When both members of a couple are carriers of a cystic fibrosis mutation, there is a 1 in 4 chance that any child they have will be affected with cystic fibrosis, and a 1 in 2 chance that the child will be a carrier. New reproductive technology can help parents dramatically improve their odds of giving birth to a healthy child.
The specific reproductive technology aforementioned is called Preimplantation Genetic Diagnosis (PGD). This is an IVF procedure in which embryos are genetically tested before implantation into the uterus, allowing the selection and transfer of unaffected embryos which do not have the specific genetic condition of concern. Reproductive Biology Associates (RBA) offers PGD for individuals and families who are carriers of CF, or who have a history of CF, as well as for patients of advanced maternal age, or histories of other single gene disorders.
PGD offers a couple an alternative to agonizing over whether to terminate an affected pregnancy after prenatal diagnosis is made following amniocentesis or Chorionic villa sampling (CVS) at later stages of gestation. Since PGD is not 100% reliable and only tests for specific defects, parents should consider other prenatal genetic tests, such as amniocentesis or CVS, to confirm results.
To learn more about PGD and whether this might be an appropriate option for your family, contact RBA at 1-404-257-1900, or visit our website at http://rba-online.com. We have locations in Atlanta, Alpharetta, Lawrenceville, and Fayetteville. For specific questions about the genetics of PGD, or to discuss whether this might be appropriate for your individual situation, please contact our full-time genetic counselor at jamie.dokson@rba-online.com.
Showing posts with label CF Patient News. Show all posts
Showing posts with label CF Patient News. Show all posts
Tuesday, March 2, 2010
Tuesday, November 10, 2009
Beth Waits on Double Lung Transplant
Susan- I was inspired to read your story on your foundation’s website. I was prompted to learn more about the journey an adult woman with CF facing a double lung transplant can expect. I have a friend who this very minute is at the crossroads of her lifelong fight with CF. She is currently on a ventilator at the Mayo Clinic in Jacksonville, FL. At this point only a double lung transplant can save her, and she doesn’t have much time. We are rallying wisdom and prayers that her new lungs arrive soon.
Her family has been very involved in the NE Florida chapter of the CF foundation. Beth’s husband Jim has chaired the 65 Roses Golf Tournament in Jacksonville for the last 7 or 8 years and have raised hundreds of thousands of dollars for the foundation. It seems only fair that her lungs come soon- she is really fighting hard but struggling. You can read about her and monitor her progress on this great site set up so that family and friends can receive updates and rally together for Beth- www.caringbridge.org/visit/bethmccarthy. Jim, her husband, has been giving daily updates in the “Journal”, and visitors to the site have been leaving great and inspiring words of support in the “Guestbook” section.
She is a beautiful young woman and has tremendous family, friend, and spiritual support. Just felt compelled to write to you after reading your story. She is about the same age as you when you received your lungs. Thanks for making your story public for us to further understand.
Her family has been very involved in the NE Florida chapter of the CF foundation. Beth’s husband Jim has chaired the 65 Roses Golf Tournament in Jacksonville for the last 7 or 8 years and have raised hundreds of thousands of dollars for the foundation. It seems only fair that her lungs come soon- she is really fighting hard but struggling. You can read about her and monitor her progress on this great site set up so that family and friends can receive updates and rally together for Beth- www.caringbridge.org/visit/bethmccarthy. Jim, her husband, has been giving daily updates in the “Journal”, and visitors to the site have been leaving great and inspiring words of support in the “Guestbook” section.
She is a beautiful young woman and has tremendous family, friend, and spiritual support. Just felt compelled to write to you after reading your story. She is about the same age as you when you received your lungs. Thanks for making your story public for us to further understand.
Wednesday, August 26, 2009
Lungs 4 Joseph
Joseph is waiting for his new lungs. Check out his blog spot and also help him raise the money he needs for the transplant.
