Rare Disease Day takes place on the last day of February each year. The main objective is to raise awareness with the general public and decision makers about rare diseases and their impact on patient’s lives. Speak Now for Kids would like to take this opportunity to honor children with rare diseases and their families. Today, we spoke with Emma’s mom, Lydia, to learn about her experience raising a daughter with a rare disease.
We sat here waiting for the results of Emma’s bone marrow biopsy to let us know what we were up against — just a week after the oncologist told us “we don’t think it’s leukemia” and “it’s not that big of a deal.” Remembering that moment still brings me tears. Fearing the unknown can definitely be crippling. Once I heard Emma’s official diagnosis, the weight of the world seemed minor compared to the doctor saying “we would have preferred a leukemia diagnosis.”
We learned that my then 9-year-old, Emma, was diagnosed with a terrifying rare disease called aplastic anemia, also known as bone marrow failure. Aplastic anemia is a life-threatening blood disorder where the body stops producing enough red blood cells, white blood cells and platelets. “Googling” would be an understatement for what I did on the way home that night and the days to follow. The fight for her life began right away — I needed to know exactly what we were up against. What treatments were available? Where was the best facility for the treatments? Who was the best doctor for this condition?
Rare Disease Day takes place on the last day of February each year. The main objective is to raise awareness with the general public and decision makers about rare diseases and their impact on patient’s lives. Speak Now for Kids would like to take this opportunity to honor children with rare diseases and their families. Today, we spoke with Vivi’s mom, Mihaela, to learn about her experience in raising a daughter with a rare disease.
Eight-year-old Vivi is a special child. Not only because her compassionate and loving personality is irresistible, but also because of her extremely rare disease, Niemann-Pick disease type C (NPC).
NPC is a rare genetic disorder where the body can’t metabolize cholesterol and fats, resulting in an excess of these substances in the body. Cholesterol build up can lead to severe liver disease and neurological symptoms. There are around 500 known cases of NPC in the world and, according to medical experts, 100 percent are fatal due to a lack of a cure. This disease changes the question of “WHEN I grow up” to “IF I grow up.”
In recognition of American Heart Month, members from the Speak Now for Kids community will share their personal experience of raising a child with a congenital heart defect (CHD). Today, we will hear from Waylon’s mom, Tabitha, on how she’s currently raising awareness for Waylon and kids like him.
Waylon was born with hypoplastic left heart syndrome (HLHS). We learned about his heart condition at my 22-week ultrasound. We found out that there were only three chambers to his heart. His initial diagnosis was severe aortic valve stenosis and that quickly transitioned to HLHS. We were given many options after finding out his condition, but we chose surgery to give Waylon a chance at life. We were scared, it was like being hit by a truck in a moving tornado. Our lives changed at that moment. Being parents of a child with coronary heart disease (CHD) has been full of surprises, questions and constant research to ensure the best care for him.
We had to travel six hours away from our home state, Kentucky, for his surgery. Waylon was initially treated at Kentucky Children’s Hospital, where he was born. He spent the first three months of life there. He suffered major complications, including chylothorax, brain bleeds, seizures, multiple major infections, Hypoxic Ischemic Encephalopathy, and TRALI (transplant related acute lung injury). After finding out that his lead surgeon took a leave of absence and the pediatric heart program shut down, we air lifted to Ann Arbor, Michigan, for continue care for Waylon.
In recognition of American Heart Month, members from the Speak Now for Kids community will share their personal experience of raising a child with a congenital heart defect (CHD). Today, we will hear from Barrett’s dad, Nolan, about Barrett's health journey and how this heart warrior is doing today.
When my wife gave birth to my son, Barrett, we had no idea that anything was out of the ordinary. Her pregnancy had been fairly typical with two normal ultrasounds. She was a strong and healthy 25-year-old woman, and we had no reason to suspect anything was wrong. The long and exhaustive labor started with a two-hour car ride to a Duluth hospital from the North Shore of Minnesota. My son, Barrett, finally arrived after an emergency cesarean — just hours after his due date. He was perfect and we were so excited. We spent that entire day with a newborn that behaved exactly like newborns do: eating like a champ, getting his first bath from the nurses, meeting new friends and family, and filling his diapers.
Our joy quickly turned to fear when, after 20 hours of getting to know our son, we were told he had developed cyanosis, and his pulse was dangerously low. He was prepped and transferred to a nearby hospital, less than a mile away, that had a level 1 NICU. With my wife having just undergone surgery, she was forced to stay back, while I ran the nine blocks to be with him. Standing outside the room as they struggled repeatedly to put a central line in correctly, I found myself breaking down outside his door. I wanted to be strong for him, for my wife, but seeing him felt like a gut punch. I felt helpless as there was nothing I can do to help him.
In recognition of American Heart Month, members from the Speak Now for Kids community will share their personal experience of raising a child with a congenital heart defect (CHD). Today, we will get an update from McKinnley’s mom, Jenny, on how this four-year-old is doing ever since she was discharged from American Family Children's Hospital.
