pediatrics

NewWhen your child is diagnosed with growth hormone deficiency (GHD), it’s natural to feel a mix of relief and overwhelm. Relief, because you finally have an explanation for why your child’s growth seems delayed. Overwhelm, because the path forward often includes navigating specialists, insurance approvals, and daily treatment routines. Advocating for your child can feel [...]

Rett syndrome (RTT) is a rare neurodevelopmental condition that primarily affects girls and is usually caused by a mutation in the MECP2 gene. While its hallmark features include loss of purposeful hand use, motor skill regression, and communication challenges, Rett syndrome rarely appears alone. Because the MECP2 gene influences how many other genes function in [...]

If you’ve ever heard someone repeat words or phrases they’ve just heard—like an echo—that’s called echolalia. It’s not simply “copying” or “mimicking.” Echolalia can be a meaningful form of communication, especially for people who experience developmental or neurological conditions. With Rett syndrome, echolalia may appear in early childhood, sometimes before speech skills are lost. For [...]

When people first hear the term kyphoscoliosis, it can sound intimidating — and a little confusing. After all, it’s really two conditions in one: kyphosis, which is the forward rounding of the back, and scoliosis, which is a sideways curve of the spine. When these combine, the result is a three-dimensional bend and twist of [...]

When you’re living with Rett syndrome or caring for someone with this condition, it can sometimes feel like the world only notices the things you can see—like hand movements, physical changes, or walking difficulties. But so much of Rett happens quietly, beneath the surface. These are the symptoms no one talks about at first glance, [...]

Helping your child navigate a chronic health condition can be challenging, both physically and emotionally. For some families, this journey involves a diagnosis of Growth Hormone Deficiency (GHD), a rare medical condition that affects a child’s ability to grow and develop. Understanding GHD and its treatment is a critical first step toward ensuring your child’s [...]

If you’ve ever noticed a loved one suddenly take a long, gasping breath in, then pause before letting the air out, it can be alarming. This is what’s called apneustic breathing—a breathing pattern where the inhale stretches on too long, the exhale is short or incomplete, and there’s often a noticeable pause in between. It [...]

When Emma was born, everything seemed typical. She met her early milestones — smiling at her parents, grasping their fingers, cooing at the world. But around 18 months, things began to change. The words she had started to form disappeared. Her purposeful hand movements gave way to repetitive motions. She began having trouble walking. After [...]

Pediatric human growth hormone deficiency (PGHD) is a rare but serious medical condition in children. It occurs when the pituitary gland, a small organ at the base of the brain, doesn’t produce enough growth hormone, an essential chemical responsible for supporting healthy growth and development. If left untreated, PGHD can lead to lifelong health issues, [...]

If you’re the parent or caregiver of someone with Rett syndrome, you already know what it’s like to navigate the unfamiliar. New terms. New symptoms. New patterns that don’t always make sense but are part of the daily rhythm of life. One of those patterns might be a sharp, grating sound coming from your child’s [...]