A Medical Odyssey
When our son Tom told us that he and his wife, Donna, were expecting
a baby, our first grandchild, we were surprised and overjoyed.
She had said before they were married that she didn't think she
wanted children, then she added kiddingly, "Well, I guess when
my biological clock starts to run down a bit I might change my
mind." When she was thirty-one, perhaps listening to the tick-tock
of that clock, she did indeed change her mind, and everyone was
In the beginning, Donna had an ideal pregnancy---no morning sickness,
lots of energy, and low weight gain. She went into labor on schedule
and when her contractions were coming five minutes apart, she went
to the hospital where a routine blood test revealed that her blood
platelet count had dropped suddenly and alarmingly to 40,000 from
her usual count of 200,000, and an examination showed that she
wasn't dilating. Because the platelet count is an important factor
for proper blood clotting, her doctor felt it was dangerous to
give her an epidural to let labor continue for another 24-36 hours
for a normal delivery. Instead, he decided to do an emergency C-section,
with set-ups for blood and platelet transfusions and a hematologist
standing by. Even with those precautions she had to sign a paper
permitting them to do a hysterectomy if her uterus wouldn't clot. "I
think at that point they thought I had leukemia."
The C-section went smoothly and on May 9, 1993 they had a daughter,
naming her Hayley. Donna felt great---tired, but happy, and Tom
couldn't stop smiling. She stayed in the hospital for four days,
but before she went home the hematologist strongly advised her
to see him about her platelet count as soon as all the swelling
went down. Donna assured him she would.
Hayley was not an easy baby. She was collicky, and there was difficulty
finding a formula that agreed with her. She was sleeping erratically
and as the weeks went by Donna couldn't get her on a schedule.
As a result Donna was not sleeping well.
"I figured fatigue was part of being a new mom," Donna said, "and
I thought my platelet problem was pregnancy related. The fatigue
started to get worse, and I got to thinking if I'm not getting
enough rest how am I going to take care of Hayley?"
Donna finally telephoned her doctor when Hayley was seven months
old. She told him she wasn't sleeping well and asked for help.
He prescribed a muscle-relaxant but it didn't help. Then he prescribed
an anti-depressant, which had disastrous side effects, sending
her into bouts of hysterical crying. Donna was now unable to cope,
and the fatigue was wearing her down.
However, unwilling to use sleeping pills, she kept plugging away,
somehow managing whatever sleep she could. Finally, the time came
for a check-up with her ob-gyn. She told him about her sleeping
problems and that she was feeling depressed, whereupon, in the
middle of the consultation, she started crying. He comforted her
and told her what she was experiencing was common following childbirth,
so he sent her to a doctor who specialized in post-partum problems.
This doctor said he didn't think Donna was depressed. He told her
that before he saw her again, he had to know what went wrong physically
with Donna's labor and why she had to have that kind of emergency
"I had a growing suspicion that there was something wrong with
me," Donna said. "and I had to find out what it was, so I went
to the hematologist. He examined me, said he could feel my spleen
which was quite enlarged and wanted to know if I was experiencing
anything unusual. I told him my gums were bleeding, I bruised easily,
had pain in my shoulder and hip, and suffered from extreme fatigue.
He said I needed an ultra-sound and sent me to a radiologist. I
wanted to scream 'Not another doctor!' I was getting fed up with
all these experts who weren't helping, but I went. After the scan,
that doctor said, 'Your liver is enlarged and your spleen is very
enlarged---and you also have gall stones.' I said, 'Do you have
any good news?' and he said, 'Well, you're not pregnant.'"
The doctor sent the report to the hematologist who reviewed the
ultrasound and told Donna that her spleen looked like it had been
in an accident. Donna asked him how it got that way and why her
liver was enlarged. He replied that he didn't know, and told her
he wanted her to have a CAT-scan. Yet another consultation. After
he had the results he called her saying, "Well, you'll be happy
to know it's not lymphoma."
Donna didn't even know he was looking for lymphoma, but was glad
to hear something good. Then he said he wanted to do a bone marrow
aspiration, warning her that it would be extremely painful for
about five seconds but then it would be over.
