My Son Has Duplication 15q, But Duplication 15q Does Not Have Him

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On Friday July 18th 2014, we were told our son had a rare chromosome disorder — duplication 15q (IDIC15). Just a few months before we had been told he had the rare form of epilepsy known as West Syndrome. We walked into our appointment expecting to learn more about West syndrome, not to get another diagnosis. In a way, it was closure of one chapter and the beginning of another, which was altogether unwritten and unknown.

The day itself was incredibly hot, one of those rare days of glorious British summer we crave all year and yet it was largely spent indoors. The hours leading up to the appointment seemed to last for an eternity, most of it spent pacing nervously around the house in an attempt to kill time before we were due at the hospital just after lunch.

Arriving at the hospital, nerves were shredded in anticipation of what we were about to hear. In addition to the consultant and epilepsy nurse, there were two other medical professionals present (to this day, I have no recollection of who they were or why they were there, I assume they had some relevance to proceedings). Matthew’s consultant and epilepsy nurse held a somber look on their faces — a look of compassion yet foreboding and almost apologetic. It made my stomach tie itself in knots as I braced myself for the news.

Much of what happened in the appointment is a blur, I have no idea how long we were in there, it seemed like ages but was probably no more than half an hour. It commenced with a few pleasantries before the news was broken about this thing called chromosome 15q, its importance and how a duplication on it had caused Matthew’s epilepsy and developmental delay. We were presented with sheets of paper full of diagrams to explain it; a disorder guide found online by the consultant from the Unique website, a charity that would soon become vital to our fact-finding, acceptance process and ongoing support.

Back in the room, a range of negative emotions of anger, fear, sadness, grief, self pity and more were running through my mind. I contained the anger but the sadness and grief came out in spades as the medical team attempted to console us both.

Right there at that point I felt like a broken man. Almost a year prior to that day, just yards from where I was, I had celebrated Matthew’s birth. I had hopped, skipped and jumped down the corridor of the maternity ward, and yet here I was days from his first birthday attempting to come to terms with one of those earth-shattering things that just happens to other people. The contrast felt stark and brutal.

In the days that followed I was an emotional wreck, I barely slept and I fell to pieces on a regular basis. I seemed to have no control over the tears (because,yes, Dad’s cry, too) that would break out whenever my mind turned to Matthew, contemplating the future or what I had begun to read about duplication 15q syndrome (IDIC15).

I didn’t feel it then, but somewhere deep down inside, hope was growing like a microscopic shred hidden away somewhere in my heart or soul. At the time, it was invisible and suppressed behind the grief and fear, but I know now it was there.

As the days from diagnosis grew to weeks, so did hope, and it began to grow day by day. In contacting other families via Unique, reality dawned and there was a change of mindset. Rather than just seeing the negatives in the disorder guide and fearing the worst, there was a focus on the positives and the achievements other kids with IDIC15 had chalked up.

That mindset change was a vital part of acceptance, realizing the hopes of the 12 months prior were no longer realistic and new hopes had to be made. It was, and still is a painful realization, that Matthew might require lifelong support and might not be able to live independently, but with positivity gained from hope, we could ensure he achieves all that he can.

Fast forward a couple of years, and the achievements he makes are celebrated like he has scored a last minute winner at Old Trafford for United!

 

Matthew is yet to speak his first word but he does the occasional babble…amazing stuff!

I feared he would never communicate with us, it isn’t conventional but we have come on leaps and bounds and he has started to attempt to use PECS.

I feared he would never walk, he nailed it just a few months after his second birthday!

I feared he would be a kid without a smile, he has the cutest smile which lights up a room!

I feared we would never hear him laugh or giggle, his laugh is infectious.

I feared I would never have that father-son bond, it is there, he demands my attention to play, to hug, cuddle and be that Dad to him I always wanted to be and I cherish it!

I feared on diagnosis day and in the darkness that followed that there was no hope, that this chromosome duplication had taken our boy away from us and that it would forever dictate his life. I was wrong!

This is a kid who has never spoken a word to us, yet he makes us laugh and smile every single day, that is some impact!

Two years ago as I took big steps in acceptance, I wrote that, “Matthew has duplication 15q, but duplication 15q does not have him.” Something we still stand by.

