| Canavan Disease, Dental Care And A Parent's Way Of Attending To Her Child* |
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Years ago when I was starting as a Developmental Neuropsychologist, a mother of a patient taught me one of the most important lessons of my over 30-year career. _option_option_option_option
I was asked to do a neuropsychological assessment of a three-year-old little girl, who I'll call Sarah, who had been diagnosed as having Trisomy 8. Trisomy is the genetic condition of having one or more sets of three chromosomes instead of the usual two chromosomes - in this case with chromosome 8. Children with this condition frequently have retarded psychomotor development, long and narrow trunk, dysmorphic faces with blank expression, musculoskeletal defects, eye anomalies, and visceral and other abnormalities. She had received the diagnosis from many physicians. One of the questions I always ask parents and the patients, themselves is: "How do you think I can help you?" The answer I receive is not usually what one would think. In this case Mrs. M. said: "Is the Trisomy 8 in her hair?" I was silent a moment as I tried to understand what she was saying. Of course It was in Sarah's hair, It was "in" all of her, It was a chromosomal fact. But that, I felt, was not the real question she was asking. She and Sarah had been to doctors, geneticists, and physical therapists to name just a few professional consultations. Mrs. M.'s question reverberated in me. What I "heard" was: "Can you please tell me a place where I can touch my daughter that is free of this horrible 'disease'?" And so, I said it wasn't in Sarah's hair, and not only that, but she had the most beautifully long eyelashes I had seen in a long time. Now, those words I said were not true, but what she heard and what I wanted desperately for her to hear was: "Yes, Sarah has a serious condition, but she needs your acceptance, attention and above all, your love; and you can show her this by taking care of her hair. There may be many things in her life that she may not accomplish, but being well kempt and enjoying the glory of her hair is something both of you can share together." I received a phone call from Dr. Ari (as he is known to his patients) Kupietzky, a well respected Jerusalem Pediatric Dentist and Fellow of the American Academy of Pediatric Dentistry, Diplomate of American Board of Pediatric Dentistry, an Associate Professor of New Jersey Medical Dental School and Editor of American Journal of Pediatric Dentistry. He related a "finding" that he felt would benefit from further psychological analysis; he told me of a number of children he was seeing with a congenital and eventually fatal developmental disability and marveled at the parents' diligence in bringing their children to the dentist's office. This act of consistant regular dental care was unique to parents of children with this difficult syndrome, Canavan Disease, where he didn't have to send them "reminders" of follow-up care; they came regularly at their own insistence, as it were. He was doing research on other aspects of the disease with Dr. Alex Tanenbaum, director of the Jerusalem Child Developmental Center, and added that they would like my professional input. I immediately thought of Mrs. M. and little Sarah. Canavan Disease (CD), is one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. The disorder was named for Myrtelle Canavan, the researcher who first described the disease in 1931. CD is a progressive neurodegenerative disease that occurs predominantly but not exclusively in Ashkenazi Jews. It is characterized by a normal birth, rapidly followed by signs of lack of interest, hypotonia, and megalencephaly, resulting in early death. Genetic studies suggest that among Ashkenazi Jews, the carrier frequency is between 1/35 and 1/59. Dentists aware of CD can assist in the treatment of infants and children afflicted with this disorder. Early dental treatment may support parents and siblings in caring for the child with CD and help create good family dynamics. Affected children may have rapidly increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness. They may also have mental retardation, feeding difficulties and loss of previously acquired motor skills. Paralysis, blindness, or hearing loss may also occur. Children with CD are characteristically quiet and apathetic. As the child grows, motor skills and mental functioning deteriorate, although many affected children continue to recognize and respond to the voices of their primary caregivers. Although many children with CD die in infancy, some survive into adolescence and even occasionally into adulthood. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The prognosis for those with CD is poor. Death often occurs before age four, although some children may survive into their teens and 20s. Although Canavan Disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania and western Russia, and among Saudi Arabians. To date there is no cure. And so, when Dr. Kupietzky approached me I asked: "In what way do you think I can be of help you in your research?" Both he and Dr. Tanenbaum were both touched and fascinated by the parents, but specifically the mothers, of their patients with CD. Not withstanding the difficulty of day-to-day life, and especially traveling with an older disabled child on public transportation, these mothers brought their CD children in for regular dental care. I researched Canavan Disease and came up with a thought. The disease only began to appear four months after birth. During those four months the mother's and their children had "bonding time" time to connect with one another in health, nurturing and normal physical contact. Wouldn't it be possible that this time was preserved as the best time of both their lives together, a time when both mother and child were joined in the most normal of activities nurturing in the most basic sense? Both were "doing their jobs to the fullest" and for the mom, mothering a normal child. Caring for the child's mouth and dental care, specifically, re-connected them to that happier and carefree "normal" time. The article, that we wrote together" Canavan Disease - An Expanded Role For Dentists", was published in The Journal of Special Care in Dentistry. The journal editors felt that it was important for the international community of dentists to be aware of multiple purposes of oral care we spoke about. Dental care for children with CD can be performed on many levels. To me though, the lesson is the one taught to me by Sarah and her mom, Mrs. M. Even though one may be unable to cure a child, parents should be encouraged rather than dissuaded from providing what may be thought of as a "luxury", but what is to them perceived as the most "normal" care possible. Originally published in the Jewish Press on July 4, 2007. |
