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Mothers take note…

July 23, 2012

I still can’t believe after 13 years, my mother is not here.  Taken away from us in her sleep from a heart attack, a moment in time that will always remain fresh as though it was yesterday.  While my mother was over-weight, had high blood pressure and had a family history, it still came as a terrible shock because she had gone to her doctor seeking help since she wasn’t feeling well. Unfortunately, that doctor told her she had a virus and did not bother to run critical tests that would have signaled the impending heart attack that ended her life at 52.  In one of our lasts conversations, she told me the doctor and nurse ran over to her as she got up from an EKG because she had gone so pale they thought she was going to pass out. Hindsight tells us this was because her blood was not circulating due to her clogged arteries. They did another EKG but the results of that test never surfaced in court documents.  My mother asked her doctor if she should go to the emergency room but regrettably she explained to me that he told her, “if you want them to tell you that you have a virus then go”.  She felt silly and trusted him so she went home to have Jello and Gatorade as he suggested, which was what I found next to her bed when I arrived after learning she was dead.  It is hard to ignore the obvious medical issues that led to this horrific event, but it was the gorilla in the room that seemed less obvious…Canavan disease.  I remember lying in bed after Jacob’s diagnosis…to weak and broken hearted to stand.  My mother was next to me and I told her I worried deeply for her.  She looked at me dumbfounded.  She wondered how I could feel any worse for her than for myself, and as I explained, it was because the pain would be double for her.  She would ache for her fatally ill grandchild and for her only daughter broken hearted by such a terrible diagnosis for her only child.  I often wondered if it would be too much for her to bare, and in the end it was.  When she called to tell me she was the Canavan carrier and had passed it to us, she was inconsolable.  I lightened the moment by telling her “Thank God”!  She immediately stopped crying and asked, “why”?  Having grown up with parents who had a miserable marriage, had my father been the carrier, it would have been one more thing she would have despised him for.  My mother quickly agreed with my logic and moved on to another conversation.  For that moment, it seemed to patch her wound, but I believe the wound was far too deep.  My mother also had the burden of knowing she played a crucial role in steering my life at a most critical time.  I had been seriously dating my current husband at the age of 21 when she took a strong stance against the relationship; she wanted me to marry someone of my own faith -Jewish.  Being Catholic and from the “other” side of town, my current husband did not fit the bill.  Unbeknownst to me, my husband confronted my mother at that time and told her, “no one is going to love your daughter like I do and life is hard enough so why not just let our relationship run its course”? My mother in the way she only knew how was unrelenting and told him “fine, but I am not going to have anything to do with it”.  My husband knew that was the kiss of death; my mother was my world and her approval meant everything to me.  He asked her: “so she will just end up marrying a rich Jewish asshole from the right side of town”?  My mother replied, “why shouldn’t she”?

 

Three years later I did and one year later Jacob was born.  Turns out there was a 1 in 10,000 chance that I would marry a carrier and I don’t know what the statistics are for marrying a rich Jewish asshole but that is another story.   While we never spoke about it, I can only imagine the guilt and responsibility she must have felt and as it turned out it was something she could not live with.  Her absence remains at times unbearable but something I have had no choice but to learn to live with.  I am reminded of her every day in my strength to battle Canavan and have moved mountains because of the fierceness I inherited from her to protect and stop at nothing for my children.  And in her death, she taught me a most valuable lesson; to only want happiness for my children regardless of what I think that is or whoever that may be.

