Rock Creek Molding donates a portion of all Flarble sales to Families of Spinal Muscular Atrophy. This foundation is dear to our hearts because our friend's daughter, Tori, was born with Spinal Muscular Atrophy. Here is her story.
Have you ever stopped to think what it would be like if you couldn't run, walk, stand or even sit on your own? Can you imagine not being able to eat your favorite foods or not being able to go to a best friend’s sleepover party? This is Misty Partee sharing with you Tori's story, my beautiful 5 year old daughter who has Spinal Muscular Atrophy (SMA). I'd like to share with you how this has affected my family- starting with Tori's diagnosis, learning to cope and searching for a cure.
Tori Nicole Partee was diagnosed with SMA the day before her 1st birthday. When she was born she had tremors in her tongue and fingertips and also had acid reflux, but was told by the doctors not to worry that everything seemed well. We came home from the hospital after she was born and thanked GOD for our perfect little angel. She was so beautiful and we couldn't have been any prouder. By the time Tori was 4 months old I started noticing things that concerned me. She was a little behind in rolling over and her head control. She was a fussy eater and her acid reflux was so severe she could not keep food down and was “failing to thrive”. Despite my concern the doctors assured me not to worry yet. They said “lots of babies go thru this, and all will probably be fine'. So, we decided to just watch the situation and continue on. By the time Tori was 9 months old she was doing much worse. The things she struggled with before, now she was not doing at all. She was not rolling over and not sleeping well at night. We started doing simple, non-invasive tests to determine the problem. After a few months of testing at her pediatricians office we decided to admit Tori into Arkansas Children's Hospital in Little Rock to do multiple testing that would speed up the process. After 4 days of testing, Tori's neurologist decided to run a test for Spinal Muscular Atrophy, although he told us he didn't believe she had it. We had done all of the simple blood tests except for this one and the next round of testing would be invasive, meaning surgery, so the doctor advised we should do this last test before we started the next ones. He said, “We really don't want her to have this”. After a month of waiting for results, 1 day before Tori's 1st birthday, we received the results. The test was positive, Tori had been diagnosed with SMA and this is when our world fell apart.
Learning to cope with SMA was very difficult for my family. We came home and had the saddest birthday party you could imagine. I can remember everyone had on fake smiles and wouldn't make eye contact with us. Everyone pretended that nothing was different, but they were not really able to pull it off. It was unbelievable that this could be happening to us.
There is no treatment and no cure for SMA.
Some facts we were told are:
SMA is the #1 genetic killer of infants
1 in 6,000 babies born are affected by SMA
1 in 40 people are carriers of the gene that causes SMA
50% diagnosed with SMA die before their 2nd birthday
There are 4 types of SMA. (Type 1 being the most severe-Type 4 adult onset)
We were told to “take her home and love her”. As sad as we were, I am a fighter and I was desperate to find more out about SMA. I went to the internet and that is where I found Families of Spinal Muscular Atrophy at www.fsma.org. This is a non-profit organization for families and researchers. I saw on this website there was an upcoming conference to educate people about SMA being held in Shaumburg, Illinois. Three weeks after Tori's diagnosis my husband and I found ourselves standing in the lobby of the Hyatt Hotel surrounded by children in wheelchairs. It was more than I could handle and I started to cry. This was not the life I had planned for Tori. I couldn't help but think that our lives were over. I just stood there until a young woman came over in her wheelchair and asked me if I needed help. I told her we needed to check into the conference and she showed me where to go. She stayed with me until we were settled with our information package, told me not to worry, that everything would be okay. We learned so much in that three day conference. We walked in the lobby of that hotel with no hope; there was no cure and no treatment. When we left, we had a whole new, fresh outlook on our situation. We met a 41 year old lady with SMA that was married and has 2 healthy little girls. We learned that those diagnosed with SMA have a higher IQ than the rest of us. We learned that a lot of children with SMA grow up and go to college and have careers of their own. There, we learned about feeding tubes, cough machines, bi-paps, ventilators, suction machines, using oxygen, AFO's, standers, wheelchairs, spinal surgeries, vest treatments, CPT treatments along with other valuable information. All these things were things that we could to to improve Tori's life-we went home with
As soon as we returned home we put a plan in action and Tori's life took a new turn. She started using cough and suction machines and bi-pap-which she eventually changed to a ventilator. We had a feeding tube and nisan surgery that would help Tori to get her nutrition and be able to keep her food down. She has had a spinal surgery to correct scoliosis and help with her lung functioning. Since her last surgery she hasn't been sick as much and has had fewer hospital admissions. She receives occupational and physical therapy as well. We are so proud of Tori and all that she has overcome. We learned that there is always something you can do. The fact that Tori is here today reinforces this. After a few months of learning to cope with SMA, God gave us a peace that we hold to daily.
We now spend our lives as a very happy family and try to give back to the community by informing those around us about SMA. We would encourage anyone to be tested to see if they are carriers before they have children. You can find out by doing a simple blood test. For your child to have SMA both parents must be carriers. If both parents are carriers, then the child will have a 25% chance of having SMA. By being informed you can make educated decisions for your family and also help to spread awareness to others about SMA. Families of Spinal Muscular Atrophy raise money to help fund research for treatments and one day find a cure! We pray each day for a cure to this horrible disease. For so many families SMA has destroyed their lives. I know, because it
almost destroyed mine.
I am so thankful to Families of SMA, my community, my husband, my beautiful Tori and most of all to GOD. I am so blessed to be Tori's mother and wish for you to understand that just because Tori can't run, walk, stand, or sit un-assisted that her life still holds value. She is smart, loving, comical, beautiful and absolutely perfect. She attends church, school, dance class, is on Arkansas Miracle League baseball team and loves to spend time with her friends and family. She has started kindergarten at Kirby School and is making lots of new friends. She also participated in Mountain Pine's “A very Special Pageant” in Feb. 2011 and received a crown for having “The Prettiest Eyes.” Her favorite things to do are shop and drive her wheelchair. I know that by learning about Tori that she will affect your life. I hope you will choose to make a difference by being informed and informing others. SMA was not the end for us. Our story is just beginning...