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Chromosome 13q-syndrome

[S] I work in an early-intervention program, and I am seeing a family whose 14-month-old son was recently diagnosed as having Chromosome 13q-syndrome. (This is a rare disorder in which part of the long arm of the 13th chromosome is missing. It is characterized by craniofacial malformations, limb abnormalities, poor growth, and psychomotor delays). The child is at increased risk for developing retinoblastomas (cancerous minors of the eye) before age 5 and osteosarcomas (cancerous tumors of the bone) after age 8. He has already had one retinoblastoma removed. The baby is globally delayed (functioning at about half his chronological age), but he is improving. The family is eager to communicate with other families who have a child with chromosome 13q-syndrome, especially in Colorado or the western US.

R. S., Grand Junction, CO

EDITOR'S NOTE: You may want to contact Chromosome Deletion Outreach, Inc., PO Box 724, Boca Raton, FL 33429-0724; (516) 391-5098; E-mail: cdo@worldnet.; Web site: cdousa/cdo.htm; or the National Retinoblastoma Parent Group, PO Box 317, Watertown, MA 02471; E-mail: napvi@


[S] My 4-year-old son is undiagnosed after genetic testing, an EEG, and an MRI. He is delayed in all motor skills and speech. He also has a high-arched palate and receding chin. We had a G-tube inserted because he is not able to swallow. He has been seen by occupational and speech therapists, but neither has helped him with swallowing. He is making improvements in the other areas of development, but I am at the end of my rope with the swallowing. Any information would be helpful.

L. C., via the EP Web site

Genetic syndrome?

[S] I have two sons with special health needs. My 9-year-old son has cerebral palsy and periventricular leukomalacia (white matter volume loss and immature myelination). Now my previously healthy 2-year-old son has been diagnosed with myoclonus (a neurological movement disorder characterized by sudden, involuntary contractions of the skeletal muscles). I am wondering if my two sons' problems are related. I am looking for more information about myoclonus and whether there are any treatments besides medications. I would also appreciate information on programs in New York that will help us adapt our home and purchase equipment for the boys.

A. B., New York, NY

Patterson-Lowry rhizomelic dysplasia

[S] My 10-year-old son was diagnosed as having Patterson-Lowry rhizomelic dysplasia (a rare skeletal disorder that is characterized by shortening of the long bones, especially the anus; coxa vara, where the thigh bone is angled toward the center of the body; short stature; and limited shoulder motion). We have encountered many medical problems including: epilepsy, learning problems, coxa vara that required surgery, and dyspraxia (difficulty performing tasks that require coordination). We are not sure if he has been diagnosed correctly and would appreciate any information.

L. T., LaCrosse, WI

Dr. Feudtner: You may wish to discuss with your physician the possibility of a consultation at a major center that deals with rare chondrodysplasias.

EDITOR'S NOTE: You may want to contact the International Center for Skeletal Dysplasia, Saint Joseph's Hospital, 7620 York Road, Towson, MD 21204; (410) 337-1250.

Custom buggy

[S] I have a 7-year-old daughter who has cerebral palsy, microcephaly, and epilepsy. I recently found out that I am pregnant. I will desperately need a double buggy to transport both children. My older daughter requires good support due to her physical problems. I have tried everywhere here in the UK and have not come up with any possibilities. I would appreciate any advice or contacts, even in the States.

Elaine, via the EP Web site

Portable potty

[S] My ten-year-old daughter has cerebral palsy, is non-ambulatory, and cannot talk. When we go to use public restrooms, it is very difficult for me as her caregiver to constantly hold her on a regular toilet bowl. I am in search of a portable potty that can be placed on a regular-sized toilet bowl--one that has sides (so she will not fall over) and is foldable (to fit in a dia per bag).

J.S., via email

Probable mitochondrial metabolic disorder

[R] H.H., December 1999 (via the EP Web site), has a son who is undiagnosed. He has feeding difficulties, a seizure disorder, developmental delay, and a high level of lactic acid in the blood. She requested information on further testing to help determine a diagnosis, and also wanted ideas on seizure medications that would not make the mitochondrial disorder worse.

My 2-year-old daughter has the same symptoms and was diagnosed with a peroxisomal disorder. (Peroxisomes work to rid the body of toxic substances.) She has some characteristics of infantile Refsum syndrome (a rare disorder of lipid, or fat, metabolism) and some of neonatal leukodystrophy (a rare, progressive, genetic metabolic disorder that affects the brain, spinal cord, and nerves). My daughter is also like a 6-month-old. She cannot walk, talk, or sit up. Her head control is still poor, and she suffers from seizures as well. She is currently on liquid Depakote[R], which has reduced the length of time of the seizures from 20 to 7 minutes (approximately). My advice is to ask your doctors to consider a skin biopsy before a muscle biopsy (so as to be less invasive), and to check the blood levels of the "very long fatty acids" that accumulate in people who have peroxisomal disorders.

Dolores, via the EP Web site

Respite Care

[R] Marcy, Feb 2000 (via the EP Web site), requested information on obtaining respite care for her two children with severe disabilities. Her family lives in Michigan.

Contact your local community mental health (CMH) board. They should be listed in the phone book in the government section. Respite is an important area for families with children with special needs, and great efforts have been made in funding for respite. In our county, respite is available about every 6 weeks. The CMH may also have funds for home nursing. Check with your insurance first, as many good policies will cover this need, particularly if one spouse has to travel for his or her job.

Clay, via the EP Web site

Search and Respond is an opportunity for our readers to exchange information about their practical experiences in meeting the everyday challenges of life with a child or adolescent who has a disability. In this column, "S" represents Search letters and "R" represents Respond letters received to a previously printed Search. "Instant S&R" is a new feature which represents e-correspondence we have downloaded from our Web site. All Responds are forwarded to the writers of the original Searches; some are published. Published letters may be edited for purposes of space and clarity. We also expect parents to consult appropriate professionals.

When sending correspondence, please indicate whether it is a Search or a Respond. For Responds, be sure to note in which issue the original Search letter appeared. Please remember to include a phone number on all correspondence, in the event that more information is required. Write to: Exceptional Parent, Attn: Search/Respond, 555 Kinderkamack Rd., Oradell, NJ 07649-1517; Fax to: (201) 634-6570; E-mail to; or visit Search and Respond on our Web Site:

For information about specific disabilities, contact: the National Organization for Rare Disorders (NORD), 100 Rt. 37, PO Box 8923, New Fairfield, CT 06812; (800) 999-6673; (203) 746-6518; Web site: Also, see the "National Resources for Specific Disabilities" directory in Exceptional Parent's 2000 Resource Guide (January 2000, starting page 30).

Each month, Chris Feudtner, MD, PhD, reviews Search & Respond for accuracy and completeness. Dr. Feudtner is a pediatrician at the Pediatric Care Center of the University of Washington in Seattle, and is currently a Robert Wood Johnson Clinical Scholar. Look for Dr. Feudtner's comments on certain Search & Respond letters.
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Author:Feudtner, Chris
Publication:The Exceptional Parent
Date:Apr 1, 2000
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