Having a family member with CDKL5 typically creates a very complex medical situation. In general, most patients would benefit greatly from a palliative approach to care. Palliative care can be broadly defined as a multidisciplinary approach that prevents or relieves the symptoms produced by a chronic or life threatening or limiting medical condition or its treatment. The goal is to enrich the patients and their family’s lives by helping them lead as normal of a life as possible; providing patients and families with timely and accurate information and support in the decision making process is the top priority. We want to emphasize that it is not the end of life or hospice care (as defined in the US), but rather a team approach to curative treatments, complex care, and support for the patient and family members.
Sometimes there is a lot of confusion when we talk about palliative care vs hospice care, and the definitions and perspectives change depending on what region of the world you live. Palliative care and hospice care have similar goals in that they both provide symptom relief and pain management, however, there are some very important differences:
In the United States of America and in Europe, palliative care is a multidisciplinary approach to the overall care of acute and chronic illness, regardless of the condition or prognosis.
- In the U.S.A, hospice care is reserved for those who are at the end of their lives, with limited time.
- In the UK and Europe, hospice is referred to as a physical building or location where palliative care takes place. End of life care may or may not be the focus.
The following is a list of specialist that should be considered in your child’s multidisciplinary team:
- Rehab Medicine
- Developmental Pediatrics
- Behavioral Psychology
- Physical Therapy
- Speech Therapy & Assisted Augmentative Communication (AAC) Therapy
- Occupational Therapy
- Social work
It is important to find a Primary Care Physician and/or Specialty Clinic (like a CDKL5 Center of Excellence or a Rett Syndrome Clinic) that you can maintain a family-centered approach and trusting relationship with. You are the expert in regards to your child and successful care starts with a healthy respect for the family, health care team, and other service providers.
The following list comprises some of the symptoms found in CDKL5 disorder. Not everyone will have all the signs/symptoms listed here, and some may have other symptoms not mentioned:
- Epileptic seizures starting in the first five months of life.
- Infantile spasms (in about 50%)
- Many different types of epilepsy, usually including myoclonic jerks
- Neurological Emergencies: status epilepticus (SE), nonconvulsive status epilepticus (NCSE) (please also refer to section on medical emergencies)
- Marked developmental delay & intellectual disabilities
- Gastrointestinal disorders: gastro-esophageal reflux (GERD), constipation & motility issues, gastroparesis, eosinophilic esophagitis, food allergies
- Gastrointestinal emergencies such as volvulus and intussusception (please also refer to section on medical emergencies)
- Breathing irregularities such as hyperventilation
- Respiratory emergencies such as aspiration pneumonia, lung infections, apnea
- Cardiac symptoms such as a fast heart rate (tachycardia)
- Abnormal finding on an EKG (electrocardiogram of the heart), such as a long QT segment.
- Cortical Visual Impairment (CVI), aka “cortical blindness”
- Lack of eye contact or poor eye contact
- Low/Poor muscle tone or mixed tone
- A small head (microcephaly) in about 50%
- Small, cold feet
- Interruptive sleep or significant sleep disturbances/disorders
- Very limited hand skills, poor fine motor skills
- Hand wringing movements or mouthing of the hands
- Some autistic-like tendencies
- High pain tolerance
- Hypersensitivity to touch, for example, dislike of hair brushing
- Episodes of laughing or crying for no reason
- Limited or absent speech
- Eating/drinking challenges
- Grinding of the teeth or bruxism