Newly Diagnosed

Because many symptoms and comorbidities of hypothalamic hamartoma can lead to complications and evolve over an individual’s lifetime, the expertise of a multidisciplinary team is needed to effectively manage patients with hypothalamic hamartoma. That team should recommend a care plan for you or your loved one with hypothalamic hamartoma, based on your individual needs. Knowing all you can about this rare and complex syndrome will help you advocate for the care you need.


1. Understand Your Diagnosis

Just as the medical professionals are the experts in their clinical areas, you are the expert on you or your loved one! The better you are able to communicate your needs or those of your loved one, the better your team will be able to provide the patient-centered care you deserve.

  • What is a Hypothalamic Hamartoma? – Learn about this rare brain tumor and epilepsy disorder.
  • For an understanding of the anatomy of hypothalamic hamartomas and the various types of HH go to Anatomy of HH.
  • The Symptoms – Learn about all of the conditions and comorbidities associated with this complex and rare epilepsy syndrome.
  • Start a medical records binder – some things you may want to include are:
    • Diagnosis – include all conditions either associated with HH or not
    • Treatment Care Plan
    • Preparation for Surgery or Procedures
    • Second Opinions
    • Questions or Primary Concerns
    • Important Recommendations and Communications from my Healthcare Team
    • Concurrent Treatments and Therapies
    • Testing Results: Lab Reports, Radiology Reports, Surgical Reports
    • Nutritional Suggestions or Guidelines
    • Medication List and Herbs or Supplement List
    • Side Effects and Timeframes
    • Changes in Physical and Emotional Health: sleep, strength, fatigue, pain, anxiety, fear, nutrition, appearance, social life…
    • Rehabilitation (Physical therapy, occupational therapy, speech therapy…)
    • Supportive Care Services
    • Integrative Therapies
    • Social Services
    • Appointments and Scheduling
  • Keep a diary – all seizures and other symptoms you are noticing. Report anything unusual or out of the norm for you or your loved one. It is important to remember there is no “textbook case of HH” so just because you are not sure if it is related…write it down and ask the question!

Become familiar with some of the terms your healthcare team may be using – check out our Glossary.


2. Understand HH Treatment Options

There have been many great advances made in the last 10 years in HH treatment. If there are seizures, most providers will recommend beginning treatment with antiepileptic drugs (AEDs) and working from there. Important discussions regarding individual’s quality of life, surgery risk/benefit analysis and expected outcomes should be had before deciding on a treatment plan.


3. Treating Other Potential Comorbidities

  • Endocrine – Endocrine issues can be evident early in the HH journey as in the case of precocious puberty, growth, and thyroid deficiencies. Many more issues can arise as a result of surgical intervention. Due to the close proximity of the pituitary gland, it is encouraged to have a full endocrine evaluation done by an endocrinologist when a diagnosis of HH is made.
  • NeuropsychiatricDepression and anxiety are the most common types of psychiatric comorbidity in patients with epilepsy. AEDs can also impact mood disorders and make them worse. Most epilepsy centers in the US do NOT include a psychiatric evaluation as part of a complex epilepsy diagnosis let alone include psychiatrists on the HH healthcare team. With mood and depressive disorders being so common with HH, it is highly recommended that adults with HH ask to have these incredibly important providers be included on their Team for the initial evaluations and beyond, if needed.
  • The Symptoms – Learn about all of the conditions and comorbidities associated with this complex and rare epilepsy syndrome.

4. Assemble Your HH Healthcare Team

Many if not most individuals with HH will consult the following specialists at some point on their journey with HH. While it is highly recommended to consult practitioners with HH experience, that won’t always be possible. In that case, be sure you have done your research and be prepared to have the challenging conversations. In some cases, you may end up consulting more than one specialist in order to find one you are comfortable with and feel that you can work as a collaborative team.

Your Healthcare Team

  • Primary care physician: Your local doctor who sees you for common health problems. Although this physician does not specialize in hypothalamic hamartoma care, the primary care physician can be a great help in finding specialists and helping to coordinate overall care.
  • Neurologist: A neurologist is a medical doctor who specializes in treating diseases of the nervous system. The nervous system is made of two parts: the central and peripheral nervous system. It includes the brain and spinal cord.
  • Epileptologist: A neurologist who specializes in the treatment of seizures and epilepsy.
  • Neurosurgeon: A surgeon who treats many disorders of the nervous system.
  • Endocrinologist: A physician who specializes in the system of organs that secrete and respond to hormones. An endocrinologist may be consulted if one or more of the endocrine organs, such as the pituitary gland which is located in the brain, becomes affected.
  • Neuropsychiatrist: A psychiatrist of psychiatrist specializes in understanding how diseases of the nervous system contribute to mental disorders. Therefore, these specialists study both psychiatric and neurologic disorders.
  • Neuropsychologist: A psychologist who specializes in understanding how cognitive, emotional, and psychological functioning work in the brain. If the patient is experiencing psychological side effects from the hypothalamic hamartoma or its treatment, a neuropsychologist can help assess brain damage to these areas and construct strategies to improve functioning.
  • Geneticist: A scientist who studies genetics including how genes are inherited, mutated, activated, or inactivated
  • Neuro-ophthalmologist: A physician who specializes in treating vision issues linked to neurological conditions
  • Geneticist: A scientist who studies genetics including how genes are inherited, mutated, activated, or inactivated.
  • Rehabilitative specialists: The rehabilitative team can include occupational therapists, physical therapists, and speech therapists, who work to help improve strength, mobility, or communication

Related Specialists

  • Hospitalists: Physicians working within the hospital. Their care focuses on the hospital stay, and the medical care needed during that stay.
  • Social worker: A professional typically assigned by the hospital and/or clinic to help assess and assist with both patient and caregiver needs, from navigating insurance to obtaining services.
  • Nurse practitioners: Providers who oversee the management of patient care as recommended by a physician.
  • Nurse navigators: These professionals can help you identify educational and support resources at all stages of an illness and can help coordinate appointments and prescriptions. They may be a primary point of contact within the healthcare system.

Doctor FAQ list – Questions you may want to ask your provider to better understand your condition and treatment options.


5. Get Support

Nobody chooses to go through such challenging situations, but when life throws us curve balls, many realize that they have a deep reserve of strength that they never thought they could find. It is often most helpful to find others who are experiencing the same type of journey. Hope for HH provides the following opportunities: