Browsing Tag

Genetic Disorders

What is Microcephaly + What’s the Link to Zika?

By February 1, 2016 1 Comment
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With the increasing news coverage of Zika and it’s reported link to the birth defect microcephaly we’ve received a number of reader questions about microcephaly and what it actually means for children born with the condition.  We reached out to infectious disease specialist, Dr. Judy Stone, to answer some of your questions.

What does microcephaly actually mean (Is the brain small, does it stop growing at a certain stage, is part of the brain missing)?
Microcephaly literally means an abnormally small head. Both the skull and brain are abnormally small with microcephaly, and X-ray studies often show abnormal calcified areas in the brain and lack of normal development.

Is Zika the only way a baby can be born with microcephaly or are there other risk factors?
Microcephaly has been associated with many infections as well as genetic abnormalities, malnutrition, or exposure to certain toxins. It already happens very rarely in the U.S. due to the level of nutrition and prenatal care most women receive (although even with good nutrition and proper prenatal care, microcephaly can still occur due to certain genetic factors or infections). Even in Brazil, the “epidemic” of this birth defect is thought to be <1%. Some researchers think that some of the sudden apparent increase reflects changes in reporting rather than new illnesses. It’s also important to know that the link right now is just correlated with Zika, there hasn’t yet been a cause and effect relationship proven, but it’s enough to raise alarm bells.

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Categories: Ages + Stages, Chronic Illnesses + Conditions, Disability + Disability Advocacy, Infectious Disease + Vaccines, Newborns + Infants

The Promise of the Human Placenta Project

By November 4, 2015 No Comments
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We caught wind of an interesting new project out of the National Institutes of Health called the Human Placenta Project, and reached out to learn more. Today’s post is written by the project’s coordinator, who has a personal connection to his research.

 

In her second pregnancy, my wife, Cynthia, started bleeding at five months. She hadn’t experienced any complications the first go-round, and we were terrified.

Were she and the baby going to be okay?

Her doctor was concerned but unable to provide answers. Bleeding in the second trimester could mean any number of things: placental problems, impending preterm delivery, even cancer. The ultrasound provided limited information, and he had no other tools to diagnose the problem.

Ultimately, the bleeding stopped, as mysteriously as it had begun. The pregnancy progressed without further incident, and my son Evan was born healthy and on schedule. We soon became preoccupied with his naps, feedings, diaper changes, and all the other things that consume parents of infants.

But that feeling we had during the scare is one I’ll never forget. It shook me to my core. And I know how fortunate we were to have a healthy outcome when so many other families do not.

That was 24 years ago. Today, I work at the National Institutes of Health on a research initiative to help doctors improve pregnancy outcomes. Specifically, we’re interested in learning more about the placenta and its role in maternal and child health and disease.

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Categories: Pregnancy, Birth + Family Planning, Science 101 + Mythbusting

Your Genes May Give Your Child a Terminal Disease, But Your Parenting Can Give Them A Full Life

By May 19, 2015 No Comments
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“It’s not your fault.”

This is the one thing I wish I had told my mom so many times in my life before I lost her to breast cancer seven years ago. I wish I had expressed that it was not her fault that I was born with the genetic terminal disease cystic fibrosis. I never once blamed or resented her for the fact that I had inherited one copy of the defective CF gene from her (and also one from my father). I can only imagine that she must have blamed herself every day that I had this disease and what having it meant for my future. I worry that she felt guilt every day for my CF-laden life as a whole – something she probably felt she was half responsible for giving me, and fully accountable for dealing with as my only actively involved parent.

When a child is diagnosed with any setback – disability, disease, chronic illness, or deformity, I imagine that the emotional trauma must be similar to watching horrific battles of war take place – the war that no one comes back from and shares or repeats to anyone else.  The war no one ever asks about. The war that is relived time and time again in the mind of the parent.

I was diagnosed with cystic fibrosis when I was three months old.

Natasha Lungs Photo

After Natasha’s second double lung transplant

I had severe failure to thrive and was literally starving. The digestive system, my digestive system – stomach, pancreas, intestines – is just one of the things that cystic fibrosis causes to malfunction. It gets into every organ. But it most dangerously affects the lungs, causing lung infection after lung infection to the point of fatality at an early age or the need for a lung transplant – which is equivalent to trading one set of problems for another.  For me, it was a trade well worth it – two double lung transplants have given me more chances at life than I would have ever imagined.

But children born with anything from a missing limb to my own terminal diagnosis of CF can live a whole, although maybe unique, kind of full life. In some aspects my life is not on the same timeline as my peers, and in some aspects I have done so much more, and all of that is okay. There is no timeline to being happy or grateful. My mom gave me an empowering upbringing that allowed me to believe that I could conquer anything – that we could outlast everything that CF brought against us. Our fighting genes would not let us lose, so it never occurred to me that there were things that I could not accomplish. The things that I inherited from her, bravery, confidence, will, faith, fight, were all stronger than one copy of a defective recessive gene.

Natasha's Mom in Italy

Kim Kirker, 1961-2007

I wish I could tell her I do not blame her, or begrudge her, but champion her for how she dealt with our prognosis.  If you are a parent facing a seemingly insurmountable diagnosis of your child, protect your child but don’t shelter them, empower them, try to understand their challenges and support them, listen to them, allow them, maybe more gently than some, to live. Be sure to forge a relationship with them, fight with them and even for them, console them and push them. More than anything in the entire world I needed my mom, the most and all that she could give me as a child with a rare set of problems. She was my mom, but also my advocate, my fighter, my hand holder, my tear catcher, my laughter and our relationship was my answer to every “why me?”

I may have inherited a genetic death sentence but I also inherited a great, giant, grand will to live from my mom – all that came from her genes just as much as cystic fibrosis.

Edited by Julia Bennett

 

 


 

Resources:

The Cystic Fibrosis Foundation. Accessed May 15, 2015

The Mayo Clinic: Cystic Fibrosis. Accessed May 15, 2015

 

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Categories: Accidents, Injuries, + Abuse, Chronic Illnesses + Conditions