August SMA Awareness Month

SMA Awareness 

One warm Saturday at dusk everyone supporting SMA lit a candle for those who lost the fight with SMA and for those who are still fighting.  It just happened to be the same day my sister got married!  She was gracious enough to be in our picture this year for the candle lighting.  

For those of you that have been living under a rock and not following my blog SMA means Spinal Muscular Atrophy, which is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common "rare disorder": approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.

SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body - i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright and sociable. Patients are generally grouped into one of four categories, based on certain key motor function milestones.  

Some facts about SMA: 
      Did you know one in every 6,000 babies is born with Spinal Muscular Atrophy?
      Did you know that Spinal Muscular Atrophy (SMA) is the #1 genetic killer of children under the age of two? 
      SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity or gender.

Sadly, there is no treatment, and there is no cure. However, SMA was selected by NIH (National Institutes of Health) as the disease closest to treatment out of more than 600 neurological disorders. I'd encourage you all to donate to help find a treatment to SMA if you are able. 

SMARD

SMA with Respiratory Distress

SMARD is a life-threatening motor neuron disorder.  Symptoms of SMARD are commonly seen within the first six months of life. Because SMARD undermines voluntary muscle function, infants who inherited a defective gene from both parents may be unable to lift their heads or may have other mobility limitations. Their inability to breathe or cough makes them susceptible to pneumonia and other respiratory infections. Children with the disorder stop breathing due to a paralyzed diaphragm and often die in their sleep. As a result, many children with SMARD never see their first birthdays.

With SMA- roughly 1 in every 10,000 children are born with this disease.
With SMARD- roughly 1 in every 1,000,000 (if that) are born with this disease.

1 in 40 people are carriers of the SMA gene.
1 in 50,000 are carriers of the SMARD gene.

If you want to read more about SMA or SMARD you can click on the tabs at the top on this blog and they will share more info.

It has been 18 months and we still are not formally diagnosed.  Everything has come back negative.  SMA, SMA x-linked, SMARD he only has one mutation and your suppose to have two.  We have done deletion tests and we can't find anything wrong with the other gene.  Our DNA is rather long and I guess Declan's DNA just likes to hide things so it as been difficult.  So here we are dealing with a day by day basis.  Not fully knowing, but fighting through anyways.  Today we have him, today he is smiling and laughing.  

We recently received a demo wheelchair for Declan to learn on.  It's been less than a week and we got him to go straight.  Now we just have to work on other directions.  We are super excited to start this new adventure with Declan and we love to see his face light up.

Above he has only had the wheelchair for about 4 days, and was getting mad at us for turning him around and touching "his" chair. 

I also wanted to tell you that believe it or not this cute little boy still gets into trouble.  Just because he can't walk or do most things physically doesn't mean he gets off the hook.    He is coming up on his terrible two's and him being different doesn't stop what naturally comes with growing up.  I wanted to tell you the first time I yelled at him.  As most of you know I am always carrying Declan up on my shoulder.  It just so happens that Dec has a thing for biting whatever he can get into his mouth.  This day it was my neck he bit, now mind you it wasn't a little nibble it was a full blown snap the jaws of life bite.  In another words it hurt like the dickens.  So I set Declan away from me (who was smiling at the time) and yelled at him to stop biting me and that it hurt.  You would have thought I just ended this kids world.  He gave me the saddest look with the puffed out lip put his head down and started to cry.  It was so cute I couldn't stop laughing, but each time he looked at me I gave him a stern look and he would again put his head down and continue to cry.    

It's not that I want to yell at my child, but even he has to learn right and wrong.  Just because he does things differently doesn't mean he still doesn't push mom's buttons.  Yes even the handicapped get put in time out.    

I do have to say this kid is incredible, he goes through so much.  He works extremely hard at everything he does.  Declan is truly a blessing to us.  He has shown us so much, has changed us forever.  I can't imagine life any other way.  I've finally found something I'm good at.  I will take the exhaustion, the constant worrying, the unknown future for each smile and laugh I get from this baby boy each day.    We don't know how long we get to keep Declan in our lives, but it's hard to not look to the future and live life one day at a time.  In the meantime we take lots of pictures (to much annoyance of my facebook friends), and videos.  We hold him tight and give him lots of hugs and kisses.  I would recommend the hugs and kisses to any of your children it is good for the soul, for yours and your child's   Most importantly tell them you love them every day and night.  If we have learned one thing from this experience it is life is hard and sometimes short so don't regret not saying something that should come easily out of a parents mouth.    

Continue to check back from time to time for our updates!