Just being a typical child!!!

I have been pretty horrible at finding time to blog regularly as planned, i see several things that happen in our daily lives and think this would make a great blog but by the time i get around to blogging i have to choose to either sleep or blog and well as much as i enjoy blogging sleep trumps blogging :)

For the last few weeks Autumn has been sticking her fingers in her ears, a lot of kids do this as there way of "ignoring" there parents, but when autumn started doing it my first thought was "here comes another ear infections"

Autumn usually LOVES when her daddy sings to her, actually when she was a baby he had recorded a few songs anytime she would get fussy i would put it on and it had an amazing calming affect on her, he used to sing her to sleep almost every night and she loved it. This weekend they were in the car together and he was singing when he looked back at her she had her fingers in her ear tuning him out, when he told me after i stopped laughing i said "I think she is coming down with an ear infection dont take it personally".

Later that afternoon I was talking to her and she again put her fingers in her ears and walked away, i took it a little personal but thought "she is coming down with an ear infection".

I went ahead and booked her a doctors appointment.

Last night she was having a very "off" night, more tantrums then normal and she was just not her "autumn" self, my mommy instince said "this must be the ear infection bothering her" I suggested that Jarvis take her to the walk in clinic and get her checked so we could start treating it immediatly.

He called a short while later and said "Autumn doesnt have an ear infection". I was shocked how could she not have an ear infection, she has been putting her fingers in her ears for the last few weeks, i am sure something is wrong with her ears, perhaps we should get a second opinion and then it was brought to my attention:

AUTUMN IS BEING A TYPICAL CHILD AND IGNORING US!!!!!!

Although this is a phase that i am not going to enjoy now that i know she is intensionally ignoring mommy and daddy, it is not very often i get to say "she is just a typical 3 year old", this is not something i am going to have to explain to the daycare when i drop her off, and this is not something i will have to explain to other parents or family members. If autumn puts her fingers in her ears she really is ignoring you, she is giving you attitude, she is being 3!!!!!!!

Our Big Suprise

As many of you know SMS is a very rare syndrome there are about 600 cases world wide.

We have been very very fortunate and we were introduced to a family who live in our area (thank you shannon), It was some of the best news i ever received when i was told of this other family, we met them and there little angel and connected instantly, i actually consider D & J to be close friends of ours even though we just met we have one major thing in common 2 SMSer`s! They understand our daily life and can relate! It is great having them so close by and i am very excited to have Autumn grow up with someone who can understand what she is going through and relate, i know they are going to grow up being best friends!

Before we were introduced to D & J we had only ever met one other Family, Brandi and Sid, they live about 12 hours away from us and we decided to drive up there for our honey moon, it was amazing we had FINALLY met the Wilson`s, it was so worth the drive to meet such an amazing Family. Jarvis and I actually spoke for months after about picking up and moving there just to be near them!

We are planning a Trip to Ohio in September to meet other SMS families and I am so Excited I can not wait to meet all of them, I am pretty sure Brandi and I Drive Tina nuts with our count down, I remind her at every opportunity how much time is left (4 months tina). I am so excited to meet so many new families but i am so excited to see Brandi, Sid, Lil Sid, LILLI and jack again I can not wait to catch up with them!

The other day on my way home from work I was thinking and i realized that we have a long weekend coming up in May and we have NOTHING planned.....unbelievable if you know us, we are always busy but we have 3 days of nothing going on, and at that moment i heard brandi say `come and visit`. I immediatly picked up my phone and called Jarvis and he agreed that we should go out and visit the Wilsons.

THE PERCY`S ARE GOING TO SEE THE WILSONS!!!!!!!

I can not wait!!!!

That is my big secret....betcha thought i was pregnant eh!

See you MAY 21`S BRANDI :)

Autumn and Mommy's slumber party

As most of you are aware SMS children/adults dont have the best sleeping patterns, well Autumn's sleeping pattern seemed to be getting better, she ran out of melatonine a little over a week ago and she had been sleeping great!! Well I think mommy started bragging a little too much because last night Autumn decided she didn't want to sleep!

Around 11pm she started screaming, which for Autumn is very odd. Usually if she is awake through the night she will get up and play quietly in her room very rarily do we ever hear her or even know she is awake except for her entire room being torn apart! Anyway she was screaming so I had said to jarvis perhaps i should head out to get Autumn some melatonine he agreed and said in the mean time he would bring her down stairs to try and settle her.

Off I go to get Autumn some melatonine in hopes to get some sleep, it had been a very busy weekend for us, and mommy was EXHAUSTED!

I get to shoppers drug mart I found the melatonine and i started walking up to the pharmacist to check out, he looked at the melatonine then he looked at me then back at the melatonine and said "judging by how tired you look this even i dont really think you are going to be needing this melatonine to get to sleep". All I could do at that moment was chuckle, if he had only known i had a 3 year old at home who may not sleep for days if she had it her way! I decided not to explain but instead to chuckle, it was between chuckle and scream at him....and since it wasn't his fault i was exhausted i went with chuckle.

On my drive home i kept thinking perhaps Autumn had fell asleep and i had "wasted"all of my time going to shoppers to get this melatonine, but sure enough when i got home Autumn was there to greet me with a big smile, big wave, and sure enough big eyes wide awake.

