Our Mysterious Disease

Harold Goldstein

Our second daughter, Callie, seemed to be headed for the "helping professions." One of her earliest jobs was in an experiment to see if infants given a lot of attention do better than those neglected, .and Callie spent many hours in the homes of poor Mexican-American families, entertaining infants in their cribs I never found out how the experiment came out, but I'm willing to bet good money that the infants Callie entertained became brain surgeons.

After graduating from Bennington College, Callie worked for a while in a half-way house for teen-agers who had been hospitalized for emotional problems. Then she worked for a New York State Assembly Select Committee on Child Abuse, on a pioneering study of children of women drug addicts who suffered the after-effects of the drugs that had been in their mothers' blood during pregnancy. Callie interviewed many mothers as well as the director of Odyssey House, an institution for the mothers and children. The Committee report is signed by Callie and the Director of the staff, who put Callie's name first as a gracious acknowledgment of her contribution..

She applied to Smith College for admission to their graduate school of social work, meanwhile working in a New York City hospital as coordinator of Gray Ladies, volunteers who assisted patients with their personal problems.

She called us one evening and said that she had experienced a severe pain in her abdomen, had gone to the hospital employees' health room where they couldn't diagnose her problem and had suggested that she check into the hospital overnight for observation. She had been in good health, and had no idea why she had this pain. And then we talked about her plans for coming home the next week for Christmas, which was a few days off.

Later, in the middle of that night, a doctor in the hospital called to say that Callie had suffered a cardiac arrest, and had died. Could someone identify her body at the Medical Examiner's office the next day?

The rest of the night we spent asking each other and the Universe, Why? How? The next day I flew up to New York. In the Medical Examiner's office I was taken into a room, a door in the wall opened, and, behind a glass partition was lying our child, her new short haircut tousled, her eyes closed. Yes, I could identify her. I could get no explanation from the doctors; they said, let's see what the autopsy shows. New York law required an autopsy in any case of death within 24 hours after entering a hospital. (In an ironic coincidence, the Medical Examiner of the City of New York happened to be the husband of the director of Odyssey House, whom Callie had interviewed for the study of children born to addicted mothers.).

When we got the autopsy report, some weeks later there was no clear cause of death, except for the cardiac arrest--but why a cardiac arrest? Among the things they noted was a break in an artery in her abdomen, the mesentery artery.

At the suggestion and with the help of a friend, Helen Ringe, a wise elderly woman, we put together a little book about Callie, with memoirs written by her friends, her sister, children at a camp where she had been a counselor, and with photographs. It kept us busy and gave us a way to mourn her. We said in the book that we didn't know why she had died.

It was the senselessness that was most painful. Here was a lovely, loving young woman, with so much promise. She had the world ahead of her. Why?

Some years later we got our answer. Sara was in a hospital in Washington for some matter that I can't even remember, and one of the doctors, a hematologist, noticed that she had some symptoms that interested her--bruises on her body and a dry, "cigarette-paper" skin around her knees. Sara had always bruised easily, and we had thought nothing of it. The doctor checked a few other symptoms, including unusual flexibility of the finger and wrist joints, and told Sara that she had a rare heritable condition called "Ehlers-Danlos syndrome" after the two physicians who had first published descriptions of it early in the century. The doctor asked Sara's permission to have her photographed, bruises and all, for the education of medical students, and also offered to examine our daughter Marni and her two children the next time they came on a visit to Washington, to see if they had the same condition. When they came, she examined them and reported that Marni and her youngest son, Matt, both had Ehlers-Danlos syndrome (EDS).

EDS is caused by a defect of the collagen that makes up the body's connective tissues; it is really a group of about six syndromes, each separately heritable. In one of the six, called "vascular type EDS", the weakness extends to the walls of the blood vessels, and arteries are liable to balloon at weak spots (this is called an aneurysm) and eventually rupture, often with fatal consequences. The rupture may occur at any time in the life cycle, from adolescence on. It is not clear what, if anything, precipitates an aneurysm and rupture. The vascular type is the only potentially fatal type of EDS. Our hematologist ventured a guess that here was what we had been searching for: the cause of Callie's death: her mesentery artery had ruptured.

