Why might I or a family member want to be a patient?
You or your family member may have a medical condition that has eluded diagnosis despite considerable effort, and your physician believes that your condition may have an underlying genetic cause. In some cases, whole genome sequencing or another genetic test may be a useful tool to find the answer to the most puzzling questions.
You may also consider becoming a patient if you are taking common medications that may have genetic interactions, want to know more about your genetic risk of developing certain diseases or passing on genetic disorders to biological children, are interested in receiving genetic counseling for a disease that has already been diagnosed or in discussing family health history, or are curious about elective genetic testing.
How does an individual get accepted as a patient?
Patients seeking a diagnosis can have a consultation requested by their physician or contact the clinic directly to start the process at 256.327.9640. Before an appointment can be scheduled, we will gather important information from the patient and their previous medical history. The clinic team will review this information, and potential patients will be notified.
For patients not seeking a medical diagnosis, a physician referral is not required, though your previous medical history may be requested. To start the process, contact the clinic directly at 256.327.9640.
Am I eligible for the Hero Fund?
Contact the clinic directly to see about eligibility at 256.327.9640. This information will be reviewed by the clinic team, and potential patients will be notified.
If you are seeking help for a rare disease, below is the list of organizations that are members of the National Organization for Rare Disorders (NORD). If the disease or advocacy group you are interested in is not on the list provided, feel free to contact us 256-327-9640 to ask if we are familiar with the disease/organization of interest to you.
Achalasia
Martin Mueller IV Achalasia Awareness Foundation
Acid Maltese Deficiency
Acid Maltase Deficiency Association (AMDA)
Acromegaly
Adult Polyglucosan Body Disease
Adult Polyglucosan Body Disease Research Foundation
AKU
Adrenal Diseases
National Adrenal Diseases Foundation
Alagille Syndrome
Albinism
National Organization for Albinism and Hypopigmentation, NOAH
Alopecia Areata
National Alopecia Areata Foundation
Alpha 1
Alport Syndrome
Alternating Hemiplegia of Childhood
Alternating Hemiplegia of Childhood Foundation
Amyloid Lateral Sclerosis
ALS Association-Greater Philadelphia Chapter
Les Turner ALS Foundation, Ltd.
Amyloidosis
Amyloidosis Support Groups, Inc
Aplastic Anemia
Aplastic Anemia & MDS International Foundation, Inc.
Ataxia-Telangiectasia
Autoimmune Diseases
American Autoimmune Related Diseases Association, Inc.
Autoinflammatory Diseases
B
Basal Cell Carcinoma Nevus Syndrome
Basal Cell Carcinoma Nevus Syndrome Life Support Network
Batten Disease
Batten Disease Support and Research Association
Behcet’s Disease
American Behcet’s Disease Association
Benign Essential Blepharospasm
Benign Essential Blepharospasm Research Foundation, Inc.
Bile Acid Deficiency
Council for Bile Acid Deficiency Diseases
Blindness (rare forms)
Brain Tumor
American Brain Tumor Association
C
CC4C Champions for Children
cc4c.org
Cadasil
Cancer (pediatric)
Cancer (rare forms)
Rare Cancer Research Foundation
Carcinoid Cancer
Caring for Carcinoid Foundation
Cardiofaciocutaneous Syndrome
Cardio-Facio-Cutaneous International
Cardiomyopathy (pediatric)
Children’s Cardiomyopathy Foundation
CDKL5
International Foundation for CDKL5 Research
Charlot-Marie-Tooth Disease
Charcot-Marie-Tooth Association
Cholangiocarcinoma
Chronic Fatigue Syndrome
Clostridium Septicum
Craniofacial Disorders
American Cleft Palate-Craniofacial Association
Children’s Craniofacial Association
Chromosome Disorders
Chromosome 18 Registry & Research Society
Chromosome Disorder Outreach, Inc.
Chronic Granulomatous Disease
Chronic Granulomatous Disease Association
Cicatricial Alopecia
Cicatricial Alopecia Research Foundation
CLOVES Syndrome
Coats Disease
Jack McGovern Coats Disease Foundation
Congenital Central Hypoventilation Syndrome
Congenital Diaphragmatic Hernia
Congenital Hyperinsulinism
Congenital Hyperinsulinism International
Cornelia de Lange Syndrome
Cornelia de Lange Syndrome Foundation, Inc.
