All states have a variety of resources for patients, parents and/or caregivers. We have provided Alabama and National entities that we have been connected to or found otherwise. Call the GARD Information Center at 1-888-205-2331 to speak to an information specialist about rare or genetic diseases in English or Spanish.
KNOW THE FACTS!
HELP US BRING AWARENESS
Alabama Institute for the Deaf and Blind (AIDB)
They provide comprehensive education and service programs to children and adults who are deaf, blind, deaf-blind, and multi-disabled and their families.
AIBD was able to provide in-home physical therapy for Austin until the age of 3.
Alabama Rare Disease Advisory Council
Alabama Governor Kay Ivey established the Alabama Rare Disease Advisory Council in 2017 to serve as an advisory body to the governor and the Alabama Legislature. Our focus is on research, diagnosis, treatment, and education regarding rare diseases and their economic impact on the state. Our Council comprises 17 members representing distinct areas of expertise in medicine, research, advocacy, and government policy. The governor nominates each member to fulfill a three-year term of service.
The Alabama HIPP Program is designed to save money for Medicaid families with high health care costs by eliminating most out-of-pocket medical expenses for qualifying Medicaid recipients.
A grassroots organization focused on uniting the rare disease population in Alabama.
They also advocate for necessary changes to improve healthcare delivery, which is something that is very important.
Children's of Alabama
This is where we see all of Austin's specialists. Remember all facilities should have a patient care coordinator or patient advocate. These individuals should be able to assist in concerns you feel aren't being addressed and making the hospital stays as easy as possible.
Children's Rehabilitation Services - Opelika
CRS is an entity Austin still utilizes. They are a statewide organization of skilled professionals providing quality medical, rehabilitative, and educational support for children with special health care needs and their families.
Early Intervention Program
AEIS provides supports and services for infants and toddlers birth through age 2 (0 to 36 months of age) who have a medical diagnosis that can delay normal development or who have a developmental delay causing the child to not meet developmental milestones.
Family Voices of Alabama
Family Voices of Alabama (FV of AL) aims to achieve family-centered care for all children and youth with special health care needs and/or disabilities.
Medicaid Elderly & Disabled Waiver Program
Medicaid Waivers help provide services to people who would otherwise be in a nursing home or hospital to receive long-term care in the community. They focus on people with intellectual disabilities, developmental disabilities, and autism.
This is a service that Austin receives and helps our family tremendously. Priority HealthCare‘s Mission to make sure that each and every one of our clients receive the best quality of care possible. Providing in-home nursing care to special needs children is our Priority. Located in Mississippi but with a Birmingham based location that serves Alabama. Alabama based Priority HealthCare Facebook page.
Private Duty Nursing Agencies
Private duty nursing services are in most cases provided to recipients who have medical problems that require education of the primary caregiver and the stabilization of the recipient’s medical problem or problems. Austin 1st CANNOT provide or grant eligibility for these services. Below, is a list of provided agencies in Alabama that provide PDN care through Medicaid, etc.
STAR Alabama's Assistive Technology Resource - By AIDB
STAR, Alabama’s Assistive Technology Act program, is administered through the Alabama Department of Rehabilitation Services and is federally funded by the Rehabilitation Services Administration (RSA) under the Assistive Technology Act of 1998, as amended in 2004 (P.L. 108-364). The Alabama AT Reuse Network, currently a collaborative partnership of six (6) community-based programs, receives and distributes donated AT and medical equipment "free of charge" statewide. To access the online equipment database CLICK HERE.
The Learning Tree
The Learning Tree, Inc. exists to provide a warm and loving environment with individualized, empirically validated services and supports to persons with significant educational, medical, and behavioral challenges; helping them develop and maintain a quality of life expected by non-disabled members of their family and community. The Little HAPIE Tree Preschool Auburn at Auburn Early Education Center was an amazing preschool for Austin. We are forever grateful to everyone at HAPIE.
UAB - Undiagnosed Disease Program
UAB Medicine’s Undiagnosed Diseases Program (UDP) evaluates and cares for patients who have a severe, chronic medical condition that has not been diagnosed despite extensive efforts by other physicians. The wonderful doctors and support staff of UAB Genetics played a part in diagnosing Austin within half the time of the average person with a rare disease.
Whole Exam Sequencing Test
Most of the genetic variants that cause genetic disease are found in the exome. WES test looks at the genetic information contained in all 20,000 genes (and their multiple exons) in one single test. This is different from other genetic tests that may look at only one gene (or a handful of genes) at a time. Cincinnati Children's Hospital has a good FAQ section on their website that is linked below.
This website will provide a variety of resources as well as updated facts about rare diseases.
Rare Disease Network
Made up of several researchers that work together in improving the availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community.
Rare Disease Legislative Advocates
Rare Disease Legislative Advocates is a program of the EveryLife Foundation for Rare Diseases designed to support the advocacy of all rare disease patients and organizations.
National Organization for Rare Disorders
NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. Check out the NORD series on gene therapy here.
The First Hand Foundation
Vision: A world where children and families achieve their full health potential
Mission: To improve the health of individuals through innovative models
Undiagnosed Disease Network
The Undiagnosed Diseases Network (UDN) is a research study that is funded by the National Institutes of Health Common Fund. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.
Voters For Cures
Voters For Cures is the leading voice for patients and those who care for them.
OTHER HELPFUL RESOURCES & TIPS
Trach Pads - After Austin got his Trach, we had to use a specific pad around his stoma site (opening in neck) to protect it called Mepilex, which had a sticky back but didn't always stay on well. Once the site healed we didn't want to use the split gauze provided by the medical company so we started using Trach pads. These are very helpful with any secretions that may come out of the stoma, stays in place well, and can be used for more than one day at a time.
This is the Etsy shop that we purchase all of Austin's Trach Pads from.
Bandana bibs have also been very useful with catching secretions while he is using the mist collar. When we weren't using them his shirt would get wet very fast and if we didn't change his shirt quick enough it would cause his chest to break out.
You can get bandana bibs several places but we've found the most variety on Amazon.
VitalStim was a key part of Austin's speech therapy that allowed him to eat solid foods for as long as possible when he was younger and more importantly improved and prevented silent aspiration. More information on vital stem can be found here.
You can find certified vital stim therapists by searching the VitalStim registry.