"It wasn't as painful as I thought it would be," she said, "it
only seemed to last two seconds---but after it was over I went
home and started crying hysterically. I knew as soon as he said
the words 'bone marrow aspiration' that there was something really
wrong with me. From having to take that test I just knew the results
were going to come out bad.
"A week later I called for the results. While I'm waiting to speak
with the doctor I'm thinking, ohmigod, there's something the matter
with me. Finally the doctor got on the phone and said, 'Well, we
found something', like he was so thrilled he finally found something
wrong---hooray for him. He said, 'You have Gaucher's (go-SHAY's)
disease. I need you and your husband to come into my office tomorrow.'"
Donna said, "My world started to spin. I said 'Gaucher's disease?
'It's an inherited genetic disease,' he said. 'It's not curable,
but it's treatable, and it's fatal without it. The drug for it
has been in use for two years and it's been very successful.'
'Is it a pill?'
'No, it's an infusion,' he said.
"I was in a daze, but I calmed down and thought, Okay, I can deal
with this, at least there's something available for me. I called
Tom at the office. He was quiet for a moment, then said, 'well,
at least there's help, finally.' I called my Mother, called my
sisters, and they're all saying, 'Gaucher's disease, I never heard
of such a thing.' All I could tell them was that I would have more
information tomorrow after we saw the doctor, but it looked like
it's something we could handle.
"So the next morning Tom and I go into his office and sit down.
There's this packet on his desk, about an inch thick, and he hands
it to me and says, 'Here, this is what you've got. Read it tonight
and bring the packet back to me tomorrow.'"
Donna said, "I decided right then he wasn't going to be my doctor."
Gaucher's is a recessive inherited genetic disorder first discovered
in 1882 by a French physician named Philippe Charles Ernest Gaucher.
It is most prevalent in the Ashkenazi Jewish population, although
it has appeared in other ethnic groups. Those suffering from Gaucher's
lack sufficient amounts of an important enzyme crucial to the process
of breaking down worn out body cells into glucose and a fat called
ceramide. Instead, without this enzyme, these old cells remain
stored in the body and can attack the liver, spleen, and will cause
bone deterioration. Symptoms of the disease vary from very mild
to severe; they include bleeding gums, bruising easily, fatigue,
enlargement of the liver and spleen, and pain in the hip and joints.
If not treated, the disease can progress to the point where it
will ultimately destroy the body. The present treatment for it
is intravenous infusions of a drug called Cerezyme, which is a
modified form of the missing enzyme.*
For the disease to pass to children, both parents must carry the
gene, and with each pregnancy there is a 50% chance the child will
inherit one Gaucher gene from one parent and only be a carrier,
or will have a 25% risk of getting both genes and actually having
the disease. A child with only one parent who is a carrier will
inherit the gene, but will not have the disease.*
After she was diagnosed, Donna began an almost obsessive pursuit
of finding the care she needed. She knew she had to start by locating
a new hematologist experienced in the treatment of Gaucher's. She
remembered that in the packet the hematologist had given her, she
read the name of the drug company who manufactures the treatment,
so she called them to ask for referrals to doctors in her area.
They gave her the names and phone numbers of two---one in New York
City and one in Philadelphia. They also suggested she call the
National Institutes of Health in Washington, D.C, to find out if
they were still doing studies on Gaucher's; if they were, she might
be able to participate, entitling her to a reduction in the cost
of the medication. She called them, but the NIH said they had stopped
those studies because a treatment had been found, and they were
no longer being funded for Gaucher's. Then she called the doctor
in New York, and was told there was a two-month wait for an appointment.
"I knew I couldn't wait that long," she said, "so I called Dr.
Paige Kaplan's office in Philly. I told them I had been diagnosed
with Gaucher's and would like an appointment with Dr. Kaplan. They
said to come tomorrow and to bring my parents for genetic testing.
I was so relieved to hear their caring response I almost started
crying. The three of us drove down the next day.
"Dr. Kaplan was wonderful. She was extremely knowledgeable and
thorough; she showed us graphs and charts of chromosomes, explaining
how the disease is transmitted. My parents are both of Ashkenazi
ancestry and their tests showed they were both carriers of the
gene. Then Dr. Kaplan urged that my two sisters be tested, and
Tom too, even though he's not Jewish.
