Where is the clinic located?

The clinic’s primary location is on the 6th floor of the Yawkey Outpatient Building at the Hospital’s main campus. There may be several location options for patients who need to see specific providers for follow up appointments for seizure or medication management and other issues.

Who is the clinic contact?

Janelle Shea MS, CGC, is the clinic coordinator. She is a licensed genetic counselor and will be the primary pre-visit contact and will provide information about the clinic, help schedule and coordinate appointments. She can provide guidance on medical records and test results that will be helpful to prepare for the visit as well as helping the families obtain pre-visit authorizations and approvals. Amanda Heater, RN, will be the primary contact for post-visit follow up questions.

How do I initiate a visit to the clinic?

There are several steps to take:

  1. Please register the patient with MGH. Patient registration does not imply any obligation to visit the clinic, it simply associates the patient with a hospital medical record number. Patient registration can be reached at (1-866-211-6588).
  2. Contact Janelle Shea at (617) 726-1562. Janelle will work with you to figure out how best we can serve your family in our clinic.
  3. Register for Patient Gateway. This is a secure portal through which you can communicate to the Pitt Hopkins team of providers at MGH: https://patientgateway.massgeneralbrigham.org/mychart-prd/accesscheck.asp
  4. Work with your local physicians to obtain copies of medical records. Janelle will work with you to clarify which medical records are most relevant to the clinic visit and can help with records release forms.

What does the clinic do?

The PTHS Clinic aims to provide comprehensive clinical care to individuals with Pitt-Hopkins syndrome. With the ultimate goal of improving quality of life for individuals with Pitt Hopkins syndrome, the clinic can provide “one-stop-shopping” access to a wide range of specialists who work together to evaluate and treat the most common problems encountered in Pitt Hopkins syndrome. Your clinic visit may include appointments with specialists in neurology/epilepsy, genetics, sleep, gastroenterology and nutrition, neuropsychology, psychiatry and pulmonology. 

The physicians will evaluate patients and develop a comprehensive plan for each patient, which can be shared with the caregiver, referring physician, school and/or community program. Care is taken to help the family locate appropriate resources. Long-term follow-up care is provided via periodic consultations, either at the clinic or through local physicians as needed.

Which doctors/specialists should my child see?

The PTHS Clinic engages specialists in neurology/ epilepsy, genetics, gastroenterology, psychiatry, neuropsychology and sleep medicine. Collaborators include:

  • Ronald Thibert, Neurology/Epilepsy – Co-Director
  • David Sweetser, Genetics/Metabolism – Co-Director
  • Amy Morgan, Neuropsychology
  • Jeffrey B. Kreher, MD, Orthopedics
  • Steve Haggarty, PhD, Research
  • Clare Zar-Kessler, GI
  • Ken Sassower, Sleep Medicine
  • Lael Yonker, Pulmonology

During an initial visit, patients will see Dr. Thibert for a neurological/epilepsy evaluation and Dr. Sweetser for a genetic evaluation including reviewing medical and family history, obtaining a detailed physical exam, and providing counseling regarding our current understanding of the genetics as well as the various manifestations of Pitt Hopkins Syndrome. The visit will be tailored to help address the specific questions and concerns of the families. Other specialists will be involved as needed. The Clinic Coordinator will work with patient families and referring physicians to identify specialty care needs and coordinate the visit so that they can see these specialists during the course of their visit.

What do these doctors do differently from my current neuro/geneticist/specialist?

This clinic provides comprehensive, multi-disciplinary and coordinated care by a team of physicians, nurse practitioners, and counselors who have a commitment to advancing understanding of the medical conditions associated with PTHS. With the help of our families and detailed assessments over time we plan to build a better understanding of the natural history of disorder and identify targeted areas to focus on to improve the quality of life for our families.

What does it cost?

Before scheduling a visit, check with your health insurance provider to determine whether your visit will be covered. Medicaid and private providers will provide details regarding your coverage, including any copayments or deductibles which are your responsibility. Prior authorization by your pediatrician or primary care physician is recommended. Our clinic coordinator will provide guidance throughout this process; let her know if you are experiencing problems with obtaining approval. Our clinic does have some resources to help families coordinate these visits.

Will the clinic accept Medicaid?

Yes. However, some states regulations make it difficult for patients to access out of state care.  The clinic coordinator will provide guidance to families to navigate these issues.

How do I share records with clinic physicians?

In advance of your visit, please ask your local providers to release the records to Mass General. The Clinic Coordinator will provide specific information on the information of most usefulness and where to mail these.

What tests will be performed during my clinic visit?

While the program offers a full range of testing, for reasons of cost and efficiency and insurance coverage, the team may recommend that tests be done locally. The Clinic Coordinator will provide guidance related to recommended testing. If additional tests are needed while a patient is on campus, the team will work with the insurance provider to authorize these.

What prior imaging will be helpful for clinic doctors?

For the neurology evaluation, CT or MRI images of the brain and spine will be helpful. If EEG’s have been performed those will also be very helpful – ideally any of the studies that have been done can be sent or brought on disk for review.

Will they communicate with my own doctors?

Clinic reports will be shared with the referring doctor and/or the patient’s primary care physician. Local doctors can contact the clinic at any time with questions.

Will there be a report from our clinic visit?

Clinic reports will also be shared with families.

Will the clinic offer treatments?

Yes. Patients with Pitt Hopkins usually have multiple medical and physiological issues including seizures, breathing issues, sleep, and GI dysmotility. Depending on the ability of the families to return for follow-up and the medical resources available locally to the patients we may help with management of specific symptoms of Pitt Hopkins or may provide recommendations for local providers.

Can we participate in research?  Please describe.

The information from your medical records and obtained during the clinical visit will be incorporated into a growing PTHS registry. As this information accumulates, it will be an excellent source for case series looking at various clinical aspects of PTHS, including epilepsy, breathing disorders, psychiatric co-morbidities and neuropsychological profiles. This will lead to a better understanding of the features of Pitt Hopkins and hopefully reveal ways to improve the quality of life for all our PTHS kids and adults.

The team will add data collected through surveys and questionnaires sent to PTHS families. This will help us identify the issues to focus on in terms of clinical care and future clinical research.  Once certain clinical issues are identified as well as potential treatments, targeted studies assessing various clinical treatments for these issues (i.e. our trial assessing the effectiveness of dietary therapy for seizures in Angelman syndrome) will be initiated.

In addition, families can work with collaborators at Mass General’s Center for Human Genetic Research to provide genetic materials for the study of Pitt Hopkins Syndrome.

Do these doctors have new ideas around the breathing issues seen in Pitt, and how to treat these?

Not yet, but this is a significant area of interest for the clinic.