You are browsing the archive for SMA.

Mom Runs to Cure SMA in NYC Half Marathon 2015

March 11, 2015 in News - Updates, TSN outreach Projects

Cure SMA NYC Half 2015

Kian and Neda

I am very proud of Kian’s mom. She’s a busy lady and twirls many plates but also makes time to get fit and give back. I have come to appreciate her determination and wit to get things done for Kian. As you can imagine having a special needs child with all the hours of arranging and setting-up, following-up and finding competent nurses for his 24 hr care over the past 8 years could have depleted her totally. But, through it all she has managed to survive with an attitude of “keeping on”. Kian’s mom is running in the NYC Half Marathon this Sunday. It is sponsored by United Airlines Run for Life. She is running to Cure SMA. Below is a short video I created as a tribute to her and to get the word out about her fundraising efforts. After viewing the video it would be so amazing if you would contribute as a way of to tell Kian’s mom you appreciate her efforts and her cause. And Below the video are some words of encouragement and challenge to all of us from my husband Mike.

Link to video for mobile users.

“In this great dance we call life, each of us experience various blessings and challenges. The normal ups and downs and stresses and strains in the common course of life are sometimes enough to cause the best of us to become overwhelmed.  But then there are those who are dealt a tough blow in life. It is not by their choosing and not according to anything they imagined in their wildest dreams. They are presented with the challenge of a special needs child. They must care for that child who could not make it through another day without the protective care of a loving mother. They are those who often must hide their deepest pain and hopefully get to it one day, but for now, theirs is a life of sacrifice, hopes and continual self encouragement to carry on for just another day. So when we think of those who are the poor of this world, that little boy or girl who did not have the opportunity to run, jump and play as other kids, our hearts are moved with compassion. If we have been so blessed as to enjoy those simple everyday ordinary things of life perhaps we will allow our compassion to turn into giving, in order to help alleviate the burdens of that lovely child. But in addition when we give in the hopes of eradicating that disease we not only give to bring a better life to those who are sick and God knows that would be reward enough itself, but we give in the hopes of alleviating the suffering and pain of the child and the family. Truly those who donate their energy and often the best years of their lives are the unsung heroes. They are the ones who also need help and healing. When we give, we give to all connected to this child with cords of love. When we give; we honor, support and help those who have embraced their assignment with guts and boldness, freely dispensing their energy in order to give the best life possible to this lovely child, even though it cost them their own very lives. Support Cure SMA! More Info!

You can read more about Kian: What is SMA?

Kian’s Tribute to mom. Kian’s Tribute to dad

Link to Cure SMA Race Team

Please leave a comment below and give a donation! The race is March 15th! Thanks in advance!



Spinal Muscular Atrophy Type 1

June 15, 2011 in Chronic Illness - Disabilities

You’ve met my little friend Kian in a prior post, so I wanted to share his story. I started working with Kian in April of 2009. Kian lives with the disease SMA type 1 which is called Spinal Muscular Atrophy.

Families that go through such difficult times are incredible people as I have found in Kian’s.

I will start this journey by telling you about the SMA genetic challenge first. In future post I would like to share some of Kian’s abilities and the adventures of his daily life.

The info below is a short summary.

SMA is a genetic flaw sometimes called a mutation. SMA is more common than you may realize. I don’t wish to frighten you but to educate and make you aware of the signs and symptoms and pre-pregnancy testing that is available to couples.

*Spinal muscular atrophy (SMA), is the number one genetic killer of children under the age of two, is often fatal and destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing and breathing.

*The nerve cells that control muscles are located in the spinal cord so this is how it gets the name Spinal Muscular Atrophy. The muscles stop recognizing signals from the spinal cord nerves and atrophy begins, which is the shrinking of muscles because they are inactive.

SMA is one of the most prevalent genetic disorders.

  • One in every 6,000 babies is born with SMA.
  • SMA can strike anyone of any age, race or gender.
  • One in every 40 people carries the gene that causes SMA. The child of two carriers has a one in four chance of developing SMA.
  • 7.5 million Americans are carriers.

There are 4 types of Spinal Muscular Atrophy

  • Type 1, the most severe effects infants between birth and six months.
  • Type 2, effects infants between 7 and18 months.
  • Type 3, the least deadly effects children as early as 18 months and sometimes not until adolescence.
  • Type 4, is an adult form where symptoms usually appear after 35 yr of age.

