The National Institutes of Health (NIH) says Spinal Muscular Atrophy (SMA) is the disease closest to treatment out of hundreds of neurological disorders. And, dozens of leading scientists state that, with appropriate funding, there will be an effective therapy for SMA in less than five years.
Wonderful news, of course!
Problem is, many innocent babies fighting the disease are measuring their time in months.
Sadly, even weeks or days.
This reality hit me hard when I read an update on one of the more promising clinical trials by Isis pharmaceuticals, a company currently testing a drug in SMA infants and children.
Two bullet points in a press release made me realize the pain many families with SMA Type 1 children are going through as they deal with this horrible disease:
- [Of seven infants], five are alive without the need for permanent ventilation. The two infants who have had an event (one death and one permanent ventilation) each experienced the event in connection with pneumonia.
- Three of the infants…remain on study and had not yet reached their third induction dose on April 7. One infant died prior to receiving a third induction dose.
I found myself reading these lines over an over again.
My chest tightened slightly and my breathing accelerated as my eyes passed over the words: “one death” and “one infant died.”
Genetics were a curse……and a blessing
It’s difficult for me to get my head around the genetics of SMA.
Gaby and I gave our daughter the disease but it’s not the most severe, Type 1 form.
I don’t know exactly how our Adriana ended up with enough copies of the SMN2 gene to avoid a Type 1 diagnosis.
As a Type 2 SMA child, Adri’s muscles are weak and she can’t walk yet. But, there’s so much she can do.
She can roll on her own, throw a ball, feed herself (when we push her) and play games on her iPad.
She doesn’t need a breathing or feeding tube.
It’s because of this that we ask God to give Adri the strength to take a step, instead of to take a breath.
It’s because of this that, at this moment, I can hear her in the other room singing “He’s a Tramp,” as she and Santiago watch Lady and the Tramp.
It’s because of this that Adri is not a bullet point in a press release.
Love now, for there may not be a tomorrow
I remember starting to research SMA when Adri was diagnosed.
Our doctors directed us to the Families of SMA website where we found volumes of information.
Sometimes more than we wanted to know.
The organization puts out a quarterly news magazine, and each issue features a Loving Memories section. Although the stories made me cry, I couldn’t stop reading about the children who lost their lives to SMA.
I was amazed at the young couples smiling with their babies, knowing they would most likely lose them to the disease months, or even weeks, later.
I couldn’t understand it…………then.
But, I understand it now.
Their joy came not from thoughts of the future, or of what successes or failures their child would experience in life.
It came from living in the now.
Having the opportunity to love a creature they brought into this world, if only for a moment.
Experiencing the joy of loving something unconditionally and without boundaries.
In a strange way, maybe it’s a gift to live under such circumstances.
Of course, anyone faced with losing a child would much rather have the gift of a long life with that child.
But when you realize time is short before God calls your child home, you tend to love deeper and forgive easier.
Doctors have given us high hopes for our Adriana.
But, I’ve heard too many stories of how just one illness can bring an SMA child so close to death.
It doesn’t occupy my every thought, but I do think about it.
That’s when I do my best to offer up to God the hatred and silly worries that too often occupy my life.
And instead, I try to focus on what I should be focused on: cherishing every moment I have with those I love.