AANEM Foundation News Express

AANEM Foundation News Express

Hattie’s World with SMA: Donuts, Dinosaurs, and Doctor Visits

12/14/2018
 
“Her favorite thing is to play.”

Hattie McBride, 2, plays with princesses, dinosaurs, and Mickey and Minnie. She dons a cape to become a superhero, colors pictures with her crayons, and gets her fingers dirty with Play-Doh. 

Playtime is standard in Hattie’s life, but so are her visits to the doctor … which have become more frequent since being diagnosed with spinal muscular atrophy (SMA) strong type 2 earlier this year. 

“Hattie’s SMA was discovered by a genetic test, but that’s not where it started,” explained Hattie’s mom, Kelsey. “When Hattie was about 18 months and still not walking, we became concerned. Hattie’s feet turn in a lot, almost as if she stands on the inside of her feet. The physician was not concerned, but we wanted to do something. Hattie ended up getting SMOs – orthotics to correct foot and ankle alignment – and we started physical therapy.”

Despite these measures, Hattie’s parents were not seeing any progress. So, they contacted Texas Children’s Hospital to meet with a physical therapy specialist. 

“She ordered an MRI, but that came back clear, so she sent us to a neurologist because Hattie lacked reflexes. The neurologist ordered a muscle and nerve test and that’s where they found something,” Kelsey recalled. 

Kelsey remembered the neurologist saying Hattie would be tested for SMA to “get that out of the way in case it was negative.” Kelsey said the neurologist advised her and her husband to not do any research on SMA “because it can be scary.” 

“She didn’t want us upsetting ourselves because we needed to wait for the test results. However, as parents and not knowing what SMA was, we looked it up. It was, indeed, scary, and we prayed that our Hattie didn’t have it.” 

“I will never forget the day I got the call with the results.”

Hattie’s test results confirmed that she did, in fact, have SMA. 

“Even though all signs pointed to SMA … to have it confirmed was just heart shattering. It was life altering news. A million thoughts went through my mind like, ‘How are we going to get through this?’ and ‘How will we afford the things she needs?’”

When the scary thoughts and worries passed, Kelsey and her husband determined they would simply take things one step at a time. 

“We realized what a blessing in disguise this really is. Hattie was a blessing from the beginning and we are grateful God blessed us with such an outgoing little girl. No matter what, we would figure this out and love her unconditionally,” Kelsey stated. 

AANEM describes SMA as a disorder that causes weakness and wasting of muscles. The condition may be acquired or hereditary. The hereditary SMA syndromes are genetic diseases that cause motor neurons in the spinal cord to degenerate and die, causing muscle weakness. 

“Hattie doesn’t know any different. This is her normal. This is OUR normal.” 

Once they received the diagnosis, Hattie’s parents immediately got on the waiting list for Spinraza® (Biogen’s FDA-approved treatment for SMA). It took 5 months, but ultimately, their insurance approved the treatment. 

“Hattie just received her fourth shot in October 2018 and is done with them for the year. Before she started the shots, Hattie was getting checkups with the neurologist, pulmonologist, physical therapist, nutritionist, and orthopedics every other month. Now that she’s on Spinraza, we’re visiting them every other week. Our doctors are in Houston, Texas, and we live in Louisiana, so this is a 2-hour drive for us each time,” noted Kelsey.  

However, the doctor visits should subside since Hattie just received her fourth dose. 

“Hattie will receive maintenance doses every 4 months for the rest of her life and will continue with whatever checkups are needed in between.” 

Kelsey says the drug treatments have positively impacted her daughter. 

“Hattie can now stand up when holding on to something and do calf raises. Her speech has improved and she does not hardly get her little tremors anymore. They are small steps … but they mean so much!” 

Kelsey’s dream would be for researchers to find a cure for her daughter. 

“This disease is cruel and it takes the lives of children and their independence away, some faster than others. Each child deserves a chance to live a better quality of life than they do with SMA. To never see your child run or dance, or for some, to never see their child leave their wheelchair or bed, is just frustrating and completely heartbreaking.”

That’s why, Kelsey says, research on neuromuscular diseases, like SMA, is very important. 

“Through this research, scientists can hopefully find even more ways to improve the lives of children with SMA. Maybe they’ll even find a cure. That’s the big goal.”

And to Kelsey and Hattie, donations from the public mean everything.  

“People need to dig deep to help support this research. I know I had no idea what SMA was until Hattie got diagnosed. There isn’t much awareness. But it is so very crucial that we continue studying this disease and its effects.”  

“Hattie deserves a good life and that’s what we want to give her.” 

In the meantime, Kelsey is excited to celebrate Hattie’s third birthday this coming February. The theme involves two of Hattie’s most favorite things – donuts and dinosaurs. 

“My Hattie is a spunky girl who does not let this disease get in her way. She is smart and resilient, beautiful on the inside and out, and on top of that, the strongest little girl I know.” 

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