“When I tried to kick or shoot the ball it wouldn’t go anywhere, no matter how hard I tried I couldn’t run as fast as I used to. Things I did all the time were becoming harder to do.”
16-year-old Mia Gasperini knew something was wrong when she started noticing she was having trouble doing things that most 14 year olds do every day. “Getting ready for school in the morning got harder, I would be brushing my hair or my teeth and my arm would just fall,” she added.
Mia wasn’t alone; members of her family saw the changes too. “Even when she was doing the things she loved, Mia just looked miserable,” said Gina Duncan, Mia’s mom. “I also noticed that her mouth and eyes were very droopy and every once in a while her hands would get weak,” she added.
Mia’s symptoms were on and off for about a year and a half. Mom Gina says she noticed gradual changes in her physical motor skills and her ability to complete everyday tasks. However, just as fast as the symptoms came they would go away.
“There would be days when she would have muscle weakness, and then there would be days that she felt fine. We took her to the doctor as things presented themselves and they handled everything as they came up,” said Gina.
Then Mia and her family noticed the symptoms got worse and started to become more frequent.
“I remember laughing at a joke with my friend when I noticed my face in the mirror and it didn’t look like I was laughing. Instead my mouth drooped down and I looked like I was snarling, I lost my smile,” said Mia.
“Mia was having trouble chewing and she had really droopy and weak eyes. I took her to the optometrist and she ended up needing bifocals at 14-years-old,” said Gina.
After seeing her optometrist and pediatrician Mia was referred to Dr. David Dredge, a pediatric neurologist at Baystate Children’s Hospital.
“Mia was diagnosed with Myasthenia Gravis, an auto immune disorder which attacks the place where the nerve and the muscles meet,” said Dr. Dredge.
The disorder causes the immune system to make antibodies that effect how information gets from the nerves to the muscle.
“While it normally occurs in older individuals, although rare it is also known to occur in adolescent females,” he added.
Symptoms of the disease include weakened muscles. However, there are two different types of the disease, and each type has a different effect on the patient’s body.
“The first type affects common eye movement such as eyelid closure. The second type, which Mia has, can involve every muscle in the body and can be life threatening if not treated,” Dr. Dredge.
Treatable, Not Curable
After diagnosis, Mia was admitted to Baystate Children’s Hospital where doctors worked to get her condition under control. Doctors explained that Mia’s condition is treatable but not curable and that it’s all about finding the right blend of medicines.
“They told us about a ‘magic pill’ that will help with her symptoms,” said Gina. “I remember them giving her the pill and she fell asleep. I left to go get her some clean clothes. When I returned it was like night and day. She was up and talking just like the old Mia, it was amazing,” she added.
Along with her medication, Mia also receives monthly infusion at the Baystate Children’s Hospital Pediatric Procedure Unit to help manage her symptoms. “My infusions take anywhere from four to six hours,” said Mia. “Even though I’m there for a while it’s an unbelievable experience, the nurses are phenomenal, they’re like family,” she added.
Although Mia had success with the medication and infusions, doctors removed Mia’s thymus gland.
“That gives her a better prognosis for her day to day life in the future and help increase chance of remission,” said Dr. Dredge.
“Due to her condition, they prepped us to expect anything. Procedures that complexly relax her body can be extremely dangerous for Mia. Anesthesia can cause the symptoms to increase and worsen,” said Gina. “We didn’t know if she would come out on a ventilator or worse,” she added.
Despite the concerns, Mia’s surgery was successful. Gina says the doctors and nurses went over and beyond when caring for her daughter.
“Everything went well with her surgery and she spent a night in ICU. They were so good to us during her stay. Her doctor, the surgeons and the nurses from the pediatric procedure unit came to visit her in the hospital,” said Gina.
The Road to Recovery
Mia continues to take her medicine and continues to come for monthly infusions to help to help manage her symptoms.
“Once she started doing the infusions her strength came back it was like she was a whole different person,” said Gina. “Now she’s going outside more, hanging out with her friends, we’ve got the old Mia back,” she added.
Today with the help of her neurologist and the nurses in the pediatric procedure unit, Mia is now able to live life like any other 16-year-old girl. Since her diagnosis, she’s gotten stronger and has even made her high school volleyball team, something she thought she could never do again.
“Mia’s long term prognosis looks good, she’s been stable and is really starting to improve,” said Dr. Dredge. “While there are some people who can go into remission, the main goal of treatment is to try and preserve as much function to try and have as much life doing what you need to do to be happy,” he added.