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10 fingers, 10 Toes

July 6, 2012

10 fingers 10 toes…

The mantra of new moms expecting…in other words please let my baby be healthy and ok, but that’s not always the indicator. When your baby is born with 10 fingers, 10 toes, a perfect lip and a high apgar there is that moment of sheer relief, but when your child is then diagnosed with a rare fatal illness a few months later that moment is ripped from your heart along with your breathe from the blow of learning your child is sick…very very sick. I remember Jacob’s diagnosis as if it was yesterday; to this day, I still can’t believe I have a child with Canavan disease. Despite all of my requests for genetic testing, the one test I did not receive was the test to determine if I was a carrier for Canavan, and, indeed I was. Since the Canavan test was not considered standard at the time, my geneticist decided not to offer it to me. I would later learn in open court during testimony that she was well aware the test was available, but because it was not considered standard by ACOG (American Congress of Obstetricians and Gynecologists) she was not legally responsible to offer it to me although I requested any testing that was available. In 1995, had the internet been what it was today, I would have been an informed patient, but in those days, we solely relied on our medical professionals. Twelve years later when I became pregnant with the first of two daughters I had every test available to ensure I had done everything humanly possible to be sure I was having a healthy baby. I even opted for a 20 week amnio that would draw enough fluid to look for NAA (an acid elevated in Canavan children). Even though my second husband was not Jewish and tested negative for the 80 or so identified mutations for Canavan, I wanted to be sure he was not carrying a gene yet to be determined. I opted for the same testing and any additional genetic test available when I became pregnant again with my second daughter. When I tell friends or people I meet about my testing history, the amnio seems to hit a nerve because of the rate of miscarriage which is, according to a 2006 study, 0.06%, or 6 miscarriages out of every 10,000 births. The more popular AFP screening holds a 5% false positive rate but is a simple blood test. For me, accuracy was more important than anything else and nearing 40 with my 2nd and 3rd pregnancies, amnio was the clear choice. As a strong proponent that every expectant couple has the right to be as informed as they choose to be, I was elated to read an article in today’s (July 6, 2012) Wall Street Journal announcing a new blood test that is able to sequence the entire genome of a fetus using only a blood test from the mother, exhibiting a noninvasive way for parents to determine if their babies will be born with genetic conditions. This will undoubtedly be very encouraging for expectant parents and of course it provides expectant couples knowledge, information and choices. In my case, my geneticist took the choice and the control of my pregnancy away from me when she decided not to offer me the Canavan test, despite it being my pregnancy, my body…my choice to do what I want with the information provided. Thank you researchers at Stanford University…one more step towards our right to informed pregnancies and choices!

by Jordana Holovach

Mother’s Blood Shows Birth Defects in Fetal DNA

 

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Shop at Saks Greenwich for Charity!

January 25, 2012

Saks Fifth Avenue has designated Jacob’s Cure to receive 5% of purchases made with a Saks credit card by our supporters in February 2012.   If you have shopping to do, please go to Saks in Greenwich and choose Jacob’s Cure as the beneficiary of your purchases. You can make your designation at the register [...]

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Enzyme Replacement Therapy as New Treatment for Canavan Disease

October 14, 2011

Jacob’s Cure and the Canavan Research Foundation have recently teamed up to co-fund a new project exploring the application of Enzyme Replacement Therapy for Canavan Disease. The research project is being led by Dr. Reuben Matalon of the University of Texas Medical Branch and Dr. Ronald Viola of the University of Toledo. Dr. Matalon was [...]

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Katy Perry, Julie Bowen, Sting…

October 11, 2011

The Jacob’s Cure bowling event to strike out Canavan disease is quickly approaching, and we have some incredible packages available in our silent auction. Some highlights include: A Hollywood package including set tours of Modern Family and Cougar Town, VIP tickets to “The Talk”, salon services at Joseph Martin, one night in a deluxe room [...]

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Help Us Strike Out Canavan Disease!

September 28, 2011

Dear Friends, This is just a note to thank you for your patience with our postponement of the bowling event from our original date in April. As many of you know, Jacob suffered a severe complication from a routine neurological procedure. The complication led to a brain clot which was relieved by emergency surgery and [...]

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The 2011 Canavan Research Summit & Family Conference Video

September 9, 2011

Our Jacob’s Cure Canavan Research Summit & Family Conference, held on June 3-5, 2011 brought together researchers and families. The researchers were able to learn from and be inspired by the families, and the families were given hope after learning of new treatments on the horizon.  Jacob’s Cure would like to say a big thank [...]

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Two Unique Cases of Canavan Disease

August 29, 2011

Did you know that the severity of Canavan disease can vary from child to child? For example, one of our kids, Lily, has a very mild form of the disease. You would never know from looking at her that she is anything but perfectly healthy, and if it wasn’t for her seizures, she might never [...]

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2011 Canavan Research Summit Synopsis

July 5, 2011

By Dr. Paola Leone This year marked the second Canavan Research Summit, where 40 of the world’s top scientists gathered to share data addressing Canavan disease pathology, diagnosis and potential treatments. The 2011 Canavan Research Summit was chaired by Paola Leone, PhD, and Darryl De Vivo, MD and took place in Harrison, New York on [...]

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Our Beautiful Children

June 10, 2011

This past weekend Jacob’s Cure had the distinct honor of hosting our 2nd Jacob’s Cure Canavan Research Summit and our 1st Canavan Family Conference. As most know, Jacob’s Cure began 10 years ago as the result of a neighborhood letter writing campaign with the sole mission of raising money for research aimed at a cure. [...]

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