Immediately following his daughter’s birth, the doctor told them she suspected their baby girl had Down syndrome.
Diagnosis: Latest Post
Erick: Down syndrome
Erick found out shortly after birth that his daughter Erika has Down syndrome. Erick believes that Erika has made him a better, more patient person and parent. Finding out your daughter has Down syndrome Erick didn’t find out about her diagnosis until after she was...
Diagnosis
Daniel: Menkes Disease
After Lucas missed milestones around nine months old, they sought help. They were told to see a geneticist who thought because of Lucas’ unique hair texture that he had a copper related disorder.
Brittney and Derik
Brittney and Derik share what SHINE syndrome is and how it has made an impact in their life. Their daughter has been a joy in their life despite some of the difficulties that come when having a child with SHINE syndrome.
Wendy and Matt: Down syndrome
When Matt was only 3 hours old, Wendy was told he had Down syndrome. When we asked her how she felt receiving that news she told us, “I think I every emotion known, I was going through. I experienced shock, fear, trauma, devastation, anger. I thought, what did I do? Why me? I was afraid that my life had just been ruined’
Madison and Ty: Expecting a Terminal Baby
During a routine ultrasound, Madison and Ty found there was something was wrong with their baby boy. When they went to the specialist, they were told their baby’s bladder was large, and his kidneys were covered in cysts and had little to no function- a condition that...
Rebekah: A Brother with Asperger’s
Erika and Steve: Autism
First signs something was wrong Erika and Steve first noticed something was different with their son Blaise when he was 18 months old. Erika recalled, “He went to daycare and we would go in and notice that all the kids are playing in one area and he's over to an area...
Kristy and Andrew: Pfeiffer Syndrome
utero something was wrong and were candid about their worries and stress. When Hadley was born all of that changed.
Mariah: THAP12 Mutation
for good. She is a fierce advocate by paving the way for future research to help others who may receive the same diagnosis.
Regan: Goldenhar Syndrome
Matthew has three very rare abnormalities. He has been diagnosed with Goldenhar syndrome, agenesis of the corpus callosum, and an extra copy of his 78N22 chromosome. Now at 12 years old, Regan, Matthew’s mom, shares her experience with Matthew so far.
Danielle: DDX3X syndrome
Dani and her family fought hard to receive an official diagnosis for her daughter Hayden. After many specialists they finally received a diagnosis of DDX3X. So rare that there that at that time there were less than 500 people that have ever been diagnosed with this genetic deletion.
