A Chatham-Kent family is hoping to raise awareness of a rare neurological disorder that their five-month-old daughter was recently diagnosed with.
Shrewsbury couple Dustin Pickard and Nancy Knelsen said they didn't think anything was wrong with their daughter Weslynn before she was diagnosed with spinal muscular atrophy 1 (SMA1) recently. Knelsen described Weslynn as a "perfect baby" who was always happy.
"I honestly had no idea of anything being wrong," she said. "We just went for a normal checkup to get her immunizations and her shots, then her pediatrician was a little bit concerned."
That routine checkup led to Weslynn and her parents being sent to a developmental specialist and then a neurologist who confirmed the diagnosis. Knelsen and Pickard said it was a complete shock.
"It's just been one thing after another after another. It's just kind of crazy," said Knelsen. "They told us what they were expecting [the diagnosis to be] and if it wasn't that, it would have been something else. The results came back and it was confirmed she has SMA type 1."
SMA1 is a genetic neurological disorder that affects the nerves that control a person's muscles. It oftentimes leaves someone with muscle weakness, lack of motor development and deficient muscle tone.
"The signals that send the muscles from your brain and then back for them to move, they don't really connect, her signals aren't connecting," explained Pickard. "Because of that, your muscles can't grow, they shrink and pretty much die off. It's pretty scary."
Pickard and Knelsen family (Photo via GoFundMe)
Knelsen said the disorder has negatively impacted Weslynn's eating and breathing. In addition, she has a difficult time grabbing and holding onto things. The diagnosis will put her at risk for future complications including scoliosis. It also means that Weslynn's three-year-old brother will have to get tested, and if the couple has other children, there is a one-in-four chance that they will have SMA1 as well.
"It's going to be a struggle for the rest of her life and our lives too," said Knelsen.
According to Knelsen and Pickard, there are treatments available to help manage the disorder but there is currently no cure. Treatment is covered by OHIP but the trips back to forth to London and Windsor to receive it has put a financial burden on the young couple.
"I always say, I lived a lifetime before I'm even 25," said Knelsen. "Our first son was born 10 weeks early. Everybody's like 'oh, that's the hardest thing you'll ever go through in your life.' Now we get hit with this."
To help cope with the piling up costs, the pair's family has created a GoFundMe Page to raise extra money. Pickard said he's also in the process of organizing fundraisers later this year to raise money for Weslynn's future.
The couple hopes their story is able to raise awareness and bring attention to SMA1, a disorder that neither Knelsen or Pickard had ever heard of before. In hindsight, Knelsen said before the diagnosis, she noticed Weslynn had some slight difficulties with movements but didn't think anything of it. Now, she's hoping other parents know what signs to look out for, which include weak muscles, trouble swallowing, the inability to sit and slow reflexes.
"That's the main thing I want to get across. Awareness month for SMA was in August and I literally had never heard about it until the neurologist told me that's potentially what she had. I was dumbfounded," said Knelsen. "The more people that know about it, the better. I just want people to know. It's horrible and it happens."