A boy named Nicolas is the reason for a lot of good things…
To sit, to stand... are milestones each new parent awaits with such eagerness from their little one. But early on Petra and Rolf just knew there was something not quite right with their baby boy, Nicolas. Having an older daughter, Isabel, they thought they knew what to expect. They noticed that little “Nico” didn’t lift his legs up when he laughed as they tickled his tummy, the way his sister would have done, he didn’t roll over or lift his head steadily when they thought he should, and he didn’t dig his toes into their stomachs on landing when they bounced him over their chests.
When he missed his first significant milestone, sitting on his own at the age of 6 months, Rolf and Petra took him to see a pediatrician, who referred them to a neurologist at B.C. Children’s Hospital. After a series of tests, it was here, at the age of 8 months, that little Nicolas was diagnosed with Spinal Muscular Atrophy (“SMA”) Type 1.
Now 2 years old, Nicolas is defying the odds. He greets you with a twinkle in his beautiful bright blue eyes, a smile and a flash of red hair. A fairly normal situation and family picture, if not for the fact that little Nicolas is strapped into a standing frame which allows him to stand with strong support while his mom is feeding him a cookie.
“We need to be very careful when he is eating or drinking because of the risk of choking and aspiration” Petra says. “He struggles to cough but luckily he has never had a bad cold. We are super-vigilant, especially during flu season”. I take a step back, just in case, as I suddenly feel very aware of my presence in this home. Nicolas begins to cry and his mom takes him out of the standing frame and sits him on her lap. Petra points out that it is good for him to have the sensation of standing, it stretches his muscles out, improves bone density, prevents contractures, prolongs inevitable onset of scoliosis to name a few and gives him some sense of normality.
Petra says since his diagnosis, he has not followed the normal path of this cruel and awful disease and has, in fact, gotten stronger. “I credit all the therapy for the fact that his status has improved from a Type 1 to a weak Type 2”. He receives continuous weekly physiotherapy, aqua therapy, as well as osteopathy and chiropractic treatments along with two daily sessions of range of motion stretches and massage. “He can move his legs in the water and take steps with 1 lb weights on his ankles,” his mom notes. Water therapy is the one environment which allows him freedom of movement.
He is playful and caring, and smart as a button, I learn as he pages through the hard page book looking at the various colourful pictures. He has an incredible spirit and a huge sense of humour, qualities he shares with his sister. “Nobody can make him laugh the way she does” his dad points out. “Izzy and Nico are a very unique little duo and share an amazing connection. She dotes on him whole-heartedly and helps her mom and little brother in every way a four-year old can”.
The Gwendolyn Strong Foundation explains that most babies with SMA are born after a normal pregnancy, are seemingly healthy, and pass all current newborn screenings. SMA is a terminal and degenerative disease that causes weakness and wasting of the voluntary muscles in infants and children. Specifically, the disease is caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. As the motor neuron network breaks down, the ability of the brain to control muscles diminishes and with less control and use, muscles weaken and waste away. Simply, SMA eventually impacts every muscle in the body hindering the ability to walk, stand, sit, eat, breathe, and swallow. The mind always remains unaffected and as Nicolas demonstrates, children with SMA are bright, sensitive, and playful in spite of their failing bodies.
Rolf and Petra found it difficult to share their story at the outset of the diagnosis but realize the importance of discussing it with the hopes of helping other families dealing with similar situations. “Since the diagnosis it has been a whirlwind of emotion, we needed time to be together and find our strength as a family” Rolf says. Although they have received support from the government through The At Home Program, Variety Club as well as occasional respite care from the wonderful people at Canuck Place, they have, for the most part, been responsible for all of Nicolas’ care and therapies themselves.
“It is very difficult to ask for help” Rolf says. “We just want people to know that this is all for Nicolas, we’re reaching out because he is already totally defying the odds. Nicolas is so much more than his SMA; he is the reason for so many good things in our lives…He has come on in leaps and bounds with therapy and he deserves every good thing life can bring. We just want to provide him with the best chance for improvement” says Rolf.
Many friends who have been touched by Nicolas’ charming personality and beautiful spirit have stepped in to help create “A Boy Named Nicolas” Campaign to assist with raising much needed funds to assist the family with providing Nicolas with the opportunity to live a normal life. This includes an above ground pool for water therapy, a wheelchair-accessible van and major home modifications that will give Nicolas freedom, security and an accessible environment.
Over the past 3 months, the team – called Nicolas Nation, has taken the project to a whole new level for the family. The team which started with accountant Claire Gullmes and her husband Derek and Calum Crawford, a graphic designer, has now set its sights on new fundraising activities and will announce that, with support from President Andrea Cihelka of GARA Construction, that an “Extreme Home Makeover” will be happening for the family in mid 2015. In order to complete the project Nicolas Nation has grown to include Robb Farion - a web developer, local businessman Dean Barbour, REMAX realtor Jim Williams and Jonathan Tarnowski, manager of the Maple Ridge Liquor Store on Lougheed Hwy and 207th.
On his own, Jonathan and his team at Maple Ridge Liquor Store have been supporting “A Boy Named Nicolas” by offering 5% of all liquor sales to be contributed to the campaign when patrons present their Nicolas Card and say his name at time of purchase. Contributions continue to grow daily as the word spreads through the community.
Looking around the home, I see the word BELIEVE hanging boldly above their dining room table. A word the family reminds themselves of daily. Of over 600 neuromuscular disorders, The National Institutes of Health has named SMA as the disease closest to treatment. Scientists consider SMA a model disease with direct impact on research benefiting millions of people. Added to this is “Nicolas’ determination to find ways to move, to sit, to stand and to laugh. Rolf stresses “We gain hope with each micro-success and of course we believe in Nicolas”.
As I get up to go, Nicolas begins to play with a musical toy…“He has a great rhythm and loves music” Petra says as she lovingly watches Nicolas. I see evidence of this as he makes some pretty cool hip-hop moves to the music that any mom will be proud of. He smiles and waves good-bye. Perhaps it was the sunlight catching his beautiful eyes just right, but the twinkle seems stronger still.
To this family…Nicolas is a LITTLE STAR!
Facebook support page (https://www.facebook.com/pages/A-Boy-Named-Nicolas/606296976126778)
Families of SMA Canada (http://www.curesma.ca/)