Claire 4 Rare Meets Jessica and Makayla

Makayla’s Story: Chasing A Diagnosis 

Welcome back to Claire 4 Rare! This month’s column features a mother and daughter duo. Jessica and Makayla were an absolute joy to talk to and they didn’t shy away from touching on the difficult topics as well. Please enjoy this uplifting story. 

A young girl who refuses to be labeled as fragile. Medically or otherwise, 11 year old Makayla prefers to be referred to as complex. Complexity is something one can work through to understand and overcome, and fragile is the last word I would use to describe anyone with a rare disease, especially Makayla. 

Makayla’s case is rarer than most. She has a laundry list of unrelated symptoms and diagnoses which all seem insignificant to Makayla and her family when they think about the one diagnosis which they do not have. In true rare disease fashion, the search for a diagnosis has been an agonizing and never ending journey for this family. While Makayla may vaguely fit a few of the criteria for a handful of rare diseases, they have not yet found the perfect match for a diagnosis. This poses a problem, specifically in a medical setting. “Without a diagnosis you don’t have the validation.” Says Jessica, Makayla’s mom. This results in a large chunk of valuable time being spent convincing medical professionals that what Makayla has is real. Even after that, how do you treat something if you don’t know what it is? Makayla swings in and out of one diagnosis called Primary Ciliary Dyskinesia otherwise known as PCD. PCD is caused by genetic mutations that affect the tiny hairline cilia in the lungs, nose, and ears. This impairs a patient’s ability to remove germs and pollutants from those pathways, which causes mucus buildup and infections to develop. In Makayla’s case, she suffers from chronic sinus infections, common bleeding of the sinuses, chest pain, respiratory infections, and breathing difficulty. Makayla has had around 10 surgeries resulting in the deconstruction of her sinus walls and she does daily treatments with a vest commonly used by Cystic Fibrosis patients.The vibration of the vest against the chest wall helps to loosen mucus and clear out Makayla’s lungs. Presently, Makayla is out of this diagnosis but her current treatment plan is one that follows PCD protocols. Cilioathy is the vague term that Makayla’s doctors are using until they can better understand her undiagnosed sinus and lung disease. 

Makayla also suffers from Cyclic Vomiting Syndrome which is a disorder that causes sudden, repeated attacks of severe nausea and vomiting. Once Makayla starts vomiting, she can’t stop. She will consistently throw up every twenty minutes until she is able to get to a hospital. These episodes have caused Makayla long term harm including permanent kidney damage and a torn esophagus. With the help of a neurostimulator device developed by Dr. Katja Kovacic at Children’s Wisconsin, Makayla is able to avoid these episodes at times. 

For Makayla and her family the worst part is the uncertainty. However, Jessica acknowledges the silver lining as well. “We see the best part of people. Humans loving other humans”, she says. Makayla didn’t shy away from sharing her thoughts as well adding, “Sometimes I don’t like it and I get angry about it but sometimes I think it makes me braver and a better person”. Makayla and Jessica are warriors not just for themselves, but for others as well. While more than 7,000 rare diseases have been identified, only 5% have treatments. They use their experiences to inform and inspire. “We speak out because we want awareness, not attention” Jessica adds. If we don’t speak and we don’t share our experiences where does the funding for research come from? Where does the awareness or recognition come from? There’s enough to go around. 

Makayla has taken her “complexity” and turned it on its head. Not only does she fight in the hospital but outside as well. At eleven years old Makayla has already shared her story with hundreds of strangers and has become a patient advocate for herself and others like her. By sharing her story it is to her advantage but it’s also to the advantage of the people around her because they can learn from her. On top of it all, Makayla has time to be an adventure seeking, tree-climbing, hippo loving, and future zookeeping superhero. She is conquering life and all it has to offer and if you didn’t realize already, nothing can stop her. 

What Does RARE mean to you? 

“Rare to me is the truest form of individuality and complexity. Being rare is to be filled with mystery and the need for more information, awareness and advocacy. But being rare is also being unique, giving you the gift to see the world from a perspective unlike any other. Rare is strength, beauty and resilience.”

If you are living with a rare disease or know someone who is, please contact me at claire.bevec@harmony4hope.org. I would be honored to share their story here! If you don’t feel ready to do so, that’s ok too. I would be so happy to just meet and chat with you. I understand sometimes it’s hard to find someone to talk to who also knows what living with a rare disease is really like. We’re rare, but we’re there!