Ava McLin was born Summer 2005, to her proud parents, Randy and Anja McLin. Ava is a blessing to our family and we waited for her for many years; a smiling, intelligent baby who has warmed the hearts of many who have met her.
In June of 2006, Ava was diagnosed with Spinal Muscular Atrophy, Type II, an inherited genetic disease which causes nerves in the child’s spine to malfunction. These nerves are the ones which send signals to the child’s muscles, and when the nerves are not working properly and signals are not sent, muscles deteriorate and die.
Since Ava’s diagnosis, we have been working hard to try to alleviate and arrest Ava’s muscle deterioration, in hopes that a cure will be found in time. She’s currently being treated using Valproic Acid, an anti-epilepsy drug shown to have increased SMN protein production, which is now being tested worldwide.
We thank everyone for their thoughts and prayers and ask that you keep praying for little Ava. If you’re interested in learning more about SMA and the efforts to cure it, you can follow the links below.
Thanks and God bless to all,
Randy and Anja McLin
Features of an SMA Type 2 child?
A child with Type 2 SMA often reaches six to twelve months of age, sometimes later, and learns to sit unsupported, before symptoms are noticed. Deterioration of the muscles in the legs and trunk develops which makes it impossible for the child to crawl or walk. Weakness in the muscles of the arms occurs as well although this is not as severe as in the legs. The muscles used in chewing and swallowing are not affected early on. The muscles of the chest wall are affected, causing poor breathing function and children are danger of developing pneumonia after colds.
Physical growth continues at a normal pace and, most importantly, mental functions are not affected. The children are bright and alert and it is important that they receive all the available opportunities to develop their intellectual capacities and – if not too sick integration into a normal school environment.
What does the future hold?
Children with SMA Type 2 usually sit unsupported. Weakness of the legs and trunk holds the child back from standing and walking alone. Weakness and disability will increase over many years. Severe illness with prolonged periods of relative immobility, putting on excessive weight or growth spurts may contribute to deterioration in function.
Due to weakness of the muscles supporting the bones of the spinal column, scoliosis (curvature of the spine) develops in in Type 2 children. Therefore breathing function is compromised as well. An operation can be done to straighten the spine and prevent further deterioration.
Recurrent chest infections may occur, because of decreased respiratory function and difficulty in coughing. Parents will have been shown how to perform postural drainage of the chest. They should start this as the first sign of any chest problem. Antibiotics and inhalation therapy may also be needed. Sometimes hospitalisation is required to best manage and care for the child.
The long term outlook depends mainly on the severity of weakness of the muscles of the chest wall and on the development of scoliosis. Lifespan varies and mildly affected children may live into their teens or even early adult years. The more affected children may die later in childhood, due to pneumonia and weak chest muscles.
More about SMA
Spinal Muscular Atrophy (SMA) is a common human genetic disease that affects the anterior horn cells of the spinal cord. It is characterized by the progressive degeneration of the motor neurons with consequent paralysis of the trunk and limbs. SMA affects the body’s voluntary muscles. However, mental ability, sight, and facial muscles, with the exception of the tongue, are not affected. The disease is not well known since 50% of diagnosed babies die before the age of 2. Approximately one in 6,000 children is affected, and approximately one in 40 person carries the gene that causes SMA.
SMA type I, also known as Werdnig-Hoffmann Disease, is the most severe form of SMA and defined as children who are not able to sit independently. Children with SMA type I usually present to the doctors before six months of age because of their severe low muscle tone, breathing difficulties, lack of reflexes, and spontaneous tongue movements (referred to as tongue fasciculations). Due to respiratory problems, children with SMA type I often have a significantly shortened life span.
SMA type II is an intermediate form of SMA and is defined as children who can sit unassisted but cannot walk or stand. Children with this form of SMA usually present to the doctors between 6 and 18 months of age because of low muscle tone and delayed gross motor skills. Individuals with SMA type II often have tongue movements and minor hand tremors. SMA type II can also cause varying degrees of breathing difficulties. Many cases of SMA type II children experience a shortened lifespan.
SMA type III, also known as Kugelberg-Welander Disease, is the least severe form of SMA and is defined as individuals who are able to stand and walk unassisted. Usually individuals with this form of SMA have limited, if any, breathing difficulties, and may show little or no decline. This form of SMA often resembles muscular dystrophy but can be identified by specialized testing.
Presently, there is no cure for SMA.