Corticobasal Degeneration
CurePSP Foundation for PSP/CBD & Related Brain Diseases
Creatine Deficiencies
Association for Creatine Deficiencies
Cushing’s Disease
Cushing Support & Research Foundation
Cutaneous Lymphoma
Cutis Laxa
Cutis Marmorata Telangiectatica Congenita
Cutis Marmorata Telangiectatica Congenita
Cystic Fibrosis
Cystinosis
D
Dercum’s Disease
Fat Disorders Research Society, Inc
Desmoid Tumors
Desmoid Tumor Research Foundation
Dravet Syndrome
Duchenne Muscular Dystrophy
Parent Project Muscular Dystrophy
Dysautonomia
Dystonia
Dystonia Medical Research Foundation
Dup15q
E
Ectodermal Dysplasia
National Foundation for Ectodermal Dysplasias
Eosinophilia-Myalgia Syndrome
National Eosinophilia-Myalgia Syndrome Network
Ehlers-Danlos Syndrome
Ehlers-Danlos National Foundation
Ehlers-Danlos Syndrome Network C.A.R.E.S Inc.
Enterocolitis
International Association for Food Protein Enterocolitis
Eosinophilic Disorders
American Partnership for Eosinophilic Disorders
Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA)
Erdheim-Chester Disease
Erthromelalgia
F
Fibrodysplasia Ossificans Progressiva
International Fibrodysplasia Ossificans Progressiva Association
Fibromuscular Dysplasia
Fibromuscular Dysplasia Society of America
Fibrous Dysplasia
Fibrous Dysplasia Foundation, Inc.
Fragile X Syndrome
Friedreich’s Ataxia
Friedreich’s Ataxia Research Alliance
Freeman-Sheldon Syndrome
Freeman-Sheldon Research Group, Inc.
Frontotemporal Degeneration
Association for Frontotemporal Degeneration
G
Gastointestinal Motility Disorders (rare)
Association of Gastrointestinal Motility Disorders, Inc.
Gastrointestinal Stromal Tumors
Glycogen Storage Disease
Association for Glycogen Storage Disease
International Advocate for Glycoprotein Storage Diseases
Guillain-Barré syndrome
GBS/CIDP Foundation International
H
Hemophilia
Hemophilia Federation of America
National Hemophilia Foundation
Hereditary Angioedema
US Hereditary Angioedema Association
Hereditary Hemorrhagic Telangiectasia
Hereditary Hemorrhagic Telangiectasia Foundation International, Inc
Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer Family Alliance
Hereditary Neuropathy
Hereditary Neuropathy Foundation
Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome Network Inc.
Histiocytosis
Histiocytosis Association of America
Huntington’s Disease
Huntington’s Disease Society of America
Huntington’s Disease Youth Organization
Hydrocephalus
Pediatric Hydrocephalus Foundation
Hypoparathyroidism
Hypoparathyroidism Association, Inc.
Hypophosphatasia
Hypothalamic Hamartoma
Hope for Hypothalamic Hamartomas
I
Ichthyosis
Foundation for Ichthyosis & Related Skin Types
Incontinentia Pigmenti
Incontinentia Pigmenti International Foundation
Intractable Childhood Epilepsy
Intractable Childhood Epilepsy Alliance
Iron Disorders (rare)
J
Juvenile Myelomonocytic Leukemia
Juvenile Myositis
K
Kennedy’s Disease
Kidney Disease (rare forms)
Klippel-Trenaunay Syndrome
Klippel-Trenaunay Support Group
L
Leukodystrophy
United Leukodystrophy Foundation
Lipedema
Fat Disorders Research Society, Inc
Lipomatosis (familial multiple)
Fat Disorders Research Society, Inc
Lowe Syndrome
Lymphangiomatosis
Lymphangiomatosis & Gorham’s Disease Alliance, Inc.
Lymphatic Malformations
Lymphedema
Lysosomal Acid Lipase Deficiency
M
Macrocephaly-Capillary Malformation
Madelung’s Disease
Fat Disorders Research Society, Inc
Marfan Syndrome
Maple Syrup Urine Disease
Mastocytosis
Melorheostosis
Mesothelioma
Mesothelioma Applied Research Foundation
Mesothelioma Prognosis Network
Metabolic Diseases
CLIMB: Children Living with Inherited Metabolic Diseases
Metachromatic Leukodystrophy
Mitochondrial Disease
United Mitochondrial Disease Foundation
Moebius Syndrome
Mucolipidosis Type IV
MPS (Mucopolysaccharidoses)
Multiple Endocrine Neoplasia
American Multiple Endocrine Neoplasia Support Hageman Foundation
Multiple Sclerosis
Consortium of Multiple Sclerosis Centers
Myalgic Encephalomyelitis
Wisconsin Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Association, Inc
Myasthenia Gravis
Myasthenia Gravis Foundation of America
Myelofibrosis
Multiple Myeloma
International Myeloma Foundation
Myocarditis
Myositis
Myotonic Dystrophy
Myotubular Myopathy
N
Narcolepsy
Necrotizing Enterocolitis
Neimann-Pick Disease
National Niemann-Pick Disease Foundation, Inc.
