Brain and Gene Research

What can your family do today to make a difference in the lives of individuals diagnosed with HPE and their families?

Families for HoPE and the Carter Centers for Brain Research in Holoprosencephaly and Related Brain Malformations have very similar goals with respect to education about HPE and providing a support network for individuals with HPE and their families.  As a result, the two organizations from time-to-time will collaborate on various projects in an effort to bring hope to individuals affected by HPE.  Please read the letter below from the Carter Centers as it summarizes its programs available to the families of individuals diagnosed with HPE.  In conjunction with this, Families for HoPE encourages all parents and guardians of individuals with HPE to participate in the various programs offered by the Carter Centers.

Many parents and family members have expressed great frustration that the medical community is quoting statistics and giving advice based on outdated articles, journals, and medical books.  As families, we have the ability to help re-write those outdated medical statistics and predictions of prognosis when we participate in the Carter Centers’ programs.  Without our families’ participation, the research is slow-going.

One of the easiest steps to begin is to provide information to the Carter Centers for its International HPE Registry.  Through the convenience of an online form, it only takes a few minutes to submit your information and/or update contact information you may have provided to the Carter Centers in the past.  Also, if you would like to receive forms for the neuroimaging or genetics studies, you can include an indication of that request at the bottom of the online form in the box for additional comments, and you will be contacted by the Carter Centers for more information.  (Won’t you also take a moment and submit your contact info to Families for HoPE and let us know that you visited our site?)

By consenting to have our child’s MRI or CT scans reviewed by the radiologists at the Carter Centers, we can receive a more definitive diagnosis for our child based upon a comparison with hundreds of scans of other children with HPE.

By providing blood and/or saliva samples, we and our children can help geneticists and researchers find the genes involved in the mysteries behind HPE.  This research may eventually provide the answers to questions posed by many parents, siblings and extended family members with respect to how HPE may or may not affect future generations.

Through clinical evaluations at the Carter Centers clinical sites, the evaluation of skills and abilities of our children can be a driving force for new treatments and technology to remove barriers in motor function and communication.  By gathering information and evaluating outcomes, the Carter Centers is able to provide all families with more knowledge and information about prognosis, treatment, and life expectancy.

As families seeking hope in the journey with HPE, it is vital that we assist the Carter Centers in its initiatives if we want to change the attitudes and outlook for future generations affected by HPE.  Please join Families for HoPE in furthering this endeavor and sharing our HoPE with the medical community and the world.

Thank you.


1-cclogo

The Carter Centers for Brain Research in
Holoprosencephaly and Related Brain
Malformations

Dear Families,

The Carter Centers for Brain Research in Holoprosencephaly and Related Brain Malformations want to help educate  families  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 provide a variety of services to families (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 do not live near the Carter Centers decide to join the registry, family network, 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.

Services we provide to individual families include:

1)  General information about HPE:

Upon request, we will send you a packet with information about HPE and our services including a complimentary copy of our educational video.  To request an information packet with video, please contact:

Ms. Debbie Baldwin
Texas Scottish Rite Hospital for Children
2222 Welborn Street
Dallas, TX  75219
Debbie.Baldwin@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.carterdatabase.org/hpe/research/registry.html .   You can also download a copy of the registry, complete and mail to Debbie Baldwin (address above).  Please contact Debbie Baldwin for a paper registry to be mailed to you.

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 Debbie Baldwin or request a copy of the scan yourself and mail to:

Texas Scottish Rite Hospital for Children
Attn:  Debbie Baldwin/Department of Neurology
2222 Welborn St.
Dallas, TX 75219

All international patients must obtain a copy of the scans on CD and mail the CD to Debbie Baldwin.

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)  Genetic Testing:

Genetic testing can be very confusing.  Genetic testing looks at chromosomes as well as genes. Each person has 23 chromosomes from their father and 23 chromosomes from their mother.  There are thousands of genes on each chromosome.  Many labs can look at chromosomes, and by looking at chromosomes, the cause of some genetic disorders can be found.   Only a few labs can specifically look at HPE genes.  We recommend contacting the National Institutes of Health (NIH) for more information about gene testing.  This is a free service.  For more information, please contact:

Paul Kruszka, MD
NIH/NHGRIH
Bldg 35, Room 1B 207
35 Convent Drive MSC 3717
Bethesda, MD  20892-3717
phone: 301-402-9654
fax: 301-496-7184
Paul.Kruszka@nih.gov

5) Patient Evaluations:

To schedule an evaluation for your child with one of the Carter Centers, please 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,  Dallas, TX
(clinical evaluations limited to Texas residents only and research visits for non-Texas residents)
Nancy Clegg:  Nancy.Clegg@tsrh.org
214-559-8411

The Carter Center website:  http://www.carterdatabase.org/hpe

For further information about the Carter Centers or its services, please contact:

Debbie Baldwin, BS, CCRP:  Debbie.Baldwin@tsrh.org
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:

Dr. Nancy Clegg, RN, CNS, PhD, CCRP:  Nancy.Clegg@tsrh.org
National Holoprosencephaly Project Director
Texas Scottish Rite Hospital for Children
2222 Welborn St.
Dallas, TX 75219
Phone: 214-559-8411     Fax: 214-559-8383

https://familiesforhope.org/home.html – Our Sister Organization, Families for HoPE, strives to give hope to families in all phases of their HPE journey by sharing the knowledge which can only be learned by having or knowing a child with holoprosencephaly. Providing parent-to-parent support, grief support, HPE family conferences and special events, educational materials, and public awareness.

http://health.groups.yahoo.com/group/holoprosencephaly/ – The online parent support group

http://health.groups.yahoo.com/group/HPElosssupport/ – The online parent support group for families who have lost a child with HPE

http://www.ninds.nih.gov/disorders/holoprosencephaly/holoprosencephaly.htm

There are several Facebook pages you can join:

Families for HoPE DADS!
Families for HoPE: missing our kids (for grieving families)
Holoprosencephaly & Families for HoPE, Inc.