Episodes

Avianna started missing developmental milestones when she was a few months old. Her parents, Nancy and Daniel, decided to seek professional help for answers. Three years later, they have a diagnosis that is so rare, it doesn’t have a name. It is referred to as PPP2R5D and only 28 other people in the world have it. Never Stop Fighting for Your Child Two-month-old not reaching milestones Nancy recalled when they first started noticing that something might be wrong with their daughter Avianna. She ...

Jenna and Dan went to a prenatal ultrasound where doctors discovered their daughter Ava had micronancia, or a small recessed chin. Upon further testing, they found their daughter would be born with Pierre Robin sequence or PRS, something Jenna and Dan were already familiar with. Like Father Like Daughter Parents receive unexpected diagnosis At their 20-week ultrasound, Jenna and Dan were thrilled to learn that their baby was a girl! It wasn’t until Jenna went back to work that she received a pho...

Potocki-Shaffer syndrome is an extremely rare genetic disorder. So rare in fact that only a handful of people have been diagnosed with it. Betty, a sweet four year old, is one of those people. Her mom Sarah shared what life has been like so far caring for Betty and the challenges and joys of having her in her life. Children are More Than a Stack of Symptoms Thinking Everything is Normal At the 20-week ultrasound, Sarah was told there were a few red flags with her baby. Their doctor referred the...

Lamp was diagnosed with microgastria limb reduction complex that affected all four limbs when her mom, Miggy, went in for her 18-week ultrasound. Shocked by the unexpected news, Miggy and her husband were devastated. Now seven years later, they realize how lucky they are and how much joy Lamp has brought into their lives. Journey from fear to love An unexpected punch to the gut Hoping to find out she was expecting another girl at her 18-week ultrasound, Miggy excitedly went to her appointment. S...

Krissy was 10 months old when her mom Ann started noticing she couldn’t do typical things for children her age. Krissy was later diagnosed with ataxic cerebral palsy with a seizure disorder. Ann has since been a tireless advocate for Krissy and even started a post-high school program in her state. Krissy lived for 33 years and passed away 11 years ago. Ann shares what a joy she was in her family and her life. Never Giving Up 10-month-old missing milestones Ann arranged for a photographer to come...

Jessica and her husband were shocked to learn that their daughter, Eliana, was born with a cleft palate. A few days later they discovered she had some other abnormalities. She was diagnosed with Pierre Robin sequence. Bearing the Burden Unexpected diagnosis Jessica required a c-section for the birth of Eliana. After she was born, the nurses were examining her and discovered she had a cleft palate. Jessica recalled, “One of the nurses came over to me because I was still on the operating table, a...

Ileana and Lorenzo were told at their 20-week ultrasound that their daughter, Giselle, had some abnormalities with her brain. They were given the option of abortion but refused. Now three years later, Giselle has been diagnosed with microcephaly and cerebral palsy. They both agree that Giselle is a blessing and joy in their life. Life Doesn’t Have to be Perfect to be Amazing 20-Week Ultrasound Reveals Brain Abnormalities Ileana and Lorenzo were excited when they found out they were expecting a b...

When doctors first told Leslie that her daughter was measuring small, she didn’t put too much thought into it. She was told the same thing with her son, who was born perfectly healthy. However, after seeing a different doctor, he told her that her daughter would be born with achondroplasia, a form of dwarfism. Leslie shared her struggles with coming to term with the diagnosis and now 4 years later, what a blessing Lilah is. Devastation Turns to Happiness and Joy Blowing off doctor’s findings Wit...

After learning their son had some markers for a genetic condition in utero, Bijan and Zach were offered to abort one of their twin boys. They declined the offer and also declined in utero testing. Jackson was diagnosed with 22q11.2 deletion or DiGeorge syndrome. Three years later, their other son Walker was recently diagnosed with autism. Twins Boys Diagnosed With Two Different Disorders Complications result in abortion advice During her pregnancy, Bijan said, “I was having many complications.” ...

When Maria received the news that her daughter, Serenity Grace, had Trisomy 18 or Edwards syndrome, she was strongly encouraged to abort. Instead Maria moved closer to find better resources that would suit the needs of her delivery. She shared her journey and fears as she anticipates the delivery of Serenity in three weeks. Choosing Life Despite a Fatal Diagnosis Receiving an early diagnosis Maria explained that due to her age, her doctors wanted to do cell DNA testing on her baby. At 10-weeks, ...

Sasha and Gary were surprised to learn that their daughter Zoey was diagnosed with Down syndrome in utero. They were given an option to terminate the pregnancy. Feeling like everyone has issues, they continued with the pregnancy. Several years later, Zoey has had such a positive impact on their lives they are in the process of adopting a girl from China with Down syndrome. Everyone Has Issues Ultrasound Reveals Daughter Has Two Abnormalities Expecting to only find out the gender of their fourth ...

Ethan lived for 93 minutes. He is one of the only babies to be born alive with full Trisomy 9. His parents, Kristin and Chris were offered several times to abort Ethan. They decided to carry to term and are happy they chose life and got to meet him. His life has had a profound impact on their family and community. Defying Medical Odds Meeting with a geneticist At their 20-week ultrasound Kristin and Chris were excited to find out the gender of their baby. Looking back on the experience, Kristin ...

