My non-technical definition of SMA is the worst possible situation to give to a family EXPECTING a baby.

Here's how you find out about it. .

You give birth, receive good Apgar scores, have your well visits with your doctor, begin immunizations.  One month goes by and your baby missed a mile stone . You make your doctors appointment to assure yourself that every thing is fine. 6 weeks and your at a Pediatrician who tells you, your baby is "floppy" & you need to see a pediatric neurologist.  Panicked you get the first possible appointment. Your told that your baby is "hypotonic".  Best case scenario is that it is "congenial" with no known cause and they will grow out of it.  Hopeful scenario is that it is a brain injury of some magnitude and with therapy or surgery they will over come any disabilities or learn to manage and survive. Worst case scenario is that your baby has Spinal Muscular Atrophy a hopeless baby killer and your baby won't survive their second birthday. OF COURSE you only hear the BEST case scenario. You have your blood test (to detect SMA) and schedule a MRI to detect any brain injury.

The mourning process begins as you think to yourself "what did I do to my baby"?   Was it the coffee that I had during pregnancy? Was it because I had a home birth? Was it because I missed my vitamins one day? WHAT DID I DO???  Eventually you get to this; what if they are in a wheel chair and paraplegic and what if they never out grow being fed or diapers?  I’m 40 now who will take care of them if they outlive me? How will I take care of them as I get older?  Just when your about ready to put a gun to your head (figuratively speaking) here comes your family and friends who have all started researching.  Letting you know other possible things that you could have done to cause this to happen to your baby.

You sob and cry you feel pain in the pit of your soul like you never even imagined before.  You hold your baby as much as possible; you notice every wrinkle on their body every chubby little roll.  Every massage every muscle in their limbs and you feel for every bone.  You notice how their eyes change colors and try to make note of every noise that they make. You hold them as close and as tight as you can without hurting them.   And you hope and you pray to a God you have never spoken to before that they will be fine.  You pledge to yourself that with whatever medical interventions are available, on what ever continent, whatever the cost, I will do every thing possible to make them be well. You promise them over and over again that you will do everything possible to make them healthy.

But you still of course have the BEST case scenario in your mind, so you suck it up, take a deep breath, and reach to your core for all of the strength you will need to press on. You begin every type of therapy you can imagine, you contact every organization that you think can help and you read, research, and digest, decipher as much material as you can to move forward and wait for the doctor to confirm your BEST case scenario results.

Your going to be PROACTIVE so you begin writing down every  question that you can think of to ensure the best outcome and life for you nearly new born baby.  2 weeks later you’re back at the doctors office with you list of questions, bright eyed and full of hope and optimism and in comes the doctor.  The MRI results are good.  Your baby has a perfect brain and has a NORMAL developing mind and senses.  Bad news is that your baby has SMA.  And because of a recessive gene that you and your partner carry - unbeknownst to you - your baby will most likely not even live to see their 1st Birthday. I'm sorry.  Now take them home and live happily ever after. (No doctor is that insensitive . . . it's the most terrible diagnosis that any doctor could ever have to deliver . . . but stripped of emotion . . . that's what it is).

And by the way if you want to keep them alive longer here is what we can do to prolong your baby's life.  And they tell you a bunch of things that you can't here because you’re still in shock from learning that the teeny tiny, beautiful baby in your arms is going to die. . Soon. . And there is nothing on this planet that will stop it from happening.

Ok. .you thinks. .2 years. . They could find a cure in 2 years.  Of course you think you child is one of the ones in the top 5% that will survive their second birthday. . .so then you see a specialists.

At the specialist  your treated like a rock star because your child has such a hard to study disease that so few parents are willing or able to make the sacrifice of time to allow their baby's to be studied for knowledge and medical sake that THEY WANT YOU!!!! And they offer you to be part of "studies" that when you sit down and think about them don't even offer HOPE for your child, just for research.  Still you are told that m0st children with SMA type 1 usually still die from an infection from a cold or the flue before their 2. And if you have other children you should restrict their and your interaction with others to try to avoid any infections that could ultimately kill your child.  And please be mindful that because their lungs will eventually stop working and they will one day be unable to swallow you will need to have them put on a respirator and have a feeding tube placed,  for the day they can no longer breath or eat on their own.  But still they will ultimately die from an infection.

So you take your baby home and watch them get stronger and brighter and more alert.  You feed them every 2 hours, change their diapers, and try to find ways to stimulate their ever developing little minds.  You modify your home to accommodate their needs, find places for them to lie to keep them comfy and safe, because they lose the ability to sit in a bouncy chair or a car seat.  You begin to realize that you will be homebound, either you or your partner will have to be home with your baby at a all times unless you trust someone enough to stay with them while you are away, and that person is comfortable enough with the idea that your baby could die on their watch.  Now is a good time to bring up the "allow natural death" paperwork. . If that is the route that you choose to go - because if you don't have it signed and the squad is called the must do everything possible to keep your child alive. . If that means intubate. . your child is now on a respirator and you will have to choose, at some point down the road, when to pull the plug.   All the while you are trying to keep your composure and be "happy mommy" when your back is breaking from holding your baby who as you would a 14lb newborn.  All the stresses of a new baby only multiplied in every way to the 10th degree and all the while knowing that they are going to die. . Today. . Tomorrow...  next month. . Next year. . Sometime in the very near future. . They will die.  You will need to make funeral arrangemetns for your baby well before you've even thought about yours and while they are sitting next to you, well aware of your emotional state.  The hardest thing about the whole ugly mess is trying to give you baby the best NORMAL that you can. . Trying to stay in the moment and not look to the future.  Loving them every minute that they are in your presence and not be burdened by the inevitable.  Being mindful that every day with your baby here. . No matter how hard. . Is going to be better than your best day when they are dead.  Remembering that while sucking the saliva that they are choking on with a vacuumed pump is the hardest thing.  

And then you remember, my baby’s brain and senses are fine, they will be aware of EVERYTHING that they go though physically and mentally.  They will feel and know it all.  And because they are just a baby, how will they communicate that they are uncomfortable or unhappy or tired or hungry or ready to die and the list of thoughts goes on and on and on and on though every sleepless night and dazed day from the day the doctor confirms that their is something wrong with your bundle of joy until the day your baby dies in your arms, and even after. . You still question EVERYTHING.  . And wonder and hope for their next life or that their spirit will manifest it's self in your presence. .you look to every religions ever after until you find the one that you like best, but even that is not comforting because no matter what your conclusion the hard cold reality is that your baby is dead.  And you will never hold them, or here them or see them again.  And all of the expectations for your future that you unconsciously made have been stolen from you and had your doctor had the knowledge to run a test prior to being pregnant or giving birth the whole tragedy could have been avoided.  Hind sight is 20/20 and you are where you are and all you can do now is try to warn humanity so that no more babies have to suffer due to ignorance (by ignorance - I mean lack of knowledge)  ..  BUT HOW DO YOU MAKE THEM LISTEN????