What is Trisomy 18?

Republican presidential hopeful Rick Santorum temporary left the campaign trail this week, in order to care for his daughter, Bella. She has a chromosomal disorder called Trisomy 18. Bella is now in the hospital, recovering from pneumonia. How much do you know about Trisomy 18? Isabella Santorum, who is called “Bella”, is three years old. She is the youngest of Rick Santorum’s children. This week, Bella got sick from pneumonia, and was hospitalized at Children’s Hospital of Philadelphia. Rick Santorum temporary left the campaign trail to care for his daughter, and then returned to it after Bella’s health started improving. … Continue reading →

10 Things about Cystic Fibrosis You Don’t Know

May is cystic fibrosis awareness month. Until my daughter was diagnosed at birth with CF, I had no idea what the condition was. And while most children are now being diagnosed through newborn screening, there are still many children out there who are ill with parents struggling to get a correct diagnosis. CF presents differently in each patient, but most will have frequent respiratory illness, trouble gaining weight, foul smelling stools, and salty tasting skin. Here are some little known facts about CF. 1. Nearly 1,000 new cases of CF are diagnosed each year. 2. Everyday a baby is born … Continue reading →

Can’t wait until Monday!

I can’t believe it. The day has finally come. Ever since Lily was three days old, she has had a feeding tube. During one doctor’s visit, we were told not to be surprised if she needed it until she was two or three. He added that some kids have feeding tubes until they are five or six. “But they all grow out of them eventually,” he reassured us after noticing what I’m sure were looks of dismay on our faces. Over time, my wife and I grew to accept Lily’s feeding tube as a part of who she was… kind … Continue reading →

How to Respond to a Child with Tics

Tics are repetitive movements that just happen, and are not within a child’s control. A child with tics might be able to delay them for a short while, just in the way that the rest of us can hold our breath and delay our breathing. Eventually our need to breathe will become overwhelming and automatic. This is similar to how tics overwhelm a child and cannot be suppressed for very long. So it is totally useless to expect a child to “stop” her tics. Tics accompany all kinds of syndromes and disorders, such as ADHD and OCD. If a child … Continue reading →

Ten Ways to Help Your Child with Tourette Syndrome Succeed in School

Children with Tourette syndrome (TS) often face a hostile, unkind world in the public school system. Teachers can be impatient with the tics and peers can be cruel and insulting. What happens in the classroom, and how the tics are handled, can seriously impact the life of this special child. Here are ten classroom accommodations which can help your child with Tourette Syndrome (or other tic disorders) succeed in school: 1. Select a good teacher. The teacher should be carefully chosen. He or she should be patient, understanding, and knowledgeable about TS. The teacher should have a private meeting with … Continue reading →

Has Your Child Been Screened for Fragile X Syndrome?

When my son Kyle was first being evaluated and diagnosed, one of the things he was tested for was fragile X syndrome (FXS). It’s a good idea for any child who falls on the autism spectrum or has unexplained mental retardation to be screened for this condition. Fragile X syndrome is the most common known single-gene cause of autism or autistic-like behaviors, and is typically associated with mental impairment. 2% to 6% of children diagnosed with autism are eventually diagnosed with fragile X. What is fragile X syndrome? Like the name indicates, fragile X syndrome is a congenital condition resulting … Continue reading →

Agonizing Journey: The Undiagnosed Child

When a child is born with (or develops) physical problems, parents experience a sense of panic: What is wrong with our baby? The anomalies might be obvious or subtle. Sometimes it is only a parent’s “gut feeling” indicating that something just isn’t right. There are few things as frightening as having a baby or child with an unknown medical condition. When Parents Become Medical Researchers Many parents find their feet set upon this difficult, frustrating path. They become their child’s own medical researcher, trying to find a diagnosis that matches the baffling symptoms. Along this mysterious journey, their child might … Continue reading →

Rett Syndrome: A Brief Overview

Rett Syndrome was first described in 1966 by Dr. Andreas Rett, an Austrian physician. Because it is caused by mutations on the X chromosome (specifically, on the MECP2 gene), it almost exclusively occurs in females. Females have two X chromosomes, so the mutation found on one chromosome is somewhat compensated for by the other. In males, however, mutations on the X chromosome cannot be compensated for by the Y chromosome. So males with the condition will most likely die prior to or shortly after birth. Rett Syndrome is found in every race and social economic class. It affects one in … Continue reading →

Tourette Syndrome: How Much Do You Know?

You’ve heard of Tourette syndrome, but the media has sent many confused messages about this disorder. The more people are educated on the nature of TS the more likely it is that sufferers can have some normalcy in their lives. As human beings we tend to treat others with greater compassion when we have greater understanding. So how much do you really know about this condition? Answer these questions, true or false, and rate your knowledge: 1. It is estimated that in every school in America, at least one student has Tourette Syndrome (TS). (T/F) 2. Tourette Syndrome is diagnosed, … Continue reading →