Care coordination of individuals with Pompe disease is essential to the support and treatment of the patients and their families and may be dictated by the patient’s local demographics and individual needs. Local customs, insurance requirements and other factors contribute to decisions of who assumes this role. Nurses, genetic counselors, local primary care providers, medical geneticists and metabolic disease specialists and neurologists may take a central role in providing culturally sensitive care.94,95
Social workers may also facilitate and coordinate some of the services. Individuals assuming the various roles should have current knowledge of the disease process as discussed in previous sections, as well as a comprehensive understanding of the patient’s needs in the therapeutic settings and the community. Education of team members is often required to teach the family and other resource personnel about the disease process and needed medical procedures, and the anticipated future needs and cautions for optimum care of the patient.
Recognizing that the “family” is the constant in a patient’s life, the plan of care should be centered on needs identified by the family and medical/therapeutic providers working as a team. Parent/family/patient collaboration with the professional team should be facilitated at all levels of care to allow for equal participation in establishing the goals of care. Multiple needs which may include separation from core family members due to hospitalization or therapy, transportation, lodging costs, loss of work days, specialized equipment including an adapted vehicle, household assistance, regular medical procedures, vocational retraining, and educational programming should be addressed. Information about therapies, treatments, and resources should be continuously shared with the family in an appropriate and supportive manner that is sensitive to family relationships and respectful of the patient’s position in the family. Timely referrals to appropriate community agencies, including a social worker or other case worker, and advocating for the needed community services is essential support that can be facilitated by the individual coordinating the care of the patient.
The coordinator, in consultation with the physician providing care should recognize the specialized medical and therapeutic care that is required by the patient and should be able to triage and refer them to specific providers as needed. The strengths, preferences, and coping mechanisms of the patient and family should be respected and incorporated into the needs assessment. In addition, any cultural, religious, language or racial differences and sensitivities should be recognized in the development of the plan of care.
Parent to parent and patient to patient support has been reported by many to be one of the most valued resources provided. Resources for this support are outlined in the following section. Another consideration is to identify support for siblings, grandparents and other family members.
The care coordinator should insure that the patient/family is aware of the medical support that has been coordinated, provide the family with the appropriate contact information, and with the patient/family permission, facilitate appropriate information sharing. The family and all providers should be updated on the care plan and patient progress at regular intervals. This will insure comprehensive coordinated care that is family centered.
Family needs and resources
The added responsibilities of living with Pompe disease extend beyond the patient often to a vast network of family and friends. Pompe patients want not simply to live, but to thrive-and many of them do just that. To achieve this, there are constant strains and challenges which take many forms - financial, educational, emotional and psychological. There is today a vast network of resources and information, both public and private, that can ease the burdens of this disease and add greatly to the Pompe patient’s quality of life.
The Muscular Dystrophy Association
The Muscular Dystrophy Association (MDA) is a not-for-profit organization whose goal is to fight neuromuscular diseases through a nationwide research effort, a program of patient medical services and extended education for professionals and families. Pompe disease is one of about 40 neuromuscular diseases included within the scope of the MDA’s mission and services. The MDA maintains 235 hospital-affiliated clinics with nurses, physicians and therapists experienced in neuromuscular diseases. Pompe patients may access all of these services.
In addition, for children, the MDA offers special programs that directly offset the cost of medical equipment, including wheelchairs and other mobility assistive devices. The MDA also sponsors over 90 summer camps which are free of cost across the United States for children with neuromuscular disease. These camps offer children with all diseases, including Pompe, the chance to play with other special needs kids in a fun and safe environment.
The MDA also has extensive knowledge and resources related to the challenges of families living with neuromuscular diseases, including Duchenne muscular dystrophy, Pompe disease and spinal muscular atrophy (SMA). Pompe families will find of particular benefit a book published by MDA entitled “Learning to Live with Neuromuscular Disease—a message for parents.”96
; This book, published first in 1998, addresses such topics as: taking on the challenge; facing your feelings; the importance of reaching out; strength in family relations; and, what your child needs. The book can be found on the MDA web site (see below).
Indeed, the challenges that most Pompe patients and their families face are enormous. They often times strain relationships, friendships and marriages – sometimes they even break them. This stress is a natural part of the shared burdens that surround the care of a person with Pompe. Those families that deal best with these life-altering challenges are enriched by the understanding and mutual concern that becomes a compelling and dominant force in their lives.
Other agencies and web sites specific to related to diagnoses such as DMD and SMA can provide additional information including: Families of SMA (http://www.fsma.org
), and the SMA foundation (www.smafoundation.org
Medicaid is a joint state-federal entitlement program which provides primarily medical care to low-income Americans. Medicaid has evolved over time and now offers many benefits for providing home and community services to patients with long-term care needs, such as many of those living with Pompe. Medicaid gives each state broad discretion to cover virtually all long-term care services that people with disabilities need to live independently in both home and community settings.
Eligibility for Medicaid varies by state but in every case it is a means-tested entitlement program. For those who qualify, it provides a means for access to a wide range of medical services.
For children with Pompe requiring home nursing and who do not otherwise qualify for Medicaid, other funds may be available. The “Katie Beckett” (or “TERFA”) option is a Medicaid waiver program (http://www.cms.hhs.gov/medicaid/waivers/
) that enables states to provide Medicaid specifically for home health care expenses for disabled children and may also cover therapy services, adapted equipment, aide services, and respite care. This is an optional program for each state. Since each state sets its own rules for coverage, please visit www.cms.hhs.gov/medicaid
to review each individual state’s scope of coverage and programs. Early Intervention Services are supported by the Early Infant Program for Infants and Toddlers with Disabilities, Part C of the federal Individuals with Disabilities Act (IDEA) which coordinate and fund services for children from birth to 3 years of age (http://www.cec.sped.org/law_res/doc/law/regulations/indexPartC.php
). Other federal legislation such as the Public Law 94–142 and the Rehabilitation Act, including Section 504, insure a free public education in the least restrictive environment possible, including the provision of therapy services (PT, OT, ST) when educationally relevant, and assuring access (http://www.ed.gov/policy/speced/leg/edpicks.jhtml?src=ln
Other valuable government sources of information include the National Information Center for Children and Youth with Disabilities (NICHCY) and the Council for Exceptional Children. NICHCY is a national information and referral resource for families with disability-related issues (www.nichcy.org
). The Council for Exceptional Children (www.cec.sped.org
) is an international professional organization dedicated to improving educational outcomes for individuals with exceptionalities. Also of value to Pompe families, particularly adult Pompe patients, may be the website www.disabilityinfo.gov
. This website offers a significant collection of resources including information on housing, employment, education, income support, technology, and community support.
Other private not-for-profit organizations that provide additional potential sources of support and funding for Pompe patients include The Disabled Children’s Relief Fund (www.dcrf.com
). The DCRF focuses on helping children who do not have adequate health insurance, especially the physically challenged. It provides disabled children throughout the United States with assistive devices, rehabilitative services, and support for arts and humanities projects.
Pompe patient organizations
The International Pompe Association (IPA) is a federation of Pompe disease patient groups worldwide. It seeks to coordinate activities and to share experience and knowledge between different groups. Membership in the IPA is open to Pompe and related disease groups. As such, the IPA acts as an umbrella organization for patient organizations globally. One of the most valuable forums for Pompe patients annually is the IPA patient conference held in the Fall of each year.
In the United States, there are two primary Pompe patient support groups: the Acid Maltase Deficiency Association (AMDA) and the United Pompe Foundation. Both groups aim to broaden public awareness and knowledge of Pompe as well as to support select research initiatives at Universities. (www.amda-pompe.org