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Undiagnosed first child; fearful of having another child

K. C., Hollywood, Florida (July 1998), has a son who was born prematurely with: respiratory distress syndrome; dysmorphic facial features; developmental delay; excessive sweating; high liver enzymes; frequent ear infections; and a high, narrow palate, among other conditions. K.C. is looking for parents with a child who has similar characteristics and received a diagnosis. She would also like to hear from other parents with a child who has special needs and have gone on to have other healthy children.

My 15-year-old daughter also had: respiratory distress syndrome; frequent pneumonia; dysmorphic facial features; developmental delay; speech difficulty; growth delay; hair loss; pointed teeth; limited physical endurance; frequent ear infections; a high, narrow palate; and fetal growth retardation. I have learned that many of these symptoms are associated with something called hydrotic ectodermal dysplasia (also known as Clouston syndrome, a group of genetic syndromes involving the hair, teeth, and nails which includes extreme sensitivity to light, neurodevelopmental problems, and dysmorphic facial features). In most cases, there is a lack of adequate sweating; however, this is not the case with my daughter. This is something you may want to look into. I hope you find the answers you are looking for.

K.S., Tunkhannok, Pennsylvania

EDITOR'S NOTE: For more information on ectodermal dysplasias, contact: National Foundation for Ectodermal Dysplasias (NFED), 410 E. Main St., P.O. Box 114, Mascoutah, Illinois 62258-0114; telephone: (618) 566-2020; fax: (618) 566-4718; Web site:; E-mail:

Hydrocephalus and agenesis of corpus callosum

A.I. and S.I., Chesapeake, Virginia (December 1998), have an adopted infant son who was diagnosed in utero at 7 months as having hydrocephalus. Later, a diagnosis of agenesis of the corpus collosum was made. Because of this diagnosis and their son's indwelling (permanently bent) thumbs, neurologists now suspect a possible X-linked chromosome hydrocephalus. Most recently, doctors and developmental pediatricians have diagnosed their son as having cerebral palsy, as well as a poor cognitive and verbal level. A.I. and S.I. would like to hear from anyone who knows of or has a child with similar characteristics. They would also like to know if this is possibly a genetic syndrome.

When my son was 2 months old, he was diagnosed as having agenesis of the corpus callosum. Carson has a small head, absent frenulum (a fold of mucous membrane under the tongue, which limits the movement of the tongue, aiding speech and eating), esotropia of the eyes (cross-eye; internal or convergent strabismus), and has worn glasses since he was 6- months old. My son also has microcephaly and nasal stenosis (the constriction or narrowing of the nasal passages--corrected by surgery.) In addition, he has seizures, feeding problems, severe developmental delay, and he is allergic to amoxicillin and the DPT (Diptheria, Pertussis, and Tetanus) vaccine (the vaccine for whooping cough).

Carson has been diagnosed as having the cognitive level of a 5-month-old. His verbal level is around the age of an 8-month-old.

The doctors who have examined my son seem to have no real clue as to what caused him to be this way. I also have two older sons, and they are perfectly normal.

In hopes of finding answers, I listed my son with the Association of Birth Defect Children, Inc. (ABDC). They hook people up with the names, addresses, and phone numbers of others around the country who have similar disabilities. Unfortunately, they have not found an exact match for Carson, but I continue to have hope and so should you. It is tough to care for a child who has a special need and keep a positive attitude, but I try to think of it as a gift, not a challenge.

T.H., Stony Creek, New York

EDITOR'S NOTE: Contact ABDC at: 930 Woodcock Road, Ste. 225, Orlando FL, 32803. telephone: (407) 245-7035; fax: (407) 895-0824; Web site:

Undiagnosed with early stage seizures; undiagnosed overgrown syndrome

D.M., Traverse City, Michigan (July 1998), responded to a search letter in the March, 1998, issue regarding myelination loss, and suggested the United Leukodystrophy Foundation's (ULF) "second opinion program," which reviews a child's records in hopes of making a diagnosis. That is where D.M. received a diagnosis for her two sons.

They have an extremely rare leukodystrophy called Aicardi-Goutierres syndrome (a genetic recessive disease that involves brain atrophy, loss of myelin, calcifications in the brain, chronic elevated levels of white blood cells in cerebrospinal fluid, and chronic red flushing of the cheeks, ears, and feet caused by histamine reactions). D.M. is also very interested in hearing from other parents with children who have C.P. and brain calcifications, who are suspected of having prenatal infections

We also have two children who were recently diagnosed with Aicardi-Goutierres leukodystrophy. Our son Cody is 16, and our daughter Kasey is almost 13. They were both diagnosed through the "second opinion program" through the ULF.

When Cody was born, he had a club foot, but that was the only obvious deformity at the time. My husband, however, had noticed nystagmus (the constant, involuntary rhythmic movement of the eyeball) in Cody and became concerned. Cody was also very fussy. He would scream approximately 22 hours out of the day for the first four to five months before medication got him sleeping soundly. At 2 months old, he got sick with viral meningitis. A neurologist diagnosed him with cytomegalovirus (CMV), a herpes virus. We were told that it was a viral infection, and that he would never have it again. His muscle tone was also poor. We always noticed that his cheeks would turn red, along with his hands and his feet, but no one seemed to know why. After two-and-a-half years, we decided to have another child.

After our daughter Kasey was born, my husband and I realized she had the same thing as Cody. A new neurologist told us that both of our children had an enzyme-type deficiency, but she was not sure what type it was.

Two-and-a-half years ago, we sent in all of their records to the "second opinion program" and this year, we received the diagnosis of Aicardi-Goutierres. Cody and Kasey have severe disabilities from the disease, but they both seem to enjoy life to the fullest. Yes, they are both nonambulatory and nonverbal, and Cody is more prone to seizures, but they have not regressed, and they have both learned how to use some augmentative communication devices. Also, both have been successfully mainstreamed into a regular school system.

M.R., St. Louis, Missouri

EDITOR'S NOTE: For more information on leukodystrophy, contact: the United Leukodystrophy Foundation at 2304 Highland Dr., Sycamore, Illinois 60178; telephone: (815) 895-3211; fax: (815) 895-2432; Web site:; E-mail:
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Publication:The Exceptional Parent
Date:Jul 1, 1999
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