Imagine your newborn baby being diagnosed with an extremely rare
bone disease.
Then, being in a race against time waiting for a life saving
bone marrow match for your child.
Well, that's exactly what happened to my next guests.
With us today are Paul and Barbara Wursten, and also
joining us is one of the experts on this disease, Dr. Paul
Orchard.
Good morning.
Thank you so much for being with me.
Thanks for having us.
Barbara, let me start with you and Paul, what happened with
Ryan?
Tell me what happened when he was born.
It was a normal pregnancy, a normal delivery, and shortly
after he was born he was put into the NICU for being
jaundiced.
During that time, they just run a panel of blood work just as
part of the process of being in the NICU.
It kept coming back that his calcium was low, and the doctors
didn't know why.
So, after about a week and a half, we had him transferred to
another teaching hospital, and it was there that between all
the experts and all the facets of the hospital, he was
diagnosed with malignant infantile osteopetrosis.
And Paul, did you even know what that was, and were you so
confused at that moment, trying to figure out what is this?
At that point, the information we had been given was "pray that
it's not malignant infantile osteopetrosis" so we knew that
the diagnosis was not a good one.
We knew that there were two courses of action.
They basically told us you can take Ryan home and live through
the inevitable, or you could put him through a bone marrow
transplant.
And let's talk about that bone marrow transplant, because I
know it wasn't easy.
He was a fighter.
He went through the bone marrow transplant and he spent a month
in the ICU at Boston Children's Hospital, fighting for his life
every day, and we were told many times that this is it, and then
he'd fight and he'd come around again.
He was known as the miracle baby in the hospital.
Did he ever get out of the hospital, Paul?
Ultimately, yes.
We had the second best Christmas gift ever, when we were able to
take him home on Christmas Eve.
It was an awesome Christmas morning when we
were able to be able to pick him up out of a crib in our
own living room, as opposed to out of a hospital bed.
And what happened after Christmas?
Because of the bone marrow transplant, your immune system
is wiped out, so he wound up getting an infection.
We spent several days in our local hospital, and then he got
a little stronger again, and then he got another infection
which ultimately wound up taking his life.
I can't imagine your pain.
How did you survive that?
I think, really, we leaned on our faith, largest.
And each other, and had to accept a new normal.
Doctor, let me bring you in.
What is this disease?
What did Ryan have?
Ryan has severe malignant osteopetrosis, or SMO.
It's also known as malignant infantile osteopetrosis, or
MIOP.
It's a rare, inherited, bone disease.
We don't, ordinarily, think of bone as being a dynamic tissue,
but it really is.
There are cells that are making bone.
There are cells that are taking bone away, and so that's how
bone is remodeled and we grow and bones assume their normal
shape.
The cells that take bone away are called osteoclasts, and in
this disease, those cells don't work.
You have an imbalance of bone density.
You make bone, but you can't take it away.
The bones become very dense, very hard, and they're easy to
fracture.
One of the most important pieces is that bone marrow cavity,
which is where you make all your blood, isn't created, because
the cells can't do that, and so most of these children run into
problems with not being able to make blood cells, and so most of
the babies die, actually by the time they are 10 or so.
Pretty rare, doctor?
It's a very rare disease, so it's about 1 in 200,000 babies
are born with osteopetrosis every year.
Is it hereditary?
It is.
So, it's a recessive disease, meaning the parents are
carriers, and they would have no way of knowing they're carriers
for the disease.
It's a 1 in 4 chance that any baby born to a couple that are
carriers of osteopetrosis would have a baby with the disease.
Doctor, I want to talk more about the disease, so we'll be
coming back in just a few moments to learn more about his
rare disease, which is so critical to bring awareness to
this morning, so stay with us.
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Welcome back to The Balancing Act.
We're rejoined by a remarkable couple.
Paul and Barbara Wursten, who just shared their story of their
son Ryan, who fought to survive a rare disease, but passed away
at six months old.
Also, joining me again is Dr. Paul Orchard, one of the
foremost experts on this rare disease.
Doctor, let's talk a little bit more about this disease.
Diagnosis must be so important, and getting that diagnosis
quick, as well.
Is it?
Absolutely.
So, Olga, if we have a diagnosis earlier, as a bone marrow
transplant specialist, it helps us be more effective in terms of
getting the transplant done.
It also helps minimize the complications because a number
of these children are affected by the disease in ways that are
irreversible.
So, for instance, overgrowth of the bone can affect the nerves,
and a lot of the children end up being blind very early in life.
Some of them lose their hearing, and those things, even if
transplant works well, you don't get those things back.
And once you do that, doctor, is there treatment available today
that can help delay the disease progression?
Well, Olga, the definitive therapy is still bone marrow
transplantation.
However, there is a drug that is FDA approved to delay the time
to disease progression in patients with severe malignant
osteopetrosis.
It's called interferon gamma 1B, or Actimmune.
So, it may be that the use of interferon, in association with
bone marrow transplant is going to make therapy more effective.
It really hasn't been studied at this point, and it's something
we're very interested in doing.
What about side effects?
Well, the patients that are older and can describe what
they're experiencing, describe flu-like symptoms?
So, sometimes there's fevers, muscle aches, those types of
things.
Patients that have neurologic problems, cardiac problems, may
have difficulties with the drug as well.
In the babies, we follow liver function tests to make sure
there aren't any issues there.
Barbara, I want to bring you back in.
I know he fought, so hard, and I know you continue to remember
him every day through a wonderful foundation that you
started.
Can you talk to us about that, and share, maybe how that has
helped you get through this?
We've started the Ryan Wursten MIOP Foundation in Ryan's
memory, and it is a way for us to fight to keep his memory
alive.
We have partnered with Dr. Orchard, as well as helping some
families who need some financial assistance while they're going
through the bone marrow transplant process.
I also want to share with our viewers, another joy that you
have in your life, you adopted an 8-month-old baby.
His name is Alex.
How old is Alex today?
He is seven years old.
He is a wonderful, amazing child.
He's from Kazakhstan, and we just love him to pieces.
He's a thrill ride at heart, and he loves his big brother and
loves to talk about him and help with fundraisers.
You do talk about Ryan?
We do.
We sure do, and he talks about him daily, about his big
brother, and that he can't wait to meet him again.
Thank you so much for sharing your story.
God bless you, and Alex.
Doctor, thank you so much for bringing this to our awareness
this morning.
We do appreciate your time.
Absolutely.
You can log onto CureMIOP.org or CompassForPatients.com or
Actimmune.com and of course, TheBalancingAct.com for more
information on today's segment.