Neurodegeneration with Brain Iron Accumulation
Neurofibromatosis
Neuromyelitis Optica
Guthy-Jackson Charitable Foundation
NGLY1 Deficient
O
Ocular Melanoma
Organic Acidemia Metabolic Disorder
Osteogenesis Imperfecta
Osteogenesis Imperfecta Foundation
Oxalosis
Oxalosis and Hyperoxaluria Foundation
P
Paget’s Disease
Paget Foundation for Paget’s Disease of Bone and Related Disorders
Pancreatic Cancer
Pancreatic Cancer Action Network
Parkinson Disease (rare forms)
Pemphigus/Pemphigoid
International Pemphigus Pemphigoid Foundation
Peroxisomal Disorders
Global Foundation for Peroxisomal Disorders
Phelan-McDermid Syndrome
Phelan-McDermid Syndrome Foundation
Phenylketonuria
Polycystic Kidney Disease
Platelet Disorders
Platelet Disorder Support Association
Porphyria
Prader-Willi Syndrome
Prader-Willi Syndrome Association (USA)
Primary Ciliary Dyskinesia
Primary Immunodeficiency Diseases
Primary Sclerosing Cholangitis
Progressive Supranuclear Palsy/Corticobasal Degeneration
CurePSP Foundation for PSP/CBD & Related Brain Diseases
Pseudomyxoma Peritonei
PTEN Hamartoma Tumor Syndrome
Pulmonary Fibrosis
Coalition for Pulmonary Fibrosis
Pulmonary Hypertension
Pulmonary Hypertension Association
Pulmonary Nontuberculous Myobacterial Disease
R
RASopathies
Rare Disease Advocacy Organizations
Recurrent Respiratory Papillomatosis
Recurrent Respiratory Papillomatosis Foundation
Reflex Sympathetic Dystrophy Syndrome
Reflex Sympathetic Dystrophy Association of America
Rett Syndrome
International Rett Syndrome Foundation
Rhambomyosarcoma
Rothmund-Thomson Syndrome
Rothmund-Thomson Syndrome Foundation
S
Sanfilippo Syndrome
Sarcoidosis
Sarcoid Networking Association
Sarcoma
Scleroderma
Scleroderma Research Foundation
Short Bowel Syndrome
Short Bowel Syndrome Foundation, Inc.
Shwachman-Diamond Syndrome
Shwachman-Diamond Syndrome Foundation
SLC13AS Deficiency
Smith-Magenis Syndrome
Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS)
Snyder-Robinson Syndrome
Sotos Syndrome
Sotos Syndrome Support Association
Spasmodic Dysphonia
National Spasmodic Dysphonia Association
Spasmodic Torticollis
National Spasmodic Torticollis Association
Spastic Paraplegia
Spinal Muscular Atrophy
Children with Spinal Muscular Atrophy Ukraine
Families of Spinal Muscular Atrophy
Succinic Semialdehyde Dehydrogenase Deficiency
Sudden Unexplained Death in Childhood
Stevens Johnson Syndrome
Stevens Johnson Syndrome Foundation and Support Group
Sturge-Weber Syndrome
Syncope (rare forms)
Syncope Trust and Reflex Anoxic Seizures (STARS)
Syringomyelia
American Syringomyelia & Chiari Alliance Project
Worldwide Syringomyelia & Chiari Task Force
T
Tarlov Cyst Disease
Tarlov Cyst Disease Foundation
Tay-Sachs Disease
National Tay-Sachs and Allied Diseases Association
Tourette Syndrome (pediatric)
Tourette Syndrome Association, Inc.
Trimethylaminuria
Trigeminal Autonomic Cephalgia and Migraine
Cluster Headache Support Group Inc
Trigeminal Neuralgia
TNA – The Facial Pain Association
Tuberous Sclerosis
Turner Syndrome
Turner Syndrome Society of the United States
U
Urea Cycle Disorders
National Urea Cycle Disorders Foundation
V
Vasculitis