Tamara and Matthew received an unexpected test result when trying to determine the gender of their baby early in their pregnancy. Their son has a 93% chance of having Down syndrome. In their interview, they speak of their fears and struggles on coming to terms with the results Unexpected News Finding out the gender of their baby When Tamara was 10 weeks pregnant, her doctor offered a NIPT test to determine the gender of their baby. Tamara recalled, “..she kind of glanced over the fact that it wa...

When Spencer was less than 24-hours old, he had surgery to fix an issue with his esophagus. It was the beginning of a medical journey that would eventually lead to the diagnosis of CHARGE syndrome. Now at 17 he is attending high school and taking concurrent enrollment classes at a local college. Proving that you are more than your diagnosis. Diagnosis Doesn’t Define Who He Is Newborn requires surgery A few hours after he was born, it was discovered that Spencer had a tracheoesophageal fistula or...

Katie and Nathan’s daughter, Claire, was diagnosed with a rare fatal condition called Rhizomelic chondrodysplasia punctata or RCDP. Even though Claire’s life expectancy is unknown, Katie and Nathan love spending time with her and have found joy with her diagnosis. Loving Your Child No Matter What Diagnosis is Rare and Fatal “At my 20-week ultrasound, we found out Claire was a girl, and then they said that her arms were measuring a little shorter and suggested we come in for a follow-up appointme...

After unsuccessfully trying for five years to get pregnant, Terah and Brian turned to in vitro fertilization. During their second round, they found out Terah was pregnant. An hour after Indy was born, she was diagnosed with Down syndrome. They were devastated. They shared how they came to terms with her diagnoses and how she had impacted their life for good. From Devastation to Bliss Declining genetic screening Terah and Brian were unable to get pregnant for five years. They decided to try in vi...

Erika was given a very grim diagnosis when she was six months pregnant. Her daughter, Erilyn was diagnosed with microcephaly. She was very pressured to abort Erilyn. Now eight years later, Erika is grateful she chose life and can see that Erilyn is a blessing and brings joy to everyone she meets. Nothing Like the Doctors Predicted Pressured to abort at six months pregnant During a routine ultrasound when she was six months pregnant. Erika was told that her baby’s head and brain were measuring sm...

Ellie is a delightful three year old with Aicardi and Turner’s syndrome. Her parents, Tiffany and Nathan talk about what a joy Ellie is to their family and how she has impacted their lives for good. More Than a Diagnosis 20-Week Ultrasound The 20-week ultrasound is usually when families discover abnormalities with their unborn babies. Tiffany and Nathan were no exception. Tiffany recalls, “For her 20-week ultrasound, we went in typically excited to find out the gender. I didn’t think anything c...

As young, college students, having a child with a disability wasn’t on their radar. Alyssa and Ben were shocked when they learned at their 23-week anatomy scan that their son, Will, had some brain abnormalities. They were heavily encouraged to abort their son. He has defied doctor’s limited predictions and is a joy to have in their lives. Every Baby Deserves a Chance Finding out your son is going to be different Alyssa recalled the moment they first found out that their son, Will, was going to b...

After struggling to get pregnant, Traci and Mike were very excited when they found out they were expecting twin boys. During one of their ultrasound they found some abnormalities in one of the twin’s brains. They also found a cleft palate and cleft lip. Unsure how the other twin was affected, they were encouraged to abort both babies. Five years later they share the struggles and joys of raising a child with semilobar holoprosencephaly. Trials That Bring Happiness One of the Twins has Abnormali...

Sarah learned that one of the identical twins she was carrying had hydrocephalus during a routine ultrasound. After Isabella was born, it was discovered that she had several other issues. Isabella has endured many surgeries and will have several more. Despite that, she brings a calming presence to her home. The Little Girl with Something Special One of the twins has hydrocephalus Sarah explained the first time she learned that one of her identical twin girls was going to be born different. She s...

Jim is 51 years old and has Down syndrome. He lives with his mom Shirlene who at the time of his diagnosis had never met anyone with Down syndrome. At first, she was devastated. She now knows how grateful she is that Jim came into her life. Loving Your Child With Down Syndrome Finding out a few days later Shirlene and her husband had never met anyone with Down syndrome. Shirlene recalls, “Well I was totally ignorant in the first place. I didn’t know what the doctor was talking about. I had never...

Krystal and Dusty were scared and hurt when they first learned that their daughter, Amnesty, had spina bifida and a heart defect. They were repeatedly encouraged to abort Amnesty and are grateful everyday they chose life. She is a great joy to their family and shares her story to help others choose life as well. Using Daughters Diagnosis to Inspire Others Being pressured to abort your baby Early on in their pregnancy Krystal and Dusty were told that their daughter, Amnesty’s, spine hadn’t formed...

Miriellys and Alex have two children. Their youngest, Aerilyn, was diagnosed with Trisomy 13 or Patau syndrome in utero. They were encouraged to terminate their pregnancy and were given a grim prognosis. They chose not to listen to their doctor and to give Aerilyn a fighting chance. Now, 3 years later, they wouldn’t change anything. Aerilyn is a joy and a blessing to their lives. Trusting in Your Baby Finding Out More Than the Gender Going into her anatomy scan, Miriellys was convinced her baby ...