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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.

WHO IS AFFECTED
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

 

 

Walking Song Video Complete

August 20, 2010 in God - Faith - Hope - Love, News - Updates, The Singing Nurse Music, TSN Therapeutic Projects

Walking Song Video Complete-“I’m Gonna Walk Again” by Jenna and Ms. Dawn

“I wanna walk again, I’m gonna walk again, yes I am, I am,

well the doctor said I never would, but I am, but I am, but I am.”

Jenna and The Singing Nurse, Ms. Dawn, that’s me… have completed our walking song video. We wanted to create this video to encourage others and to educate people about the courage and struggles of those dealing with disabilities and rehabilitation.

PT, OT, ST, supportive parents, brothers, nurses, doctors, friends and family each have played an integral part in Jenna’s progress thus far. Little by little each person has nurtured hope in Jenna.

The dictionary describes progress as a forward or onward movement (as to an objective or to a goal) and in this journey, Jenna would be the first to thank all the people working with her who have encouraged her to keep trying. She especially appreciates her greatest cheerleaders, her parents, for their love and continued support towards her life and progress.

The dictionary describes hope as desire, with expectation of obtainment the end product. All of the encouragement Jenna receives and gives helps to extend and nurture the hope in others. Jenna is looking forward to the future and working to accomplish goals and fulfilling her purpose. Jenna wants to encourage others and asks that you share her videos with your friends who may be going through tough times too.

In Jenna’s videos she passionately reminds her viewers that “you are who you are with or without a wheelchair and that her faith in God sustains her with ‘every step she takes'”.

To read more click on:   About Jenna Jenna’s Story

If you have a question for Jenna, you can go to our contact page or

email us @ TheSingingNurse@gmail.com

 

 

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,

Kian

____________________________________________________________________________________________

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


 

 

 

 


Writing walking song with disabled friend Jenna

March 19, 2009 in Chronic Illness - Disabilities, TSN Therapeutic Projects

Jenna answers questionsJenna is a very sweet 17 year old and a typical teen in every way.  Because of her many illnesses, surgeries and the loss of a younger brother, Jenna has developed a genuine compassion for others. Jenna ended up having scoliosis and while they were correcting the scoliosis, a tumor was dislodged which caused a partial stoke. Jenna is now a partial paraplegic and was told by the doctor that she would never walk again. Jenna has baffled many doctors and medical professionals over her life time which has added to her resolve to walk once more. To encourage this hope we wrote a song sharing her struggles and victories with a pinch of finger wagging in the face of those who might have unknowingly stolen her spark. The lyrics proclaim “I want to walk again, I’m gonna walk again, yes I am I am, well the doctors said I never would, but I am, but I am, but I am”.

**The Writing Process

Jenna has some learning disabilities so we took it slow, I had the chorus idea and showed it to Jenna, she loved it. I asked Jenna to give me some words that would describe her desire to walk, how she feels about being in a wheelchair, what are the difficulties of learning to walk and what has inspired her to keep trying. We took those words and went to the rhyming dictionary and found all the words that would help Jenna tell her story and wrote the lyrics together. I asked Jenna to give me a little melody that was different from the chorus and what we finally came up with was a collaboration of notes, musical ideas, fun times and hopes.

**The Recording Process/Media Project

My son, two young musician friends, guitar player husband and I are waiting for the final mix to be complete. It will be interesting to see how it all falls together. I have been doing some short video clips of Jenna working with her PT, OT, and our recording sessions. I am excited about the finished product, how it will encourage Jenna to keep climbing her mountain and how it might provide inspiration to other young people who have their own set of difficult circumstances.

We have a pipe dream of the Jonas Brothers(Jenna is ga ga over them) singing it at one of their shows and having Jenna and other young people with disabilities part of the production.

Some of the words

When I wear by braces,

I see the look on your faces

When I get up, it’s really tough,

The prize for me, is at the end

So I try and I try and I try again

Stay Tuned: If all works out, it will be available for viewing @ The Singing Nurse YouTube channel.

Anyone have any connections to the Jonas Brothers ?

Jenna’s Story

February 28, 2009 in Chronic Illness - Disabilities, TSN Therapeutic Projects

02/28/2009 (updated in part Jan 2017)

Hope you all have endured the cold winter, I am sooo.. looking forward to the warmer weather. March is one of those iffy months where the temps and conditions outside can be unpredictable. Just to encourage you, the warmer weather is just around the corner.Jenna 12 days of Christmas and walking 014

I have known Jenna for about 14 years (update 18 yrs) and this young lady and her family have endure many set backs. I was Jenna’s nurse when she was 3 years old and she has had health issues all of her life. Jenna was born premature and over time the family discovered Jenna had other issues which have impacked them greatly. I don’t want to let too much out of the bag because I want her tell the story. She is full of faith and I know she will encourage you with her unbelievable zest for life. If you have any comments or would like to ask a question, put Jenna in the subject and send us an email to: TheSingingNurse@gmail.com

(When you listen & watch the “Walking Song Vid” You will find a lot of videos where Jenna shares her story. Jenna went to be with the Lord in 2013, her family and friends will miss her greatly)

Check out Jenna’s videos @ www.YouTube.com/TheSingingNurse

How we wrote the song? Click below

Writing walking song with disabled friend Jenna

Ms. Dawn, The Singing Nurse