundation, working hard to help families and fellow SMS individuals understand her and Laurens story as well as helping guide others through their own journey. Lauren, like every human has hard days, rarely, but when they DO happen, she tends to break down but her mother always checks on her and makes sure she gets to feeling better with a cup of tea and a cookie before she naps away her hard day. The pandemic has been somewhat hard for her, she was homeschooled for 9 months last year and never got back to attending actual class until this past august. Lauren claims to have little friends outside of the SMS community, but she fails to realize WE ARE her friends, and she is so graciously loved and cherished by all of us.
“I would say to my younger self if I could, don’t ever be disappointed in your child. There will come a time where nothing they do will ever shock you. Expect the unexpected and try, everyday of their life, to find one thing that makes you smile. I can say hand on heart that Lauren has made me laugh at least once a day. She has made me smile EVERY day, and the love she radiates, keeps me going.”
My pregnancy with Arielle was not at all how I pictured my “first pregnancy” going.. It was very exhausting, I had given up my job as a childcare provider that I loved very much due to battling severe morning sickness and other complications. I had hypertension my entire pregnancy and was required stress tests at the end of every visit in my 3rd trimester. It was definitely not what I had envisioned for myself, but as far as her growth and development IN the womb, she was a very healthy baby.
I got to see her in 3D ultrasounds often, and there were times I would sit at home and watch back the videos taken of her at the appointments in absolute awe that the precious baby on my tv was the same little baby I was molding beneath my skin, every single day. I was building her fingers and toes, her little nose and all of her hair, and thanks to technology I got to witness it right before my eyes.
Labor
Labor with Arielle was much like the pregnancy, something I was not expecting. I was induced on March 16th at 7 in the morning due to hypertension getting out of hand and the doctors worrying about possible preeclampsia developing. I had an overwhelming amount of family with me the entire day at the hospital. Where most wish to have that support, it wasn’t as beautiful as some may assume. I felt distant from Arielle’s father, there was back and forth about who can and can’t be in the room at certain times, I wasn’t given privacy to actually feel all of the natural feelings that come with labor. I underwent 21+ hours in active labor, as I was nearing an emergency C-section, I started to dilate quicker than I had all day. I went from being stuck at 6cm for 2.5 hours to 10cm in 20 minutes after they announced my possible C-section. We always joke that Ari was comfy until overhearing she was going to get forced out unless she came soon, so she said “here I come” within a 20 minute span of the announcement. Birthing her was hard yet came to me so easy, she came out in 5 easy pushes but I did tear internally. She was so beautiful, born with bright blonde hair just like her daddy and piercing blue eyes, she was only 6lbs 1oz and her weight after birth dropped to 5lbs 8oz, the doctors had assumed while I was pregnant with her that she would have been well over 9lbs, so we were all in shock to say the least. She was in preemie clothes until roughly 2 months old and that’s when we slowly started realizing she was not growing the way she should have been.
Development
Arielles development from birth was not consistent with her age, at 4 months old she was unable to roll over, was not “cooing” or making sounds. She was not holding her head up, nor holding her bottle on her own and her growth was below the 1 percentile for both weight and height. She was put into physical therapy at 4 months old. At 6 months old she had her first sedated MRI scan of her brain due to her head being abnormally large when comparing to her body. When the results for her MRI came in, they had located fluid on her brain and a small cyst, which called for 2 future ultrasound scans of her brain before her 1st birthday. When she was 1.5 we went through a second sedated MRI to check the excess fluid and cyst to reveal both were still there but was no worry to the doctors due to no significant growth for either. Right before her second birthday her neurologist called for lab work, and this is where we did the genetic testing and came to conclude Arielles 17th chromosome had been deleted which in short meant the diagnosis was considered SMS or Smith-Magenis Syndrome. The relief that came over me when I received that phone call was indescribable. We waited 2 long years for those results but I had absolutely no idea what the diagnosis consisted of.
