This is a fictional story. It is written from the point of view of parents of a child with an N-of-1 diagnosis. It serves as an example and is used throughout the “How-to-Guides.”
Anna Smith. D.O.B. January 1, 2001
Our daughter, Anna, is a beautiful 5-year-old girl who has been through a whirlwind of doctors, genetic testing and misdiagnosis. The doctors recently performed a test called Whole Exome Sequencing (WES), where they finally found a diagnosis for our little girl. Anna has a genetic change in her ATKM gene, which is the cause for some of her differences.
Our journey began when we were pregnant with Anna. On ultrasound, she was found to have a heart where the two arteries connected to the heart are switched, something called “Transposition of the Great Arteries.” She also had “bilateral pre-axial polydactyly” meaning she had extra thumbs on both of her hands. The doctors advised us to pursue a procedure called amniocentesis to look at the baby’s DNA. All these genetic test results came back normal. We were advised that these things could be individually surgically repaired, however since there were multiple things they saw on ultrasound, they could not give a diagnosis or predict if anything else would be different about Anna.
Once Anna was born, and her heart and hands were fixed, Anna continued to grow and develop as any other happy baby. However, during Anna’s routine 6-month checkup, the pediatrician noticed she was not sitting up on her own and became worried Anna was not meeting her milestones. We started Anna on physical and occupational therapy in hopes that this would help her with her strength, however things never seemed to get better. As of today, Anna still has never gained the full strength that would be expected of a 5-year-old. She requires braces that assist her walking, and has little control over her bowel and bladder movements, requiring diapers and full-time assistance. Anna also has intellectual disability and hearing loss, both affecting her speech and communication. Anna is able to say “Mama” and “Dada” and string together a few two-word phrases. Anna also requires a lot of assistance with her food due to her small and weak teeth. Anna also has something called “craniosynostosis” that makes her head shape appear a little different.
The really cool part about Anna that we love, but seems to stump the doctors are her dark horseshoe shaped patches on her lower abdomen. We love Anna’s little birthmarks, however the doctors say these marks are something they’ve never seen before.
Despite all she has been through, Anna is a happy little girl who loves the Little Mermaid and her puppy, Scruffy. We couldn’t imagine what our lives would be like without Anna. Anna’s smile is what makes the hardest days better and makes this all worth it. We want to find answers for our daughter. Anna has been through so much in her short life and she deserves answers. We want to figure out how to help her live life to the fullest.
We were told that by sharing her genetic information it might help us find other people like her.
This is the genetic information that our doctor gave us about Anna. Some "How-To Guides" require this genetic information in order to better find a match.
Gene: ATKM
Transcript: NM_003215
cDNA: c.125A>T
Protein Variant: p.(Asp42Val)
Chromosome: chr4
Position: 23902817
Ref Allele: T
Alt Allele: A