Nicholas's Story

Many people have been asking us questions about how Nicholas is doing and where he is in terms of SMA right now, so I thought I would share his story from the very beginning...

Nicholas was born on May 20, 2008, a seemingly healthy, beautiful bouncing baby boy. Jeff and I were thrilled to be parents for the first time. I remember our doctor immediately laying Nicholas on my chest and I took one look at him and starting crying tears of joy. I had waited my whole life for this moment...the moment I became a mother.

Jeff and I brought Nicholas home from the hospital the following morning and marveled in the newness of parenthood. We had many visitors those first few weeks and Nicholas was content to sleep, cuddle, and eat. We felt so lucky that Nicholas had such an easy-going temperament. We had heard many stories about how difficult the first couple of months would be with adjusting to feedings, no sleep, and a crying baby, but we had none of that with Nicholas. I still miss him when he is napping and just cannot wait for him to wake up!

When Nicholas was around 4 months-old I started realizing that he was not meeting the physical milestones of a typical child his age. When placed on his tummy, he would cry and complain until we turned him over to lay on his back. He also wasn't kicking his legs as vigorously as other babies and had difficulty rolling over. Lots of people told us not to worry, that babies meet milestones at their own pace, and Nicholas would do those things when he was ready. I listened to them and desperately wanted to believe them, but in my heart I knew something was just not quite right.

At Nicholas's 6 month well-child check-up, I mentioned to the pediatrician about Nicholas' lack of movement. He referred us to the Early Intervention Program and Nicholas began receiving physical therapy in January 2009 for one hour a day, one day a week with a wonderful woman named Katie. Katie told us that Nicholas had low muscle tone and that he would most likely begin to roll over, crawl, and eventually walk with regular physical therapy. She also commented that his easy-going personality was probably to blame for his contentment with being held and cuddled all the time. Relieved, Jeff and I started doing suggested exercises with Nicholas trying to strengthen his muscles and we began encouraging him daily to move on his own.

After three months of physical therapy and very little progress, Katie suggested that we take Nicholas in to see a pediatric specialist for further medical testing. I remember crying at her words because I knew my greatest fears would be confirmed: I knew in my heart something was wrong with our baby.

On March 30, 2009, I took Nicholas to Emmanuel Children's Hospital to see Dr. Shih. Dr. Shih was the most wonderful doctor I have met to date, engaging both Nicholas and I with his witty humor and gentle nature right away. Dr. Shih gave us two possible diagnoses: Tethered Cord Syndrome or Spinal Muscular Atrophy. We prayed so hard for him to have tethered cord because Dr. Shih explained that tethered cord is correctable with surgery. SMA, however, is not. That same day, Nicholas had blood taken for the SMA test. We also scheduled an MRI for two weeks later to determine if Nicholas had tethered cord.

During the next two weeks I read as much information as I could get my hands on regarding both diseases. After a few days of research it became clear to me that Nicholas could only have one. I sat down with Jeff and explained that while Dr. Shih told us it was more likely that Nicholas has tethered cord, the fact was that all of his symptoms pointed toward SMA. We both cried for quite some time and decided that at that point all we could do was pray for a different outcome.

On April 17, 2009 Dr. Shih returned from a short vacation and called to give us the news: "I am so sorry to tell you this," he said, "but Nicholas's blood test results came back positive. He does have SMA." I cannot recall the rest of that conversation because I broke down crying so hard. I think I asked the doctor what the next steps were following this diagnosis. Dr. Shih gave me the number for a doctor at Shriner's Hospital for Children and assured me that he was an expert in SMA. He offered his condolences and was genuine in his sorrow for our family. Jeff happened to be home that afternoon because he was working swing shift, so walked into the garage and gave him the news. My grief was such that I could not even stand up. Jeff held me and cried with me for what seemed like hours. All I wanted to do was to hold our son in my arms and never let him go. I got him out of his high chair and cradled him until Jeff gently pried him away for fear that my uncontrollable sobs were frightening Nicholas.

