The End of SMA Awareness Month

Today is August 31st which marks the end of SMA Awareness month, but for us and many families like ours, SMA awareness doesn't just take place during one month in the year. Unfortunately, for us, SMA is a part of our daily lives and always will be. I hope that all of our readers learned a little more about Spinal Muscular Atrophy this month and how you can help spread awareness about the disease that robs children of the simple joys in life-the ability to move, breathe, and speak.

If you would like to donate to any of our favorite SMA charities to help fund a treatment and/or cure, please check out these wonderful sites:

http://www.gwendolynstrong.com/

http://www.fsma.org/

http://www.sophiascure.org/

A Little Bit About Nicholas...

Our sweet three-year-old has been doing so well in the past few months and we are so happy! He saw his pulmonologist last Thursday and we were surprised and happy to learn that he know weighs 29 pounds which finally puts him on the weight chart in the tenth percentile. It is such a relief to know that his amino acid diet is working so well for his little body. We are also working with his pulmonologist to try to get Nicholas some portable oxygen for those emergency situations where oxygen is necessary.

Nicholas's new school district was so generous in purchasing a universal arm for his iPad earlier this summer and he loves watching PBS kids and Netflix shows on it.

Also a few weeks ago Nicholas received a beautiful dinosaur blanket from B4SMA, which is a blanket charity started by two women, MJ Purk (who is living with SMA and who is featured on an earlier post) and Brenda Hanson (who is MJ's caregiver and good friend). He loves his blanket and the cute stuffed frog and other toys that came in the package. Thank you MJ & Brenda for thinking of our little boy!

Nicholas's school year starts tomorrow! I cannot believe our son is old enough to attend preschool already. He will be participating in his class for circle time and free time via web cam and we will be doing all of the classroom learning activities together at home. I am gearing up for a school year of letters, painting, numbers, literature, and fun!

Ella's First Boating Adventure

Today was my first trip on my family's boat. I had a great time on the water and was happy to play in the sunshine, but I missed my brother who was home with our Gramme.

Mom, seriously, do I have to wear this thing the whole time? It's kind of uncomfortable.I sure do love snuggles with my Aunt Tina Oh, boy, I can't wait to watch Daddy wakeboard!He didn't disappoint me...he did all kinds of crazy tricks on that board...My Uncle Eric and Aunt Jami grew up on the water and they both love it as much as I do.After Daddy wakeboarded, I got to watch my Uncle Eric...Then Uncle Eric let me try on his wakeboard boot, but I think it was too big.Later we took the boat to the shore and I loved swimming in the water and playing with the sand.I may look like I am all by myself, but don't worry...I had a bunch of guys looking out for me.Then I got into the boat with my Mommy and changed out of my swimsuit and played with my Sofie.What a fun day!

Sean Wheeler

Sean's mom, Jessica, and I recently connected on facebook. The Wheelers don't live too far away from us, so we hope that we will be able to meet them someday soon. Here is what Jessica wrote about her handsome son...

Sean was born April 17, 1998. He was the healthy baby that I had prayed every night for. At three days old he rolled over in his incubator in the nursery and the nurses told us that we would have to watch him closely because he was a “strong one.” Things changed so slowly, that for months we didn’t notice that anything was changing. At about nine months I began to worry. Sean didn’t crawl and while he could stay sitting up, he couldn’t get into that position by himself. We took him to the doctor and she said that he had low muscle tone, but he really wasn’t that far behind. She told us that they worry more if babies are losing abilities. I went home and watched a video of Sean that had been taken over about six months time. You could see that in the earlier videos he was moving his legs, but in the later videos he was not.

Our lives changed forever the night before Sean’s first birthday. Sean had been to the doctor for a check up and I told her about how his hands shook when he was really upset. When she witnessed this for herself and he still wouldn’t put weight on his legs she said it was time to start running tests. That night I couldn’t get muscular dystrophy out of my mind. I looked it up online and read about all the different types. I was feeling really good, none of them sounded like Sean. Then I got to the last on the list, Spinal Muscular Atrophy. They happened to describe type 2’s in detail. As I read my heart sank, and when I read about hand tremors I just knew. I even thought to myself that I would remember that moment for my whole life.

We had a big party for his first birthday the next day, but there was a dark cloud hanging over us all. The next Tuesday I called the doctor to ask her about SMA and she said that Sean couldn’t have it because he wasn’t weak enough. So we ran test after test. They all came back negative. At 14 and half months old I asked about SMA again. The doctor said that he couldn’t have it because he had reflexes, but when she went to show me they were gone. Between his one-year check and 14 months he had lost them. She said, “OK, we’ll run the test.” I remember sitting in her office two weeks later when she came in and said those dreaded words, “I just got off the phone with the lab, the test was positive.”

We are very fortunate to have an incredible pediatrician who does everything she can for Sean. She never told us to take him home and love him; she does everything she can to make sure that Sean’s life is full and as healthy as can be. Sean is now 13. I was filling out a medical form one day and one of the questions was “is he healthy?” My answer: “definitely healthy."