Before the diagnosis, Arielle was unable to walk, not speaking any words besides “dada”, she would bang her head on things when throwing fits, she would scream and cry all the time during those fits to where she was inconsolable. Arielle would fall asleep in the middle of eating but wouldn’t sleep throughout the night. She would wake up in the middle of the night and instead of taking a new bottle, getting her diaper changed and going back to sleep, she would want to stay up and it was nearly impossible for her to fall back asleep once she was awake. She would choke on food and had an awfully hard time with eating food, which made it difficult to keep weight on due to those troubles. Arielle would get constipated so severe as to needing to be hospitalized, which has now lead her to being on lifelong medication to control her bowl movements and indigestion problems. These are all common signs of SMS, but SMS is so rare! So the common issues she was experiencing could have very well led to other diagnosis possibilities. She had many signs pointing to something possibly being “wrong” with her we knew at a very young age, but soon after receiving her diagnosis, there was absolutely nothing “wrong” with her, and no matter what the diagnosis could have been or what was causing these differences in her, she was born beautiful in our eyes, and born beautifully different at that. She was born an SMS warrior.
Where is she now?
Now, Arielle is an older sister to her sweet irish twin Ryder, born a year and 10 days apart from Ari. She is also an older sister to her younger sister Willow, who was born 10.5 months after Ryder. She is the most amazing older sister! Arielle has always been so gentle with the other two since they were born but we were not prepared for her little brother to tower over her and become independent so quickly, which has created alot of trigger points for her. Ryder is very well behaved but he is a boy, a toddler boy at that, so he screams and jumps, climbs and runs, and you may be thinking “um…. every child does that??” but my boy moms know exactly what I mean. Ryder is reckless, he is rough, and tough and Arielle gets easily overwhelmed by his craziness BUT she loves him deeply, as any sister would.
Arielle is now walking without assistance, and was able to do so short after her second birthday, which means she no longer needs physical therapy!! She was in speech therapy but due to covid-19 regulations, they had no available in person therapists so I took her on with nothing but a heart of love and a passion for helping my girl, after many long hours of repetition, my baby girl can speak well over 20 words, she knows partial sign language, knows all of her colors and ABC’s, she can count to 5, she knows her animals and what sounds they make, she also sings to her favorite cartoon songs! She eats every meal with no complications, she also sleeps in her own room, in her own bed and she sleeps all night long with only 1-2 wake ups every so often for a refill of her sippy. YES I said sippy! Arielle previously would not let go of her bottle or her warm almond milk, it was very comforting for her but we slowly weaned her to water in a sippy cup which was a huge step for her in her development. She is slowly beginning to potty train, which has been one of the harder things for her to accomplish but we remain patient and understanding when she wishes to opt out of using the potty, though we try to give her treats and incentives to help her WANT to use it more, it doesnt always seem to work how we wish.
Behavioral wise, Arielle struggles alot within herself. She bangs her head on any surface and throws herself around when in the midst of a tantrum. She throws things, rips and breaks things and the one thing she does that breaks my heart the most is her pulling her hair out.. Arielle was born with semi short hair, as she got bigger it started to fall out on its own, as alot of babies hair does, and then I started using adult shampoo and conditioner that was free of any harmful ingredients as well as cruelty free, and that seemed to make her hair grow twice as fast. Once she turned 2.5 she started to pull on it and gradually started ripping it out, and now we are back at square one with little to no hair left.. As much as I cant help her and I understand it is something that comes with SMS, it genuinely breaks my heart to see such beautiful blonde locks, go, when they so slowly came in. Along with all of that, Arielle still screams and yells and nothing can calm her when she is in that part of her tantrum. It is very hard to pin point where her triggers come from to help her contain them due to her having them as often as she does. She goes about 10 hours a day in full blown tantrum mode, which leaves us with roughly 2-4 hours with a calm, sweet and tantrum free- Ari.