Tuesday, July 28, 2009
Monday, April 27, 2009
Susan Burroughs Wins Inspire Award
At the ING Marathon in Atlanta, team 65 Roses surprised me with the Inspiration Award. What an honor! The trophy says: "
Miles for Cystic Fibrosis Inspire Award 2009
Presented to:
Susan Burroughs
Founder of the Cystic Fibrosis-Reaching Out Foundation
Courageous, Long-Term Lung Transplant Survivor
Champion of People with Cystic Fibrosis
Atlanta, Georgia
March 27, 2009
Saturday, March 28, 2009
DAD runs to help baby daughter
Thursday, March 26, 2009 Torry Losch will run in the ING Georgia Marathon on Sunday to raise money for the Cystic Fibrosis- Reaching Out Foundation and Cystic Fibrosis Foundation. Losch is running in honor of his 5-month-old daughter, Torianna, who was diagnosed with the disease shortly after she was born.
Special PhotoTorry Losch trains for the marathon on the golf trail in Covington Place subdivision. He ran his first marathon two years ago in Las Vegas, but this time, it’s personal: Losch is running to raise money to find a cure for cystic fibrosis, a disease that affects his 5-month-old daughter.
At a glance
Cystic fibrosis is a genetic disease. People inherit it from their parents. To inherit cystic fibrosis, a person must inherit two copies of the defective CF gene - one copy from each parent. If both parents are carriers of the CF gene, their child will have a 25 percent chance of inheriting both defective copies and having cystic fibrosis; a 50 percent chance of inheriting one defective copy and being a carrier; and a 25 percent chance of not having CF or carrying the gene.
COVINGTON - Kendra Losch was in her first trimester of pregnancy when she learned she is a carrier for a rare gene that causes cystic fibrosis. Testing on her husband, Torry, revealed he is a carrier, too.That meant their child had a 25 percent chance of inheriting both genes and having the disease.Electing not to have amniocentesis to find out for sure due to the high miscarriage rate that accompanies the procedure, the couple had to wait until their baby girl, Torianna, was three weeks old to learn that she did, in fact, have the disease.That was in October. Now 5 months old, Torianna has trouble gaining weight and digesting food and has had numerous colds that easily turn into infections.She has to take medication before every feeding to help her absorb nutrients and breathing treatments every day to rid her lungs of excessive mucus.Watching their baby deal with a fatal disease is something the Losches never imagined they'd have to face."No one in our family has ever had the disease, so we had no idea we were carriers," Kendra Losch said.Cystic fibrosis is an inherited, chronic disease that affects the lungs and digestive system. It is caused by a defective gene that causes the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening infections, obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food."When my husband and I found out that our daughter had this disease, we were emotionally devastated. We felt such an overwhelming feeling of helplessness, and we knew that no matter what we did, we could not make this disease go away," Losch said. During the family's first visit to the Children's Cystic Fibrosis Center in Atlanta, they saw a flier advertising the ING Georgia Marathon, and a team called 65 Roses that would be running to raise money for the Cystic Fibrosis Foundation."Torry looked at me and said, 'This is what I can do for Torianna,'" Losch said.Torry Losch went home and registered for the marathon right away. The big day is this Sunday, where he and about 100 other runners with 65 Roses will take to the streets of Atlanta in hopes of making tomorrow brighter for all who suffer from the rare disease.The marathon is open to anyone and is not specifically intended to raise money for any particular cause. But 65 Roses team members are asking for donations from friends, family and the general public, with 100 percent of proceeds donated to the Cystic Fibrosis Foundation and the Cystic Fibrosis Reaching Out Foundation to fund research for a cure and treatments as well as help patients purchase medication.Incidentally, the team takes its name from a 4-year-old boy who couldn't pronounce the name of his illness - Cystic Fibrosis - and instead called it "65 roses." That was in 1965, and since then, the Cystic Fibrosis Foundation has affectionately used the name in its fundraising efforts.About 30,000 people in the country and approximately 800 in Georgia have cystic fibrosis. Torianna is the only sufferer that has been identified in Newton County by the Cystic Fibrosis Foundation.The disease is so rare, it often doesn't get as much publicity as other illnesses, Losch said, adding that she hopes the marathon will raise awareness as well as money.Great strides have been made in treatment even during the last 15 years. In the early '90s, the median projected life span for sufferers was 17 years. Now, it's almost 37 years. In 1955, children with the disease weren't expected to live to attend elementary school.Just three years ago, when Losch gave birth to her first daughter, who does not have the disease, newborns were not tested for the disease in Georgia, she said.It's her hope that more advances will be made so that Torianna will live to see the day a cure is discovered."When it's your child, you want her to be healthy and have a long life and do things other people get to do," she said.As she gets older, Torianna will develop a persistent cough and will have to continue with medication and the breathing treatments and subsist on a high-protein, high-fat diet to get proper nutrition."This will be a disease she'll have to live with the rest of her life. She'll have to take good care of herself," Losch said.And one day, Losch hopes, Torianna can live free of the bondage of the disease."Today cystic fibrosis is an incurable disease but through donations, we can help fund research to find a cure so that one day CF will stand for 'cure found,'" she said. To make a donation to team 65 Roses, visit http://www.milesforcysticfibrosis.org/ and click on the Atlanta link.
