Reactions

           As Eden gets older her disease gets more and more noticeable. She is now 14 months old, when she sits upright in her pram she looks so normal. I go into town with her all the time and into stores, people 'goo' at her and some even start asking me questions; "how old is she? OH, has she started walking yet? Does she crawl? What can she do?" All the dreaded questions at once from a perfect stranger. "nothing. She cant."
The reactions are different, from sorrow to disbelief. I'm getting used to it now. I have to because shes getting bigger and soon everyone will know. I wont be able to pretend.
          When we first found out Eden had SMA the people around us dealt with it differently.Some with a realistic hardness. Some with over optimism, that everything will be okay if we just believe it to be that way. While others kind of disappeared not knowing what to say or how to react.
My mum told me a story once of a friend of hers who had just lost someone and how she saw her friend walking down the street towards her, panicked and crossed the street. Feeling guilty she crossed back over and without knowing the 'proper' things to say gave her a big silent hug. She recalled that years latter she bumped into this same friend and how her friend remembered that hug and how much it meant to her. She had seen my mum cross over and appreciated her coming back.
I'm realizing now that when something happens and you say to yourself, they will call me when they are ready to talk, is all wrong. Most people even if they don't want to talk at that particular moment appreciate that you are thinking of them :) I realize that all my previous assumptions were wrong and i really appreciate all the people who made sure to call all the time!
         Eden is doing really well! Such a chatterbox.When we eat i usually put the radio on in the background and the other day i noticed that she was singing something and suddenly i realized it was the radios jingle 'gal gal gal galatz' each time after a song it comes on and she sings with it! i couldn't stop laughing.
She also just started hydrotherapy with a new instructor. I'm really happy about it. Eden likes her and i think its going to be good.




 

Inside the garden

        Eden is such a great kid, She is the perfect baby.  
Since she was a month old she started sleeping almost 6 hour nights. I don't know what its like to be sleep deprived, I cant imagine it. Sleep deprived moms are superwoman to me. 
At the moment she usually sleeps 12 hours straight. I defiantly get my beauty sleep!
      All in all Eden is a happy girl, we can have whole days without her really crying. When she wakes up in the morning or from a nap i hear her playing with her teddies, talking to them.
She is so calm and alert and of course i  think she is the smartest baby out there ;)
The only time she really cries is if someone she doesn't know is too enthusiastic and in her face. She is shy like i was as a kid and doesn't trust people she doesn't know. But she is getting better all the time. Now she only frowns.
She also will cry if we are doing an exercise in physio that is difficult for her. We have physiotherapy twice a week. The rest of the time i do exercises with her at home.
Mainly it is to keep her muscles strong. Eden loves her physiotherapist, Adi, and is always trying to impress her. Three weeks ago we got a stander. This helps Eden put pressure on her legs to keep them strong and prevent contractures. At the moment she can only stand for about 25 minutes at a time before having a hard time. It is difficult for her to hold up her head at the angle of the stander but it is also helping with her head control.

    A month ago we had a meeting in Alyn hospital, it is a great rehabilitation center and has quite a few SMA kids. http://www.alyn.org/  There we meet with five different specialists who each checked Eden. The Respiratory doctor who checked her lungs told us the best news of the day, that her lungs are fine and healthy. This was great news because breathing is one of the biggest problems with SMA kids. He said that the fact that her lung aren't damaged is encouraging also that she eats well is a good sign.  Eden has been eating solids since she was 4 months old. She is a good little eater.
    According to the specialists in Alyn Eden will have no speech problems and hopefully no breathing or feeding problems. So it was very encouraging!
They also have a special daycare that has a pick up and drop off service. They are offering us one on one hydrotherapy, physiotherapy and equipment. In a few weeks we have a leg brace fitting and a special corset fitting. This will support her back and help her sit straight.   
    Some days i feel so positive and Eden does so well. Then there are those few days that some  random thing will set of a string of hopelessness . This mostly happens when Eden is asleep or if she is unusually weak. When Eden is awake and happy i almost forget she has SMA. We read a lot of books and sing songs, do our exercises which we make fun and we have a great time. Eden talks more and more every day. She started singing parts of songs and is just so adorable! We have a lot of support from Family, friends and Alyn.
Thanks for being there for us!

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 :)