I am not naïve enough to think there will not be challenges ahead, IDIC15 is far too complex a syndrome for it to not influence his life, I know it will. But by keeping hope alive, we can achieve so much and it makes each battle that little bit easier.

Follow this journey at A Father’s View of 15Q

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Thinkstock image by Stockbyte

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When I Realized the True Effect My Daughter Has on Others

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Eleven years ago, when our first child was born, we had a little inkling that life would take a different path than the one my wife and I had envisioned. Within 24 hours we learned our daughter would need special feedings and surgery to repair a cleft palette. Within four months we learned she has a rare genetic disorder called Idic 15, which results in severe developmental delays. Within six months she started having seizures. I remember those days being filled with concern and worry. I remember the stress involved with each new doctor appointment. I remember wondering what might come next.

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Eleven years later, Jordan is a happy, sweet girl who loves life, her family and her friends. She’s nonverbal, not toilet trained and has been assessed at the developmental age of 3 years old. She will always need and be in someone’s care, and she needs a lot of supervision. We’re fortunate that there are programs, funding and people available to help us with her needs. This includes support at our local daycare, school and respite care. We’re grateful for all of the help we receive, but with all of these people involved I sometimes wonder what they think of her and her need for all the extra help and attention.

It turns out that our little Jordan has made an impact on a lot of lives. People who have come to know her and work with her have let us know, in many different ways, that they think the world of her.

Jordan has formed a bond with many of our family members. One uncle who used to live in the same community would visit regularly. Every time he came over, Jordan would run to him with a big grin on her face and start jumping up and down and laughing her head off. The two of them would carry on for 15 minutes like this. Uncle H would often phone to see if we were home because he needed some “Jordan therapy.” When he recently moved to another town, we took some video on Jordan’s iPad of the two of them having fun. Jordan watches those videos constantly. Uncle H recently told me, “Let me know if she starts missing me again, I’ll come for a visit”.

In September, Jordan changed schools, going from early years to middle years. This meant not only a new school but new teachers and new educational assistants working with her. A few days ago, two of the EA’s who worked with Jordan for years in her time in the K-4 school texted my wife to say they missed her and asked if they could come visit and spend some time with her. I know she’ll be excited to see them.

Yesterday, a card came home in her backpack from a current EA with the most beautiful note in it. She described how much Jordan has brought joy into her life. She talked about Jordan’s penchant for “making eyebrows” and how her laugh rolls when she plays this game. Along with the message was an offer to watch her if we wanted an evening out.

If I take Jordan out somewhere, I can expect to run into someone I don’t know who knows her and who will come over and say hi and talk to her. 

Walking into the school with her brings dozens of greetings from the other kids. Many of them make an effort to come and hold her hand or give her a hug.

My parents will hear comments from the community like, “I sure love that granddaughter of yours.” The mother of the lady who provides respite care for us tells my wife how she hears about Jordan from her daughter and how she loves coming to our place because Jordan is just so much fun to be with.

I’ve come to learn that the Jordan Effect is one where this child who doesn’t speak, who is younger than her years and who needs constant supervision, is a child who brings joy, friendship and love to many people in our community. She inspires others to share, to recognize success and to reach out with a helping hand. She has taught her father not to fear what comes next but to look forward to the future and embrace it. She has made a difference; she has had an effect.

For all of December, The Mighty is celebrating the moments we gave or received a gift that touched our lives in a special way. If you’d like to participate, please send a blog post describing this moment for you. Include a photo and 1-2 sentence bio to [email protected].
Hint! Some gifts don’t come in packages.

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Autism and the Holidays: 5 Tips for Getting Through This Season With Sanity Intact

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santa It’s that time of year again… Christmas decorations, family and friends, jam-packed malls and parades, people in your personal space — a sensory-sensitive child’s nightmare!

Run! Hide if you can, and bury your head in the turkey’s behind if you must… or read about my tried-and-true tips learned through sweat, tears and trial and error.

5) Breathe. It’s 30 days — you can do almost anything for 30 days if you have to.

4) Use the “small doses” rule. Short bursts of holiday/people/noise a day. One hour is usually the max before my boy (and me) are ready to implode.

3.5)  Wine or specially-infused eggnog.

3) Introduce pictures of holiday-type creatures and characters weeks in advance. Preparation people — it’s worth the time.

