This section contains articles on specific congenital, chromosomal, or genetic conditions, as well as articles on the diagnostic process and being undiagnosed.
General and Undiagnosed
- Fighting for Answers
- From Rare to Extraordinarily Rare in an Everyday Kind of Life
- Being Okay with No Answers
- Blur: Inside My Life as the Parent of a Child with a Rare Disease
- Wanting Answers but Living with Uncertainty
- Caring for Zebras
- Neuromuscular Disorders of Unknown Etiology: Now What?
- Family Planning with a Child Who is Medically Complex: Questions to Ponder
- A Life with Few Answers: Questioning in Rare Diseases
- When Your Child Isn’t Just Rare But Probably One of a Kind
- Dying from Nothing: When You Never Get Answers
- GEMSS: Genetic Education Materials for School Success
- Rare Disease Day
- A Rare Disease – What’s in a Name?
- Two Siblings Born With Isovaleric Acidemia: One Caught by Newborn Screening, One Wasn’t
- Flipping a Coin
- Beyond Wanting to Know: Thoughts on Pursuing a Genetic Diagnosis
- Genetic Testing in Children: Navigating the System
- One Family’s Genetics Journey
Specific Conditions
- Painting Her in Color (cystic fibrosis)
- Communities of Grieving (Canavan)
- Creating a Brighter Future for Children like Cedar with PFIC
- Extremely Rare: When Rare Becomes Reality with Nonketotic Hyperglycinemia
- A Surprise Meeting with Juvenile Myoclonic Epilepsy
- Addison’s Decline from a UBTF Gene Mutation
- Pregnant with a Diagnosis: The Birth of a Mama Bear
- Someone Like Me: Oto-Palatal-Digital Syndrome
- From Rare to Extraordinarily Rare in an Everyday Kind of Life
- Born with Half a Brain
- Finding the Sunshine through Trisomy 14 Mosaicism
- Neonatal Alloimmune Thrombocytopenia and Brain Malformations
- Surviving Ants in the Bathtub: Living with PANS
- Congenital Heart Disease: A Heart’s Journey into a Lifelong Medical Wilderness
- The Unfixable Heart Defect: Confronting Life Expectancy
- Heart Rates in Kids with Complex Medical Conditions
- Skyelah’s Story: Living with Muckle Wells Syndrome
- Rueben’s Story: Rare Multiple Autoimmune Diseases
- Anna Changed Us All: Having a Sister with Down Syndrome
- Dual Rare Diagnoses: Maple Syrup Urine Disease and Cystic Fibrosis
- Living the Joy in the SLOS Journey
- Balancing Life With SMA
- My Long-Term Survivors: Rhizomelic Chondrodysplasia Punctata (RCDP)
- Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
- One in a Million Kid: HSAN Type 2
- Riding the Waves of a Genetic Muscle Condition
- Nicholas’ Experience with West Syndrome: Infantile Spasms from a CDKL5 Disorder
- Treatment Options in Cystic Fibrosis
- GEMSS: Genetic Education Materials for School Success
- Our Dandy-Walker Life
- Individuality: Living with Turner Syndrome
- In Search of a Diagnosis: Cerebral Folate Deficiency
- An Unknown Overgrowth Syndrome
- Ella’s Grace: Microcephalic Osteodysplastic Primordial Dwarfism Type I
- Ohdo Syndrome
- FOXG1 Gene Disorder
- Alport Syndrome
- A Perfect Poop: Imperforate Anus
- Personal Advocacy Channeled Outward: The Cute Syndrome Foundation
- Two Siblings Born With Isovaleric Acidemia: One Caught by Newborn Screening, One Wasn’t
- Our Journey with Proteus Syndrome: The Condition of “Elephant Man”
- Living Life with Congenital Central Hypoventilation Syndrome
- Williams Syndrome: Creating a Family of Hope
- Mom Knows Best: A Journey to Cystic Fibrosis
- Up with Down Syndrome
- Flipping a Coin
- A Family’s Journey Toward a Mitochondrial Disease Diagnosis through Genetic Testing
- One Family’s Genetics Journey
- What You See and What You Don’t: Diagnosing Niemann Pick, Type C
Articles from the Archives
These articles from the archives have not yet been transferred from our old website. They will open in a new window.
- The Thorny Issue of “Undiagnosed”
- The NIH Undiagnosed Diseases Program: Diagnosing Rare Diseases
- The Global Genes Project: All Kids Deserve to Have Hope for a Cure!
- Patent Law and Children with Genetic Mutations
- VACTERL Association
- Imperforate Anus–What!?
- Sibling Stories
- Dysautonomia: A Minor Inconvenience Becomes a Devastating Disease
- Cystic Fibrosis? When Doctors Disagree on the Diagnosis
- NEHI: A Rare Diagnosis after Misdiagnosis
- Hypospadias Diagnosis and Repair
- You Don’t Have to Yell: Handling Inappropriate Comments craniofacial differences
- Pediatric Neurotransmitter Diseases
- PHACE Syndrome
- Joshua’s Journey with Shwachman-Diamond Syndrome
- Bone Conduction Hearing Aids: An Option for Children with Conductive Hearing Loss craniofacial differences
- From the Heart! Maggie’s Experience with Rett Syndrome
- The Last Nap for a Sleepless Child Rubinstein-Taybi Syndrome
- Looking Normal
- The Pregnancy Journal of a Mito Mom
- Introduction to Mitochondrial Disorders and Mito Resources
- Symptoms of Mito: A Surprisingly Short List
- Diagnosing Mitochondrial Disorder: Our Journey through the Genetic Jungle
- Mito Plus: One Family’s Experience with Mito, Autism, and Eosinophilic Disease
- What on Earth is the Autonomic Nervous System? Dysautonomia and Autonomic Dysfunction
- Autonomic Events and Crises: An Underdiagnosed Cause of Discomfort
- Cardiac Issues Due to Autonomic Dysfunction
- A Break from Mito
- Life After Mito
- “I So Tired”
- Avoiding Erroneous Munchausen Syndrome By Proxy Allegations
- Unusual Presentations of Mitochondrial Disease
- Taking Mito to School
- Teens and Mitochondrial Disease