Posts Tagged ‘ baby health ’

One Mom’s Christmas Wish for Her Daughter With Rare Disorders

Thursday, December 25th, 2014

This is a guest post from Nicole Burns D’Angelo, whose daughter, Ella, has rare brain and intestinal disorders. She’s been treated at the two top children’s hospitals in the country—The Children’s Hospital of Philadelphia and Boston Children’s Hospital. I first learned of her story because some friends posted on her Facebook site, Team Ella. Nicole’s Christmas wish is to spread Ella’s story so that families with children also facing the same challenges can connect. 

I gave birth to a beautiful baby girl in April 2012. Our joy soon became fear. Ella wasn’t able to eat. We rushed her to The Children’s Hospital of Philadelphia where many test were performed. Ella wasn’t thriving and we needed answers. After countless test we finally received the news that Ella had an extremely rare brain disorder called Congenital Bilateral Perisylvian Syndrome or CBPS. A brain disorder so rare our likelihood of meeting someone else with the same disorder were very slim. CBPS consist of feeding difficulty, partial paralysis of the facial and throat muscles as well as hard to control epilepsy. There’s no cure. It was all so hard to understand we just kept asking why. It didn’t end there.Soon following Ella’s brain diagnosis, her intestines stopped functioning properly. There we were back again having test after test. Ella was diagnosed with Enteric Neuropathy, a disorder that effects the nerves in her entire intestinal tract. Ella is surviving off of TPN (IV nutrition) which she receives through a central line in her chest. IV nutrition can only help her for so long. It can not be a long-term plan. IV nutrition can affect major organs one being the liver causing failure. We spend a lot of time at The Children’s Hospital of Philadelphia, but we make the most of every moment. Ella is the happiest 2 -year-old despite her struggles. She faces everything with a smile.

The holidays are here, and we hoping for a Christmas miracle. The miracle of a cure, a promising treatment, or even a family we can talk to who are facing our same battle. Our Christmas wish is to spread her story. We want other parents to know they are not alone, never give up, and always have hope!

How to Make an Angel Christmas Ornament
How to Make an Angel Christmas Ornament
How to Make an Angel Christmas Ornament

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Why the Jscreen Genetic Test Is Important for Your Baby

Tuesday, November 11th, 2014

Colorful DNA strands geneticsBy Stephanie Wood

For most parents to be, there’s no such thing as “too much information” when it comes to their future children’s health and well-being. Whether you’re just thinking about getting pregnant or already have a baby on the way, you’ve no doubt considered the pros and cons of the prenatal tests available that screen for chromosomal abnormalities such as Down Syndrome.

When I had my three children, I chose to only have screenings and not to undergo anything invasive like CVS or amniocentesis because of the risks involved. But now there’s a new testing option that I would have seriously considered, and you should too: Jscreen is a saliva-based, at-home genetic testing kit that indicates if you are a carrier for over 80 different genetic disorders.

Developed at Emory University’s Department of Human Genetics in Atlanta, the test was originally created for the Jewish population, which is at a higher risk for 40 genetic disorders. Now, however, Jscreen has an expanded panel that screens for over 80 disorders common in the general populations as well, including Cystic Fibrosis, Fragile X syndrome (the most common known cause of autism spectrum disorders), and Sickle Cell Anemia.

Why genetic testing matters

Even if you don’t know of any cases of genetic disorders in your or your partner’s family, you should still take this seriously. According to Emory University genetic counselor and Jscreen program senior director Karen Grinzaid, 80 percent of babies born with a serious genetic disorder have no family history of that disorder. And if you and your partner both turn out to be carriers of a genetic illness, each of your children will have a 25 percent risk for actually having the disorder. “The vast majority of people will have a perfectly clean genetic history,” notes Grinzaid, “so Jscreen is most likely going to provide peace of mind.” But if the results do indicate you are carriers, a genetic counselor will help you understand your options, such as using invitro fertilization (IVF) or an egg or sperm donor. Other carriers will decide to take no action at all, but will be prepared in case their child is born with a genetic disorder.

How Jscreen works

Jscreen is covered by most insurance, which means you will not likely have to pay more than the $99 testing kit fee. All results are reviewed by a Jscreen physician or you may choose to have them sent directly to your own doctor. If you or your partner has tested positive for a genetic disease, follow-up counseling is included via phone, videoconferencing, or a local genetic counselor who is part of the Jscreen network. Once you return your saliva samples, you’ll receive the results in four weeks or less. Other direct-to-consumer tests on the market have been controversial because they don’t provide any guidance about the results, but the medical community has been supportive of Jscreen because of the doctor involvement and follow-up counseling, notes Grinzaid. And your privacy is not at stake—all the results are kept in a secure database that only you can access.

