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.