Inspiring life despite a diagnosis

Jace was seven years old when he was diagnosed with Cockayne syndrome type one, which is a very rare genetic condition, and is fatal. His mother, Valorie, became his champion and has started a non-profit organization called Team Jace to help other families walking the path of having a child with disabilities. Cockayne Syndrome: A Rare Genetic Condition   Getting a Diagnosis “Type one childre...

Nathan has a twin brother, Nick, who has MPS or mucopolysaccharidoses, type 2. He shares his story as a sibling with a brother who has a disability. A Sibling Story What is MPS? “My brother Nick has something called MPS or mucopolysaccharidoses, type 2. MPS is a lysosomal storage disorder, a genetic condition that only affects boys,” said Nathan. Nick is missing an enzyme that breaks d...

Summer found out during an ultrasound at 20 weeks gestation that her son, Aires, had anencephaly and if he made it to term and was born, he would only live a few hours. Summer and her husband opted to have their son and to cherish him for as long as he lived.   Anencephaly: A Journey of Love   The doctor came in and his eyes were full of tears Summer had taken her two other children with...

After Brenna was born, Courtney and her husband found out Brenna had Harlequin ichthyosis , a rare genetic condition affecting the skin. Harlequin Ichthyosis: A Journey of Love Baby is born a month early Brenna was born about a month early, just before Christmas. “When she was born, the doctor placed her on my chest like they usually do, and there was this shocked silence in the room,”...

At their 20-week ultrasound Brittany and Tyler found out their son would be born with multiple medical issues including hydrocephalus , encephalocele and amniotic band syndrome . Gaining a Grander Perspective Parents are excited about their 20-week ultrasound Brittany and Tyler were looking forward to their 20-week ultrasound. They had an ultrasound at 16 weeks and found out they were having a boy...

Will is the youngest of four children. His older sister has Down syndrome and he has two brothers on opposite ends of the autism spectrum. This has given him a unique perspective on people with disabilities. A Sibling Story: A Unique Perspective “All Three of My Older Siblings Have Disabilities” Will is the youngest of four children and all three of his older siblings have disabilities...

Maria and Brandon discovered during an ultrasound that their unborn son had a cleft palate . A more detailed ultrasound and genetic testing revealed their son has chromosome deletion 9Q . Chromosome Deletion 9Q: A Very Rare Condition Being unique in the world At an ultrasound performed at 12 weeks gestation, Maria found out that her unborn son had a cleft palate. An umbilical abnormality was found...

Lacey and her husband found out about possible facial differences in her son, Christian, through an ultrasound. At birth he was diagnosed with Tessier cleft or frontalnasal dysplasia. Tessier Cleft: The Challenge of Facial Differences Abnormal Ultrasound Shocks Parents As it happens frequently, Lacey and her husband found out about possible problems with her unborn child during a routine ultrasoun...

Kelly and Zac anticipated the arrival of their baby boy with excitement.  Nothing had led them to believe that he would be anything but a healthy baby.  When he was a few weeks old, they received a diagnosis of achondroplasia. They shared their experience in coming to terms with the diagnosis and how their relationship with God helped them love and accept Everett for who he is. Fear Turn...

When Kim was 18 weeks pregnant, the doctors discovered some abnormalities with Jackie, her baby. After Jackie was born, it was discovered that she has CHARGE syndrome.  Despite enduring six major surgeries before reaching age two, Jackie has brought joy and love to Kim’s life. Overcoming Challenges to Find Joy Discovering more than the gender at an ultrasound Kim went to her 18 week ultrasound exp...

Megan and Josh weren’t expecting their son Edison to have Apert syndrome or hydrocephalus.  Now at three-years-old, Edison has brought continuous joy into their lives. He has endured numerous surgeries and has many more in his future.  Megan and Josh were candid in sharing their experience. Apert Syndrome Creates Joy in Family Born looking different Megan recalled the first moment she re...

Kierra went into her 20-week ultrasound expecting to find out the gender of her baby.  She instead was told that Evanna, her baby, had a severe heart defect . Now at the age of three-years-old, Evanna is deeply loved by her parents who are thrilled to have her as their daughter. Finding Joy in a Terminal Diagnosis 20-Week Ultrasound Reveals Heart Defect During their 20-week detailed ultrasound, th...

A routine prenatal ultrasound showed Katherine’s baby had shorter limbs than was typical.  Baby Arabella was misdiagnosed with fatal disorders twice while in utero. Katherine and Jeff refused to terminate the pregnancy. It wasn’t until she was born that they got an official diagnosis of Ellis-Van Creveld syndrome .  Arabella is now a beautiful 2-year-old who has touched many lives. Carry...

Karen and her husband were surprised to learn that their son, Caleb, was born with Down syndrome. Even more surprising, Caleb had two heart defects, something sonograms hadn’t picked up on.  Karen has since become an advocate for people with disabilities and is grateful she has Caleb in her life. Happiness That Comes From Down Syndrome Older parents have child with Down syndrome “We were both olde...

During her pregnancy, Lauricia had several indications that her son, Zacchaeus, would be born with some abnormalities.  After birth, Zacchaeus was diagnosed with Cornelia de Lange syndrome , a rare gene mutation. Lauricia and her family have been blessed to have Zacchaeus in their lives. Finding Joy in Uncertainty Associated With a Rare Diagnosis Knowing something is wrong with your child At first...

Deborah and Kent experienced the worst nightmare a parent could have.  Their two-year-old daughter was miraculously brought back to life after drowning.  As a result, Heather lives with a traumatic brain injury .  The last 34 years haven’t been easy for Deborah and Kent but they have been worth it. Turning Tragedy into Miracles Events leading to the traumatic brain injury On a Fall day, Deborah an...

During her first prenatal ultrasound, Angie was told that her daughter wasn’t developing properly. She was encouraged to terminate her pregnancy after testing revealed nothing.  Now 12 years later, Ruby has blessed Angie’s life and has inspired others with her joyful personality. Recognizing Every Child Has Something to Give The World Unnamed rare genetic condition During her pregnancy, Angi...

Mandy and Steven already knew they were expecting a boy for their fifth child when they went to their 20-week ultrasound. They didn’t know however, that their baby had multiple issues that would result in him dying a few hours after he was born.  Despite being encouraged twice to terminate, they chose life and are grateful they did. Miracles Can Happen Finding out your baby is going to die At 16 w...

Tori and Matt were starting to become concerned when their nine-month-old daughter wasn’t meeting her developmental milestones.  After some testing, it was discovered that Lana had cerebral palsy caused by CMV in-utero. Tori and Matt share what a joy Lana has been in their lives. Congenital Virus Causes Disability  Nine-month-old not reaching milestones Tori recalls when Lana was nine months old. ...

Throughout the second half of her pregnancy, Casey grieved the diagnosis of her future son.  Owen was diagnosed with a limb difference . Something Casey and her husband weren’t expecting.  Now 10 months later, they recognize the positive impact Owen has had on their lives. Receiving the Best Gift  Ever 20-week ultrasound reveals limb difference Up until their 20-week ultrasound, Casey had a perfec...

As soon as Kimber was born, it was apparent that something was wrong.  She slept through shots, bathing, and a blood draw. No one was able to determine what was wrong.  They only gave Kimber six months to live. Luckily, the doctor’s were wrong. Kimber is now a fun four year old who has since been diagnosed with Prader-Willi syndrome . Fighting for What You Love Baby slept constantly Alyssa, Kimber...

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 r...

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 thrill...

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 2...

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 fin...