2) Be aware of the five senses. Your child will be hypersensitive, so be flexible. If they don’t sit on Santa’s knee this year, oh well. The elves look scary and weird so who cares?

1.5)  There’s always next year.

1)  Your Christmas is your Christmas is your Christmas. Your holiday is your holiday is your holiday. There’s no right or wrong way to celebrate. The holidays will be what you make of them. So make them happy.

This post originally appeared on The Book of Timothy.

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Dear Santa, All I Want for Christmas for My Child With Special Needs Is This…

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At The Mighty we love hearing from you, our passionate readers. This holiday season we wanted to know what parents of children with special needs would ask Santa for if they could request something — anything — for their kids. We asked, and this is how you answered:

“For parents to teach their children that different is not less.” — Patricia Rhynold

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“For happiness, always.” — Nancy Djemant

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“For an accessible house.” — Jenifer Pierce 

“Dear Santa, please let my boy always have a kind and loving heart. But please give him the knowledge to know that not everyone is his friend. Please keep my baby safe. He loves everyone. Merry Christmas.” — Lori Smith

“That he always has something to make him laugh. You know, those side-hurting, eyes-watering, can’t-breathe kind of laughs.” — Megan Taylor

“To live a happy, healthy and fulfilled life surrounded by people who love and accept her unconditionally.”
— Kristina Johnson

“Giovanni would love to meet his friend Austin he met on Facebook over at Austin’s Angel’s of Hope. They’re only about four hours or so away, but money is tight for us because of Giovanni’s care. I would love Santa to make this meeting happen for these two special boys!” — Shannon Algarin

“A bright future.” — Jennine Herzog LaChapelle

“For genetic testing so Jayson might have a diagnosis… A diagnosis might help us know how to best help [him]. It might tell us how long he will be here to bless our lives. It might give us answers we so desperately seek. And if you can, Santa, relieve Jayson of his pain and seizures. He truly is so deserving of these gifts.” — Tristin Taylor West

“Smaller, lighter toys for my little Annabelle to be able to hold with her tiny hands. And swings/bouncers that can fit kids of smaller stature who still need to work on posture and independence.” — Michelle A Schwindler

“For her to achieve all that she dreams for in life and to always maintain the fight she has shown in her first 14 months.” — Jacqui Hicklin

“For my daughter to live a long, good life, not necessarily without difficulties, because I want her to learn and grow from them. I want her to make and have lasting friendships, and I wish for her to grow deeper in spirituality. When we are all gone, we believe these are the necessities that will sustain and keep her no matter what.” — JomarRachelle Dioso

“Dear Santa, Casey would like a sequin American flag jacket like Shoji Tabuchi’s, and I ask for him to have a seizure-free Christmas.” — Billie Ann Doner

“For him to be healthy and happy with no more anxiety.” — Laura Summers Smith

“For my son (and all people everywhere) to be surrounded by love, friendship and acceptance. His spirit is so full. If others were able to slow down and take time to really get to know him they would be rewarded with all the joys he has to share.” — Theresa Soares 

“A trip to Disney. We’d planned on going last month but something came up and we had to cancel. It was just more important than going on vacation. Our family on my side all cancelled because we couldn’t go.” — Tabitha Monistere

 “All I want for my beautiful daughter is a cure from the fatal Sanfilippo syndrome.” — Wendy Baucom Ferguson

“A service dog as a companion for my [child with multiple disabilities].” –Kelly Briffa

“Truett wants a diagnosis and to be able to move again so he can play with his sister.” — Priscilla Zahner Rosenlund

Happy holidays, from The Mighty.

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To the Trader Joe's Employee Who Noticed My Family in the Parking Lot

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I was tired, hurried, frustrated and ready to just go home. My husband, John, was pushing our son, Mareto, in the cart as fast as he could to leave the store before the meltdown got worse. We were frantically trying to open up a cereal bar to stem the tears. Our daughter, Arsema, was strapped to my chest in the ergo carrier watching it all through wide eyes. Sweat beads were forming on my forehead, caused in part by my embarrassment but mostly from the heat and amount of energy I was exerting by running through Trader Joe’s with my 18 pound baby strapped to my chest and my toddler screaming behind me.

