Trouble in Eden

I'm used to writing with pen and paper and keeping my thoughts private. But a lot has been going on lately, my thoughts are all jumbled up. So many people want to know whats going on and this seems like the best solution.

        Around two months ago we found out that our 12 month old daughter, Eden, has SMA- Spinal muscular atrophy. Type 2.

Which is according to the SMA sites:

Eden Leah

 " A genetic disease that affects the motor neurons of the spinal cord and brain stem. These cells are responsible for supplying electrical and chemical messages to muscle cells. Without the proper input from the motor neurons, muscle cells can not function properly. The muscle cells will, therefore, become much smaller (atrophy) and will produce symptoms of muscle weakness. "

 It is the number 1 genetic cause for infant death and yet no one i know has ever heard of it, not even some doctors! 

So here we are having NO known history of any genetic problems in our families, to be told that 1 in 40 people are carriers. 1 in 40 is a LOT. OK, true, both parents have to be carriers to pass on the two mutated genes onto the child. So its a 1 in 4 chance if you are both carriers to have an affected child.  Tomer and I both carry one mutated gene.

    I, from the moment Eden was born, had this feeling something wasn't right. Her hands would shake and she seemed to me to be a bit floppy but she was so alert and happy that it was dismissed . She would move around a lot when she was just a few months old. I remember putting her to sleep and in the morning finding her upside down! She loved to be on her stomach and would lift her head. Everyone thought she was fine and i was a paranoid first time mum. 

lifting head

    At 3 months she suddenly hated being on her stomach and would scream. It seemed as though she couldnt raise her head anymore. The shaking was still there as well. The doctors told me that shes fine, every baby has their own pace but i knew something wasnt right. I even  looked up all her symptoms on google and got to motor neuron diseases. I remember being so scared it was that! I cant explain it but i Felt in my heart it was. I think i even cried. I told my husband and family what i found and they were so angry that i googled it and warned me that its a dangerous thing to do. I told them they were right but never stopped looking things up.

     At 5 months i decided that she should be doing more that its not normal for a baby to stop doing things. I demanded a doctor take a closer look and they told me she has hypotonia and needs physiotherapy but not to worry because its common.  I never believed them that it was only that and people started calling me pessimistic. I really wasn't! I just felt something was really wrong but i really hoped that I was wrong, i really did. 

I guess you have to understand why everyone brushed me off. You see Eden is very alert and so happy. She doesn't ,to this day, look like anything is wrong with her. She sits in her pram playing with her toys gabling away. (she is such a talker) Only when holding her can you feel that she is weak. Try stand her up on your lap and her legs will crumple.

Happy Family

    The first person to take me seriously was our physiotherapist. She saw all the things i had seen and sent us to a neurologist. He thought it was something to do with her nerves. I remember asking him if he thought she would ever be able to ever walk. He said he couldn't tell me but that walking shouldn't be the highest worry on the list. first it is will she be able to communicate?  Independence? then walk...

 He then sent her to do A EMG test which was no fun at all! After getting the results a group of specialists agreed that they think it is SMA And got Eden to take a blood test. 

That blood test confirmed our fears.

I think i wasn't as shocked as others in the family, i guess because as i said above i felt something was wrong and had several breakdowns before. I always hoped that it wasnt. But i was also Relived? that i finally knew what she had and could do what is best for Eden. 

We are now making sure Eden is keeping strong. She is going to go to a special day kindergarten called Alyn, where she will get the treatment she needs. I guess more on that later...

Happy Girl :)