(WSVN) - So little is known about rare genetic disorders, a cure or even a treatment is sometimes not even in sight, but as 7’s Kevin Ozebek tells us, one Miami family is working to change that. Here’s his special assignment report, “Hoping for a Cure.”
Ibrahim Al-Rashid, Eesa’s dad: “I’m going to get you!”
In so many ways, Eesa Al-Rashid is a typical 2-year-old.
He loves playing with his parents. He’s obsessed with cars.
Ryann Al-Rashid: “The deal was you can’t hide.”
And, except when Eesa is around strangers, he’s a ball of energy.
Ryann Al-Rashid, Eesa’s mom: “He’s hilarious. He’s brilliant. I think he’s extremely smart for his age.”
Kevin Ozebek: “Is he the boss of the house?”
Ryann Al-Rashid: “Absolutely, 100%.”
It’s all smiles during playtime, but his parents worry about him. That’s because he was born with an ultra-rare genetic disorder called geleophysic dysplasia, or GD.
Ibrahim Al-Rashid: “Neither of us had heard of GD, and in fact, a lot of the doctors that we first initially consulted had never heard of it.”
The Al-Rashids found out the disorder can be life-threatening, so they turned to the University of Miami Miller School of Medicine for answers about GD.
Dr. Mustafa Tekin, UM Miller School of Medicine: “They usually have short stature and short fingers and toes, and they may have health problems related to heart and the respiratory system and skin and some other systems as well.”
Dr. Mustafa Tekin leads the Human Genetics team at UM’s medical school. He is also Eesa’s doctor.
Now, thanks to a $3 million donation from the Al-Rashid family, his team is fast-tracking their research into GD.
With money dedicated specifically to GD research, they hope to find a treatment or even a cure.
Dr. Mustafa Tekin: “We are very, very grateful and lucky to have the Al-Rashid family, who donated us funds to get started.”
Geleophysic dysplasia is so rare, there’s a very good chance you have never in your life passed someone on the street who has it.
Worldwide, only about 50 cases have been reported, so Dr. Tekin is pleading for the handful of families affected by GD to reach out and take part in his research.
Dr. Mustafa Tekin: “That’s why having more patients involved that we study and understand more about individual mutations and some of the characteristics that are specific to certain mutations, then our chance of finding a cure for more people, actually, will be available.”
But already, Dr. Tekin is hopeful he can help Eesa.
Dr. Mustafa Tekin: “I am optimistic. Absolutely.”
The more his team can learn about GD, the better the chances they can treat other rare genetic disorders as well.
Ryann Al-Rashid: “Whatever we find out could help hundreds, thousands of people in the future.”
Ibrahim Al-Rashid: “One of the things in life that makes life easier is to know that we’re in this together, right? Whether it’s something positive or whether it’s something negative. You know, to know that we’re a team is a beautiful thing.”
So while inside the UM labs the research into GD races on, Eesa continues to enjoy his playtime.
And Ibrahim and Ryann appreciate every moment with their little boy.
Ibrahim Al-Rashid: “Can we get a wave?” (Eesa waves.)
Kevin Ozebek: “Yeah!”
Ibrahim Al-Rashid: “He’s taught me to be more present in my life and to really focus on the here and now, because ultimately, that’s all we have, right?”
If you know someone who has been diagnosed with GD, the University of Miami Genetics Department would like to hear from you.
FOR MORE INFORMATION:
University of Miami Miller School of Medicine
Genetics Department
305-243-2381
umiamihealth.org/en/treatments-and-services/genetics
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