I sure didn’t feel like I was going to be in the running for any mom of the year awards. I felt like a hot mess. In fact, I was sincerely hoping no one was looking at us too closely… that somehow we were invisible to the people bustling around us. It was chaotic, exhausting and an unfortunately all-too-common experience for us.

Our family doesn’t exactly blend in with the wallpaper. Not only are we two white parents with a brown son and daughter (something that causes enough stares and questions all by itself), but our son has noticeable developmental delays and different behaviors because of autism, and our daughter has missing and webbed digits. In other words, when we all go out together, we stand out. Usually I don’t mind, and often I love it. My children are beautiful, and so is our story.

Sometimes though, on the days when we’re far from having it together, I do mind. Those days I just want to blend in with the crowd and hide far away from the curious stares. Some days I get tired of it all and just want to be a family — not the adoptive family, not the family with special needs children, not the unique family — just a family. This was one of those days.

I was close to tears as John took Mareto to put the cart away. I rushed through the doors with Arsema on my chest to get to the car as quickly as possible when a voice behind me slowed my steps.

“Ma’am!” she called out. I slowed, hoping and praying she wasn’t talking to me.

“Ma’am!” I stopped and turned to find a young woman rushing toward me. A bright smile covered her face, and I immediately noticed her beautiful black curls, just like the black curls snuggled on my chest, tickling my chin. Recognizing her shirt, I realized she worked there and assumed I must have dropped something. I looked at her, holding back my tears, waiting.

“I just wanted you to have this bouquet…” and I looked down to see the flowers in her hands. She quickly continued to explain…

“I was adopted as a baby, and it has been a wonderful thing. We need more families like yours.” I stared at her, stunned. Hadn’t she seen what a disaster we were in the store? Didn’t she see that we were barely able to keep it together? Didn’t she see what I felt were all my failures as a mom?

As she handed me the flowers I managed to choke out a thank you and tried to express that this meant the world to me. She patted my shoulder, told me my family was beautiful and walked back into the store.

My steps were much slower as I finally headed to the car with my arms full of flowers and tears that had spilled over onto my cheeks. On a day when I felt like we were the worst example of family… a day when I hoped no one noticed us… she did. But she didn’t see what I assumed everyone was seeing. She didn’t think what I assumed everyone was thinking. She saw beauty and love and hope and family. She thought we were wonderful and it made her smile.

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I wish I had thought to get her name. I wish I could go back and tell her, two years later, what her gift continues to mean to me today. To the beautiful young woman in the parking lot of Trader Joe’s … thank you from the bottom of my heart. You are a treasure.

This post originally appeared on LaurenCasper.com.

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What Being a ‘Special Needs Mom’ Has Taught Me About Just Plain Being a Mom

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I was chatting with a younger momma recently who asked me to share some tips and tricks for motherhood. She said she thought our life and all its crazy might have taught me a few things she could apply in her life as well — with or without special needs.

You know what? She’s absolutely right. Most of the lessons I’ve learned and the tips I share have more to do with just plain being a momma. So for her and for any of you, here is my list:

What I’ve Learned About Motherhood (So Far)

1. Always carry baby wipes – in your car, in your purse, wherever, no matter how old your kids are.

2. There is always a reason for unexplained behavior (and it’s usually not time for the exorcist). Slow things down a bit. Observe. Ask questions. Get some time alone with the child in question. You’re the momma. You’ll start to figure it out.

3. Get to know other mommas. Ask them real questions, even if you feel silly. Other moms can be our greatest resource.

4. Reading books together is fun — so are movies together as a family. Both make memories, so don’t feel bad about the media or beat yourself up about the chapter you missed.

5. When your child says, “I think I am going to throw up,” always, always, always grab a big bowl. As they get older, they will try and make it to the bathroom, and they will very rarely actually make it.

6. Meals happen every single day, three times a day. You might as well accept it and come up with a plan instead of being caught off guard at four every day (or every morning at eight or every afternoon at noon if you’re like me…ahem).

7. Sometimes, that plan might be scrambled eggs or cereal. It’s still a meal.

8. Carry snacks. Again, no matter how old your kids are, carry snacks.

9. When your child wants to snuggle just a little longer, snuggle. When you worry about spoiling your child because you snuggle them so much, please know there will come a time when snuggling with you is the last thing they will ever want to do. Snuggle now. Snuggle long. You will miss it.

