Wednesday, July 24, 2013

The Diagnosis


I don't remember everything, but I remember it was in the second half of March. The phone rang. I answered.

It was genetics from the big city. They had ordered an array CGH (Micro-array comparative genomic hybridization) 18 months before and they had the results. This was a last ditch effort to figure out what was wrong with Finleigh. We'd tested her for a myriad of different genetic disorders and they'd all come back negative. Downs Syndrome. Nope. Fragile X. Nope. Prader-Willi. Nope. MPS1. Nope. Muscular Dystrophy. Nope. And a couple others. All fine. One doc had thought it might be Turner Syndrome. Also a nope.

Her MRI had come back clean, so not likely Cerebral Palsy.

We had accepted that we would never know what was wrong beyond autism. But when we were told about the CGH that was available to us, where they would go over her chromosomes with a fine toothed comb, we jumped at the chance. We needed to know.

So, we had the blood work done and forgot about it. Until the phone rang. 18 months later, a month after she turned 6.

"Your daughter has Smith-Magenis Syndrome."

My head started floating. You know that feeling? Where you're in a state of disbelief about what is happening to you? It was surreal. We had a name. We had an actual diagnosis.

Smith-Magenis Syndrome. I had never heard of it. But it meant that it wasn't my fault - a thought that had haunted me from the day she was born four weeks early under less than ideal circumstances.

We talked about it for a bit. She told me some of the main issues with the syndrome and booked an appointment for us to come down and talk face to face.

Immediately I went online. Wikipedia gave me a general sense of what we were dealing with. Then I called my husband at work. And from that moment on, whatever I was doing lost all meaning. I spent the next couple days combing over the internet for every piece of information I could get. I read blogs. I perused the Prisms website, reading most of it. I talked on the phone to those I was closest too. I was fine.

My husband and I were amazed at how perfectly SMS described our daughter. Right down to her little hands and feet. There were other Finleighs out there! We laughed at stories we read from other parents of SMS mischief. We chuckled at a shirt we found online that said "I void warranties." We kept pointing things out to each other. Suddenly everything made sense.

A few days later, reality finally hit me. I realized that, actually? This diagnosis really was going to change our lives.

I suddenly started seeing Finleigh differently. All I could see was SMS in her face. I had lost my little girl. And the question of whether she was going to grow up to be independent was all but answered. She would always need some help. And no, she would likely not ever get married. Or have children. Or a career. Or drive.

And those tantrums that she was going to grow out of? They were going to be a permanent fixture. They felt different too. Could it be true that her emotional maturity would never grow much past a 3 year old's?

Oh. My. God.

That is when I really lost it. That is what I was sure I could not live with. That is what broke my heart. I imagined an older version of Finleigh... acting like a three year old. That was just not okay.

Once we talked with the geneticist, who thought that we - and Finleigh - were doing quite well, all things considered, we told the school. The SMS diagnosis has not really changed how her education or therapies are done, but it has allowed everyone involved to understand why. And that is a good thing, even if I don't want to face the truth of what the future could bring.

Five months in, we're still getting used to our new reality, but we're okay. Finleigh looks like Finleigh again, I'm beginning to get my feet back under me. The diagnosis gave me the impetus to argue for more support and we now have respite. And hopefully another year of funded therapies for her through the school.  We've had several other specialist appointments now and know that her heart and kidneys and liver and bladder all look fine. We just saw the ENT and audiologist, her hearing and vocal chords are fine. We'll be seeing an ophthalmologist soon to talk about her lazy eye(s). We saw a sleep specialist who will be helping us work on getting Finleigh the best sleep she can.

I started this post over a month ago. I keep coming back to it. Wondering how to finish it. Am I being too positive? Because somedays I just want to say fuck you to the universe and the odds that my child would have a syndrome as rare as 1 in 25,000. Or am I being too negative? After all, she is healthy. I draw strength from those that have gone before, often without the benefit of knowing what we know about SMS today. I know we will survive. We'll get through this, stronger for it, even. But life looms long in front of me. There are so many hard things about this syndrome.

It's a syndrome that gives us a child with a funny, endearing personality. People love her. WE love her. But it is also a syndrome that brings on unexpected tantrums, messes with her sleep cycle and delays her emotional development far more than her intellectual development - which by the way is not so great either.

Everyday, life is a fight. From the beginning of the day when it's a fight to get dressed to the end of the day when it's a fight go to bed. It's exhausting.

And yet, she is beautiful and we will do whatever we can to make sure she's happy. The dreams we had for her are different now, but she brings a light into our lives that is special and unique. And that, I suppose, we would not trade for the world.





12 comments:

  1. I just read what you wrote and I have tears streaming down my face. My daughter is 12 and I was completely alone just her and me when I found out her diagnosis. I curled up in a ball for about 5 hours and cried (this was 10 years ago). I did not have a computer at the time. Her doctors had no clue what SMS was. The next day I went to Walmart and bought a computer and got online. I went through so much testing with her, it was so hard. It still is. Thanks for having this blog. I need to blog but can't because I just don't have the time or even know how to create anything. My name is Cassie, I have a daughter Morgan. She is 12, she has Smith-Magenis Syndrome. She is my girl.

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    1. Cassie, I don't even know how you do it alone. Your strength is so great. You inspire me, doing it on your own, finding out on your own. I hate how far apart we all are. But what I can tell is that Morgan is well loved by you. I can see that in your writing. xxx

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  2. I love you. I love Finleigh. And it all hurts my heart.

    xox

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    1. xox. I love you too. And your situation hurts my heart too. So, we are even. And I'm so glad I have you in my life.

