Benefit to Help Young Alden Girl Battling Extremely Rare Condition

July 13, 2018

Written By

Mary Friona Celani

Mackenzie Refermat is a vibrant, happy, middle child of a large blended family. She is a happy, loving 9-year-old. She is also going through more than most could even imagine.

Last November, Mackenzie was diagnosed with Parry Romberg Syndrome.  PRS is an extremely rare, progressive, incurable autoimmune disease that causes hemi-facial atrophy; meaning it causes half the face to waste away.

Every case is different and symptoms may include facial atrophy, debilitating migraines, tooth loss on affected side, ADHD, seizures, strokes, loss of vision on affected side and other neurological problems.

Mackenzie has multiple symptoms. Parry Romberg Syndrome is so rare that there are less than 1,000 known cases worldwide. The odds of having PRS are approximately a one in 6,000,000 chance. Research is limited and treatment options vary, with no sure results. PRS is a disease of “unknown origins” and therefore there is no known cure. Some people have had successful results from Methotrexate, a low dose chemotherapy drug, and steroid therapy. Immediately following the diagnosis, Mackenzie started on this protocol but unfortunately; it has not stopped her progression.

In early spring of 2018, Mackenzie’s mother, Cathie, was introduced to Dr. Siebert; the only physician, who does a surgery called Micro Vascular Free Tissue Transfer. Dr. Siebert will take healthy tissue from another part of Mackenzie’s body to replace the diseased tissue in her face. With gene sequencing, the tissue changes back to normal following surgery. Facial growth and soft tissue will become normalized. This gives us hope. This is the only option to save Mackenzie’s face. This is Mackenzie’s Miracle.

Mackenzie’s first surgery has been scheduled for July 23, 2018 in Wisconsin. Even with insurance coverage, Mackenzie’s family will still be responsible for a large portion of cost. There is a minimum three-day hospital stay for the surgery in July and two weeks total to be spent close to the surgical team in Wisconsin.

 

Family and friends are hosting a benefit to help this family with medical, travel and living expenses.

WHEN: Sunday, July 15th from 1-4 p.m.

WHERE: Cowlesville Fire Hall, 361 Clinton St, Cowlesville.

The benefit will include a Chinese auction, silent auction, raffle tickets, 50/50 split along with other kid friendly activities.

The goal is to raise at least $25,000 to cover the out of pocket medical expenses for the initial and follow-up surgeries, travel expenses and loss of wages for Mackenzie’s mother.

Online donations can be made to: https://www.gofundme.com/miracle-for-mackenzie.

More on Mackenzie HERE. 

 

Related:

Celebrate National Ice Cream Day and Help Mackenzie – Talk About a WIN-WIN

 

 

About Me

Welcome to Totally Buffalo! My name is Mary Friona-Celani and I am the creator of this site! After spending 20 years in the Buffalo media, I moved on to focus on my beautiful family. Now, the time has come for a new project. I was ready for something new. Something mine.
I am born and raised in WNY and my pride runs deep. My husband, Scott and I are very happy to be raising our four daughters here.

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