Inspiring Life Despite A Diagnosis

Having a child with Pfeiffer syndrome comes with it's challenges. You will discover, however, these kids are just like any other, they just look different.

Sharmi was born with Down syndrome and ever since that day she brought happiness in her wake. Sharmi has since passed away, but even now her life continues to inspire her family members and others to serve. Raising a child with Down Syndrome When Sharmi was born, the doctor offered to have her sent to an institution, her mother was clear on the choice. “She’s my daughter; I want to take care of her.” A family and life full of love ensued. Every Sunday evening as a movie night for the family Sharmi, would often pull out the popcorn before her dad could get to it and she loved to dance with her grandma. Sharmi would spend a lot of time with her sister Valerie and Valerie’s friends. Valerie would tell her friends like all children with Down syndrome, “Sharmi just wants to be with and participate with everybody else as much as she can.” Valerie took her sister on many shopping trips throughout the years so that Sharmi could try on clothes, “and that’s how she was with our family; if we went, she went.” Individu

Through Gwen’s second pregnancy, all tests came back normal and she went full term with her baby. After she was born, however, her daughter was diagnosed with Asparagine synthetase deficiency(ASNS) – which includes Microcephaly and Epilepsy– as well as Dwarfism, Cortical Visual Impairment, and Cerebral Palsy. When she was pregnant with her third child, doctors discovered her unborn baby would be born with the same diagnoses.They never thought that another daughter would be born with the same disability. This time they found out about Lola’s condition during Gwen’s pregnancy. Discovering Your Child Has ASNS and Microcephaly Gwen and her husband were not expecting their second child, Claire, to be diagnosed with Asparagine Synthetase Deficiency because everything looked normal during the first almost twenty weeks of pregnancy, but at that point they found out Claire’s head was not growing as fast as it should. Her doctor wanted her to explore all possible options, and Gwen did her research on an abortion. But

Kenai came five weeks early and was diagnosed five days after birth. Kassy and her husband Darren had no idea that he would be born with 7 Q Chromosome Deletion. Though the news was unexpected for them and their families, they love Kenai the way he is. In fact, they are happier now, and their family is more complete. What limits to put on a child with disabilities  Kenai is one of 34 babies who has been reported to have 7 Q Chromosome Deletion. This really is an unknown area for them because his condition is so rare. Each case is different, so Kenai’s parents are learning about his special traits as he grows. “Do not to use Google for answers,” said Kassy. “The online research will tell you that all the things they’ll never be able to do.” Kenai has a cleft in his soft palate, and doctors said he’d never be able to eat with his mouth. When they asked if they could put a G-tube in his stomach, Kassy said no. She wanted to know if Kenai could do it by himself first, and he has succeeded. “I don’t ever say th

Nicole found out that her daughter had Spina Bifida when she was 16 weeks pregnant. After a lot of research, Nicole decided surgery in utero would give her daughter a head start at beating this diagnosis. Years later her baby, Piper, has overcome overwhelming odds, some thanks to the in utero surgery and in another part to her unconquerable spirit. Piper's condition has forged resilience with her siblings and strengthened bonds within her family. Fetal surgery on a baby with Spina Bifida When the doctors told Nicole her baby would have Spina Bifida, she was given some options, she could terminate the fetus, have surgery in utero, or have her child go through surgery soon after birth. She made an appointment with a Perinatologist, “a high-risk OBGYN” and after a lot of research, Nicole chose to have surgery in utero to help improve Piper’s quality of life. There are only three hospitals in the United States that do this type of surgery, and it has to be done before the mother is 24 weeks pregnant. If the in

Auni lived a short life due to Spinal Muscular Atrophy. Despite this, she made a lasting impact on her parents and all who knew her.

Christie and her husband built their family by adopting special needs children, 26 of them to be exact. Special needs children bring such joy into a home.

