ARTICLES RELATED TO:
Community Connection

Contributed by Maria’s dad Shahid. When Maria was 10 months old, we noticed some abnormalities in her chest and back, but we weren’t able to find a hospital or doctor who understood her situation.  She was frequently ill with pneumonia and breathing was painful. Her condition eventually worsened.   When she was 18 months old, we met a doctor in Peshawar, Pakistan who diagnosed Maria with MPS. It was our first time hearing the word MPS (Mucopolysaccharidosis), so we did online research and reached out to other families. Unfortunately, there is no treatment for rare diseases in Pakistan and there was no family to guide us for diagnosis and treatment. I sent Maria’s bio-samples to India, and Germany where they confirmed that she had MPS, but they were unable to determine her type of MPS. So, I sent her samples to the US and a diagnosis with MPS IV was […]

Contributed by Emily’s mom Elizabeth. Emily is an AMAZING little girl! At 5-years-old, she is comfortable telling people she has a disability and that her muscles work differently than theirs do. Emily was born three months early and diagnosed with cerebral palsy when she was about a year and a half old. Both Emily and her identical twin sister, Sarah, were delayed in reaching their milestones, but Emily’s delays were more pronounced.  Emily is super determined and does everything she can to keep up with her peers. This requires A LOT of hard work! Emily does about 6-7 hours of therapy a week, a combination of PT, OT, and aqua therapy. Since she was about 3, Emily has received intermittent Botox injections to loosen her muscles and give her some additional flexibility and mobility. For example, she learned to walk with lofstrand crutches within 6 months, a task they rarely teach children her age given […]

Showing kids how to turn empathy into helpful action, they learn they can make a difference. You and your children may be anxious about the war in Ukraine. It’s important to answer any questions your kids may have. But you can also turn your family’s empathy into meaningful action by finding ways to support the people of Ukraine. Exploring how to help and explaining that our country is supporting relief efforts can make it easier for children to process these tragic events. Here are a few ways that families can offer support: Donate to a Verified Charity Kids can feel more of a connection to aiding in relief efforts if they understand who they are helping and how. Families can read about the charities that are accepting donations and choose one together. Below are a few organizations that are specifically assisting Ukrainian children and families. UNICEF: This humanitarian organization works to […]

Contributed by Skyler’s mom Danielle. At my 20-week ultrasound, I couldn’t wait to learn if I was having a boy or a girl.  It was gender reveal day, but it also turned out to be the day I learned that my little girl, Skyler, would be born with a cleft lip. Before meeting Dr. Edward J. Caterson, a cleft surgeon expert at Nemours Children’s Hospital, Delaware and, his nurse practitioner, Kim Giordano, MSN, CPNP- BC, CORLN, I was so scared, fearing the worst. But as soon as I met them, I felt a huge sense of relief.  Most importantly, Dr. Caterson and Kim were always there for me when I needed them most—to answer my questions or to just reassure me.   Quite surprisingly, when Skyler was born she had no trouble latching on and breast-feeding despite her cleft lip. She has continued to surprise us, with her resiliency after […]

Contributed by Adira’s mom Ashley. The first inkling that something wasn’t right came at my first ultrasound. My baby’s femur was bent at a 90-degree angle when it was supposed to be straight. A subsequent ultrasound showed fractures in her skull and irregular shaped ribs.  I was referred to a large prenatal referral center for an amniocentesis that confirmed a diagnosis of Osteogenesis Imperfecta (OI).  Consultations with the prenatal group suggested that this form of OI was very severe and incompatible with life.   I was devastated and searched the internet to find help. Miraculously, I connected with a mother who had been in a similar situation.  She referred me to the Osteogenesis Imperfecta Program at Nemours Children’s Hospital, Delaware.  We met the entire OI team the same day and geneticist, Dr. Michael Bober told us, “I promise you that we will do everything we can for your baby.”  Additional […]

For the Tsoflias family, the past year has been a roller coaster of emotion, disbelief, heartbreak and ultimately, hope. It all began when a routine 20-week ultrasound revealed an abnormality. Brittany, an expectant first-time mom, was referred to Nemours Children’s fetal cardiologist, Shubhika Srivastava for a fetal echo and soon learned that her baby had a very rare congenital heart defect called Ebstein’s Anomaly.  The defect is linked to an abnormality in the tricuspid valve, causing it to leak and if left unchecked, would result in heart failure. To correct the defect, surgery would be required.  Knowing that her baby would need highly specialized heart care immediately after birth, Brittany delivered Vea through the Advanced Delivery Program at Nemours Children’s Hospital, Delaware. “What an amazing experience. I felt special, says Brittany, because everyone went above and beyond for me.” Recognized as a surgical expert in this type of complex heart […]