An Ordinary Day - Kids with Rare Genetic Conditions

Karen Haberberg

2016 - 2018

Rare genetic diseases are actually fairly common – one in 10 Americans is affected, while 95% do not have an FDA approved drug treatment.

“An Ordinary Day” displays photographs set against intimate conversations, presenting the stories of 27 courageous families living with children with rare genetic conditions. Readers will fall in love with each child while celebrating the life-affirming spirit captured in every

image. Throughout the pages, a trove of treasure is revealed, a narrative of struggles failed and battles won. These brave children include Ethan, a mute child, as he learns to make his first sound; Jonathan, a 9-year-old, as he finally is able to eat with a spoon and; Maddy, a 5- year-old, as she takes his first step after years of crawling. These are all tasks that are taken

for granted by families and children without these disorders, but are immense accomplishments and triumphs for children with rare genetic diseases.

The every day moments captured in “An Ordinary Day” hope to inspire awareness and empathy, while highlighting the commonalities between families with rare genetic conditions, and more deeply between us all.

Note: My brother died of a rare disease called Tay Sachs and inspired the project. Most of the families documented feel isolated and alone. Please help raise awareness.

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  • Ian is a fun loving boy who has MCAP and PMG, which involve the skin, connective tissue and brain causing a
    disproportionately large head and capillary malformations on the skin. Children with this condition have a difficult
    time recognizing they are satiated.

  • Wyatt, is missing a piece of his 22nd chromosome—he is nonverbal, cannot eat by mouth, and is blind in one
    eye. Two of his fingers are fused together on one hand. He has already had eight surgeries, including one openheart
    surgery. He is very tactile and enjoys staring at small things for a long time.

  • Kids with rare conditions often require the assistance of young siblings. Alejandre, age 5, holds his baby brother,
    Mohammed. Mohammed and his sister Miriam, (who is watching television) are the first African Americans
    diagnosed with NGLY1

  • Cassie’s Marfan Syndrome affects the body’s connective tissue and causes features such as long limbs, a tall thin
    body type, and a dilated aortic root. Her condition is fatal if not diagnosed in time. Despite the metal rods along
    Cassie’s spine, which prevent her from bending, she is a great swimmer.

  • Jamesy has Duchenne Muscular Dystrophy, a genetic disorder that weakens the muscles. He often sleeps in a
    hyperbaric chamber to help improve his breathing, and his dad who discovered this method, always joins him.

  • Darus has Phelan-Mcdermid syndrome he is not able to feed himself, dress himself, use the bathroom himself,
    or verbally express the way he feels. He is in near-constant motion and has little to no sense of fear or danger.
    Darus feels more comfortable in small spaces.

  • Doctors predict that Addie, who was diagnosed with a Related Intellectual Disability syndrome, will not exceed
    an IQ of 70. The genetic mutation, CTNNB1, prevents her body from making the protein necessary for neurological
    development. Addie was the 21st recorded case of this diagnosis. Addie is mostly nonverbal, not able to walk on
    her own, and is extremely farsighted. She has a feeding tube to help with her low weight and a communication
    device to help her express her needs. Addie loves to climb and bounce and is a huge fan of Mickey Mouse. Addie
    also loves to sing.

  • Emily (and her friend sititng beside her) both have Sanfilippo syndrome -- similar to Alzheimer’s but in children it
    is progressive and mainly affects the brain and spinal cord. Emily, 11, was once typical then stopped gaining skills
    and began to decline. She is no longer verbal and has gone from being fully potty trained to using diapers. She
    cannot feed or dress herself. She is considered to be around 9 months neurologically. Soon Emily will lose the
    ability to walk, eat, and swallow, and will end up on a feeding tube in a chair or bed unable to move or
    communicate. Emily’s life will end either before, or in her very early teens. There are absolutely no treatments for
    Sanfilippo syndrome.

  • After nearly a year of testing, Mackenzie was diagnosed with Tay-Sachs Disease, a terminal genetic disorder
    that progressively destroys nerve cells in the brain and spinal cord. Before her birth, her father had been
    genetically tested, but not for all the possible strains of Tay-Sachs — a mistake attributed to either carelessness by
    doctors and geneticists or the simple fact that health insurance didn’t cover the tests.

  • During a third trimester ultra sound, Clara’s parents received the news that their daughter had
    Rhabdomyomas, or benign heart tumors. Clara also has tubers growing in her brain, which causes developmental
    and language delays. In order to minimize the seizures, the speech center of her brain has been removed. It's hard
    to know what Clara understands because she cannot express herself verbally.

  • Ethan has Angelman Syndrome. Ethan will need lifelong care as a result of his condition.
    Ethan does not sleep very much, has seizures, and can get frustrated when trying to communicate. His hands
    sometimes flap and he occasionally makes unexplained noises. Despite his condition, he is a happy and loving boy
    who loves to hug.

  • After three misdiagnoses, doctors concluded that Kelly suffers from a genetic mutation known as PACS1
    syndrome. One of the symptoms is Colobomas of her eyes – pupils shaped like a cat’s eye.
    At the time of her diagnosis, there were only three or four known cases in the United States. Kelly’s extreme
    developmental delays include her inability to speak, problems with motor skills, low muscle tone, digestion issues,
    ocular abnormalities, and slow growth.

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