RDEB Caregiver Journey
The RDEB caregiver journey starts with the proper diagnosis of RDEB disorder. Once a child is confirmed to suffer from RDEB, then the parent needs to adjust appropriately and develop an effective schedule to take care of the child. Below is a summary of the caregiver journey:
- The RDEB caregiver journey starts when a child is diagnosed with the disease. The first step is to perform an RDEB laboratory diagnosis.
- Laboratory diagnosis is very important for RDEB patients because it identifies the correct strain of ED the child is suffering from. This also allows for the genetic profiling of the parents, personalized medication, and effective participation in trial therapy programs.
- Genetic testing and sampling of skin samples are the main processes used for RDEB diagnosis. When diagnosing infants, sample skin sampling is recommended.
- To rule out or confirm EB disorder, the parent and the child will undergo a series of tests for some time. Only qualified professionals working in recognized institutions with DREB specialization are recommended to carry out EB diagnosis.
Establishing a New Schedule for EB Care and Management
- Once a child is confirmed to have RDEB, the parents embark on a difficult journey of caring for the patient and managing the disease. This is because while research on various treatment options is ongoing, there is no confirmed cure for the diseases. RDEB care and management involve:
Podiatry (Foot Care)
- According to the EB registry, 33% of all EB patients suffered from dystrophic nails. The most prevalent foot toe disorders are EB simplex (90%), dominant dystrophic EB (83.25%), and recessive dystrophic EB (94.8%).
- Deformed nails often get caught on things giving the patients painful experiences. Since they get abnormally hard, they are difficult to trim.
- For proper management of dystrophic EB varieties, the parent is expected to come up with a schedule of grooming their child.
- The recommended procedure for foot care involves making a 2-liter salt (45g) solution of lukewarm water, soaking the feet to soften the nails, and then filing them with an emery board. Nails should be trimmed straight across. This process should be done once per week for children.
Wound Care and Pain Management
- Wounds caused by RDEM start by forming blisters. These blisters can metastasize and cause bigger wounds. This can lead to the damage of nerve endings on the skin causing a 'burning pain' to the patient.
- When caring for these wounds, the caregiver should start the process by preparing the dressing materials, drain the blister by making entry and exit holes on it, placing a protective soft cloth on the wound, and leaving the blister roof intact. Remove any dead skin that forms around the would. Parents should consult with specialists for any topical pain relievers.
- This is a daily routine as it is hard to predict when and where wounds will appear. Parents are encouraged to develop regular exercising schedules with their children. This helps in preventing deformity of their limbs and an altered gait among others.
- Both caregivers and juvenile patients of RDEB need strong psychological support. This can be given free of charge in EB centers or closed groups.
- Usually, both the parents and children (when they get to a school-going age), need advise on a wide range of things such as financial help, education, and even bereavement support.
Joining an RDEB Support Community
- Due to the traumatizing nature of RDEB on patients and caregivers, it is advisable for parents to join support groups in their locality on the internet.
- Currently, there are 42 national EB support groups in the world and other online platforms. Some examples of online sites include DEBRA International and Orphnet while countries with national support groups include U.S., United Kingdom, German, and Brazil just to mention a few.
- Joining these groups is free as long as one is an EB caregiver, patient or supporter. The journey for joining an EB group starts by signing up on the group's website.
- Once one becomes a member, they get infallible information on how to care for patients, details on ongoing treatment trials, counseling, and the opportunity to attend EB meetings in the area.
- Support groups also fundraise to offer financial support to group events and trial treatment programs. For instance, the total funds used to support the direct-to-client program by DEBRA International in 2018 was $3 million. It also supports a total of 25 research programs related to EB.
- The groups also offer special support to patients and families living with EB. For example, the U.K. based RDEB support group is offering up to 2 weeks of subsidized holidays for its members. These facilities are specially designed to give memorable holidays for patients and their families.