To be perfectly honest, the rest of that day is a blur. All I know is that I wanted to be as close to Nicholas as possible, even laying him in our bed to sleep between us that night. The next day I wanted to seek out as much information as possible and I felt a desperate need to get in contact with other families who had children with SMA. I felt comforted knowing that Jeff and I are not alone in this, but sad at the same time that so many other families have to go through the anguish of having their child diagnosed with a terminal illness.

Last Monday we went to Shriner's Hospital and had our first appointment with Dr. Sussman who is an orthopedic doctor. He will watch Nicholas's spine as he grows because most children with SMA will eventually get scoliosis. He will also help Nicholas with any leg/hip braces he may need in the future. Next Monday we have a physical/occupational therapy evaluation there to determine how much therapy Nicholas needs at this point. He will also continue his physical therapy with Katie through the Early Intervention Program until he turns three years-old. On May 18th he will have an appointment with Dr. Russman who is the neurologist at Shriner's and the expert I mentioned before on SMA. Dr. Russman will be able to determine if Nicholas has type I or type II SMA, although when Dr. Sussman examined him he told us he thought Nicholas is type II. We feel very fortunate to be near a hospital that offers such amazing services for our child free of charge.

Now we are trying to focus on the positive. We spend every minute of every day treasuring our time with our sweet boy. We live our lives with as much laughter and happiness as we possibly can, although, there are moments when the severity of Nicholas's disease weighs heavy on our minds. Sometimes as I watch other children run and play I feel very sad knowing that Nicholas will never be able to do the same. He will never get to experience movement that many of us take for granted. However, Nicholas is happy and relatively healthy at this point. He has a hearty appetite and loves mealtime. He can feed himself crackers, yogurt bites, and puffs and has started eating macaroni and cheese, cut-up bananas, and canned green beans.


He loves his bath time and moves his arms and legs a lot in the water. A few times a week we take him up to Gramme and Grandpa's to have baths in the huge jacuzzi tub. The weightlessness of the water allows him more mobility than being on dry land.

Nicholas also really likes to sleep. When it is naptime he goes right to sleep without a fuss because he gets so tired from working so hard to move his little body while he is awake. Even just taking deep breaths can be tiring for him. He takes two 2 to 3 hour naps per day: one in the morning and one in the afternoon. He is usually up for 3 hours between naps. He also sleeps between 10 and 12 hours at night. After his naps he wakes up much stronger. For the first hour or so he has no trouble with head control and can sometimes sit for several minutes unassisted. As it gets closer to nap time it is easy to see that he begins to lack head control and some movement. Then it's off to sleep to re-charge those muscles again.


He loves to talk: he can say "dada," "mama," "baba," and his new word is "hi." He loves to read books with mama and his new favorites are touch and feel books. He has started to have a bit of trouble holding on to his heavier toys, so the lighter and smaller toys seem to be much easier for him to hang on to. To be honest, he really loves to take his binkie out of his mouth, throw it down, reach to pick it back up, and stick it in his mouth again. He laughs and smiles all the time and truly loves his dada. He grins like crazy when Jeff gets home from work and loves to snuggle with him. In the evenings after bath time, we have started watching Wheel of Fortune together when he drinks his bedtime bottle. Jeff and I are hoping it will help him to become a strong speller and reader someday. Even though Nicholas's body will never quite work right, we feel comforted knowing that his mind will be in tact. Being able to communicate how much we love our little boy and knowing that he understands us gives us both a sense of comfort. And while Nicholas has not been meeting any of the physical milestones most kids do during their first year, he has met all of the intellectual ones.

We also have a great deal of hope that medical researchers will be able to find a treatment or cure for SMA in Nicholas's lifetime. We know that with God anything is possible and we trust completely in Him.


We realize that we have a tough road ahead of us, but truly, we feel so blessed to have such a wonderful child. Nicholas amazes us everyday with his happy attitude and constant affection. We honestly feel like the luckiest parents in the world to raise such a wonderful boy.