Tuesday, June 26, 2012

9 days and counting...


Life has been pretty good of late. I feel very healthy. I have been dieting since December and am down from the high 180's to the low 170's. There is little point in me losing more weight. I'm just trying to stay healthy at this point. I continue to use some of the concepts I learned from P90X and add it to my old work out routines. The Peachtree is only a week away and I think I'm pretty ready. I've been running just about everyday but mostly inside. I'm still playing softball on Monday nights so I'm getting some exercise that way too.

I just finished my month of Tobi and not a moment too soon. I have been exhausted lately. That extra 80 minutes a day of aerosols is not fun. At first, I tried to learn a new video game. Then I tried texting friends. Then I tried recording movies and watching them. Still, it's frustrating sitting there and waiting to complete my meds. The kids spend a lot of time with me downstairs which is nice. Ethan loves to play video games and Avery loves to watch Nickelodeon. Still I'd rather be swimming at the pool with them or taking them outside to play baseball.

Speaking of baseball, I throw out the first pitch in 9 days. I'm getting nervous because I haven't practiced at all outside of playing softball. I'm throwing out the first pitch on July 5, 2012 as the Braves play the Cubs. My neighbor has volunteered to throw the ball around with me. He warmed up his kid who pitched in high school and may some day pitch in college. I'm not quite at that level but I'll give him a few throws.

I found out last Thursday that I was named to the Board at the Terry College of Business at the University of Georgia. I was honored to accept this position.

Andrea and the kids are well. Ethan has gotten so competitive. Whenever we run up the stairs, this is what Ethan says, "I won. I was first, Magic (our dog) was second and daddy was last." I used to let him win. Now the kid cuts me off and the dog isn't making any friends. She lets him cut me off and then she jumps on me so that Ethan wins. He must be giving her chicken behind my back and gaining an ally.

Avery is loving camp this summer and is becoming a terrific gymnast. I am amazed at all of the things that she can do at such a young age.

For now, I'm signing off. I'm going to stretch out the arm. 218 hours and counting...

Tuesday, June 19, 2012

Throwing out the first pitch on July 5th

On Thursday, July 5, 2012, I'm very excited to announce that I'll be throwing out the first pitch at the Braves-Cubs game at Turner Field.

What some of you might not know is the significance of this occasion for me. 25 years ago this month, I was given the honor of being a batboy by the CF Foundation (picture attached). I was thirteen years old and little did I know that was the age doctors predicted my life could very well end. In fact, on September 4th this year, I will have tripled that prediction. I owe a lot of this to donors like yourselves who have worked so hard to make my life and so many others' lives better. I also owe a lot to the Cystic Fibrosis Foundation for not only allowing me to be a batboy that June day in 1987 but also for never giving up in the fight against cystic fibrosis.

Today we have Kalydeco from Vertex that is helping CF patients and there are many more drugs in the pipeline. These types of breakthroughs were non-existent back in the eighties.

That June day in 1987, Dale Murphy (the person on the far left in my batboy picture) hit a big homerun to help the Braves win the game. In 2012, Dale Murphy hit another homerun by agreeing to write the foreword for "The Drive at 35." It's pretty neat how the more things change, the more they stay the same.

I wish Wendy could be here to see the progress that is being made to save lives for cystic fibrosis patients but judging by the beautiful weather we are blessed with year after year at Wish for Wendy, I know that she is watching us from above.

I hope that you'll be able to come out on July 5th to see me throw out the first pitch but even if not, if you haven't donated to Wish yet, please do so at http://www.cff.org/LWC/dsp_DonationPage.cfm?idEvent=20587&idUser=348812. Thanks again everyone!

To the day that CF stands for Cure Found.


Tuesday, June 5, 2012

A Post on Genetic Screening from a friend of mine

Hi I have CF, But It Will Never Have Me followers. My name is Robin, and I am here to share an important message with all of you: 1 in 4 Jews is a carrier of one of 19 preventable Jewish genetic diseases. Cystic fibrosis is one of the 19 diseases we test for so keep reading!

• Not Jewish? I’m sure you know someone who’s Jewish (a friend? Neighbor? Co-worker?). Also, it’s important to note that the diseases on our panel are more prominent in the Jewish community, but not unique to Jews. For example, CF is common in Caucasians in general, not just Jews.
• In an interfaith relationship? As mentioned, many of th1 9 diseases we test are not unique to the Jews (even Tay Sachs which many think is strictly Jewish, is actually found in the Irish community).
• Don’t practice Judaism/identify as Jewish? It only takes one Jewish grandparent for you to have “Jewish genes” and thus potentially be a carrier for one of these 19 PREVENTABLE Jewish genetic diseases.
• Been screened in the past? We are finding new diseases all the time. If you have one healthy child already but are thinking about expanding your family, you were likely not tested for all 19 diseases and, as such, should update screenings between each pregnancy.
• No family history of disease? All Jewish genetic diseases are recessive, so you and your partner must be a match in order to be at risk of passing it on. A carrier does not show symptoms of the disease, but is rather a healthy person and if two people are carriers of the same disease they have a 25% chance of passing it on to their children.

So, what’s the story? What are these diseases? How are they preventable?

I work for Atlanta Jewish Gene Screen so, for starters, you can check out our website. But, I’ll try to give you Jewish genetic diseases (JGDs) basics. Atlanta Jewish Gene Screen is currently the only organization of its kind. We aim to raise awareness that there are 19 preventable JGDs because, when we first started the organization 2 years ago, a typical person (including the average healthcare professional and the average rabbi) admitted to only knowing about 3 diseases. Two years ago Randy and Caroline Gold, an active Jewish couple in Atlanta, founded the Atlanta Jewish Gene Screen when their daughter, Eden, was diagnosed with ML4. The average ML4 patient will never learn to walk or talk, will be blind by the age of 10, and will likely not live past young adulthood. Randy and Caroline knew to get tested (something that I stress because not every Jew does know this and thus doesn’t actively request it from their doctors). Nonetheless, Randy was tested by his Jewish doctor for only 2 diseases. Caroline was only tested for 8 by her Jewish doctor. Randy and Caroline didn’t know what they didn’t know. Their doctors didn’t know what they didn’t know. Turns out they carry 3 diseases between them, but are only a match on one—ML4. They have one healthy child, 6 year old Natanel, and little Eden, 4 years old, who has Mucolipidosis type IV. Today they have a healthy third child, Shai who they had through in vitro (see below when I discuss ways of preventing these diseases).

So, as Randy would say, Eden is here to save lives; her story will save lives. Randy and Caroline set out to inform everyone about the number of diseases on the Jewish panel (at the time they started the organization 2 years ago, there were only 18 diseases, by the way). So, I am here to write Eden’s story on Andy’s blog in hopes of sharing her story, a story that Andy knows all too well, and to help prevent others from going through similar struggles.

We hope to inform every doctor and have them test for all 19. We hope to inform every rabbi and hope that the rabbis will counsel their congregations, particularly the young couples who are married/getting married and therefore at risk of passing these diseases on as they start families. We hope to inform the population at large—we know that not every pregnancy is planned and thus by the time you get to the doctor it could be too late. We also know that not every Jew is affiliated with a synagogue or gets married by a rabbi. So, we head to local festivals, happy hours, etc and hope to education everyone, particularly those in their 20s and 30s who are at risk of passing these diseases on. These diseases are preventable, but only if you get screened in advance and can take action accordingly. So, in addition to the educational component of our organization, we also host a number of community screenings a year and inform people how to get screened for the full panel of diseases by their doctors or though us if they can’t make it to a community screening date. We have also advocated with insurance companies and we’re happy to announce that right now, the cost of screening is only $25 if you have insurance (it was thousands of dollars when we started 2 years ago). A simple blood test is all it takes to learn if you’re a carrier—spread the word and get tested! Knowledge = options.

What are the options for prevention?
The most common and exciting way to prevent JGDs is through in-vitro fertilization. Through a process called PGD (pre-implantation genetic diagnosis) an embryo made from the mother’s egg and the father’s sperm (note that if you are gay and considering egg or sperm donation to have a child, this information is important for you to know as well) can be tested when it is just 8 cells. Because, as I mentioned above, each pregnancy has a 25% chance of having the disease, an embryo can be tested and one of the 75% /healthy embryos can then be implanted in the woman. 100% your child, 100% JGD free this is how Randy and Caroline conceived Shai). Other options include egg or sperm donation, surrogacy, adoption, or trying to conceive naturally and terminating a pregnancy if needed. Atlanta Jewish Gene Screen provides genetic counseling to discuss all of your options should you be a carrier match with your partner. You can marry who you want, you can have healthy children no matter what. You just need to get tested to be sure.