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  3. Such a lovely honest post. And look at that beautiful face. Finleigh is certainly fortunate to have you for a mom.

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  4. Hi,
    I'm Sabrina and I'm writing from Italy.
    Federico is my little son, my beautiful, cute, lovely little child, 6 years old....he has the SMS..it was diagnostcated last year, 2013, beginning of April. Oh my God, my experience was the same! Me and my husband in genetic dep, in front of the doctor. I couldn't believe at her words...but was the truth! 5 years without knowing anything, fighting every day with tantrums, no language and the sleep problems, but now...all that had a name! We are also living day by day, moment by moment. We are so proud of him and in a few seconds, suddendly we are desperate. But we have a great strength, the love for Federico. I'm so happy to meet other family, even if only on the web. Please, let's keep in touch!

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    1. Sabrina, it's so good to meet you. This life with SMS can be so lonely when you don't know anyone else who understands this life we live. I would love to talk more with you. Do you have an email address that you could send me? I'm at adaybyday (at) shaw (dot) ca.

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  5. Hi Amanda! My name is Lynda and I too could so relate to your words when my 11 month old was diagnosed with SMS. It has been just over a year since we learned of the diagnosis and we are still adapting. I guess we will always be adapting. We would love to speak with you and learn about your journey ...mattandlynda we are at outlook com

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  6. Hello,
    My child has been diagnosed with SMS recently at 3 month but no symtoms yet. What do I expect? How is your child doing?

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    1. Hi Beenish,

      Congratulations on your child. When Finleigh was that age, she was so snuggly and happy. She had feeding issues because she had a hard time swallowing properly which meant that she sometimes inhaled her milk, but we enjoyed her so much.

      She is doing quite well now. She is a loving, affectionate child. She adores everyone in her life and is well loved by those that know her. She is in grade 5 and 10 years old. She is small for her age, but what she lacks in height, she makes up for in personality. She is in class with her typical peers, but has an aide and has a lot of pull outs during the day to teach her at her level. We have her on a few medications that seem to be quite effective. She generally sleeps through the night (although not always). She loves her electronics and has a great memory for people and things that have happened in the past. Her behaviours can be challenging and she takes a lot of our time, but she’s the light of our lives and we adore her with everything we are.

      Every child with SMS is different, and yet they have so many similarities. When it comes to what to expect, our children are on a spectrum, so there will be some differences. But generally, our kids will be late in their milestones. They’ll sit late, they walk late, they’ll talk late. But they WILL do all those things. And once they start talking, they will not stop, so enjoy the quiet ;). Their sleep will be an issue, as you’ve probably gleaned. There are different strategies that people use to deal with it once their kids become mobile. I’d be happy to walk you through those options when your little one is older. Her behaviour issues began gradually starting at around 18 months. Since we didn’t get her diagnosis until she was 6, we really didn’t know what was going on.

      But for now, I think the important thing is to enjoy your little one. Love them where they’re at. Take all the help you can get. Rested parents will be better for their kids.

      Where are you from? I’m in Canada. If there are government supports, take them when they’re available. When Finleigh was little, it involved being reimbursed for medical trips to the city 4 hours away from us. Later it meant therapies. Now we receive respite. It all helps and I am thankful for all of it.

      Please feel free to contact me anytime you have any questions or want to talk more. I'm here.

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  7. Hi Amanda,

    I have enjoyed reading your blog and in a way find some comfort knowing how your daughter has such beautiful qualities.
    My son is now 10 weeks old. When he was born he went to the NICU because I had contracted listeria at 37 weeks of pregnancy. We were told he had to stay 48 hrs for a treatment of antibiotics to fight the listeria in case he contracted it. 48 hours turned into a week because he had issues feeding, he had not quite grasp the concept of suck, swallow, breath. During his stay the doctor said that she had noticed some physical differences and wanted to run a chromosomal testing or DNA testing. She said that these physical differences could cause developmental and intellectual delays, but she wasn't 100% sure and if she ran this testing we would have a better picture as to whether there was an issue or just how he was developed inutero. At 7 weeks old I enquirer from his pediatrician if the results came in, that's when he told me. The testing found an abnormality in chromosoma 17, it is missing a small piece. The syndrome is called Smith-Magenis. He read the results and calmly said that there would be developmental and intellectual delays. I calmly replied with we will do anything we can to give him the best life. When I left his office it hit me, I called my husband at work and asked to have a few minutes of his time.
    I began to cry, uncontrollably because I did not know what SMS was or any of the characteristics, this was the unknown and that scared me. He assured me that he is our son and we love him no matter what.
    He is 10 weeks now and while for most part I have accepted the diagnosis, I still find myself panicking.

    Thank you for your beautiful blog.

    Maria

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    1. Hi Maria!
      Welcome to our SMS family. Where abouts are you from? I want to make sure you find support. When you're ready, please go to prisms.org and find your regional representative who should be able to get you set up with local supports or connect you to other families who live close. Or email me at ahdowney(at)me(dot)com. Im happy to talk with you anytime. This life with SMS is a roller coaster. It will be hard at times, but just know that with the lows come the highs. When they do walk and talk... the wait will be worth it. And no one loves like and SMS'er. Just this weekend, we were at a family wedding and not one person in my extended family can resist her charms. She's 10 now. It's been a good age. I hope you get this message. I would love to chat more. All the best!

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