To learn more about Sean, please visit his website: www.caringbridge.org/visit/seanw

MJ Queen

Here is a 23 year-old woman who is living with Spinal Muscular Atrophy. She is a true inspiration to me and many people in the SMA community. She has a blanket charity and recently sent Nicholas a beautiful dinosaur blanket that he loves!I’m Margaret but most people call me MJ. I’m 23 years old and I have Spinal Muscular Atrophy or SMA type 1+. My type of SMA is kind of subjective but basically it means that I don’t strength wise, fit nicely into a set criterion for type 1 or type 2. I’m stronger than most type 1s and have maintained the ability to sit up with support and am able to swallow solid foods. I was diagnosed with SMA when I was 6 months old but my paternal grandparents knew something was wrong with me around 3 months of age. My younger sister, Emma, also had SMA but lost her battle with SMA in March of 1992. SMA has been the cause of a great many of my triumphs and failures. I have been in the hospital for many months in the last two years but I still enjoy life. In the past year, I have had several surgeries and several complications. I have learned a great deal about myself and the medical profession through these experiences and it has made me a much stronger person.

While SMA is a major part of who I am, it is not my entire world. For the most part, I am your average 23 year old. I recently finished my undergraduate degree in Rehabilitation Services at Wright State University in Dayton, Ohio. I have a lot friends whom I love spending time with as often as possible. I have a very large family and we are, for the most part, very close. I enjoy volunteering for various organizations in the SMA community. I am the president of my own organization, B4SMA – Blankets for SMA kids, that makes and sends blankets to children (up to age 18) from around the world with SMA. I also design websites for Our SMA Angels – an organization dedicated to providing websites to families of children and angels with SMA. I enjoy designing T-shirts and making videos in my free time. I love to travel and have been to several states. One of my favorite yearly vacations is camping with friends on the ocean in Connecticut.

It has been an incredible journey over the last 23 years. I know that SMA has had a huge impact on my life as whole. I’m thankful for the people that I have met because of SMA. While I wish that I didn’t have to know the world of SMA and the people in it, I’m grateful for all of the experiences that I have had because of it. I love life and enjoy every minute!Visit the following websites to learn more about me and my life:

www.our-sma-angels.com/Margaret

www.our-sma-angels.com/b4sma

www.our-sma-angels.com/emmabear

www.zazzle.com/b4sma_kids

http://tinyurl.com/b4sma-productions

One Year Later

What a difference a year makes! In August of last year Nicholas spent 15 days at Doernbecher Children's Hospital. He was admitted on August 11th and stayed until August 25th. He had been losing weight and was only 17 pounds when he went in because he refused to eat much of anything by mouth anymore. The night before his hospital stay, I was bawling as I gave him a bath because he had become so small and frail and he didn't have an appointment to see a feeding clinic specialist until the end of September. I felt absolutely helpless which is the worst feeling for a mother. The next morning, I took him to his pediatrician who promised us that before we left his clinic, he would get Nicholas into a hospital to get him the attention that he desperately needed. During that fifteen day stay at Doernbecher he had his g-tube surgery and was finally given a bi-pap for sleeping.

Just looking at his skinny little self in these photos makes my heart break. He has such a strong, fighting spirit in him and you can see even though he was emaciated and not doing well respiratory wise, he still managed to smile and keep his spirits up.Now one year later, Nicholas has gained approximately twelve pounds and is much healthier because of his g-tube and sufficient nutrition. He now has fat on his body where he used to be just skin and bones and it is so nice to see his--dare I say--"chubby" thighs and biceps. He also gets good quality sleep because of the support of his bi-pap when he is sleeping which helps him to have more energy during the day.

I cannot even begin to explain how life changing that hospital stay was for Nicholas and his health. The doctors and nurses taught us so much about his neuromuscular disease and how to use his new ventilator and feeding tube. I am so grateful that he has such an amazing pediatrician who is willing to be an advocate for Nicholas and his many health care needs. Most of all, I am so grateful that we still have our sweet boy here with us to give us so much joy and love each and every day. Nicholas is a blessing straight from Heaven and being his mother is one of the best gifts I have ever been given.

Keep on fighting, Nicholas! WE LOVE YOU, BUDDY!

Alexander Davis

Alexander is a handsome boy who doesn't let SMA hold him back! His family went to the annual SMA conference in California last year and they also had a wheelchair ramp added to the entryway of their home to make getting out and about in a power chair much easier. We love to read the Davis's blog and know that Alexander and Nicholas would be great friends if we lived closer to one another and could get together for play dates. Here is Alexander's story as told by his mom, Anastasia:

Alexander William Davis was born on March 31, 2008. He was sent home healthy and happy! Alexander was doing great until about 9 months old, when he started falling behind developmentally. After seeing a Neurologist and running many tests, he was diagnosed with SMA Type 2 on June 11, 2009. Alexander began using a power chair at 16 months, and received his own on December 30, 2009. He absolutely LOVES driving his wheelchair, and has spent the whole summer perfecting his driving. He loves the little bit of independence it gives him. Since Alexander’s diagnosis, he has continued Occupational, Physical, and Speech Therapy. He had a g-tube placed in February 2011, and has recently started using the Vest therapy system, twice a day, to help keep his lungs as strong as possible. He spends a lot of time at doctor appointments and therapy appointments, but we make sure he has every opportunity possible to be a fun and happy 3 year old.

