September 19, 2022
By Shaune Copeman
My warrior, Maggie, was born in 2003, and within her first year was identified as not typical as she wasn’t meeting milestones. She was wrongly diagnosed with CP. Then labeled with autism at 18 months. When she was 3, we were informed by her neuromuscular specialist that Maggie was the 5th person in the world diagnosed with Syngap1. We knew nothing about it and honestly joining this group is the first time I have felt like I have found a place where we belong. I had no idea there were so many now diagnosed with Syngap1. I have always thought that many of the kids diagnosed with autism should be tested for Syngap1.
Mags didn’t walk until she was 2 years & 1 month old, after she was diagnosed with a Coenzyme Q10 deficiency and supplemented with CoQ10. In physio she had to be taught to save herself from a falling, as she didn’t have those instincts. Walking was aided by AFO’s, full walkers, then pull-behind walkers, then therabands. She was determined to walk and worked so hard to get launched. She walks independently now…it is functional, with tons of overcorrection, but she rarely falls. Mags has tiny feet for her height (size 5.5 or 6 and is 5’6” tall.) Her feet have super high arches and insteps and she walks on the outer edge of them. She wears orthotics since she refused to walk in AFO’s anymore. Maggie fatigues easily, but tries so hard. She delivers newspapers every week with her schoolmates. It is a taxing day, but she is so proud.
The autism diagnosis brought years of 30 hour weeks of ABA/IBI therapy. She soldiered through it all sometimes with a smile, sometimes not.
Speech therapy was a large focus too during this time. Her SLP said she was a miracle child that should be written up in medical journals as with her muscle tone in her face and mouth, she shouldn’t be talking. Maggie had an amazing therapist, without her I am positive Maggie would be speechless. It was a long, slow process. She was taught to imitate, as she had no natural inclination to do so. Then she was taught signed English. Then, as promised, the speech came and the sign language dropped away. She said “Mum” for the first time, at age 5, on the way to speech therapy in protest! I cried tears of joy. Maggie can say approximations of almost any words now. She loves you to echo her so she knows you understand. She has an incredible sense of humour which shows up verbally and with facial expressions.
Miss Mags got a service dog named King when she was 3. King was a bomb proof yellow lab/golden retriever cross. He was amazing, she loved him and he was a great help to us because he allowed her to be more independent as she had (and still has) no street smarts. He kept her out of harm's way but allowed her to stop holding our hands. King also helped with meltdowns, and meltdowns in public especially. He would interrupt her screaming fits by getting in her face and she would forget what she was screaming about. It also helped the general public realize that she wasn’t just a bratty kid having a freak out in the mall. Unfortunately when she transitioned to the public school system, the teacher felt King was a nuisance rather than a help. She was a horrible teacher and we were told the dog couldn’t attend school with Maggie. Sadly King passed a few years ago, after retiring as a service dog he remained a family pet and was truly loved.
I'd estimate that Maggie functions at a 2 or 3 year old level cognitively which brings me to the next complication. Epilepsy. Mags was diagnosed with epilepsy at 18 months. She was having up to 9 absence seizures a day for a month before she was medicated with Valproic acid. It completely squashed the seizures for over a decade. Then, at around age 17, the epilepsy took on different forms…eventually progressing into Tonic-Clonic (Grand Mal) seizures this past May, at age 19. There were many medication changes as the Valproic Acid was no longer effective. Between mid May of this year and August 9th, Maggie was having a Tonic-Clonic seizure every week or 2 and each one was becoming worse than the last. She had 2 trips to the ER in an ambulance. Her stability was negatively impacted and she was falling a lot. Her last Tonic-Clonic seizure she stopped breathing, her lips and whole head turned blue. I screamed at her not to leave me. Fear brings very real talks with God, as I call my Higher Power. I begged for a solution, to make the seizures stop and help her heal. As I have always professed, God looks after Maggie. It has always been that way. When feeling painted into a corner and desperate, an answer comes to rescue her. This time was no different, she was placed on a 3rd med (she was already on 2 others), which does its work overnight, and this was the last piece of the puzzle…the seizures stopped. The dosage was recently increased as there was some eye rolling in the first month. She is more fatigued, but her stability has improved and cognitively she seems well. Mid day naps help her stay well.
Maggie’s ABA/IBI was all done privately until she was 12. At that time her father and I parted ways and we could not afford to continue with a private school. She entered the public school system which was a nightmare until Maggie got to highschool. The highschool program she attends is wonderful. The teacher fully understands how to bring the best out of her students and the EA’s make learning a great experience. She can attend until she is 21. I dread the day she must leave this environment. We had Maggie in 2 day programs over the summer to test the waters which resulted in some good feedback.
Enough of the trials and tribulations. Let’s get to the good stuff!
Maggie’s special talent…she has a built in GPS, I swear! Like a migratory goose. Whenever we alter our route in a way she has never been before, she still knows which street to turn on to get to places like Wendy’s and Dairy Queen.
Another kinda woo woo skill she has…I swear she reads people auras. She makes a judgment on a person instantly and she is always right in my opinion. One of her doctors she disliked instantly and never changed her opinion, yet she would respond to his intern well. It turned out that the doctor was definitely not a good guy. We used to tease her older sisters that their potential boyfriends had to get Maggie’s approval.
Maggie’s biggest obsession is humpback whales. She adores them. Her room is decorated with a huge humpback mural. We went whale watching in the St. Lawrence River and saw Minke whales and Belugas, she went ultra calm, like in a trance-it was like she left us and was in another place when they were present. When Maggie had her last big seizure I felt like I had stared at her mortality and my own, right in the face. I promised myself that as soon as her epilepsy stabilized, I was taking her to see the humpbacks…just her and I. Mags and I have each other and although managing Maggie, the trip, and luggage won't be easy, we have to do this! Maggie struggles with incontinence, that is a bit of a challenge for travel but I figure that as difficult as this trip might be, there are good people everywhere that will help us make this happen.
Maggie loves aviation, Harvard airplanes especially. She has flown in a helicopter, a Cessna, in jets plus attended air shows. She is in heaven when she flies and the more turbulence, the better. Mum loves flying too.
Maggie is quite social, and enjoys sharing facts about her favourite things with whoever is within earshot.
Some of Maggie’s favourite things include: Kinder Eggs, The Incredibles, Thomas, Sponge Bob, colouring, her tablet, online colouring, plain chips, Wendy’s, DQ Blizzards, animals (especially dogs).
Fun fact, Maggie knew the names of colours way before my typical kids did. I would hold up a set of crayons and say…pick the blue one etc. She was 100% accurate all the time.
Maggie has 2 older sisters (10 and 13 years her senior) who are heavily involved in their own lives. They love her dearly, but they are busy. Neither wish to care for Maggie for even a few hours, never mind in the future.
Maggie is my world. I am single and have been since 2014 when her father and I separated. Her dad remarried a widow and now has 2 sons. Maggie doesn’t get the attention she used to from him. I feel even more determined to make sure that Maggie knows that she is loved infinitely and that she is a very important person in the world.
To those of you who have embarked on this journey more recently. I grieved the loss of a typical child and all the milestones I envisioned but with an open heart, I embraced the gift I was given because my special child is just that…special. And she has brought me experiences and feelings that my typical children never did. We are tested regularly, but we are also rewarded often in ways we never could have imagined. My motto for years has been “Expect nothing and celebrate everything”. I feel blessed that Maggie chose me as her Mum. I have felt love with her deeper than I knew could exist. Hugs to all of you Mum’s and Dad’s and caregivers, stay strong and loving.
Maggie and Shaune.
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