Dr Judith Guedalia

On Crying And Genetics (Part 2)
          One of the benefits of working in the same place for close to 20 years is receiving "surprise" guests. Not infrequently, people who happen to find themselves at Shaare Zedek Medical Center, and specifically on the 5th floor, pop in to say hello years after our having met professionally. One such guest was an attractively dressed woman in her early 30s. She knocked on the door, and I as I opened it I had a flashback of my first days on the job. I had been asked to see a 13-year-old girl in Pediatrics who was crying softly to herself for, what the nurses felt, was an inordinate amount of time.
         Now, hospitalized children are generally not in the ward for "happy" reasons, so when a pediatric nurse is concerned about a patient crying for an extra long time, I know it is out-of-the-ordinary. What I saw was a young girl - I will call her Malka - with her arms and legs in casts and traction. The first thing that popped into my mind was that this child was in what I could best describe as a "bed made in Sodom."
         The men of Sodom were notorious for (among other horrors) placing a guest on a bed, and if his length exceeded that of the bed they cut off his feet, yet if the man was shorter than the bed, he was stretched (Greek legend of Procrustes). Asked to lie in the bed, Eliezer, our forefather Avraham's devoted servant, replied that at the death of his mother he had vowed never to sleep in a bed (Pir. R. El. xvi.).
         This young girl had inherited the bone growth disorder Achondroplasia (a form of Dwarfism). Specifically the cartilage in her developing body did not form the long bones of her arms and legs. So that her head and trunk grew age appropriately, while her legs and arms did not. All people with this genetic make-up have short stature (the average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). People with achondroplasia are generally of normal intelligence even though there are other physical anomalies of the head. Information can be found on the Johns Hopkins website: http://www.hopkinsmedicine.org/orthopedicsurgery/achondroplasia.htm I will summarize it below:
         Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in one in 15,000 to 40,000 newborns. Mutations in the FGFR3 gene cause achondroplasia. Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia have average-size parents; these cases result from a new mutation in the FGFR3 gene. In the remaining cases, people with achondroplasia have inherited an altered FGFR3 gene from one or two affected parents. Individuals who inherit two altered copies of this gene typically have very severe problems with bone growth, and are usually stillborn or die shortly after birth from respiratory failure. Unfortunately, there is no treatment that can cure this condition. Surgery is sometimes needed to correct specific skeletal deformities. For example, in patients with severe knock-knee or bowed legs, the pediatric orthopedic surgeon can perform an osteotomy in which he or she cuts the bones of the leg and allows them to heal in a more correct anatomical position.
         The "straightening" surgery deals with the "bowing" of the bones and as a result may add a few inches of height to the patient.
         Malka had had this surgery. We spoke a number of times during her hospitalization and I came to understand that her quiet tears were both of pain and hope-against-hope that the "few" inches would be more than a "few," and make a significant difference in her future height. Though I had thought about her over the years - she was released to rehabilitation out of the hospital - that was the last time we met until she saw my name on the door, remembered me, and knocked. I was so pleased to see her as an adult, and commented to her about how well she looked. She beamed and proudly told me that she has a job as a "Front Office" receptionist.
         I would not have recalled the whole incident had I not read about the birth of a baby boy at Shaare Zedek, born Achondroplasia "free". This is the first time ever that a woman with this type of dwarfism delivered a healthy child following diagnosis of the embryo before pregnancy (Pre-Gestational Diagnosis, or PGD).
         The pregnancy was achieved using In-Vitro Fertilization, IVF and followed by PGD, both conducted at the Zohar PGD Unit at Shaare Zedek donated by Rabbi David and Anita Fuld (of Jerusalem and New York). Rabbi Fuld saw a need and tirelessly worked to find a way to allow Shaare Zedek the ability to offer parents with genetic issues a means to overcome the pain of not having healthy children. The methods used are Halachic and accepted by a broad range of gedolim.
         In this particular case, an older sibling had been born with Achondroplasia several years earlier, and genetic testing found that the mother carried the gene. Director of Medical Genetics at Shaare Zedek Ephrat Levy-Lahad says that the expertise of the PGD and IVF staff at the hospital enabled this success.
         When performed via the polar body method, as it is at Shaare Zedek and only a handful of other facilities in the world, PGD has an extremely high degree of accuracy, thus ensuring that an embryo deemed healthy via the procedure will in fact be born as a healthy and non-affected child. The "polar body" refers to a tiny attachment that extends from the egg, which contains all of the relevant genetic material; it can be analyzed without the need to touch the embryo. Since PGD was introduced at Shaare Zedek in 2005, over 35 babies have been born to parents without the genetic diseases carried by the mother, father, or both. A list of over 22 chromosome-identified disorders (Familial Dysautonomia, Cystic Fibrosis, Gaucher, Neurofibromatosis are just a few examples), have been isolated and healthy children have been born to parents who might otherwise have remained childless.   Medicine, as well as everything else in Hashem's Universe, is evolving every minute. Who knows what miracles He will bring, and the "vessels" He chooses by which to deliver these miracles. It is of paramount importance that we not look at children or adults with genetic disorders as the "un-altered" cases. May we be available to the greatness and sure of His wisdom as He guides us all.
         See the Shaare Zedek site (www.szmc.org.il) for more information or contact Jeremy Wimpfheimer, Department of Public Relations, Shaare Zedek Medical Center, 972-2-666-6234This e-mail address is being protected from spambots. You need JavaScript enabled to view it
Originally published in the Jewish Press on October 17, 2007.

Tags: Achondroplasia | Bone Growth Disorder | Bowed Legs | Dwarfism | FGFR3 gene | In-Vitro Fertilization | IVF | Jewish Press | PGD | Polar Body | Pre-gestational diagnosis