Dear Families,
The Carter Centers for Brain Research in Holoprosencephaly and Related Brain Malformations want to help families with education about the disorder, enhance their knowledge of HPE and how to manage their child's health, and assist families with coping with the overwhelming demands that often accompany providing care for a child with special needs.
The Carter Centers for Brain Research in Holoprosencephaly has 3 clinical treatment centers and several research centers. We share our findings with each other and collaborate on all projects. There are a variety of services available to families (clinical evaluations, education, radiology evaluations, DNA testing, international registries, parent-to-parent networks, etc.). Any parent may choose to be involved in just one program or be involved all programs. Many parents who live quite a distance from the Carter Centers decide to join the registry, parent newsletter, and mailing list. They also may send copies of MRI or CT scans and/or submit clinical information for the international HPE clinical database. We also provide information/recommendations to other physicians caring for HPE patients and provide them with information regarding blood specimens that any lab can draw and send in.
Even if you have lost a child diagnosed with HPE, you may still register your child and request information. We appreciate information on every child with HPE. We are here to help all families.
Services we provide to individual families include:
1) General information about HPE and video:
Upon request, we will send you a packet with information about HPE and our services including a complimentary copy of our educational videotape.
To request an information packet with video, please contact Robbie Jackson: Texas Scottish Rite Hospital for Children, Dallas, TX: Robbie.Jackson@tsrh.org or phone: (214) 559-7614
2) International HPE Registry:
The Carter Centers have established the International HPE Registry as a way to create a comprehensive list of patients diagnosed with holoprosencephaly not only in the United States, but worldwide. Holoprosencephaly (HPE) is a medical condition that is not well understood. The International HPE Registry provides research scientists with a more accurate understanding of the number of HPE cases diagnosed, and serves as a vehicle to collect clinical information to share with other researchers. It also provides a means for families to contact other families, and allow families to receive information regarding potential research initiatives in which they may want to participate.
To register your child with the Carter Centers International HPE Registry you may register online at: http://www.stanford.edu/group/hpe/research/registry.html or contact Robbie Jackson (see above) for a registry form.
3) Evaluation of MRI or CT scan:
If you would like your child's MRI evaluated by one of the Carter Center's radiologists at no charge to you, we will mail you the consent forms necessary to obtain a copy of your child's scans. It usually takes 6 to 10 weeks to obtain the scans, have them evaluated, and send you a written report. We provide a letter verifying the type of HPE your child has, and a description of the problems and abilities of other children with HPE with similar scans (For example, “Your child's scans show severe hypothalamic fusion. Other children with this same finding have problems with temperature regulation and diabetes insipidus. Your child is at risk for developing these problems and will need to be monitored...").
To request the forms allowing us to obtain a copy of your child’s MRI or CT scan, you may contact Robbie Jackson (see above) or request a copy of the scan yourself and mail it to:
Texas Scottish Rite Hospital for Children
Department of Neurology
2222 Welborn St.
Dallas, TX 75219
Attn: Robbie Jackson, HPE Research Assistant
You are not obligated to participate in research. You will receive the same services and support either way. Some parents want to share information and scans so that other children may benefit. Other parents are interested in individual information but do not want their child's information shared with others. We support your decision either way.
4) Patient Evaluations:
To schedule an appointment to have your child evaluated at one of the Carter Centers, you may contact the Center directly:
Kennedy Krieger Institute, Baltimore MD: (hpe@kennedykrieger.org)
Elaine Stashinko: stashinko@kennedykrieger.org (443)-923-9146
Texas Scottish Rite Hospital for Children (limited to Texas residents only), Dallas, TX
Nancy Clegg: Nancy.Clegg@tsrh.org (214) 559-8411
Stanford University, Palo Alto, CA:
Susan Carter: smcarter@lpch.org (650) 498-2692
5) Genetic Testing:
Genetic testing is very confusing. Genetic testing includes looking at chromosomes as well as genes. (Each person has 23 chromosomes from their father and 23 chromosomes from their mother.) Any lab can look at chromosomes (which are responsible for many, many disorders). Only 2 labs can specifically look at HPE genes. (Chromosomes are made up of thousands of genes.)
There are only two options for gene mutation screening.
1. Gene mutation screening through GeneDx. The instructions, consent forms, costs, etc. are on their web page: http://www.genedx.com The company screens for four gene mutations: SHH, SIX3, TGIF, and ZIC2. This is the only commercial lab for HPE testing in the world. However, it is very expensive (almost $2,000) and many insurance companies and medicare do not always cover it.
2. National Institutes of Health (NIH) research screening. This is a free service but you may not get results for many months. They screen for the same four genes listed above plus about 10 others. They require a blood specimen from the child and both parents. If a mutation is found, they often require a second set of specimens be obtained to confirm the findings. The specimens may be drawn at your local lab and mailed to the NIH.
You may request instructions and consent forms from Robbie Jackson Robbie.Jackson@tsrh.org or you may download the forms: http://www.stanford.edu/group/hpe/research/molec_study.htm
For specific genetic questions, you may contact Nancy Clegg, National HPE Project Director at: Nancy.Clegg@tsrh.org or Felicitas Lacbawan, M.D. at the NIH:
Felicitas L. Lacbawan, MD
Clinical Geneticist
NHGRI, NIH
Bldg 35, Rm 1B 211
35 Convent Drive MSC 3717
Bethesda, MD 20892-3717
301-496-3882 (ph)
301-207-0639 (pager)
301-496-7184 (fax)
flacbawa@mail.nih.gov
For more online information, please see our website:
http://www.stanford.edu/group/hpe/
To read postings from other parents:
http://www.stanford.edu/group/hpe/support/families0506.html
The online parent support group is:
http://health.groups.yahoo.com/group/holoprosencephaly/
Families for HoPE: http://www.familiesforhope.org
For further information about the Carter Centers or its services, please contact:
Robbie Jackson: Robbie.Jackson@tsrh.org
Research Assistant, Holoprosencephaly
Texas Scottish Rite Hospital for Children
Department of Neurology
2222 Welborn St.
Dallas, TX 75219
Phone: 214-559-7614 Fax: 214-559-8447
For specific clinical questions or concerns, please contact:
Nancy Clegg, RN, PhD.: Nancy.Clegg@tsrh.org
National Holoprosencephaly Project Director
Texas Scottish Rite Hospital for Children
Department of Neurology
2222 Welborn St.
Dallas, TX 75219
Phone: 214-559-8411
Fax: 214-559-8383
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