Special PhotoTorry Losch trains for the marathon on the golf trail in Covington Place subdivision. He ran his first marathon two years ago in Las Vegas, but this time, it’s personal: Losch is running to raise money to find a cure for cystic fibrosis, a disease that affects his 5-month-old daughter.
At a glance
Cystic fibrosis is a genetic disease. People inherit it from their parents. To inherit cystic fibrosis, a person must inherit two copies of the defective CF gene - one copy from each parent. If both parents are carriers of the CF gene, their child will have a 25 percent chance of inheriting both defective copies and having cystic fibrosis; a 50 percent chance of inheriting one defective copy and being a carrier; and a 25 percent chance of not having CF or carrying the gene.
COVINGTON - Kendra Losch was in her first trimester of pregnancy when she learned she is a carrier for a rare gene that causes cystic fibrosis. Testing on her husband, Torry, revealed he is a carrier, too.That meant their child had a 25 percent chance of inheriting both genes and having the disease.Electing not to have amniocentesis to find out for sure due to the high miscarriage rate that accompanies the procedure, the couple had to wait until their baby girl, Torianna, was three weeks old to learn that she did, in fact, have the disease.That was in October. Now 5 months old, Torianna has trouble gaining weight and digesting food and has had numerous colds that easily turn into infections.She has to take medication before every feeding to help her absorb nutrients and breathing treatments every day to rid her lungs of excessive mucus.Watching their baby deal with a fatal disease is something the Losches never imagined they'd have to face."No one in our family has ever had the disease, so we had no idea we were carriers," Kendra Losch said.Cystic fibrosis is an inherited, chronic disease that affects the lungs and digestive system. It is caused by a defective gene that causes the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening infections, obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food."When my husband and I found out that our daughter had this disease, we were emotionally devastated. We felt such an overwhelming feeling of helplessness, and we knew that no matter what we did, we could not make this disease go away," Losch said. During the family's first visit to the Children's Cystic Fibrosis Center in Atlanta, they saw a flier advertising the ING Georgia Marathon, and a team called 65 Roses that would be running to raise money for the Cystic Fibrosis Foundation."Torry looked at me and said, 'This is what I can do for Torianna,'" Losch said.Torry Losch went home and registered for the marathon right away. The big day is this Sunday, where he and about 100 other runners with 65 Roses will take to the streets of Atlanta in hopes of making tomorrow brighter for all who suffer from the rare disease.The marathon is open to anyone and is not specifically intended to raise money for any particular cause. But 65 Roses team members are asking for donations from friends, family and the general public, with 100 percent of proceeds donated to the Cystic Fibrosis Foundation and the Cystic Fibrosis Reaching Out Foundation to fund research for a cure and treatments as well as help patients purchase medication.Incidentally, the team takes its name from a 4-year-old boy who couldn't pronounce the name of his illness - Cystic Fibrosis - and instead called it "65 roses." That was in 1965, and since then, the Cystic Fibrosis Foundation has affectionately used the name in its fundraising efforts.About 30,000 people in the country and approximately 800 in Georgia have cystic fibrosis. Torianna is the only sufferer that has been identified in Newton County by the Cystic Fibrosis Foundation.The disease is so rare, it often doesn't get as much publicity as other illnesses, Losch said, adding that she hopes the marathon will raise awareness as well as money.Great strides have been made in treatment even during the last 15 years. In the early '90s, the median projected life span for sufferers was 17 years. Now, it's almost 37 years. In 1955, children with the disease weren't expected to live to attend elementary school.Just three years ago, when Losch gave birth to her first daughter, who does not have the disease, newborns were not tested for the disease in Georgia, she said.It's her hope that more advances will be made so that Torianna will live to see the day a cure is discovered."When it's your child, you want her to be healthy and have a long life and do things other people get to do," she said.As she gets older, Torianna will develop a persistent cough and will have to continue with medication and the breathing treatments and subsist on a high-protein, high-fat diet to get proper nutrition."This will be a disease she'll have to live with the rest of her life. She'll have to take good care of herself," Losch said.And one day, Losch hopes, Torianna can live free of the bondage of the disease."Today cystic fibrosis is an incurable disease but through donations, we can help fund research to find a cure so that one day CF will stand for 'cure found,'" she said. To make a donation to team 65 Roses, visit http://www.milesforcysticfibrosis.org/ and click on the Atlanta link.
