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Monday, April 7, 2014

Genetic Screening - Really, you should do it!

Shalom y'all!

I read a very sad story today.  The saddest part of the story was that it could have been prevented.  You see, the story begins with two loving Jewish kids - Randy and Caroline.  They had a love that blossomed very quickly after they met.  They dated for 8 months, got engaged and were married 3 months later!  They were truly in love and excited about beginning a family.

Their first child, Natanel, was born just 15 months after they were married.  However, Randy and Caroline wanted a bigger family, so Eden was born two years later.  When Eden was three months old, Caroline started to worry that something wasn't quite right.  She was not advancing and hitting all of those milestones that other kids were reaching.  Even though the pediatrician continued to reassure Caroline that every child develops differently, both she and Randy were concerned.  So, they went to see a neurologist who did an MRI on Eden's brain.  What they were told changed their lives completely.  Something was the neurologist referred them to a geneticist.

When the geneticist told Caroline and Randy he thought it was a genetic disease, they were shocked.  They had been tested before they were married.  However, after two agonizing weeks, the diagnosis was confirmed.  Eden had ML4 - a preventable progressive neurological disorder called Mucolipidosis Type IV. Eden's mental development was halted at only 18 months old...and she is expected to be blind by the age of 12.  What was more upsetting was that Caroline and Randy knew they were tested - or so they thought.

As it turned out, Caroline was only screened for 8 of the 16 Jewish genetic diseases while Randy was screened for 2.  Randy and Caroline never asked, "Why us?"  What they did instead was to make sure that Eden's story was told to anyone and everyone.  They wanted to make sure this never happened to another family.  They worked to create a comprehensive education program for doctors, rabbis and young couples. They lobbied insurance companies and medical labs to make genetic testing standard...more accessible with lower costs.  Their work was inspirational - and the Marcus Foundation and Emory University School of Medicine created JScreen - a web-based national screening program for the 19 most common Jewish genetic diseases.

While JScreen is targeted at the Jewish population, the site offers expanded screening panels to check for a total of 80 genetic diseases.  For those couples that are "mixed" or of different cultural backgrounds, this expanded screening panel could be very helpful.  For further information - please visit You can also contact Karen Arnovitz Grinzaid, the Senior Director for JScreen @ or 404-778-8645.

Eden's Story was written by Debra Goldschmidt, as told to her by Caroline and Randy Gold for JScreen.

This is of extreme importance - if you are interested in starting a family (and really for your own knowledge), it is vital to get screened.  Prevention and/or education is helpful and can prepare young couples for the future.  BTW - if couples are at risk of carrying certain genetic diseases, there are ways to prepare.  There are also ways to have children without the fear of passing on a genetic disease.  However, the FIRST and most important thing to do is to be aware.  Get's pretty simple with JScreen.  Go to the website and learn all about it.

Rabbi Erin Boxt

Tuesday, April 1, 2014

The Experience of "Not being remembered"

Shalom Y'all!

         This past weekend, I drove to Columbia, SC to meet with several of my High School classmates to begin planning our 20th reunion.  Whenever I go to Columbia, there are always two women who I visit – probably the two most important women in my life until I met Batya.  One, Claire Lilly Boxt, resides in a grave at the Hebrew Benevolent Cemetery in downtown Columbia.  The other, Betty Rhoad Lilly, the mother of Claire Lilly Boxt (and my Nana), resides at the Presbyterian Home right off of I-20 just outside of Columbia.
          Claire Lilly Boxt, my mother, died on December 1, 2004 and I have vowed to visit her every time I am in Columbia.  These are not usually very long visits – but long enough for me to say hello, catch my Mom up with whatever is going on in my life and to kiss her Headstone. To say my mother and I had a challenging relationship would have been an understatement.  However, she was/is my mother and I will always visit, no matter what.
Betty Lilly, my Nana, will turn 90 years old this year.  Visiting with Nana has become somewhat more challenging as time has moved forward.  You see, Nana has Dementia and no longer remembers who I am.  As a matter of fact, when I visited with her on Sunday, she asked me if I was married 3 times.  Unfortunately, in my line of work, I see this way too often.  I will admit that the first time I visited someone with Dementia or Alzheimer’s; it was very difficult to understand what was going on. 
One of the doctors said to me the following: “No matter how hard it is for you…it is always harder for them.”  He explained that for those who are getting older, it is extremely difficult (at least at first) to feel as if you are losing your memory…losing the most precious of thoughts, images and information you may ever have.  My sister texted me shortly after I left, and asked if Nana remembered who I was.  I replied, “I don’t think so.”  Bekki then sent me a frownie face text.  I replied, “Unfortunately, I see this every day.”  She replied, “Not from your Nana.”
As I was driving home, back to Marietta, I began to think about what Bekki said – and how I responded.  You see, the losing of one’s memory is one of those unexplainable things.  There may be science behind it, but it is something we may never truly understand.  You might think that it should be more difficult for me that it is Nana who is not remembering me…as opposed to the family member of a congregant.  However, for me, it is very much the same.  As a rabbi, I find myself in situations all the time that may be perceived by someone as miserable.  And, do not get me wrong, sometimes I have to take a breath and a break.
You see – I buried a 6 week old child last summer.  Everything since then has been put in perspective.  When my 90 year old Nana doesn’t recognize me – for sure, it hurts.  However, Nana has lived a full and amazing life.  She is the mother, grandmother and great-grandmother of an entire family of people.  She has influenced a great deal of people.  It is not that I have no feelings or am inhuman.  It is, though, that I appreciate all of the many things that I will always remember about Nana – even when she doesn’t remember them.  And, even though she did not recognize or remember me, she treated me and loved me as if she did – and no one can take that away from me.      
          So, what does this story have to do with Parashat Metzora from the Book of Leviticus?  This week, as last week, we read about Tzaraat, often mistranslated as leprosy or skin disease.  Truthfully, what Tzaraat represents or symbolizes is much more important than what it actually is.  What is represented is something bad…a disease, a plague, who knows.  When I made the commitment to visit with Nana – it does not matter how badly or sad I feel when I realize I am not remembered.  I still love Nana and deep down I know she loves me as well.  She may be afflicted by something unknown or unexplainable…who knows?  However, the Tzaraat appears when I forget to visit and love her.
I bet you thought I was referring to her sickness.  Well, gotcha!  Truth is, it is up to us to show love and support for those in our lives – regardless of what is happening to them.  When it is the hardest for us, we must recognize it will always be harder for them.  Just as homes can be affected by Tzaraat, as in this week’s Parasha, so can our hearts.  If we allow ourselves to turn away or ignore the pain of others (even if it pains us to see our loved ones in this way), then we are afflicted with Tzaraat.
Parashat Metzora provides answers for how to cure our homes from Tzaraat.  We can take the same cure and apply it to our own hearts.  If we shut out and ignore, the disease is certain to stay.  However, if we accept and reach out to embrace, then the disease goes away (even if only temporarily).  I guess that is the answer I was looking for.  Yes, I am saddened by the condition my Nana is in.  However, I have so many years and years of memories, love and experiences that enable me to embrace Nana, even as she loses more of her memory.  It is ok to break down and cry…there is no need to always be stoic.  However, I choose to think of the happiness and the great fond memories I have. 

My prayer for us is that we may take some time today and reach out to those in our families and circles of friends with whom we may have lost touch.  Life is not infinite – it is finite.  Therefore, we should always take advantage of the time we have.  Never forget to say I love you…never forget to hug and kiss…and most importantly never forget those who made us who we are today.