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| Ella Sabine Casten (14 months old) |
Ella has Spinal Muscular Atrophy (SMA) Type 2.
The diagnosis was confirmed on August 12, 2011.
Her motor neurons are dying and will continue to die.
For Ella, her SMN1 gene (located on chromosome #5) is not producing a protein called Survival of Motor Neuron (SMN). This protein is responsible for keeping the motor neurons alive. She produces some (through copies of the SMN1 gene that mother nature has so brilliantly provided), but her copies are not sufficient to do the job as well as the original would have. Her physical growth and the demands placed upon her muscles will far outweigh what she can produce.
As increased nerve denervation (loss of nerve supply) occurs, she will grow weaker over time and her muscles will atrophy from non-use. This rare genetic disease is in the same family of diseases as ALS (Lou Gehrig's Disease); only it is not as aggressive.
Currently her legs and trunk are the most severely affected. Other muscles in her body will be affected over time. This is a progressive, degenerative disease. Currently there is no cure. Prognosis is unknown and varies widely for children diagnosed with SMA type 2.
What do we do now?
One thing we do know: Her respiratory system must remain healthy and strong; this is vital to her survival. Keeping her intercostal (rib) muscles strong to cough hard enough to expel any congestion is the key to preventing infection from setting in.
Our minds are filled with what we are to do. And those things will happen. The family education, the orthotics, the doctor appointments, the adaptive equipment, the modifications to home, car, life, the insurance, the medical bills, the support groups, and so much more. Those things will happen.
I guess the question that really needs to be asked and answered is not "what will we do?" but rather, "What will we BE?"
It is in the "being" that we will produce the highest quality of life for our family.
It is in the "being" that we will find out who we truly are.
It is in the "being" that we will find the strength to do the things we need to do.
Our choices seem endless. There are so many ways to "be" in relation to all of this. The spectrum of emotions can be overwhelming at times; the expression of these emotions equally so.
There is one choice, however, that really exists....
...it is the only choice we really have...
...it is to love her.
Ella is going to need much in her lifetime. She is going to need a lot of help to find her way to the path of greatest independence. She is going to need much in order to survive as long as she can.
What she'll need above all and what we can offer her in abundance is love.
We can do that...
