I have been reading other SMS mom's blogs and decided its time I start one!
What better what to start then by telling you about Autumn!
Autumn who is now 3 has Smith Magenis Syndrome (SMS) It is a deletion is Chromosone 17, it is a very rare syndrome so I am not at all suprised you are going to google it!
We were lucky enough to get Autumn's diagnosis at a very young age.
When Autumn was born she didn't cry, as any new mother would do I started to ask questions, why isn't she crying? Is she ok? Is everything ok with my daughter?? All of the nurses and doctors assured me everything was fine she needed to be suctions out and then i could hold my beautiful 10 pound 1 ounce baby girl and I did!
A few days later we were still in the hospital (autumn was orange and needed to be in the tanning bed for a long time), it was the thursday after I gave birth to her and the pediatrician who was looking after Autumn came in and said to me " we have found something wrong with your daughters heart we have sent her for testing" and walked out of the room..."WHAT". Yes i was in shock and as any mother would be i was hystarical how could someone come into my room and say something like that but give no explaination, was my daughter going to be ok? is she in this hospital or has she been sent to CHEO? so many questions but no one to answer them. That afternoon I had a nurse come in and ask me why i was so upset, silly question I thought considering the situation, she took me down to the nursey where my beautiful baby girl was tanning in her bed and told me everything was fine Autumn has a small heart murmur and i will be seeing a cardioloist at CHEO! She then asked me who Autumn was going to see when we go home, I was a little confused, I didn't know she had to see a doctor when we went home unless she was sick and if that was the case she would see our family doctor, but she informed me in order for us to be discharged Autumn would have to see a pediatrican within 72 hours of being discharged and she then handed me a list of "well known" pediatricans in our area.
I went back and started at the top of the list and finallly found someone who was able to see Autumn! Great news.
The day of our appointment we walked into this "small" doctors office and to my suprise i heard his receptionist telling a patient he would be retiring, I looked at Jarvis and i said " seriously he is retiring why the heck are we here then" But we stayed....When we were called into the exam room we went in and he instructed us to get her undressed, he was listening to her heart and her chest and he examed her for about 3 minutes, he had this look on his face, a look i will NEVER forget. Jarvis asked what was wrong with her and asked why he had this look on his face, I started to explain that we were aware she had a heart murmur and we had been refered to a cardiologist at CHEO, he told us to get her dressed and go into his office.
Immediatly I started crying, what could he possibly need to talk to us about. When we went into his office he had a bunch of books opened, they were turned to Down Syndrome.
I will NEVER forget the way this conversation went "what your daughter has is down syndrome" that was it mommy was flying off the handle. "what makes you think she has down syndrome? look at her she doesn't have any of the facial characterists of down syndrome? How could you make this diagnoses you looked at her for a whole 3 minutes?" he replied by saying "she has these creased in her hands and neck and she has very low muscle tone" now mommy is completly freaking out on this doctor " you are diagnosing my daughter by creases in her hands and neck? of course she how low muscle tone she is 10 pounds, what do you want me to do get her a gym membership" He handed me a paper for blood work and suggested we go and get tests done, I suggested he go back to medical school and ripped up the blood work forms.
A few days later we went to CHEO, who would have thought this visit would change our lives for ever!
As a new mom I was a little concerned after our first doctors appointment so I mentioned to the cardiologist that we had this appointment with this pediatrican and he mentioned down syndrome, the cardiologist thought he was wrong but offered to refer us to genetics, I thought about it and decided that may be a good idea just so I could breath a little easier! We went in for an ultrasound on Autumn's murmur and the cardiolist came in and said "could you guys hang out for a few hours the genetist can see you at 1pm" ofcourse we can hang out considering the waiting list was over 6 months long!
Off to genetics we go!!! We met Dr. Gayle Graham in genetics, she looked at Autumn and said she also felt Autumn had down syndrome. By now i was shocked, this was not the news i was expecting to hear at all, I thought i would go into this appointment and come out being told I had a healthy happy baby girl and there was nothing to worry about but this i was not expecting at all. I asked her why she felt that and she said well Autumn has low muscle tone, again with the muscle tone. An average baby weights between 6-8 pounds Autumn was over 10 pounds at birth and at this appointment she was closer to 14 pounds at just over a week old! But hearing from a genetist that this was a possibility i decided to go ahead and get the blood work done!
A week passed which was obviously without a doubt the most stressful week of my life, everytime the phone rang I would fly off the couch to answer it, i didnt leave my house in case the phone rang and i pretty much watched the phone 24 hours a day! Then she called and said just what i expected "Autumn's test came in and she does not have down syndrom" DUH I knew this already mommy knows best right?? Then she continued and said but the lab is running a few more tests they do see a little chromsone inbalance, so we schedule a follow up appointment for February 29th 2008.
I hung up the phone and i clapped, I cried, I jumped up and down and i was on top of the world, this was the news i wanted to hear, deep down i always knew the test would come back negetive but now i have heard it from a medical professional!
February 29th 2008 the day officially changed our lived forever.
We went in to see Dr. Graham and she said well we performed a fish test and Autumn and we found that Autumn has Smith Magenis Syndrome...WHAT?? What is this syndrome you say? I have never heard of this at all, what is going to happen to my little girls.
The first question I asked was "is she going to live a full life" and yes she SMS does not change your life expectancy- GREAT now lets move forward if its not life threating mommy and daddy can handle this.
"Now what" I asked Dr. Graham and she looked at me and said "I dont know I have never diagnosed SMS before, I have never treated SMS before I think this is going to be a learning experience for both of us, Autumn will teach us about SMS"
After hearing this all I could think about was "I wish Autumn had down syndrome" Ironic?? Yes but atleast Down Syndrome is known, at least doctors have heard about Down Syndrome and have treated it before, but this "Unknown" sydrome I am not sure of.
Her next instructions were simply, do not go on line and google this, you are going to get so many different websites, you are going to get over whelmed and a lot of the information may not be correct, she then handed me a prism page and told me that was my best resource for information.
3 months passed and I decided it was time, it was time to learn about SMS it was time to educate myself. At that time I came across NING, and invitation only website for parents with children with SMS. I was jumping up and down yet again I have found people who may understand and people who may be able to help me. I started writing and email to Emma who quickly responded and sent me an invite to NING.
Little did I know at that time how much NING would change my life, I was connected to people all around the world, people who live SMS life daily, people who can relate, people who have the answers to my questions people I would soon call my "SMS family".
Looking back today to 3 years ago being diagnosed with this "unknown" syndrome and all of the emotions i had going through me I had no idea in the end it would make me meet some many wonderful families, I couldn't imagine my life without any of these people in it! They have picked me up when I was down, and helped me celebrate all of Autumn's Milestones.
In these last 3 years I have found out that Appointment on February 29 2008 didn't change our lives for the worst it in fact changed our lives for the Better! I love SMS and I love everything that comes along with it, Tantrums, outbursts, self injuring behaviours, sleepless night, and of course all of the wonderful people you meet along the way.
Our Journey continous.....