"She filled me in on everything I needed to know. She made me
feel comfortable and assured me that she would work with the drug
company regarding scheduling of treatments. She estimated that
I would be up and running on the infusions in one to two months."
Donna was quiet for a moment, then said, "On the way home we hardly
talked at all. It was just very depressing.you know.I think the
whole idea of knowing that you're going to be sick the rest of
your life.treatable, but.well.this is reality."
She stopped to fix us some coffee and Tom joined us. "Tom has
been just wonderful throughout all this hubbub. So caring, and
giving me the support and stability I needed."
Donna's sisters were tested. Her older sister was found to be
a carrier, but does not have the disease. The younger one has the
disease, but only in a mild form; she has no symptoms and in her
case the disease may never go beyond the present stage.
In less than a month Dr. Kaplan called Donna with the news that
the treatments were to start in two weeks, and would consist of
bi-weekly intravenous infusions of Cerezyme.
Every other Monday the drug company calls, alerting her that they
will ship the medication that day. UPS delivers it the next morning,
frozen, packed in ice. Donna thaws it overnight in the refrigerator,
and the next day a nurse comes to the house to administer the infusion.
The medication is in powder form and must be diluted in a saline
solution to a very specific percentage; the nurse mixes it when
she arrives, then pours it into vials. The number of vials prescribed
and the amount in each vial is determined by the patient's body
weight, and it must be used right away. The infusion takes one
to one-and-a half hours to complete, and this procedure will probably
continue for the rest of her life, or until a cure is found.
Donna has been on the treatment ten years, and the results have
been extraordinary. When diagnosed with Gaucher's, her liver was
one and a half times its normal size, her spleen six times normalcy,
and she had pain in her hip and shoulders where there was bone
deterioration; all that in addition to the low platelet count,
bleeding gums, easy bruising and fatigue. Now her liver is almost
back to normal and the spleen is reduced to twice the normal size.
The doctor told her that is probably the best they will ever be.
The National Gaucher Foundation estimates that over 30,000 people
in the United States have this disease. The blood test for it is
now being given routinely by many doctors, and trials have begun
with a gene replacement therapy, using technology developed for
other diseases. If these trials are successful they will give the
Gaucher patient the ability to produce the missing enzyme not produced
by the defective gene.*
"After I started on the program," Donna explained, "the relief
was almost instantaneous, particularly the hip and shoulder pain.
My gums don't bleed now, I hardly ever bruise, and my energy level
is high. When I left the hospital after Hayley was born, my platelet
count was 80,000; after three months of treatment it had shot up
to 250,000, so they reduced my dosage from fourteen vials to seven.
I've been at that level ever since.
"Once a year I go to Philly to see Dr. Kaplan for a check-up.
They give me a contrast CAT-scan to measure the size of the liver
and spleen, which has remained steady, then I have an MRI done
on my shoulders and hips. When they compare these results with
the previous year's, they can see that I have started manufacturing
bone in my right hip."
"I'm so proud of the way she's handled this whole mess," Tom said,
starting to laugh. "Once she starts on something---anything---she
keeps at it until it's beaten into the ground."
Under consideration is the possibility that treatments could be
reduced to one a month in patients who have maintained improvement
and are making new bone.
Donna will give you the latest news about her situation if you
ask her, but otherwise it never comes up in conversation. I have
the greatest respect and admiration for the way she has handled
herself through this whole process. She was very strong, with no
self-pity. There was never any hand wringing or "poor me" attitude.
The infusions are a part of her routine---just something else that
has to be done. As she says, "It is what it is" and she accepts
Tom and Donna have added a son to their family. Both their children
have the Gaucher gene, but will never get the disease because tests
showed that Tom is not a carrier. Donna continues to do well---she
looks and feels terrific. If you met her you would say, "Donna?
sick? You're kidding."
Gloria Cromwell Reina is an actress who has had extensive work
in theatre, films, and TV. She has been writing for about three
years and is currently working on a memoir entitled "Mother and
*Source: National Gaucher Foundation. For more information call
1-800-428-2437, or e-mail them at