Meet Finleigh.
Finleigh has a rare genetic disorder called Smith-Magenis Syndrome. She was diagnosed just after she turned six.
Finleigh's Smith-Magenis Syndrome is caused by a deletion in the seventeenth chromosome. Deletion 17p11.2. It happens spontaneously at conception, which means it is almost never inherited and they tell me there is nothing I did that caused it.
Smith-Magenis Syndrome, or SMS, is rare and is suspected to be seen in only about 1 in 15,000 - 25,000 live births. It is, however, under diagnosed. It is multi-systemic, so causes issues in many different parts of the body. People with SMS have developmental delay, intellectual impairment, inverted sleep patterns, facial characteristics and can have problems with different organs and parts of the body. They also exhibit extreme behaviours and have self-harm tendencies.
Since I'm no expert and know most of what I know from this site, please go to prisms.org for more information.
Despite her struggles, Finleigh is a bright light. She carries around with her a contagious joy (except for during her meltdowns) and she loves. Oh, does she love. She loves freely. She loves everyone. She loves all the time. I am told that people with SMS are like this. They are beautiful people. They have a wonderful sense of humour. They add to anyone's life who is willing to give them a chance.
Our specific experience with Finleigh was that she experienced failure to thrive as an infant and due to swallowing issues, she was tube fed for 18 months before she could swallow well enough not to cause breathing issues. She didn't sit on her own until she was 1. She walked when she was 2. She only started saying more than a few words after she turned 4. She has never really slept through the night. She has plenty of meltdowns and behavioural difficulties including autistic, ODD, and ADD tendencies.
There are days when I can't breathe, thinking of the future struggles we will have with her in school and in life.
But mostly, I try to live in today. I look in her eyes and see the sparkle. I savour her hugs. I laugh at her silliness. Don't get me wrong, if I could wave a magic wand and have every one of her chromosomes made normal, I would do it in a heartbeat. I hate this syndrome. But it brings a depth to our lives that we would not otherwise have, where joy - when it comes - is bittersweet, and we no longer take anything for granted.
Now... if only I could get some sleep.
To read about our diagnosis experience, go here.