Wednesday, November 26, 2008
The Amazing David Adkins AGE 53
This is David Adkins..(pictured with Barbara Crews of Scottish Rite) In his own words: Well, I'm an old man (53 - born 1955). I run three days a week 52 weeks a year come hell or high water. I have completed 4 marathons (1 Atlanta 3 New York), at least 7 or 8 half marathons (and counting). I'm a strong advocate for aerobic exercise for CFers and I'm always willing to promote and encourage CFers (really everyone, but particularly CF patients) to exercise. I attribute my good health to a combination of exercise, good heath care, positive attitude, and a happy home life (in no particular order). I have been married to the love of my life, Betti, for 15 years. We have no kids, but two cats, Bogie and Maggie. I work full time, and plan to work full time until retirement (which keeps moving forward as the market moves downward).
Friday, October 24, 2008
Zanyce
Zanyce is my 11 month old daughter who has Cystic Fibrosis. I would to THANK YOU for helping my family in a time of need. Just when I gave up all hope Cystic Fibrosis Reaching Out Foundation was there and answered my prayers.Your help is very well appreciated.
Monday, September 8, 2008
Post Lung Transplant
Diagnosed with Chronic Rejection?
Wait don’t give up yet…. By Susan Burroughs
Few things strike more fear in a transplant patient than hearing the words:
chronic rejection. I received my TWO NEW LUNGS on May 23, 2000. This winter, I was faced with that unfortunate diagnosis 8 years post transplant. I was terrified—distraught, but I knew there was hope.
Susan in Birmingham undergoing
treatment August 20
08
My transplant center, The University of Alabama at Birmingham, is one of the only centers in the southeast that does a procedure called “photopheresis” for lung transplant patients. Many transplant centers do not consider this treatment as an option. UAB, however, uses it on all of their patients in rejection, usually at the first sign of trouble.
Before I could start photopheresis, I had to have a Vortex port inserted into my chest that would stay for the duration of the photopheresis treatments. I then got a seven day dose of thymoglobulin to suppress my immune system dramatically. The photopheresis itself did not start for another five weeks. I got my first treatment on August 5, 2008. During photo, blood is removed from your port in six cycles. During each cycle, the blood is run through a centrifuge where all the white blood cells (lymphocytes) are separated off. After 3 – 5 hours, the collected white blood cells are shot up with UVADEX and then hit with UV radiation during “photo activation”. When this step is complete, your radiated cells are transfused back into your body and you are ready to go.
The point of all of this is to ‘reprogram’ your white blood cells in hopes that they will stop attacking your rejecting organ. How does it actually work? No one really knows for sure. They just know after twenty years plus of treating heart transplant patients in rejection, photopheresis has been quite successful. Over the last ten years, it has been quite successful in lung transplant patients as well.
Photopheresis isn’t guaranteed to work, but what in life is? However, this treatment has proved over and over again to stabilize the declining pulmonary functions of lung transplant patients and in most cases, the pulmonary functions have improved.
The side effects of the treatment are minimal. The medicine used in photopheresis will make you more sensitive to sunlight for about 24 hours after treatment. For this reason, I have to take some simple but very important precautions to protect my eyes and skin. i.e. wear sunglasses, sunscreen and long sleeves. For 24 hours.
The treatment for lung transplant patients is approximately 15 months and I will receive 30 treatments over the 15 month time span. I will receive 2 treatments with each visit. For the first 6 visits, I will go in 3 week intervals. For the next 3 visits, 4 week intervals; the next 3 visits, 5 week intervals; next 3 visits, 6 week intervals. Right now, I expect to be finished with the treatment by September 2009.
