CJG Blog

Center for Jewish Genetics blog

SAVING HENRY

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By: Amanda Kasper

This is a story about the power of love, and the promise and limits of science.
It is a story in which politics, ethics, and advances in reproductive genetics collide.
It is a story of the group of physicians who took our family 
To the outer edge of science and into the whirlwind of national controversy. 
It is a story about a family's search for a miracle, and the children who lived to tell the story.
Finally, it is a story of a remarkable little boy who taught me and countless others 
What is important and what just doesn't matter at all; 
Who showed me how to live well and laugh hard even 
In the face of odds you'd have to be crazy - or full of hope - to bet on. 
..Laurie Strongin, Saving Henry.

I picked up a book that has been sitting on my bookshelf for months now. Grad school and finals and paper writing got in the way, and the book waited for me until I was ready to sit down, curl up, and begin a story that would forever become ingrained in my heart.

From page one, I was captivated by the acknowledgements, by the photos, by the lists of Henry's Favorite Things. As someone with a strong interest and background in the sciences, and someone who is advocating for new genetic technology and genetic testing to prevent families from living the Strongin's story - this book held my fascination and empathy and love right in the palm of its hands.
 
Saving Henry is a book written about Laurie's son Henry, who was born with one extra thumb, a heart defect, and a relatively low birthweight; and two weeks later was diagnosed with Fanconi Anemia - a fatal Jewish Genetic Disease. The book chronicles their time as a family, every up and down and every single effort Laurie and her husband Allen went through over the seven years, one month, and sixteen days of Henry's life - not just to save him, but to ensure and allow and encourage Henry to live his life; the life he was given.

By far, the biggest lesson that I took with me, one that I think everyone should hold in their hearts no matter if they are sick or healthy - is not to take one single day, one single moment for granted.

Knowing that Henry's health would not always be as good as it was at this time led us to recognize the importance of living each day to its fullest. We believed that one Halloween costume was never enough and that, with its complement of calcium, ice cream was more than a suitable dinner. Over time we became masters of good living, which would later come in handy when there wasn't much to work with. -Laurie Strongin

Henry's story is filled with magic and appreciation and relization for every small thing that is actually a big one, and we should each appreciate those things no matter if we're fighting for our lives or our jobs or just to get through traffic. There is something to be grateful for each day, many things to be grateful for each day, and it is our job to notice them. To treat ourselves to them. To say I love you one more time. To share one more eskimo kiss, and eat one more Krispy Kreme donut.

The world is a better place because of Laurie, not just in the eyes of Fanconi Anemia or prenatal genetic diagnosis (PGD), a field that Laurie helped to pioneer and serve as the test subject for all at once, but in the way she is a parent to her children. That she fulfilled a lifetime of fun and special moments and love and memories in seven years worth of living, and that she was strong enough to survive possibly the worst thing in the world - the burying of a child, after doing everything, everything, in her power and with the power of science and the best doctors in the world, to save him.

This book, and Henry's story reminded me why I am so passionate about the vision and the mission of the Norton & Elayne Sarnoff Center for Jewish Genetics, and why myself and others hold it so fiercely in their hearts.

ALEX'S CHROMOSOME: THE JOURNEY TO CORRECT DIAGNOSIS

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By: Alexandra Rudolph

Imagine if you had a chronic condition and no one could find a correct diagnosis. That was the problem facing Jessica Denbo, 25. As a child, Jessica was always sick and fatigued. She visited specialist after specialist, and even her physician dismissed the idea that she could have a disorder. Years later, Jessica was finally diagnosed with Type 1 Gaucher Disease.

"My road to a Gaucher diagnosis began at a very early age. As a child I was always sick and no one could ever really figure out what was wrong. I was misdiagnosed numerous times and went from specialist to specialist — even ending up at Johns Hopkins when I was in fifth grade — with no success. My main complaint had always been fatigue, and I was never able to go out and play like other kids my age. At some point in elementary school, my grandfather saw an 'ad' about Gaucher in a Jewish publication, which included a list of symptoms. As you know, Gaucher symptoms can be quite vague, but he sent off for a few copies for my mom to give to my doctor. The idea that I had this disorder was immediately dismissed by my physician and I continued having symptoms throughout my youth.

"The summer going in to my senior year of high school, I worked as a camp counselor. Throughout the months I was there, I started having dizzy spells and went to have blood work done when I finally returned home. My doctor was alarmed because my platelet and blood counts were severely off, so he sent me to the children's hospital at UAB to see a hematologist/oncologist. After many more tests, including two bone marrow aspirations, I was finally diagnosed with Type 1 Gaucher Disease. I immediately began treatment in the spring of 2004, at the end of my senior year in high school.

"I have now been on Cerezyme for 7 years and have been able to fix much of the bone and organ damage that had already occurred, although my levels will never be normal. On a day-to-day basis, I feel the effects of the disorder in the form of constant fatigue. Even though the treatment has helped in a lot of ways, nothing has ever helped the fatigue, which has been my biggest frustration. While it is treatable, the thought of living with Gaucher for the rest of my life is definitely a hard pill to swallow. At 25, I have to worry about doctor appointments, infusions and health insurance on a constant basis. As I have grown older and become more comfortable talking about my condition, I have tried to educate my peers about genetic testing and Gaucher disease specifically.

"In terms of recommendations for prospective parents, my biggest push is towards understanding the risks and educating themselves as much as possible. My parents did everything right, they both got tested before they started a family, but at the time Gaucher disease was not on the panel. So my final recommendations would be to stay abreast on the genetic testing panel after having children and to make sure their physicians know if they are Jewish in case something new has been added that they were not tested for in the beginning."

Jessica and her family took full responsibility for pushing healthcare professionals get an accurate diagnosis. They kept asking questions, repeating laboratory tests, seeing specialists, and getting second opinions. It was her grandfather, not the physicians, who came up with the initial diagnosis.

As a future physician, and as someone who had a serious misdiagnosis as a child, I find it critical for healthcare professionals to help make the best diagnosis for patients—even if that means referring patients to another professional. As a patient, make sure you confident about your diagnosis when leaving the examination room. If you have further questions or need would like a second opinion, take responsibility for your health and ensure yourself a truthful diagnosis. Be your own health advocate.

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We are proud to announce that our Carrier Screening Program is open with our new medical provider Insight Medical Genetics (IMG). Visit our Get Screened page to learn more about our program and how to register!

CJG-Whats-In-Your-Genes

Do You Know What's In Your Genes?

What is the most valuable gift you can give to your family? The gift of good health! There are many health conditions that run in families. Knowing your family health history can alert you to the potential risk for a variety of genetic disorders . Be sure to check with your relatives for warning signs and assess your risk for hereditary cancers!

Did you know: Ashkenazi Jews are 10 TIMES more likely to have BRCA mutations, which significantly increases lifetime risks for hereditary cancers, so what does this heightened risk mean for you? Click here to learn more !