Background Story
On April 19th 2011 Paul and I took Laura to the ER at GBMC
because we noticed her losing her balance and falling on occasion. We knew something had to be terribly
wrong. She had a brain MRI which showed
a demyelinating disease but it wasn't clear what it was. She was admitted to the hospital and had
multiple tests. She was discharged on
April 21st and referred to a neurologist at Hopkins.
On April 22nd she saw the neurologist who did a thorough
neuro exam. After looking at her brain
MRI he told me that this wasn't a new process but something that had been
occurring over a long period of time.
In May Laura had a spine MRI, nerve conduction tests, a
muscle test, and a eye scan. Some of her
blood work results had come back and showed her Arylsulfatase A level was
low. This is an enzyme that prevents
sulfatides from building up in the body which destroy the myelin sheath. The myelin sheath acts as insulation to
protect the nerves. Her neurologist told
us he suspects a disease called Metachromatic Leukodystrophy or MLD for
short. This is a genetic disease which
means that Paul and I are both carriers for a disease we never knew
existed!
In the beginning of June Paul and I found out that there was
a conference on this very rare disease in Hunt Valley on the weekend of June
10th! We decided to go, not knowing for
sure if we really belonged there or not.
We listened to experts in the field and met parents of children affected
by this disease and their children. We
both felt like we were supposed to be there.
Repeatedly we had some of the local labs in the area run
tests, and we can count on at least 5 occasions where the samples were either
lost in transit , spoiled due to waiting too long, or with results inconclusive
(for one reason or the other). We
decided to take matters into our own hands in spite of “outside of insurance
guidelines”. On June 23rd
Darlene, who happens to be a nurse, took Laura’s specimen and drove it to a
specialty lab in Philadelphia to be processed by one of the doctors we heard
speak at the conference. On June 24th the doctor called us and told us that she
had sulfatides in her specimen and this confirmed her diagnosis of MLD. The only treatment for this disease is a Bone
Marrow Transplant.
Our neurologist at Hopkins had been in regular consult with
members off the team at Kennedy Krieger Institute. Further, some from this team attended a
national conference on this rare genetic disease and Laura had given them
permission to discuss her case. It was concluded the Laura would make an
excellent candidate for a bone marrow transplant. After much thought and prayer we decided to
move ahead and met with doctors at Hopkins from the Bone Marrow Transplant
team. Both Tim and Emily told Laura that
they would gladly donate their bone marrow!
After the decision it seemed everything moved fairly
quickly. We were told the process of
finding a donor could take up to 6 months and that once a suitable donor was
found we would have to move very quickly.
Tim and Emily were tested to see if they would be suitable match.
Darlene and I are carriers of this disease and therefore the
probabilities of our children being affected are: 25% not a carrier, 50% a carrier but not affected,
25% affected. In August, we found out
that Emily was not a carrier a perfect 10 out of 10 tissue match! Praise God! (Hopkins said that this was
extremely rare).
On August 26th Laura
had a hickman catheter inserted in her chest and was admitted to the hospital
for a 3 day stay for her first round of chemo.
On September 8th Laura was admitted for her bone marrow transplant and
had 7 days of chemo. On the morning of
September 16th Emily donated her precious bone marrow to Laura and in the
afternoon Laura received her transplant!
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