After my transplant, my pulmonary functions were in the high to low 90’s. They dropped to the 70’s. This alerted my transplant team to be aggressive and start the treatment right away. Now, before transplant, I lived with pulmonary functions in the mid- 20’s to mid-10’s. So even if I stabilize in the 70%. I will never regret getting a double lung transplant. I continue to remain active during the treatments by playing tennis. I thank God and my donor every day for my gift of life.
If you would like to track my progress over the next several months, please visit http://twonewlungs.blogspot.com/
Wait don’t give up yet…. By Susan Burroughs
Few things strike more fear in a transplant patient than hearing the words:
chronic rejection. I received my TWO NEW LUNGS on May 23, 2000. This winter, I was faced with that unfortunate diagnosis 8 years post transplant. I was terrified—distraught, but I knew there was hope.
Susan in Birmingham undergoing
treatment August 20
08My transplant center, The University of Alabama at Birmingham, is one of the only centers in the southeast that does a procedure called “photopheresis” for lung transplant patients. Many transplant centers do not consider this treatment as an option. UAB, however, uses it on all of their patients in rejection, usually at the first sign of trouble.
Before I could start photopheresis, I had to have a Vortex port inserted into my chest that would stay for the duration of the photopheresis treatments. I then got a seven day dose of thymoglobulin to suppress my immune system dramatically. The photopheresis itself did not start for another five weeks. I got my first treatment on August 5, 2008. During photo, blood is removed from your port in six cycles. During each cycle, the blood is run through a centrifuge where all the white blood cells (lymphocytes) are separated off. After 3 – 5 hours, the collected white blood cells are shot up with UVADEX and then hit with UV radiation during “photo activation”. When this step is complete, your radiated cells are transfused back into your body and you are ready to go.
The point of all of this is to ‘reprogram’ your white blood cells in hopes that they will stop attacking your rejecting organ. How does it actually work? No one really knows for sure. They just know after twenty years plus of treating heart transplant patients in rejection, photopheresis has been quite successful. Over the last ten years, it has been quite successful in lung transplant patients as well.
Photopheresis isn’t guaranteed to work, but what in life is? However, this treatment has proved over and over again to stabilize the declining pulmonary functions of lung transplant patients and in most cases, the pulmonary functions have improved.
The side effects of the treatment are minimal. The medicine used in photopheresis will make you more sensitive to sunlight for about 24 hours after treatment. For this reason, I have to take some simple but very important precautions to protect my eyes and skin. i.e. wear sunglasses, sunscreen and long sleeves. For 24 hours.
The treatment for lung transplant patients is approximately 15 months and I will receive 30 treatments over the 15 month time span. I will receive 2 treatments with each visit. For the first 6 visits, I will go in 3 week intervals. For the next 3 visits, 4 week intervals; the next 3 visits, 5 week intervals; next 3 visits, 6 week intervals. Right now, I expect to be finished with the treatment by September 2009.
After my transplant, my pulmonary functions were in the high to low 90’s. They dropped to the 70’s. This alerted my transplant team to be aggressive and start the treatment right away. Now, before transplant, I lived with pulmonary functions in the mid- 20’s to mid-10’s. So even if I stabilize in the 70%. I will never regret getting a double lung transplant. I continue to remain active during the treatments by playing tennis. I thank God and my donor every day for my gift of life.
If you would like to track my progress over the next several months, please visit http://twonewlungs.blogspot.com/
Monday, August 18, 2008
CF Patient News
Gavin became the Georgia State Champion for his wakeboard division (called Mini Outlaws- "Outlaws" are the highest division in amateur before going pro......, so the youngest group are called Mini Outlaws)! He had a great day and posted his best score ever in a tournament despite a run in with some choppy water!!! It was awesome! He was pretty mad when he finished his run, because he didn't have time to complete his last 2 tricks due to the rough conditions, but after asking "do you think that I can still take first place?" and my telling him that he had a very good chance of it - he calmed down a little bit.
So - he's officially been invited to compete for Georgia in the National Championships in California...........looks like we're headed out west in October!!
So - he's officially been invited to compete for Georgia in the National Championships in California...........looks like we're headed out west in October!!
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