I think that covers the basics of JGDs. See a list and information on all 19 JGDs on our website.

Here’s a summary:
1. 1 in 4 Jews is a carrier of one of 19 PREVENTABLE Jewish genetic diseases
2. It only takes one Jewish grandparent for you to potentially be a carrier
3. A carrier is a healthy person
4. Not every doctor knows about all 19 so request all 19 when you go to get tested
5. A simple blood test is all it takes
6. This information is important for Jews, non-Jews, gay and lesbian couples, those in serious relationships and those who are single, those who have a healthy child(ren) but are considering expanding their family—everyone should know this information!
7. Knowledge = options

I hope you found this post interesting and informative. Please keep in mind that knowing you are a carrier for a JGD is GOOD news because it means you can prevent having a diseased child. Spread the word. Get tested, and don’t hesitate to contact me if you have questions. Robin Harpak: rzharpak@gmail.com. Thanks, Andy for allowing us to reach a few new people via your blog. Thanks to all of Andy’s followers for helping us spread the word!

Monday, June 4, 2012

My little miracle in sooooooo many ways

My daughter Avery took the bus to camp for the first time this morning. Andrea videotaped it and sent it to me. While the video only lasted 30 seconds, the miracle of Avery Leah Lipman going to camp today has taken far longer...let's say nearly seven decades. Thanks to one special man, Avery got on the bus this morning.

My lucky number has always been six and it's been difficult to explain why, however; this morning I thought of the six miracles that occurred to get my daughter to camp this morning. Let's start from the beginning...

Miracle One began in Europe during World War II

My Nana Rose and I were talking last night about her perils during the Holocaust. I mentioned how I read my cousin Andrea's emotional story about her battle and she said her time there was more awful than anyone could write it. She said it was so horrible. She watched as friends and family were shot and killed. She hid under clothes. She saved a baby whose parents were shot and killed. She came to the United States without skin on her arms from the disease and bacteria that existed while they waited for help. My grandmother was a survivor of the Holocaust. You can read my cousin's beautiful letter on my Mother's Day blog. My grandmother escaped Nazi Germany by hiding within the walls of a truck. She said a Russian man built a second wall for her and my grandfather to hide in. The Nazi soldiers checked the truck and somehow did not hear them. That was the first miracle that got my daughter to camp because my grandmother at that time was pregnant...with my mom Eva.

Miracle Two began in the early seventies

My mom and dad had Wendy in the winter of 1970. Little did they know that Wendy would have cystic fibrosis. Wendy only lived 16 days. Had she survived (which I wish she would have) I may never have been born because it's always a risk to have 2 siblings with CF and there was a 25% chance I would have CF. Losing Wendy was devastating for my parents. I know they considered not trying to have me because it was risky to try to have another child that could have cystic fibrosis. They could have chosen to adopt at that point. Still they went ahead and tried to have me. That's another reason my daughter boarded the bus this morning.

Miracle Three began in 1973

I was born with cystic fibrosis in September of 1973. Doctors told my parents I probably would not see my teens meaning it was virtually impossible for me to have children myself. The dream of having Avery was just that...a dream.

Miracle Four began in 1993

I'd given up on life as a sophomore and even a junior in college and considered suicide. What was the point really? I was living with a disease that was killing me minute by minute every day. Then at the lowest of lows, I played in a basketball game that would change my life and perhaps change my death.

Miracle Five began in 1999

My doctor had informed me that male patients with CF had a 2% chance of having a child. I decided to get tested. That year I found out that I was not able to have children...officially.

Miracle Six began in 2005

After repeated attempts to get pregnant through In Vitro Fertilization, Andrea and I decided we'd give it one last shot. We knew our odds weren't the greatest but it was our dream to have children. That year we found out that we were pregnant.

Avery Lipman was born February 17, 2006 marking a truly amazing journey, one that she today knows very little about but I will be sure to tell her as she gets older that six miracles occurred to get my six year old on the bus.

Avery shouldn't be here today.

I shouldn't be here today.

My mom shouldn't be here today.

My grandmother shouldn't be here today.

The thing is that all of us are here because of the amazing deed of one special man who let my grandparents hide in his truck. I'll never know his name nor do I know if he is even alive today yet I owe him my life and I am indebted to him forever.

Thanks to him, little Avery went to camp this morning.

I hope that everyone is well.