Tyler and Alie are the parents of three children who were each diagnosed with different disabilities: Asperger’s syndrome, Anencephaly, and Albinism. And even though their daughter with Anencephaly did not survive more than a couple days after birth, each of these children has brought them so much happiness. Diagnosed with Anencephaly Before Birth, but Decided to Keep Child Anyways Amelia was born second out of their three kids, but she was the first to receive a diagnosis. When Alie was 20 weeks pregnant with Amelia, they found out she had Anencephaly, which would affect the growth of her brain stem. Because of this, Amelia was not likely to survive after birth and could even possibly be stillborn. When faced with the decision of whether or not she should terminate the child, Alie’s initial reaction no. “I felt her kicking when the doctor was telling us that our baby had a fatal birth defect and there was 0% chance our baby would live, and I was feeling her kicking inside of my belly, and I just knew that

Immediately after Tiffany and TJ's son Austin was born, Tiffany noticed Austin's almond shaped eyes, and she knew this was a sign of having Down syndrome. She immediately knew he was born with Ds, but they got the official diagnosis from their doctor a week after he was born. We sat down and talked with Tiffany and TJ about their experience being special needsparents. They told us the challenges and joys they’ve experienced, and the impact he’s made on their immediate and extended family. Challenges- Tiffany said "He was three before he really walked. Potty training a child with Down syndrome can be challenging. We potty trained him before he could walk on his own. People with Down syndrome have low muscle tone, so he used a walker. He did really well at potty training for a good year and a half, but not great. He's currently going through a potty training regression, which is common in kids with Down syndrome." Joys- Tiffany: “I definitely think some of the joys are when he hits develop mental milestone

When Georgia and Nick's son Lincoln was a year and a half, he was ahead in his speech, and in lots of different ways, he was a smart kid doing really well. The older he got, he started showing signs of Autism. He lost more and more speech and stopped interacting with his loved ones. He began showing sensory issues, like having a hard time being out in public, which are all signs of being on the spectrum. "I didn’t really want face that he was showing signs of Autism, but I just didn’t have a choice. When he was two years old, we were at Nick’s family’s house. Lincoln’s first word was ball, and I remember saying, “Come get the ball! Come get the ball!” and he couldn’t say the word ball. That was the moment when I knew something was up and that he had lost so much speech that he couldn’t say that word anymore. That’s when I knew I had to get him checked out, and it was shortly after that when we had him diagnosed. At first it was just getting to understand that even though I knew my kid, I felt like I didn’t

Doctors told Stephanie and Andy, their unborn child had anencephaly and wouldn't make it to birth. Grace impacted many in her 10 hrs and 32 min of life.

Cora and Tray were relieved once their girls were finally diagnosed with Rett syndrome. Now that they had a diagnosis, a game plan could be made.

Nothing could have prepared Sandra for the life she has had. One of her twin boys was diagnosed with ADNP syndrome.  They did not get a diagnosis until Tony was six years old which was difficult, but also a blessing. ADNP syndrome did not have a name and it wasn't until Sandra got involved that a name was actually chosen. A Long Road to ADNP Syndrome Diagnosis Shortly after Tony was born, he was having trouble sucking and keeping his body temperature up.  He was sent to the NICU, where medical staff expressed concern about Tony's heart. It was discovered Tony had four heart defects. At three months of age, he had his first open-heart surgery.  Before the surgery, doctors believed he had Chromosome 22 Deletion disorder, but that test came back negative. As he grew, Tony wasn't looking at his parents, showed no interest in playing, and was missing milestones.  After having an MRI, Sandra's worst fear was confirmed. "Something much bigger was wrong with Tony." Because several brain abnormalities were identified

Griffin is a young boy with Goldenhar syndrome. He is proud of who he is! His positive attitude helps his parents not view his diagnosis as a bad thing.

Baby Ammon was diagnosed with DiGeorge syndrome and numerous other abnormalities. His parents are grateful he is here despite the difficulties.

Roland was diagnosed with ADNP syndrome at age four. Since then, his parents have spent their time researching ADNP syndrome and helping other parents too.

Larkin is the only known child to have Down syndrome and SMA, Spinal Muscular Atrophy. Her 12 years of life have been difficult, but worth every minute.

Mason has a long list of medical complexities including a double chromosome deletion. Despite his many medical challenges, he is a light for his family.

Twins, Kay and Kara, were born with Quadriplegic Cerebral Palsy. Their sister, Kellie, shares her experiences of having a sibling with a disability.

Jacob is the first person to ever be diagnosed with a single gene mutation. His parents have learned to live in the moment and love their journey with him.