“We hear, ‘We’ve never seen anything like this,’ ” says Qwyntnn Patton, “We hear that so often.”
Patton, the mother of three daughters, Kaydence (8), Mallory (4) and Presley (1) lives in Joplin, Missouri with her husband, Justin. Patton and her daughters have been diagnosed with a rare genetic mutation of the EPHB4 gene and a vascular syndrome called Capillary Malformation Arteriovenous Malformation or CM-AVM2.
“The EPHB4 gene has two copies in the body. We have one good copy and one that is missing over half. The missing link of the EPHB4 causes the creation of CM-AVM2.”
According to Patton, their bodies do not contain a vital protein to form vascular tissue properly.
“There’s so little known what the causes and effects are. You get to a point as a parent that you want all the answers but as you get the answers you kind of want to take a step back and pretend we didn’t know anything of this.”
The story begins when Mallory was 9-months-old and Patton noticed something odd on Mallory’s right leg.
“There was a spot on her leg. It didn’t have too much color to it, at that point, and it felt hot to the touch compared to the rest of her body,” she illustrates, “We didn’t have too much concern about it and didn’t know where we should go.”
After a year and a half passes by, the spot gets bigger and similar spots appear near her collarbone. Mallory was referred to the dermatology clinic at Children’s Mercy Hospital in Kansas City to see if everything is ok.
“The first doctor that comes in says he thinks it’s probably a birthmark because I have a birthmark. They are both right-sided. Mallory’s is on her right leg and mine is on the right side of my face.”
Another doctor is asked to see the family and he disagrees with the previous determination.
“He came in and stated it was a disease called Scleroderma and he could tell from just looking at it.”
Scleroderma is a rare chronic connective tissue disease that includes the tightening of the skin. It can affect bone and joint growth. The disease varies from patient-to-patient.
A biopsy happens that same day and a few days later, Patton gets a call from the hospital.
The spot showed increase deposits of collagen. Mallory starts treatment for Scleroderma immediately. This includes steroid infusion for 3 months, weekly injections of methotrexate and bi-weekly injections of arthritis medication. There were no improvements after a year and a half.
“You become completely robotic and go with the motions. When you’re going through the grieving process you don’t want to have any false hope that things are getting better or there’s some kind of light at the end of the tunnel. It’s been taken away so many times.”
With Mallory’s diagnosis of Scleroderma, Patton joins a Facebook group of parents who have children with the same disease. Multiple parents recommend that they take Mallory to the University of Pittsburgh Medical Center (UPMC) in Pittsburgh, Pennsylvania.
In September 2019, the family saw multiple doctors in Pittsburgh. The family was told from the doctors in Pittsburgh, they had never have seen anything like what Mallory has.
They were also skeptical about if she had Scleroderma.
“One doctor looks at Mallory’s body and sees even more little spots compared to the big spot on her leg. The doctor says its not typical for Scleroderma. It’s not typical for the spots to grow at an alarming rate. If they were to grow, it would be at a very slow rate.”
Another doctor, Dr. Garret, observes the mark on the right side of Patton’s face.
“I decide to not wear makeup that day, I don’t know why or what told me not to. Dr. Garret looked at me and said she was pretty sure it was a mutation that was passed from me to Mallory.”
One month later, the results from Mallory’s genetics come back positive for a mutation of the EPhB4 gene and CM-AVM2. Shortly afterward, Patton, Kaydence and Presley were tested for the same genetic mutation and learned all were positive.
“There’s always a fear at the back of a mom’s mind that something bad will happen. But to find out something like this, it just strikes more fear than what you could even explain.”
Not much is known about the future for the Patton Family other than driving back and forth from Joplin to Kansas City more frequently for doctor appointments. Their next appointment is on Wednesday, February 19th.
“They are still kids and I’ll try to keep their lives as normal as possible,” she continues, “The kids love going to bounce houses, riding their bikes and as long we can do that I’m gonna let that happen.”
The Patton Family organized a GoFundMe page in hopes to receive donations for medical and travel expenses.