Alexander has a ton of determination, and amazes us every day with his inner strength. He is probably one of the happiest and funniest 3 year old boys you could ever meet. He loves to make people laugh and smile, and when he is around there is never a dull moment. Alexander loves basketball, trains, cars, blocks, and motorcycles! One of his favorite toys is his iPad. He recently started going to Preschool and loves playing with all the other kiddos, and he will remain in school as long as his health is not affected. We are so proud of our lil man, and he shows us every day how to fight and be strong. We love you Alexander, and will fight every day for you.

Happy Anniversary Mom & Dad

Happy 34th wedding anniversary to my wonderful parents!

You have both taught us so much about love, kindness, selflessness, and compassion. Your marriage is a shining example of what I would like ours to look like in 34 years.

We all love you so very much and wish you a very happy anniversary!

Piggy Tails

I can hardly believe that our eleven month-old has hair that is just long enough for pig tails, but she does! I think her stylish new 'do makes her look like more of a toddler and less of a baby. Our sweet girl is growing up so fast!

SMA Genetics

This is a great illustration of how Spinal Muscular Atrophy is passed on to children and how many people carry the SMA gene. Genes are a mysterious thing as we have two children: Nicholas, who has SMA and is a carrier of the gene & Ella, who is unaffected and not a carrier. We have one child on each end of the spectrum. Both children were conceived naturally so both had an equal chance of not being born with SMA (75%). Unfortunately, Nicholas received a carrier gene from both me and Jeff which caused him to have Spinal Muscular Atrophy. Ella did not receive a carrier gene from either of us which means that she does not have SMA and is not a carrier, thus she will never pass this disease on to her own children. Jeff and I were unaware that we are both carriers of the SMA gene as we do not have family history of SMA. I opted not to take the carrier screening test while I was pregnant with Nicholas as it was an extra test, not one that is routinely given during pregnancy. I now believe that the carrier screening test is very important because if we would have known that Nicholas had SMA before he was diagnosed at ten months it would have given us more time to prepare and inform ourselves about the disease, and it would have allowed us to seek therapy and get necessary life-saving medical equipment much sooner. If you are pregnant or plan on becoming pregnant, consider asking your doctor for the SMA screening test. It could help prolong your (SMA affected) child's life and save you a lot of unexpected grief and heartache.

One couple, Stephanie & Brandon Humes, chose to take the SMA carrier screening test before trying to conceive children as suggested by their doctor. They found out that they are both carriers of SMA and have decided to use medical technology (in-vitro fertilization with genetic screening) to help them conceive a SMA-free child. They also started a charity for SMA children called Lullaby Blankies. To read more about the Humes' story, click here.

Ella is Eleven Months

Here are a few photos of Ella from ten months to eleven months...

Today our little munchkin is eleven months-old, which means in only a month we will celebrate her first birthday! I can hardly believe how quickly time goes by (especially as I get older) and how much our baby has changed in these eleven months.

Ella is our foodie and loves to try new things. She also is like a puppy, in that, anyone who is eating around her has to endure begging noises until she gets some of what you are eating. She is starting to turn her nose up at jars of baby food and prefers a more grown-up assortment of foods. Right now she likes cheese, graham crackers, green beans, rice, noodles, bananas, pears, and black beans. She also had her first taste of ice-cream yesterday and loved it.

She is not yet walking, but can stand alone and cruises along the sofa and ottoman. She crawls super fast and can get from one room to the other pretty quickly. We have done our best to baby-proof, but she is always finding new things to get into. She loves her independence and is not happy when she is limited to being in her Exersaucer because she can't go anywhere. She prefers her walker so she can move around the house and see what mommy, daddy, and Nicholas are doing. She also likes to clap her hands and waves good-bye when prompted.

She absolutely adores Nicholas and he feels the same way about her. She giggles when she is around him and is very curious about all his machines and equipment. She is getting better about trying to be gentle with her brother and I really think she knows how special he is. I love to watch the two of them interact with each other. There is nothing better than watching your children play and laugh together.

Some of her favorite toys right now are her baby doll, teethers, and musical/light-up toys. She loves to push buttons and see what will happen. The TV remote is still a favorite of hers and she gets very excited when she gets her hands on one.

She chews on everything and I am sure it is because she still has a lot of empty gums in her mouth. She only has her two top middle teeth, although it looks as if her bottom teeth may cut through any day now.

She is a wonderful baby who eats well, sleeps well, and doesn't complain too much about anything. We feel so blessed to have her in our lives and wouldn't trade her for the world!

Happy 11 months, Ella Roo! You are so loved by your family!