Daniel's Gift E-Zine For Families of Children with Special Needs |
When your children cry, do they have tears? by Sondra Mallow On October 12, 2000 my world changed forever. After a long search my husband Edward and I would finally know what is wrong with our children. Our beautiful children, son Jordan age 8 and our twin girls, Samantha and Maxine age 7, were all diagnosed with a rare genetic disease, Familial Dysautonomia, also called "Riley-Day Syndrome". All my children had been sick with chronic pneumonia from birth to about age 4 ½. They would get so sick, but doctors could not hear the congestion. They would get high fevers and have febrile seizures. They were all developmentally delayed, speech and language delayed, and gross and fine motor delayed. They were diagnosed with epilepsy some 2 years ago. They have asthma. They were all diagnosed with attention deficit disorder. They seem to eat very well, but stay small and thin. Something seems wrong with their digestion. For almost eight years my husband and I have searched. We have been to countless doctors and hospitals, seeking answers. Some were helpful and just admitted they did not know. Others felt we should just stop looking. A very dear friend introduced us to another doctor and like magic our lives changed. I was told to call Dr. Felicia Axelrod at New York University Hospital. Dr. Axelrod asked me, "When your children cry, do they have tears?" My heart sank, I asked my husband to confirm. "NO", my children do not have tears. Dr. Axelrod continued to ask me questions about the children's birth and early years and all the pieces began to fit. My children had feeding problems. They often choked and sputtered on their bottles. They had syncope (fainting). My children do not feel pain like you and I. They do not feel the sensation of heat, until it is too late and they are burned. They do not feel the cold. My son cannot control his body temperature when playing outside even on a cool day. He might overheat and faint on the ground. My girls get bright red in the face and very hot. My children's eyes do not shed a tear. Information On Familial Dysautonomia Familial Dysautonomia (FD) is a genetic disease, which is present from birth. Fifty percent (50%) of those children alive today, will not live until they are 30 years old. The genetic defect results in incomplete development of the nervous system causing a decreased number of nerve cells. The nerve cells which are affected are those destined to control certain sensations and autonomic functions. The sensory nerve cells which are most severely affected are those responsible for pain, heat perception, and taste. Autonomic nerve cells control bodily functions such as sweating, swallowing, regulation of blood pressure, and body temperature, and the ability to cry with tears. All children with FD have the same basic problem incomplete development of the nerve cells. Some children also have what are considered secondary problems such as feeding problems, vomiting, poor growth, spinal curvature and lung problems. As with other genetic diseases, the degree to which a particular child is affected will vary even within the same family. The child may have none or only some of the secondary problems. FD is a recessive genetic disease, which means that both parents carry the gene despite a lack of outward signs. The affected child has received a double dose of FD recessive genes, one from the mother and one from the father. The recessive gene causing FD occurs with a remarkably high carrier frequency in individuals of Eastern European Jewish ancestry (Ashkenazi Jewish extraction.) It is estimated that one in 30 individual's with Eastern European Jewish ancestry is a carrier of the FD gene. The disease may occur in more than one child in a family. There is a 25% chance with each pregnancy that the FD genes will pair and produce FD in the child. In 1993 the FD gene was mapped to chromosome 9 with sufficient DNA markers to permit prenatal diagnosis and carrier identification for families in which there has been an affected individual. In families with an affected child, it can be determined if an unborn child in a future pregnancy is affected and if the other children in the family are carriers of the FD gene. |
When your children cry, do they have tears? by Sondra Mallow On October 12, 2000 my world changed forever. After a long search my husband Edward and I would finally know what is wrong with our children. Our beautiful children, son Jordan age 8 and our twin girls, Samantha and Maxine age 7, were all diagnosed with a rare genetic disease, Familial Dysautonomia, also called "Riley-Day Syndrome". All my children had been sick with chronic pneumonia from birth to about age 4 ½. They would get so sick, but doctors could not hear the congestion. They would get high fevers and have febrile seizures. They were all developmentally delayed, speech and language delayed, and gross and fine motor delayed. They were diagnosed with epilepsy some 2 years ago. They have asthma. They were all diagnosed with attention deficit disorder. They seem to eat very well, but stay small and thin. Something seems wrong with their digestion. For almost eight years my husband and I have searched. We have been to countless doctors and hospitals, seeking answers. Some were helpful and just admitted they did not know. Others felt we should just stop looking. A very dear friend introduced us to another doctor and like magic our lives changed. I was told to call Dr. Felicia Axelrod at New York University Hospital. Dr. Axelrod asked me, "When your children cry, do they have tears?" My heart sank, I asked my husband to confirm. "NO", my children do not have tears. Dr. Axelrod continued to ask me questions about the children's birth and early years and all the pieces began to fit. My children had feeding problems. They often choked and sputtered on their bottles. They had syncope (fainting). My children do not feel pain like you and I. They do not feel the sensation of heat, until it is too late and they are burned. They do not feel the cold. My son cannot control his body temperature when playing outside even on a cool day. He might overheat and faint on the ground. My girls get bright red in the face and very hot. My children's eyes do not shed a tear. Information On Familial Dysautonomia Familial Dysautonomia (FD) is a genetic disease, which is present from birth. Fifty percent (50%) of those children alive today, will not live until they are 30 years old. The genetic defect results in incomplete development of the nervous system causing a decreased number of nerve cells. The nerve cells which are affected are those destined to control certain sensations and autonomic functions. The sensory nerve cells which are most severely affected are those responsible for pain, heat perception, and taste. Autonomic nerve cells control bodily functions such as sweating, swallowing, regulation of blood pressure, and body temperature, and the ability to cry with tears. All children with FD have the same basic problem incomplete development of the nerve cells. Some children also have what are considered secondary problems such as feeding problems, vomiting, poor growth, spinal curvature and lung problems. As with other genetic diseases, the degree to which a particular child is affected will vary even within the same family. The child may have none or only some of the secondary problems. FD is a recessive genetic disease, which means that both parents carry the gene despite a lack of outward signs. The affected child has received a double dose of FD recessive genes, one from the mother and one from the father. The recessive gene causing FD occurs with a remarkably high carrier frequency in individuals of Eastern European Jewish ancestry (Ashkenazi Jewish extraction.) It is estimated that one in 30 individual's with Eastern European Jewish ancestry is a carrier of the FD gene. The disease may occur in more than one child in a family. There is a 25% chance with each pregnancy that the FD genes will pair and produce FD in the child. In 1993 the FD gene was mapped to chromosome 9 with sufficient DNA markers to permit prenatal diagnosis and carrier identification for families in which there has been an affected individual. In families with an affected child, it can be determined if an unborn child in a future pregnancy is affected and if the other children in the family are carriers of the FD gene. |
Daniel's Gift E-Zine For Families of Children with Special Needs |
left to right: Maxine, Samantha and Jordan Mallow |