Treatment of SMA is symptomatic and supportive and may include treating pneumonia, scoliosis, and respiratory infections, if present. Physical therapy, orthotic supports, and rehabilitation is needed. Current research efforts investigate a variety of potential drug treatments. In addition, Aurora Biosciences/FMSA is using a high throughput drug screen to identify promising drug compounds that may help treat SMA.
Hack
1August 8th, 2006 at 5:13 pm
Dear Randy and Anja,
I was so glad my daughter, Denise, sent me this site so I could add you, Ava, Kevin and the grandparents to my daily prayers. Know that you are all in my heart and prayers each and every day.
Love
Joyce Chaney
2September 6th, 2006 at 4:19 pm
I am praying for you and your family.
God bless all of you. Rosaland Gorman and family.
3September 19th, 2006 at 4:22 pm
Hi Ava!
I’m having a terrible time doing this right!!! Hope you get this comment!! Roy and I are Friends with your Grandparents
(A.J. and Pat) and have “known” you since your Birth…when I went by their Insurance Office and saw your Pictures taped all over the doors!!! I also have one your Grandpa A.J. copied for me to bring home and it’s taped on the wall by my Computer!
We are Praying for you and have all of our Friends and Family throughout the USA Praying too….so…you just keep on being the BEAUTIFUL, HAPPY LITTLE LADY we hear so very much about each time we see or talk to A.J.or Pat!!
ALL OF OUR LOVE…..WE CARE!!!….FOR A SPECIAL ANGEL!!!
Roy and Linda Bonadona, Sr.
Denham Springs,Louisiana
4December 2nd, 2006 at 3:59 pm
ava is a beautiful little girl. my prayers are with you and ana. if i could get around more i would come and help anyway i could, so i pray for our little angel. love nanan dot .
5December 2nd, 2006 at 8:41 pm
Thanks Nanan. It was a happy surprise to see you write in! And thanks for praying; we believe every prayer to God helps. Maybe one day He’ll hear the one that sends His love down to touch Ava.
Tell the family hi for us. Take care,
Randy
6May 7th, 2008 at 11:54 am
Dear parents of Ava, I came upon your website while looking up something about Albuterol. I am on a nebulizer 4 times a day and have Sarcoidosis and Scoliosis! I have been able to put together some answers on my own health becauses of what I read about Ava. She is a beautiful little girl and Iblessing to you as all children are to their parents! I will pray for her, she is so young, I once taught 2 yrs. old and have 2 children(16&22) of my own!May God continue to bless you and remember we are all in His hands>
7November 19th, 2008 at 6:45 am
Dear parents of Ava,
You mention that ‘albuterol treatment (oral form) is standard for many patients with SMA’. Could you tell me more about this. I am wondering whether albuterol sirop could be beneficial for my 2 year old daughter, diagnosed with SMA2. Albuterol treatment is not standard here in the Netherlands.
Also I am very interested in you experiences with Hydroxyurea thus far and whether that is something to inquire into for my daughter Raïka.
Thank you, Mattijn
8December 29th, 2008 at 7:48 pm
Hi Randy and Anya!
Just read your post! All I can say is that Jesus knew who to give Ava to!! Also, who to give mom and dad to!!!
Its just a “journey” and you three are on a beautiful journey of Holiness together as a family!! Your family is more blessed than many other families out there!! We all have so much to learn from your beautiful family!
blessings always
Lily
9May 18th, 2009 at 8:42 pm
Dear Ava and Parents,
I sincerely hope you all are doing well. I came upon your website while looking up the shrine at Emmitsburg. My father suffers from a very debilitating form of myositis (neuromuscular disorder) for which there is currently not even an experimental treatment. He,too, suffers from acute muscle deterioration, so your story about Ava really touched my heart and hit home. Please know that I’ll say a prayer for your daughter and your family. Please do the same for my father. His name is Jim. –Blessings to you, Rhonda
10August 13th, 2009 at 7:30 pm
I came across Ava’s site tonight and spent a lot of time checking it out. Ava, I wish I could reach through the computer and give you a huge hug! You are such a little sweetheart. Thank you for letting your parents share your story here.
Tim
11September 5th, 2009 at 6:31 pm
Dear Ava & Parents
I just had to say hi, My daughter Rae was diagnosed with SMA type 2 in june Rae turned 2 in July. Seeing everything Ava is doing & the equipment you use gives me so much hope for my little Rae, i can’t tell you how much it’s raised my spirits.
Such a beautiful little girl with what looks like a whole lot of determination, such an insperation.
Best wishes to you all
Tanya White
london England