A Medical Odyssey

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 C-section.

"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? What's that?"

'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 it.

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 Me."

*Source: National Gaucher Foundation. For more information call 1-800-428-2437, or e-mail them at

www.gaucherdisease.org