This is a picture of Zak, almost two at the time, being fully accepted and included by other boys his age
for the very first time. It was a memorable and emotional milestone for both Zak and his mother.
Flipping a Coin
by Lauren Cahill
by Lauren Cahill
Years ago, my mother was diagnosed with Huntington's Disease, a genetic neurodegenerative disease that quickly affected her muscle coordination and rapidly led to dementia. I lived for the moment thinking that I, too, would develop this horrible debilitating disease. I felt as if Huntington's Disease would come any day and suck my life away. At the time there was no genetic testing available and they had not yet discovered what caused the disease. I started to reprogram my life; a life without a husband and children. A life without a future.
A Family's Journey Toward a Mitochondrial Disease Diagnosis through Genetic Testing
by J. Drury
by J. Drury
Four years ago, our family changed forever when my previously healthy daughter began experiencing life-threatening illnesses and chronic medical conditions. As my daughter began her medical journey at the age of nine months, she began to accumulate a long list of diagnosed medical conditions and an accompanying team of specialists. We worked patiently with her doctors through invasive medical and diagnostic tests, procedures, and many hospitalizations, but no underlying diagnosis for her many medical conditions was confirmed.
Focus: Genetics
You could say I had warning. There was the 20 week prenatal ultrasound that showed several "anomalies." But when my limp barely-breathing minute-old daughter was lifted from my arms, when they told me she was being transferred to the closest NICU, when they said that it might be a syndrome causing her problems, I was in denial.
She was fine. I just knew it.
And I was right, because in time my definition of "fine" changed. Before it seemed impossible to acknowledge that she might have a syndrome. We told the doctors as much. We knew she had all her chromosomes, and we refused further testing, despite protests from our family. We looked for any excuse we could find for her apparently dysmorphic features: my hands, my husband's ears, my mother-in-law's eyes. Now? Well, now we no longer expect answers.
by Michelle Doty
When my daughter was born, I was suddenly thrust into the world of human genetics, a place that I never thought I would find myself nor would I wish to be. My daughter, Campbell, was born with a bilateral cleft lip and palate that had not been detected on ultrasound. There were several other indicators after she was born that she might have a genetic syndrome instead of an isolated cleft lip and palate. She was administered numerous genetic tests including a blood test that would analyze her chromosomes and hopefully find an explanation for her symptoms. After multiple testing over six years, two geneticists and numerous other professionals, she still remains undiagnosed.
by Sharon Moeykens
When my daughter Sarah was born six years ago, we had no idea the journey that would be in store for us. And as I write this, I realize that genetics has played a large role in shaping what we have or have not done for our family.
It began during pregnancy, when we opted for the noninvasive first trimester screening that checks for Trisomy 18 and 21, along with the nuchal translucency ultrasound. Neither revealed any cause for concern. Because of these test results, along with our ages and doctor recommendations, we opted out of the Triple/Quad Screen and amniocentesis both usually performed between 15 and 20 weeks of pregnancy. We became slightly worried when our 20 week ultrasound did reveal a potential for small hydrocephalus, or fluid in the brain. But no one seemed too concerned since the weekly ultrasounds that followed remained consistent through the rest of the pregnancy.
by Jill Flinton
Oh the joy of a newborn! Everyone oohing and aahhing over the cute little features of the new arrival and trying to figure out whose ears or nose or eyes the new one has. Those features are genetic, but so are all the internal parts too--all the organs and all the cells.
Do you really know what you are passing along to your child? Heart disease and high cholesterol are likely hereditary. So are genetic diseases such as Huntington's. But there are so many others that are unknown.
When I offered to write this article, my son Daniel had recently been diagnosed with a very rare genetic condition called Niemann Pick Disease, Type C. By the time I sat down to write it, he was dead. It took us 4.5 years to get a diagnosis and 4.5 months to live with it.
Specialty Article
Home Feeding Pumps and IV Pumps
Surviving a Power Outage with Complex Medical Issues
Home pumps for tube feeding and intravenous infusion have come a long way from the huge temperamental dinosaurs of the last decade. These days, there are several small pumps available that can do amazing things, from working when wet to running upside down. In this article, I will provide some basic information about the most popular pumps currently available in the United States.
Feature Article
Almost every part of the country has experienced severe weather-related events in the past year, including damage from snowstorms, thunderstorms, hurricanes, or tornadoes. In many cases, power was lost for an extensive period of time, sometimes as long as two weeks. While neither severe weather nor power outages can be predicted with any great certainty, there are a number of steps you can take in advance to minimize the effects of a power outage on your child and family.