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Hunter and Parker Grove look like typical healthy little boys, but this could change
at any time. The brothers are susceptible to recurring, severe infections with Epstein-Barr
virus or EBV.
Parents Lisa and Ian didn’t know why their sons kept having these infections. They only
knew that their boys might each need a bone marrow transplant to address the condition.
It’s a hard pill swallow to look at that kind of a treatment and why you’re doing
it. And we would just pray “Please, if we could just hold on long enough to figure out
what this is,” to have the confidence going into something that. And that’s what it’s
given us.
At the National Institute of Allergy and Infectious Diseases, federal government researchers study
rare diseases that affect families like the Groves.
Senior investigator Mike Lenardo and grad student Feng-Yen Li found that a mutated magnesium
transport gene was causing the brothers’ condition.
We examine families that have children that have deficits in the immune system or abnormalities
of immune homeostasis – they have too many lymphocytes growing, sometimes that leads
to cancer. And our job in analyzing those families is to try and understand the genetic
basis of their disease because these are inherited disorders that the children are born with.
As an outgrowth of that program, we came in contact with the Grove family. They had gone
to several different medical centers in the U.S., and they’ve not gotten an explanation
for why their children were sick; there were two boys in the family that were affected.
And so we decided to use our knowledge and some new technologies to try and get to the
basis of what was causing their disease.
The study team named the boys’ condition XMEN disease, for X-linked magnesium deficiency
with EBV and neoplasia.
The good thing is both of them are still very young and very healthy of course, which continues
to be the head scratcher, I guess, in this deal is why would you put them through so
much when they look and act the way they do, so it’s kind of complicated.
XMEN disease puts the boys at risk of cancer, so the Groves still need to decide about the
transplant. But they’re relieved to finally have a diagnosis.
You have to have a lot of patience. We’ve been coming here for almost 5 years. It’s
just been a steady progress…patience and belief that you know that who you’re with
and what you’re doing is the right thing. We know there’s nowhere else in the world
that we’d rather be than here because of who we work with and what they’ve done for
our family. It’s pretty special.