A nice thing to find out. And Sara, Marni, and Matt were at risk. What do you do to avoid the risk? Nothing. There is no treatment, no medication, no prevention. You wait for a rupture to happen.

We found one way to precipitate a break in an artery. One day I took Sara and a friend out in a sailboat on a day no one should have gone out in a sailboat--a day of strong winds. It was one of the stupidest things I ever did in my life, and I have a pretty outrageous record in this department. It was rough going, I struggled to keep us from being turned over. When we finally pulled in to the dock, Sara reported that she had suddenly developed a severe headache. On our way home we stopped off at our doctor's office, and he thought--and this was later confirmed--that an artery in her head had sprung a leak and was leaking into a vein--this is called a fistula. I have to assume it was from the stress of that wild sailboat ride.

. It was the left carotid artery, which goes up on the left side of her neck and carries blood to the brain. The brain is well-served with blood: in addition to the two carotid arteries there's another artery coming up the back of the neck, and all three connect to an artery that circles around in the brain. As each carotid artery goes through the skull it passes through a sinus called the cavernous sinus, one on each side of the skull. The optic nerves also pass through this sinus. And here is where the break in the artery had taken place.

It was essential that it be fixed. The carotid could be tied up as it went through the neck below the break, but it also had to be tied up above the break, because of the possibility of reverse flow of blood from that artery that circled the brain, and this required going into the skull above the break, into the cavernous sinus. We found a surgeon at Walter Reed, the Army hospital, who had experience in repairing wounds in that area. He warned us that the surgery was risky, but we had no choice.

The surgery was successful. Just one little problem: working inside the cavernous sinus, he had nicked the optic nerve, and Sara lost sight in her left eye. This did not keep her from working, driving her VW Beetle, and living fully for years afterward. She had no more arterial ruptures, and when she died, at age 70, it was from an unrelated cause--arrythmia, a heart ailment that nowadays would be corrected by installing a pacemaker.

Marni was not so lucky. Like Callie, she was pursuing life actively. with her two children growing up, she had gone to Columbia University, to get a doctorate in sociology, commuting from Middletown, CT to New York and some of the time living part of each week in New York, and was working on her thesis while doing market research for the Travelers' Insurance Company in Hartford. (I'll never forget visiting the company offices to meet her on a visit to the family, and being guided through the large building by a company security man to find her office: when he seemed unsure where to look, I whistled the family whistle call and a beautiful young woman in an elegant suit popped out of an office to greet her father, who was bursting with pride at the sight of her.)

At age 41 she developed a sudden severe pain in her lower back. At first they thought it might be a kidney stone or other kidney ailment, but emergency exploratory surgery showed a break in the renal artery, which supplies blood to the kidneys. In the course of the surgery they had managed to create a kink in her intestines, which caused infection. After about ten days in the hospital, she underwent more surgery to correct the intestinal condition, and died in the recovery room. It was her 41st birthday, and she had never had time to open her presents. (As a sad corollary, the surgeon suffered a heart attack that night and also died.)

Matt, in his early 30's, was found by a CAT-scan to have developed an aneurysm in an abdominal artery. Tying up arteries that have developed aneurysms is risky in an EDS patient because of the fragility of the arteries. Matt found a neurological surgeon experienced in working within the narrow arteries in the brain, using very small catheters less apt to damage the artery walls, and he succeeded in tying up Matt's aneurysm. (The surgeon's first name was Alejandro: it is entirely possible that he was one of the infants that Callie entertained in their cribs and who later became brain surgeons.) Since then Matt gets CAT-scans at regular intervals to spot aneurysms early.

I found out that there is an Ehlers-Danlos National Foundation, to help patients with the disorder, and encourage research and education. It had been founded in the 1980's by a young woman named Nancy Hanna, herself a patient with EDS. I joined, and worked as a volunteer for EDNF for for about 15 years, acting as a member of the Board of Directors, Treasurer, organizer of local branches, and Washington lobbyist. I attended many meetings and national conferences, and met many patients with the disorder--some of them heroic in their stoicism and dedication to the organization. It was an experience that added a whole new dimension to my life and introduced me to the worlds of medical politics and medical research. But in the end I was unable to protect my family. Maybe Callie's way was best: educate children so they can do something good for humanity.