McKinnley was born eight weeks early and diagnosed with transposition of the great arteries, an incredibly complex heart defect. At only two hours old, she underwent her first procedure to stabilize her heart. Bonding with her mother in the above photo, McKinnley is assisted by feeding and breathing tubes. To survive, she needed another surgery. But weighing less than 3 pounds, McKinnley would first have to grow stronger and put on weight
In recognition of American Heart Month, members from the Speak Now for Kids community will share their personal experience of raising a child with a congenital heart defect (CHD). Today, we will hear from Finn’s mom, Kelly, on how she’s currently raising awareness for Finn and kids like him.
When I was pregnant with Finn, my doctors believed that he would not make it to his birth. Instead of having four different heart chambers, my ultrasound showed that Finn didn’t have clear separations inside his heart.
My son was born with four congenital heart defects and endured more than 14 surgeries — two of them open heart surgery — during his first year of life. My husband and I spent most of our time learning about this condition and searching for the best care. We researched the top cardiac hospitals in the entire country! It didn’t matter to us if we had to travel across state line — we would do it for our child. The Children’s Hospital of Philadelphia (CHOP) willingly took his case and we were blown away by their care in so many ways. Not only did CHOP check the box for Finn’s cardiac care, but they were able to provide the best care for other anatomical issues. We were very impressed by their ability to work together as a united team and put our child first. They have empathy, kindness and truly treat Finn like their own child.
From a very early age, Madison — lovingly referred to as Maddy — possessed a very strong character and brought lots of laughter and smiles not only to her household but to just about everyone she met. At the age of 3, she embarked on a life changing journey that was also beyond her years — a battle with cancer.
Maddy had been experiencing some discomfort in her right leg and stomach, and her stomach appeared to protrude. After a series of tests she was diagnosed with stage 4 high risk neuroblastoma. Further bone scans revealed that the cancer was not only in her abdomen, but also in her lower spine, her shoulders and her hips — she was given only a 30 percent chance at survival.
In spring of 2018, with the help of the team at Children's National Health System, Maddy celebrated her four-year anniversary of remission and her 9th birthday! She enjoys school and all that life has to offer a special little girl like her. She loves reading, dancing, singing, swimming, outdoor adventures and spending time with friends and family.
In recognition of American Heart Month, members from the Speak Now for Kids community will share their personal experience of raising a child with a congenital heart defect (CHD). Today, we will hear from Caleb’s mom and Southwest Regional Director of Mended Little Hearts, Candida, on how she’s raising awareness for Caleb and kids like him.
I was finally pregnant again after two back-to-back miscarriages. This time, it seemed as if it would be a successful pregnancy. As my husband and I were getting excited to find out the sex of the baby at the 18-week ultrasound, the doctor informed us “there might be something wrong.”
Shock, disbelief, fear, confusion, sadness — every emotion you could feel was happening at that very moment. “Oh, by the way, you’re having a boy,” our doctor told us. Every bit of our excitement was gone. Along with that, they wanted us to know our three options: terminate the pregnancy, compassionate care, or carry my child to full-term and hope that a surgeon would operate on him. We found out that my son has hypoplastic right heart syndrome (HRHS). A surgeon informed us that we might have a chance with surgery, but it might be better to wait until he was born.
Caleb had three open heart surgeries at Methodist Children’s Hospital in San Antonio. His first surgery was when he was 3 weeks old and his second open heart surgery occurred at 5 months old. We made it until one month before his 6th birthday before we made the final decision to move forward with the last stage of surgery, the Fontan procedure. Caleb still had issues with arrhythmias and the team hoped to prevent them without medication. They attempted an ablation before surgery but were unsuccessful. They then used the maze procedure during surgery which seemed to do the trick for a few years. Unfortunately, the arrhythmias came back and are being controlled with medication.
Paige looks like a typical toddler, a happy 4-year-old filled with laughter and boundless energy. The little plastic t-shaped device attached from her neck is the only thing that gives away what is decidedly different about this lovable kid.
It is a tracheostomy tube — trach tube for short — that is inserted into a hole in her neck and windpipe, allowing her to do what most people take for granted: breath.
“Ordinarily, babies come out knowing how to breathe,” says Paige’s mom, Amber. “Paige didn’t. She’s learning to breathe from her mouth and nose.” The trach tube was put in at Hasbro Children’s Hospital, where Paige is in the hospital’s ventilator integration program (VIP), which provides medical care for infants, children and adolescents with chronic respiratory problems and those dependent on medical technology.
Paige was born with a giant omphalocele, a type of abdominal wall defect where the bowel, liver and other abdominal organs protrude out of the abdomen into the base of the umbilical cord. “Because of that, her lungs didn’t develop normally, and the blood vessels didn’t develop normally during her prenatal life,” says Dr. Karen Daigle, director of the Hasbro Children’s Hospital VIP program. “As a result, she’s had signiﬁcant surgical issues and was very sick as a newborn. She developed chronic respiratory failure and was on a ventilator.”
About 120,000 babies are affected by birth defects each year in the United States. Not only can birth defects lead to lifelong challenges and disabilities, they are also the most common cause of death in infants and the second most common cause of death in children aged 1 to 4 years.
For National Birth Defects Prevention Month, Speak Now for Kids spoke with Carter’s parents, Webb and Courtney, to learn what it’s like to parent a child with a birth defect and how the condition affects her family’s life.
Carter was born with spina bifida. Although spina bifida impacts his life every day, Carter does not let it define who he is. This happy and energetic boy loves school, competitive cooking, playing adaptive sports and, best of all, being a big brother to little brother, Cohen.