Being diagnosed with a rare disease can bring on various emotions; everybody’s experience is unique to them. Some feel relieved to finally put a name to their symptoms; others are frustrated, while others may be angry or scared. For three-year-old Maisie Cornally and her mother, Shauna, they were thankful when Maisie was finally diagnosed with juvenile dermatomyositis (JDM). They were grateful to the doctor who figured out what had been impacting the youngest Cornally for so long.
This thankfulness was not the only emotion present during the diagnosis; both Shauna and Maisie have dealt with the obstacles and struggles that often confront rare disease patients. However, they are both grateful for Maisie’s health and the rare disease family that they have found.
Maisie’s Story
The first sign of JDM that Maisie and her family noticed was a rash on her stomach. Nobody thought much of it, that is until it spread across the rest of her body and face. Then, in May of 2018, Shauna began to notice issues with mobility. Maisie would often fall or complain of leg pain, and things only progressed from there.
A physiotherapist sent the family to the Portlaoise hospital in Ireland, where doctors recognized the rash as JDM. Luckily, they discovered the root of the problem quickly. If left untreated, JDM can result in permanent disability or be life-threatening.
She was immediately prescribed a high dosage of steroids and sent to appointment after appointment. This first year of treatment was very difficult, according to Shauna. She said that the medications resulted in adverse effects like extreme bloating, and Maisie contracted meningitis on two separate occasions. For a period of time, she used a wheelchair due to her symptoms.
Now, three years after diagnosis, Maisie is doing very well. Her growth and development are on track, her symptoms are managed, and she no longer needs a wheelchair. Her disease is inactive due to the medication she is on. Now, she loves to spend time with her friends and has loads of energy.
Maisie also loves to advocate for herself and others with JDM; she is constantly educating those around her.
Rare Ireland
While it has been difficult to connect with other families impacted by JDM, Shauna and Maisie have found a family with the Rare Ireland support network. The organization helps to advocate and raise awareness for rare diseases, while also providing a sense of family for patients and their families. The network is full of people who understand the experience of living with a rare disease, which has been very helpful and supportive for Shauna and her daughter.
They also help to address common concerns, with a major example being the COVID-19 pandemic. Maisie is immunocompromised due to the medication that she takes, putting her at a high risk of complications from the respiratory virus. This, along with concerns about the vaccines, are topics that Shauna finds help with from those in Rare Ireland.
About JDM
Juvenile dermatomyositis (JDM) is a form of myositis that sees inflammation of the muscles, blood vessels, and skin. Females are affected twice as often as males, and impacted individuals typically see the onset of symptoms from ages five to ten. These symptoms include progressive muscle weakness, skin rash, voice changes, issues with the lungs, weight loss, fatigue, fever, stomach ulcers, tears in the intestines, difficulty swallowing, and hardened calcium deposits that sit under the skin. Medical professionals believe that these symptoms are the result of an attack on the body from its own immune system, but they are unsure of the exact cause. Regardless of cause, the goal of treatment is to prevent permanent complications, reduce inflammation, and improve muscle function. There is no cure. Doctors may prescribe corticosteroids, methotrexate, steroid-sparing agents, and immunoglobulin.
Find the source article here.