Your First Prenatal Visit and Tests
Your First Prenatal Visit and Tests
Your First Prenatal Visit and Tests

Image: Colorful DNA strand via Shutterstock

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A Healthy Back-to-school

Friday, August 2nd, 2013

The Children's Health Fund's mobile medical clinic.

The Children’s Health Fund’s mobile medical clinic.

Keeping track of my kids’ medical and dental appointments–making them, taking the kids to them, filing away the records–sometimes stresses me out. But I’ll never complain again after my visit to the big blue bus run by the Children’s Health Fund, which is devoted to providing health care for kids who don’t have access to it. This mobile medical center was parked on the sidewalk in the South Bronx on a blistering hot day last month, and Parents editors Diane Debrovner, Kara Corridan, and I stopped by.

I’d first learned about the clinic on wheels as we were preparing this story for Parents about how important good medical care is to a child’s school success. Inside the cheerful yellow-accented RV is a state-of-the-art two-room medical clinic, complete with a triage area and a nurse’s station. In 25 areas across the U.S., including New Orleans, Detroit and Washington, DC, facilities like these provide check ups, vaccinations, and treatment for a range of conditions to kids who have no other access to medical care.

“Our screening starts with ‘do you have enough food? Do you have a place to sleep tonight?’” says Delaney Gracy, M.D., M.P.H., chief medical officer for CHF. If families need either, CHF connects them with social services. Many of the sites where the buses stop are linked with schools, so that care providers can work with school nurses or administrators to help make sure kids get asthma medication, for example. The clinics use a state-of-the-art electronic health records system to store information about their patients, not because it’s the latest high-end healthcare fad, but because it makes it possible to track the care of children who are homeless.

The nurse's station inside the bus.

The nurse’s station inside the bus.

This care helps ensure that kids arrive at school healthy and ready to learn, which is a key focus of the Children’s Health Fund. The connection between health and learning goes deep: Vision or hearing problems, poor nutrition, chronic conditions and even lack of sleep can make it difficult for kids to succeed in school and contribute to a cascade of future problems.

If you want to help the CHF make sure more kids get the care they need, visit to add your voice to the “Every Child a Chance” campaign on the site. And if all this is making you realize your own kids are probably overdue for a back-to-school exam, brush up on the vaccine recommendations for every age and read our advice on how to make the most of your child’s checkup here.

Kids who visit the bus get a book to take home.

Kids who visit the bus get a book to take home, a special touch for children who have few possessions.

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When Your Baby Is Diagnosed With A Birth Defect

Tuesday, July 30th, 2013

Lelja, Nick, and ZainLast month I received a message from a reader, Christina Schmitts, whose grandson had been born with a birth defect known as gastroschisis. I had never heard of the condition, but the fact that he’d spent nearly 9 weeks in the NICU meant it was something serious. It made me wonder not only about gastroschisis, but about how many other babies are born in the U.S. each year only to struggle with major complications during their first weeks of life.

In the case of Zain Schmitts, his parents found out during a 3-D ultrasound when his mother was 15 weeks pregnant that he had gastroschisis, which causes intestines and other abdominal organs to grow outside the developing body. “We thought it only affected his small intestines and his stomach, but when he was born it was actually his gall bladder, and his appendix, and his small and large intestine that were all outside,” says his mother, Lejla Handanovic.

More and more babies in the U.S. are born each year with gastroschisis. In fact, between 1995 and 2005, the number of cases nearly doubled. “During the time I was pregnant, there were nine other women at the same hospital that were being monitored for the same issue,” said Lejla. Doctors and researchers are working to discover the cause for this drastic jump, but so far they’ve come up short.

“Every four and a half minutes a baby is born in the U.S. with a birth defect,” says Beverly Robertson, the national director of the Pregnancy and Newborn Health Education Center at the March of Dimes in Mamaroneck, New York. This translates to about 1 in every 33 babies. Of course, these conditions range in severity. The most common defects occur in the heart, but cleft lip/cleft palate, Down syndrome, and spina bifida follow closely behind.

The causes of about 70 percent of birth defects are unknown. Some, like fetal alcohol syndrome, are 100 percent preventable. “If you don’t drink alcohol, your baby will not have fetal alcohol syndrome,” says Robertson.

Thank to an increased knowledge of the human genome, doctors and researchers are also able to have a better sense of which birth defects exist. And with the advent of 3-D ultrasounds, we can see more than a beating heart in utero and it’s easier than ever to catch potential problems.


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