SMA

August is SMA awareness month and I can't seem to allow myself to let it slip past without acknowledging it...really, I've tried ignoring it all month.

There are several wonderful organizations run by dedicated families who endeavor to find a cure for SMA.  It's the leading genetic killer of infants and to find a cure would be nothing short of miraculous.

Spinal Muscular Atrophy is genetic which means it is hard-wired into every part of the child.  It affects every single cell.  Treatments may slow the degenerative nature of the disease, but a cure would require a change of the DNA.  Do I think research is valuable?  Of course.  Particularly for those suffering from later-onset forms of SMA who may live longer, some even into adulthood, and benefit greatly from the various forms of genetic therapy being tested.  Would I love to see a cure? Absolutely.

But our experience with SMA has given me perspective.  And rather than pouring my energy into seeking a cure, I would choose to advocate compassion.  Choice.  Understanding.

For a family blind-sided by a tragic diagnosis, pie-in-the-sky scenarios are not kind.  We sat across a table from two doctors: one stuttered and stumbled and encouraged "some live to be 8 years old."  The other doctor was the kind one.  "No, that is not realistic.  She has no more than a year."

I can understand a parent's desire to do everything in their power to save their child.  Everything that might help.  But for Annabelle, whose symptoms were already glaringly present at birth, extreme measures would have done nothing to help.  Hooking her up to machines in a hospital bed may have given her a little time.  But they would not have given her life.

I spoke with a mother who suffered years of emergency proceedures with her child until someone finally had the compassion to recommend paliative care.  No one wants to embrace the death of a child, but this mother felt relief - she didn't need to put her child through such torture any longer.  She could take him home to live the life he had left.  Why hadn't they told her sooner?  She didn't even know it was an option.

I still can't think of Annabelle's diagnosis day without feeling sick to my stomach.  I still get angry.  I hated the idea of hospice.  But I am forever grateful that it was an option.

So here is a short list of things that I would like to spread awareness about in the shadow of our experience with SMA:

1. Every few minutes, a family receives the worst news they could possibly fathom.  Terminal diagnoses affect regular families from all walks of life.  Fatal illnesses do not differentiate between classes, races, faiths.  They also don't come with signs.  Have compassion.  Tread lightly.

2. Hospice care (for both adults and children) is necessary and worthy of excellent doctors and nurses.  The nurses who helped us care for Annabelle are part of the only children's palliative care program in Southern California.  You can support our local children's hospice care, TrinityKids, by going to http://california.providence.org/trinitycare/giving/

3. Every diagnosis is different.  Families need grace and the chance to be informed and evaluate what is best for their situation.  There is never an easy choice.

4. Cure SMA (formerly Families of SMA) supports families currently impacted by SMA.  They provide recources for newly diagnosed families as well as endeavor to find a cure.

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I will end with a picture that I don't think I've ever shared of Annabelle.  It's one of my very favorites because it so perfectly captures who she is.

Sweet, bright, beautiful.

But I also hate it.  At 2 months and 7 days, she had no neck control at all so I had to hold her head for her.  She died the next day.  I hate everything about SMA.  But I love this little gal so very much.