This post will focus on SMA1 which is the most severe. SMA1 used to take the life of a child by age 2, but with all the technology available today many children are surviving much longer even into their teens.

SMA1 is also called Werdnig-Hoffmann Disease. Children with SMA1 cannot sit without support.

2 areas that create some of the biggest challenges for SMA1 children are:

  • Respiratory muscle weakness
  • Swallowing muscle weakness

Respiratory problems cause a lack of oxygen the body needs, which can lead to chest infections, possible heart damage, respiratory failure and even death.

Belly breathing, which is a way to compensate for difficulty in breathing, is a sign you should tell your pediatrician.

Children with respiratory muscle weakness will eventually need help with secretions, so a suction machine is used. A small tube or catheter is placed down the throat as the machine sucks the secretions out. The suction machine is portable so will go with the child wherever he goes.

A cough machine helps bring up deep secretions and helps keep the lungs clear. A small respiratory mask is placed on the child for short intervals while the machine blows air in to expand the lungs and sucks out to bring up secretion. You and I rid ourselves of these secretions by coughing, hence the name Cough Assist. A portable one is in the process of creation.

Respiratory ventilation devices have helped some children live into their teens. The vent has the ability to be pre-set for the child’s specific breathing needs and is minimally invasive. The child wears a mask or just a nose/nasal piece to help with the breathing assistance he needs. The machines are portable so life is much easier than the old days of “the iron lung”, which was huge and immobile.

Swallowing muscle weakness is when a child cannot suck or swallow, so suctioning is required as described above and eventually they will receive their feeding via a gastronomy tube or G-tube. A G-tube feeds the child through a created hole to connect directly to the stomach. The child will have a little button (mickey button) on their stomach, which is a place to connect the bag of formula directly in to the stomach.

Infants with early signs of breathing, sucking and swallowing problems should be evaluated by their pediatrician.

Mental and emotional development and sensation are normal in SMA children.

Pre-pregnancy tests are available to see if couples are carriers, speak with your doctor before you become pregnant.

The information in this post was in part from FightSMA and Families of SMA, please check them out for more details for the care and treatment of children with SMA.

Updated 9/25/17 I started working with Kian in April of 2009. This is an introduction to SMA and I hope to tell you more of the adventures of Kian in his everyday world. Kian has a teacher and has some physical abilities. He enjoys moving his legs with the help of his slings. Kian has physical therapy, OT sessions and nurses who care for him around the clock. Kian has since receive a tracheostomy and his care is much easier for his nurses and family. He enjoys music, vocalizing, movies, crafts and attention from his little brothers, family and friends.

You may like:  SMA child’s Tribute to his mom    SMA child’s Tribute to his Dad    Card making



SMA Child’s Tribute to His Mom

May 5, 2010 in Chronic Illness - Disabilities, God - Faith - Hope - Love, Nurturing the Child, Uncategorized

SMA Child’s Tribute to His Mom

kian abc pic 098

“If I Could Say It.”

If I could say it, I would say I love you Mom.  You know how to handle me and care for me the very best of anyone.  You are ever learning about kids like me and teach my nurses how to help me.

You always try different things to care for me because I can’t talk and tell you what I want or need. I don’t talk but I vocalize with my sighs, and you listen. You read the expression of my eyes, I like when you look in my eyes.

Mom you always get me what I need. I need a wheelchair, so I can go for walks and enjoy the sunshine outside during the warmer months. I’m too big now for my stroller, you are making sure the right people are working on it. When we needed a big tub you rallied all the workers and got things moving. You always speak for me.

Even though you work hard all day, thanks for sleeping close by on the couch when I’m having a rough night so you can be ready if the nurses and I need you. When I’m upset or something is hurting in my body, you give the best massages and comfort. I love your kisses too.

Thanks for hoping and keeping that sparkle in your eye. Mom you brighten my day. Thanks for loving me the way you do.

Happy Mother’s Day,



More information on Spinal Muscular Atrophy to come.  Click contact if you would like to be placed on our e-mail list when this post is updated.

For Nurturing Children, Ms. Dawn, The Singing Nurse