Some of Arielle’s favorite things are, the color purple, cocomelon and blues clues, her brother and sister, her great-nana and great-papa, aswell as her Papa, Grandma and Grandpa, and all of the family not mentioned who is active in her life. She loves to sing and dance, and loves all genres of music but mainly Rock-n-Roll (thanks to her daddy). Along with that she is a hardcore daddy’s girl and her favorite time of the day is when he gets home from work to spend time with her. She loves to color, but mainly paint. Her favorite foods are pancakes, avocado toast and all kinds of veggies. She loves to push her sister in the stroller, and is happiest outside in the sun. She loves to hold hands at all times aswell as play patty cake. Wheels on the bus and head, shoulders, knees and toes are her favorite “learning” songs. She loves her feet rubbed and her hair played with aswell as snuggling on the couch with her mommy while watching her favorite shows. Her favorite animal is an elephant which we find so ironic because before she was born we created a bright pink and grey elephant themed room for her, and now at almost 3 years old, she can’t sleep without her “ellie” beside her, even though she was not old enough to recall her baby nursery.- She loves the bath… well, honestly all forms of water, but she loves the toys and bubbles during her bath. When I was pregnant with Ari, we got a puppy and named him Ace, we hoped they would grow up together but for me being FAR too pregnant for the amount of upkeep he needed, we gave him to Ari’s grandma, and now when we go to visit, even though we didn’t keep him long, it seems their bond from beyond my stomach, has come out to be unbreakable now that she’s older. Ace is the first thing she runs toward when visiting, so to add to all of her favorites Ace hands down has to be top of the list! Arielle’s favorite words are Dada, No, Willow and ofcourse she loves to SAY the color purple any chance she gets. Her new favorite way of letting us know she is about to have a tantrum is saying “UH-OH” right before she bolts out in full blown screams, whether she can feel a tantrum coming on… we will never know, BUT it does help us more that she’s notifying before she has one so we have awareness of when it will happen!
Arielle has her spurt moments, but overall is the sweetest, most loving, smart, bright and beautiful baby girl I could have ever wished to have been blessed with.
I love my sweet SMS girl.
Just a note to let everyone know about our little “Ari”, She was born in 2019 and diagnosed in 2021 with SMS. We are so very lucky and fortunate to have her in our lives. She is our first great-grandchild and we look forward to watching her grow and learn everyday. A BIG thank you, to all that are involved in the research of SMS. Wishing all, a special SMS Awareness day !
Arielle’s Great-Nana & Great-Papa
I never thought you could love a child as much as your own, but on March 17th 2019 at 4:32am, I was proven wrong when Arielle entered this crazy world. Her beauty, personality and curiosity have not stopped growing. She continues to melt my heart with every milestone she reaches and surpasses. Having been diagnosed with SMS, she will face many challenges but has a team of support that will always be there helping her along the way. I thank Shawn and Brooklyn for the constant care, love and support that will always be there, helping her along the way. Ari has such a bright future ahead of her! I am so excited to see her grow up and explore all the world has to offer.
Arielle’s Grandma Stacy
Arielle was our rainbow baby after our miscarriage and BOY, has she been an absolute adventure. She is definitely special in her own ways. Ari amazes me every single day with how she makes this crazy world around her so special and unique. Having to learn at a slower pace, in developing her motor skills and physical skills has been hard, but every hard day and moment just takes a little bit of patience and attention to make the outcome beautiful. Some days we feel defeated, and others comes with tons of success, but no matter what, her smile and big hugs with loads of kisses throughout all of our days, keeps us going. To those in close relativity to SMS, whether have being diagnosed, or knowing/loving someone diagnosed, dont EVER lose hope or feel defeated that your SMS warrior isn’t “like others”. They are beautiful and special just as much as every other individual, maybe even a little more, but I could be a little bias… I truly do love my sweet SMS warrior, my first born, my daughter, my little girl. She is the greatest blessing I could have ever dreamt for.
Arielle’s Daddy
*I do not own copy rights of music* Arielle’s 1st Birthday video.
*I do not own copyrights of music* Arielle’s 2nd Birthday video.
To those who have children diagnosed with SMS whether young, or adult, there are resources, as well as for those with the SMS diagnosis. Please reach out to any PRISMS representative, they are very quick responding with any questions or concerns you may have. If unsure of the diagnosis but after reading and maybe thinking this “could be it”, please reach out to their/your doctor or care provider and ask for a microarray clinical lab test through a genetic specialist/provider to determine if they/you may have the 17p11.2 deletion and where to go for next steps. There are facebook support groups as well that may help you with more information, an outlet to vent and or push you in the right direction in your journey with helpful tips and opinions to guide you. Please reach out, you are never alone.
Brooklyn Leigh 