10. The same thing goes for hugs, kisses and tickles.

11. You will work hard — really, really hard. Just because it’s hard, doesn’t mean you’re doing it wrong.

12. Figure out what you child is good at. Focus on that. Develop that strength. Focusing on the deficits rather than the strengths rarely produces excellence. Encourage their God given gifts.

13. Tell them as often as you can remember that you love them no matter what — no matter what they do or don’t do, no matter what they may say or not say. Tell them you’ll always, always, always love them — that it’s not possible to not love them.

14. There really is something to the airline instructions to secure your own oxygen mask before helping your children with theirs. If you’re unconscious, you can’t help anyone, and your children will be on their own. The same thing is true in life. If you’re barely surviving, whether you see it or not, your children will not be getting the care they need from you. Take time to just breathe and take care of you.

15. These children will bring you to your knees — in prayer, in scrubbing up messes you never dreamed possible, in fishing out tiny remote controlled cars out from under the fridge, in prayer.

16. If you feel yourself starting to slip… into depression, into drinking too much, into shopping too much, into binge-eating too much, there’s no shame in getting help. You’re someone’s momma. You matter.

17. Your car may not be clean for the next 18 years or so — inside or out.

18. You will marvel at how nasty a bathroom can actually be just a few days after you scrubbed it. It’s a motherhood mystery. You are not alone.

19. Sometimes, you will just close the door to that nasty bathroom and walk away. That’s OK.

20. You will worry way too much that you’re spoiling your kids. Conversely, you will worry way too much that you’re not spending enough time with your kids. If you are worried about both of these things, almost simultaneously, the truth is probably in the sweet spot… right in the middle.

21. Never ever research medical conditions on the internet before first talking to an actual doctor. No momma needs that kind of drama.

22. One day, you will look at your child and realize you’re staring him in the eye — not looking down, not bending over, just looking him in the eye. You will feel an odd mix of awe and loss.

23. No matter what the gender of your children, never leave your makeup out while your little ones are under the age of 9. Just trust me on this.

24. Get to know coffee. Make it your friend. Love it, and it will love you back.

25. Get used to saying “I’m sorry” to your child. You will mess up. You will mess up a lot.

26.  You will love more intensely than you ever thought possible. You will grieve more intensely than you ever thought possible. You will mess up worse than you ever thought possible. You will matter more to these children than you ever thought possible.

27. Get used to nakedness — lots of it. There’s a stretch of time where your child will love nothing more than to show you (and possibly others, in public) what they’ve got, any chance they get.

28. The nakedness thing will be replaced by total and complete privacy. Then you will find yourself trying to discretely peek to see if hair is now growing in places it previously did not.

29. If you are married, love your husband, even if it seems sometimes like he doesn’t love you back. Let your children see how much you love him. Tell them all the time how much you love him. He needs to hear it and so do they.

30. Build forts. They are a pain to clean up, but build them just the same. In time, you will remember those forts more fondly than they do.

31. Every once in a while, surprise them with ice cream or cake for dinner. They will survive the lack of nutrition, you’ll be the hero, and you won’t have to cook.

32. Your floors (especially the area in the corners) will be dirtier than you ever imagined. You will stress about this for some time. Then you will let it go.

33. When your child spills something — and.they.will. — try to react with grace (even if you just scrubbed that floor). We all make mistakes, and some children have more dexterity than others. A simple, “Oops. Let’s get the towel and clean this up together,” will do.

34. Sleep? Never, ever count on it. Then, it’s like a wonderful surprise when it actually happens.

35. At the end of the day, when you are beating yourself up for all the things you didn’t do, and all the things you wish you hadn’t done, stop. Stop and start to list the blessings. Every single day we have with our children is a gift. Just ask any momma who has lost her child, whose arms ache to hold her baby one last time. She will tell you. Even the bad stuff is wonderful. Even the messy and the crazy and the awful and the gut-wrenching is beautiful. This, more than anything else on this list, has been my greatest lesson as a momma so far.

No matter how sad or dark or grieved or messed up or crazy it feels, there is always, always, always something to be thankful for. There is always hope. There is always love.

This post originally appeared on Not the Former Things.

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