“I can’t imagine what you are going through.” You will likely hear this phrase again and again from well meaning friends and family searching for the right words in a difficult time. And it is true. Try as they might, no one can imagine what you are going through except those that have lived it. That’s why we are so glad you have found us online. We understand, we have been there too.
Most likely you’re feeling a mix of complex emotions right now. If you are a parent to an older child and have been searching for a diagnosis over many years, you may feel relieved that there is finally a name to the mystery of your child, but you’ll still need to understand what it all means. If you are a parent of a very young child, you may be overwhelmed by the diagnosis and the thoughts of raising a child with special needs. Almost all of us need time to come to terms with what this diagnosis means for our child and for our family. The healing process is different for each person and each member of your family. Please know that you are not alone in this journey. There are many here in the support group that have walked in similar shoes. We can provide you important information and support to help you in this new journey. Our first words of advice, remember that your beautiful child is the same beautiful child he/she was before you heard the words “Pitt Hopkins.” And know that the happiness that they bring will never stop.
PTHS Support Group: Parents of Pitt Hopkins Facebook Group
Our Parent Facebook group is a place for parents to share triumphs and struggles they experience while caring for loved ones with Pitt Hopkins Syndrome. Our Facebook page is designated as a “secret group” to ensure privacy for our families. If you would like to join the parent support group on Facebook, please message us at the Foundation’s Facebook page: https://www.facebook.com/pitthopkins.org, requesting membership and explaining your connection to Pitt Hopkins Syndrome. We will then send you an invitation to join the group.
Pitt Hopkins Research Foundation Family Registration
Registering with the Pitt Hopkins Research Foundation will help keep you up-to-date on the latest information regarding PTHS. You can choose to receive our newsletters, conference announcements and special mailings. Our database is not shared with external organizations. If you so choose, you may also allow us to share contact information with local families in your area, and send you info on research studies or Pitt Hopkins clinics closest to your home. Please click on this link to register: https://pitthopkins.org/family-registration/
Pitt Hopkins Clinics
In 2015 the Pitt Hopkins Research Foundation launched an effort to organize a Pitt Hopkins Clinical & Research Consortium. The foundation provides administrative structure, such as meeting planning, publicity and internal communication. We are so thrilled that University of Texas Southwestern’s Children’s Health and University of California San Francisco are now officially open. We are also working hard to help establish additional clinics. Our goal is that all families will have access to quality evaluation, treatment recommendations and referrals within a reasonable geographic distance from their homes.
Pitt Hopkins Clinic at Children’s Health, University of Texas Southwestern, Dallas Texas
Clinic Director: Dr. Sailaja Golla, Neurodevelopmental Pediatrician
Clinic location: Medical District of Dallas at 6363 Forest Park Road, Bass Building – 5th floor, Dallas TX 75235
University of California San Francisco
Clinic Director: Dr. Elliot Sherr, Professor of Neurology and Pediatrics, Director, Brain Development Research Program
Maria Papadakis is the clinic coordinator and starting point of contact: Maria.Papadakis@ucsf.edu , 415-502-5487
Additionally, there is an independent clinic at Mass General that has elected not to be part of the clinical consortium. This clinic can be reached at: 617-726-6540
Frequently Asked Questions
What is Pitt Hopkins Syndrome (PTHS)?
What causes Pitt Hopkins Syndrome and what is the pattern of inheritance?
What are the diagnostic criteria for Pitt Hopkins Syndrome?
What tests are used to determine if my child has Pitt Hopkins Syndrome?
What’s the difference between a clinical and a genetic diagnosis of Pitt Hopkins Syndrome?
The majority of our children have both a genetic and a clinical diagnosis of PTHS. For a genetic or molecular diagnosis, a sample of DNA is isolated from blood, and chromosomal deletion at 18q21.2, or a mutation in the Tcf4 gene on chromosome 18 confirms the diagnosis of PTHS. A clinical diagnosis requires the judgment of a clinician and is based on identifying the phenotype or physical characteristics associated with PTHS. In most cases, individuals with the genetic findings for PTHS exhibit some or all of the phenotypic characteristics of PTHS. In some cases, individuals have been diagnosed clinically, before the advent of genetic testing for PTHS. In rare cases, geneticist are unable to locate the genetic lesion associated with PTHS, but the characteristics of the individual in question are so compelling that the diagnosis is made.
Rarely, individuals have been identified with mutation in Tcf4 (genetic diagnosis) and mild intellectual disability. If they lack the facial appearance for PTHS as well as other “syndromic” aspects of PTHS, the clinical diagnosis may be “non-syndromic intellectual disability.”
How can I follow Pitt Hopkins on social media?
In addition to the Google Groups Support Group and the Parents of Pitt Hopkins Facebook Group listed above, we have an open Facebook page and Twitter account which you can follow by clicking below-
Email – firstname.lastname@example.org
Facebook – www.facebook.com/pitthopkins.org
Twitter – https://twitter.com/PittHopkins
Instagram – https://www.instagram.com/pitthopkins_rf/
Pinterest – https://www.pinterest.com/pitthopkinsorg/
How can I get on the mailing list for the monthly Pitt Hopkins Research Foundation e-Newsletter and updates?
We also have a monthly e-newsletter and periodic updates which you can subscribe to stay up to date on news and events going on with the Pitt Hopkins Research Foundation. Click here to sign up to receive the monthly e-newsletter:
How can I find additional International Pitt Hopkins organizations and websites?
Click on the following link to download the latest brochure on PTHS that you can share with your family, friends, doctors and therapists.
How can I learn about other families of children with Pitt Hopkins Sydrome?
1) See PTHS family stories: http://pitthopkins.org/causes/our-stories/
2) Join our Parents of Pitt Hopkins Facebook Group, see info above.
3) Read other family’s news articles in our News & Media section: http://pitthopkins.org/category/news/
4) Read about a child with PTHS in their family’s blog: http://www.victorpauca.blogspot.com
5) See individual PTHS family’s Facebook pages: