Grandma Notices Something
Mimi’s mother had noticed that Brady didn’t “bounce” off her lap like when she held other children. At their next pediatric visit she mentioned this concern to her pediatrician. The concern was ignored. But by nine months old, the family truly became concerned. Brady had met a milestone of sitting unassisted at seven months. That was the last milestone that he met on time.
Not Hitting Milestones
He was not crawling or pulling himself up to a standing position, and he began to have trouble lifting his head up during tummy time. As concerned parents, Mimi and her husband Kevin pushed their pediatrician to take notice and she finally did. Brady was then referred to a pediatric neurologist. He was nine months old.
Life changed forever after that. For the next 6 months a battery of tests were performed, all coming back either inconclusive or normal. Yet the family knew something was wrong. Brady’s lack of progress was anything but normal.
Trip To Beijing
The parents felt they were getting no where, and time was slipping by. Mimi is of Chinese decent, and she and her husband decided to pursue a somewhat drastic move. Mimi and her mother, would take Brady to China and have him looked at in Beijing Children’s Hospital. It is not easy to get an appointment there, but the family had a connection and a nurse managed to see Brady within a few days of their arrival.
“This was not the friendly, sanitary environment of UNC Hospital,” Mimi said. “When we finally made it into the consultation room with the doctor, my mom began telling her our experience with Brady: weak muscles and loss of some ability recently.”
“Without so much as lifting his shirt for an exam of any sort, the neurologist shared her suspicion of Spinal Muscular Atrophy (SMA) and sent us downstairs for yet another blood draw. This time, for genetic testing.” – Mimi Chan
From that moment on, the family rallied to keep Brady from losing the strength he still had. Her husband Kevin, back in the states, began research and the family figured out a series of therapies both physical and occupational to keep Brady’s muscles as strong as possible. But Mimi still regrets how long it took to reach a diagnosis of SMA. That time she can never have back, and in her heart feels a mother’s sense of guilt over “what if…” She knows he lost the ability to roll over,a skill he will never regain.
What is SMA
The medical definition for Spinal Muscular Atrophy (SMA):
A genetic disease characterized by progressive loss of lower motor neurons (anterior horn cells) in the spinal cord, resulting in symmetric muscle weakness and atrophy.
(From Boston’s Children’s Hospital)
- SMA is the number one genetic cause of infant mortality.
- About 10 to 16 out of every 100,000 children are born with SMA.
- There are three types of SMA, determined by the highest motor function the child achieves.
- Type I : (Most severe) Children have limited movement and cannot sit without support, have labored breathing, and have trouble feeding and swallowing. Symptoms emerge within months after birth.
- Type II: ( intermediate) Individuals with Type II may sit unsupported at some point but cannot walk independently. Symptoms typically emerge between 6-18 months of age.
- Type III : (milder). Individuals with Type III achieve the milestone of walking but may walk with difficulty because weakness is prevalent, and some individuals may eventually need to use a wheelchair. Symptoms typically appear later than 18 months.
Moving For Brady
Mimi feels fortunate that she and her husband have the resources to make a difference in Brady’s life. A home health nurse visits daily to assist in keeping Brady on track while his parents are at work. They have purchased numerous pieces of special equipment and are currently moving out of their 2-story un-handicap accessible house, and in the process of building a ranch. Brady cannot navigate stairs, and that meant that Mimi had to carry him up to his bedroom. At aged three, he is getting heavy, and unlike other toddlers, his legs cannot grip onto his Mom’s hips to give her some help.
For 3 years, Brady has been a very big focus of Mimi and Kevin’s lives. But about a year ago, they decided it was time to think about a sibling for their son. Mimi is due with their second child in October. With this second pregnancy, she is more aware of all the things that she took for granted before.
Hard Lesson to Learn
One of the hard lessons that Mimi learned and that she would like other parents to know is that if you think something is wrong (with your health or a loved one’s) you must be a fierce advocate for them. Ask questions, do research and continue to seek answers. That lost time she will never get back.
She resents the doctors who wouldn’t give her a straight answer. “We were seeing a pediatric neurologist, This is a pediatric neurological disease. Why didn’t they see it? We could have been doing therapy during all that time, but we didn’t know what to do”.
Mimi has organized a fundraiser dedicated to finding a cure or treatment for SMA. The Love Hope & Strength Fundraiser takes place on Saturday, August 10th at Flanders Art Gallery in Raleigh. This is the largest event in the Triangle dedicated to finding a cure or treatment for SMA. The evening includes cocktails, live entertainment, a silent auction.
Love Hope & Strength Fundraiser
Flanders Art Gallery, 302 S. West St, Raleigh
August 10, 7-10:00 pm
Ticket Prices: Ticket Prices: $30 Online, $35 At the Door
If you would like to learn more about Love Hope Strength or donate, visit their website.
For more on Brady’s story visit Mimi Chan’s Blog.