We gave her some melatonine, some milk, and a bananna and i was sure she was going to be out in no time at all.

a few minutes after she settled I took her upstairs to her bedroom and decided i would lay down with her, mommy never lays in bed with Autumn so this was a special treat for both of us. We were laying in bed and usually if Autumn thinks you are sleeping she will follow your lead and close her eyes and go to sleep....not the case last night!!! I closed my eyes and went to "sleep", Autumn says "momma....momma...momma"while rubbing my face, obviously i could not help myself but laugh. A few minutes later I went back to "sleep" and i was sure she was following my lead this time it was silent for a few minutes then "momma...momma...momma"and she is peeling my eye lids open, again mommy cant control herself and I am laughing. Finally I get her settled and we are laying there in silence and I am actually not almost a sleep, Autumn grabbed my hand and said "Momma I ove you" and then fell asleep seconds later holding my hand.

All of a sudden the mid night drive to shoppers didnt matter, the exhaustion all wore off and I was on time of the world! for 3 years I have been telling my baby girl I love her every day and for 3 years i have been waiting for the moment when she would say it back to me and FINALLY she has said "momma I ove you".

After Last night I look forward to Autumn and mommy's next slumber party!

3 Years and our journey with SMS is stronger then ever!

February 29 2011 is our 3 year anniversary living with SMS.

Wow 3 full years have past since we were sitting in that Dr’s office waiting, anticipating and hearing those life changing words.

First off I NEVER would have survived the last 3 years without my best friend and rock, Jarvis. Most of you don’t know but I got pregnant with Autumn very early in our relationship. We were together for 2 weeks when I found out I was pregnant with Autumn. When she was diagnosed all I could think about was “is he going to stick around”. I wasn’t sure, I mean we were just told our baby girl has special needs and no one knows what we are to expect, all we know is we can expect some pretty bad tantrums, behaviors, and we will get little sleep.

When we got in the car after her appointment I was very upset, the first words out of his mouth were “I am not going any where, we are in this together, and we will get through this”. At that moment 10,000 pounds were lifted off of my shoulders, I have someone to turn to when I am at my breaking point, and trust me I turn to him daily when I am at my breaking point.

I remember the first time Autumn started having bad behavior issues, She was having a tantrum and banging her head off of our hard wood floors, my heart broke. I could not believe what I was seeing; I hadn’t seen anything like this before. After the tantrum was done I went to our bedroom and cried, it wasn’t long before Jarvis was coming up to check on me and again reassure me we were in this together and we would get through this and get the tantrums under control.

There are many days I think “what would I do without him”. To be honest I am not sure, obviously I would pull through but I would probably have a drinking problem!

In the last 3 years Autumn and SMS have taught me so much! It has been the biggest learning experience of my life.

Patience: Patience is a must when dealing with any child, but when dealing with special needs child you learn how to be patient, Autumn has taught me that with time she will do everything a “typical” child does, you just have to be patient with her.

Determination: Autumn is without a doubt the most determined person I have met, she wont stop trying until she accomplishes her goal, if she see’s one of her peer’s doing something she must learn how to do and she will accomplish her goal maybe not that day but she wont stop trying until she finally gets it right.

Strength: Autumn has low muscle tone for a “typical” child to roll over it is a milestone, for a “typical” child to walk it is a milestone, for Autumn it takes months upon months upon months to build the strength requires. Autumn has more strength then I could have every hoped or prayed for, she will hit every milestone regardless of SMS , she just requires more strength then a “typical” child.

These are only a few of the things I have learned over the last 3 years, there are so many more but this blog would never end, I could go on for days!

SMS has taught us more then any class could teach us, or more then any book could explain.

The last 3 years have been the best 3 years of my life, I have been taught more then I could ever imagine, I have met some amazing people along the way, and I have had the opportunity to not only learn about a rare genetic syndrome but also education others.

I believe everything in life happens for a reason, if you asked me 3 years ago why Autumn was diagnosed with SMS I would have said “because the world is against me”, If you ask me today I say I have been given Autumn because she is an amazing little girl who has so much personality, so much love to give, and is all together an amazing little girl who teaches me the meaning of life everyday, there is not one day I would want her to not have SMS, even when I have hit rock bottom she makes me feel like I am on top.

Autumn is an amazing Daughter, and an amazing big sister. I love every part of her including the sleepless nights, and the tantrums that sometimes last for days, without Autumn in my life I would not be the person I am today.

I Can’t wait to see what the next year holds!!!!!!

1,2,3

As most if not all SMS parents know a child with SMS has delayed speech, Since Autumn has turned 3 we have been hearing so much more speech it’s almost as thought she waited to turn 3 and then decided “ok now I will talk”.

On Monday morning I was laying in bed with Mia and Jarvis was down stairs, Autumn came running into our room and picked up a paint roller (we are in the process of painting our house). I said “Autumn come back in here please that’s not a toy”. She continued to run around from room to room with this paint roller, I said again “Autumn please get back in here mommy is not playing” Again Autumn continues to run around in between bedrooms with this paint roller. Finally I said “Autumn mommy is not playing come back in here right now don’t make me put you in time out”, ones again mommy is ignored and Autumn is running around laughing at me.

Finally I say “1” well little Miss Autumn runs around the corner and yells “2” and then runs away.

What is a mom to do at this point? I have waited so LONG for my baby girl to talk and now not only is she talking but she is counting??

I obviously laughed and cried!

My baby girl as reached yet another milestone that we tried so hard to get her to reach, now I know why so many parents said to me “Be happy she’s not talking she can’t talk back”. I finally got to experience “Autumn talking back” and I LOVED it! (For now)

What is this precious little girl going to accomplish next???

January 29th 2008 a day I will never forget

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.....