CARRIE REA: Christopher is hilarious, he is very funny.
CARRIE REA: He is, you know he is into wrestling and video games and the computer and he loves Skylanders,
you know, he is an all round happy kid.
COMM: 18-year-old Christopher has a form of dwarfism so rare that it only affects
one in every 250,000 births worldwide.
CARRIE REA: When Christopher was born, he looked like a perfectly healthy baby. He was eight pounds five
ounces. It wasn’t until he was about 18 months old that they started to notice skeletal deformities; knock knees,
his feet turning, his chest has sunken in, his chest and ribcage kind of flares out.
They first thought that he had Sanfilippo syndrome. But it wasn’t Sanfilippo, it was Morquio.
CARRIE REA: Morquio syndrome, which also goes by the name Mucopolysaccharidosis type 4A, which is why
they call it Morquio syndrome because who wants to say all that? It’s a lysosomal storage disease.
The children are missing an enzyme that is required for the breakdown of sugar molecules.
COMM: Unlucky for Christopher he has all the symptoms of Morquio syndrome, which amongst other things
meant he has lost the ability to walk due to skeletal abnormalities.
CARRIE REA: He stopped walking when he was around six or seven. That was difficult because of the
deformities you know, he had a little hard time making friends because he was already shy.
And then he couldn’t run and play with the other kids.
CARRIE REA: Yes he did have to deal with bullying, you know he was pretty miserable there.
So we withdrew him and we homeschooled him.
COMM: But it wasn’t just Christopher who was born with his rare form of dwarfism.
His two younger sisters also have the condition.
CARRIE REA: To have one child with Morquio is extremely rare. Morquio syndrome only occurs in one in
300,000 births in the United States.
And once you have one with Morquio, you have a one in four chance and we have three.
CARRIE REA: I think that it has been easier for the girls than it was for Christopher because they don’t seem to
have some of the issues that he’s had like the enlarged organs, theirs are still normal-sized.
Ember and Ashlyn are both extremely happy children and they are like best friends, you know,
they are always playing together.
CARRIE REA: Oh the biggest challenge of having three children with Morquio syndrome, I would say,
is all of the hospital visits.
COMM: All three children have had to have numerous surgeries due to their condition.
As well as taking a multitude of medicine every week to help with the symptoms.
CARRIE REA: This is the closet were we keep the kids medical supplies. They receive a shipment once a month
of medical supplies. So we have got their container for all of their needles and then the top has the IV bags and
saline solution and tegaderm and just all the supplies that the nurses need that they use on a daily basis and
their medication has to be refrigerated.
CARRIE REA: This medication - Christopher takes 10 vials a week, Ember takes six and Ashlyn takes five.
It’s based on weight, and with it they take a pre-med of Benadryl and Tylenol. The Benadryl is to help in the event
of an allergic reaction and the Tylenol is to keep them from getting a fever.
CARRIE REA: You know Ember, she is more of a diva and Ashlyn is, she is very shy.
CARRIE REA: Christopher, he is a character all by himself, he really is very funny and very stubborn and you
would think with an attitude like that he’d be a lot bigger.
CARRIE REA: But once he gets somebody to sit down and talk to him about his video games you know,
he is in heaven, that’s what he loves.