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r553x/delta f508
- Thread starter kathiel
- Start date
I do not know of any specific information regarding these two genes, but I do know that the R553x is a non sense or stop mutation and there is a new study regarding people with genetic deseases based on these type of mutations. Nonsense mutations are single point alterations in the dna that prematurely halt the translation process, producing a nonfunctional protein (you can check for more info @ www.ptcbio.org). In other words our kids are not capable or making a full length protein. Anyway this study is conducted by PTC therapeutics. and it is simply a drug that allows the cellular machinery to bypass or skip the nonsense mutation and continue the translation process, restoring the production of functional protein. The good thing about this drug is that it does not have antibiotic properties and so far does not have any serious side effects. I think they are getting ready to start the second phase which is testing the drugs in people with CF that have this type of mutations. I'm hopefull this drug might one day help our kids.
My grandson, Ryan, has the delta F-508 and R553X combination. Up until he was two years old, the only symptom he exhibited was really smelly stool. We used to joke about it, not realizing that it was symtom of CF. Shortly after Ryan turned two, he started having rectal prolapses. After several trips to the emergency room, he was admitted to UNC Children's Hospital, where he was diagnosed with CF.
During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
At this stage, Ryan is a healthy, happy, active three-year old.
If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
At this stage, Ryan is a healthy, happy, active three-year old.
If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
My grandson, Ryan, has the delta F-508 and R553X combination. Up until he was two years old, the only symptom he exhibited was really smelly stool. We used to joke about it, not realizing that it was symtom of CF. Shortly after Ryan turned two, he started having rectal prolapses. After several trips to the emergency room, he was admitted to UNC Children's Hospital, where he was diagnosed with CF.
During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
At this stage, Ryan is a healthy, happy, active three-year old.
If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
At this stage, Ryan is a healthy, happy, active three-year old.
If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
My grandson, Ryan, has the delta F-508 and R553X combination. Up until he was two years old, the only symptom he exhibited was really smelly stool. We used to joke about it, not realizing that it was symtom of CF. Shortly after Ryan turned two, he started having rectal prolapses. After several trips to the emergency room, he was admitted to UNC Children's Hospital, where he was diagnosed with CF.
During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
At this stage, Ryan is a healthy, happy, active three-year old.
If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
At this stage, Ryan is a healthy, happy, active three-year old.
If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
My grandson, Ryan, has the delta F-508 and R553X combination. Up until he was two years old, the only symptom he exhibited was really smelly stool. We used to joke about it, not realizing that it was symtom of CF. Shortly after Ryan turned two, he started having rectal prolapses. After several trips to the emergency room, he was admitted to UNC Children's Hospital, where he was diagnosed with CF.
During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
At this stage, Ryan is a healthy, happy, active three-year old.
If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
At this stage, Ryan is a healthy, happy, active three-year old.
If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
My grandson, Ryan, has the delta F-508 and R553X combination. Up until he was two years old, the only symptom he exhibited was really smelly stool. We used to joke about it, not realizing that it was symtom of CF. Shortly after Ryan turned two, he started having rectal prolapses. After several trips to the emergency room, he was admitted to UNC Children's Hospital, where he was diagnosed with CF.
<br />
<br />During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
<br />
<br />My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
<br />
<br />Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
<br />
<br />At this stage, Ryan is a healthy, happy, active three-year old.
<br />
<br />If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
<br />
<br />During this same period, before my grandson was diagnosed, my daughter was expecting her second child. As part of her routine prenatal testing, her doctors discovered that she was a carrier of the R553X mutation. So they tested my son-in-law and discovered that he was a carrier of the delta F-508 mutation. The doctors performed an amniocentesis and discovered that my soon-to-born grandaughter was not even a carrier. Obviously, everyone was relieved.
<br />
<br />My daughter asked if my grandson should be tested, and the doctors remarked that it was highly unlikely that he had CF because he didn't have any symptoms and to wait until his routine two-year checkup. Just a short time later, the rectal prolapses started.
<br />
<br />Ryan turned three about two months ago and is doing fine. He's taking enzymes and special vitamins, and does his pat-pat therepy twice a day. His height is in the 49 percentile range and his weight is around the 78 percentile range. His lung funtion is way above normal. Overall, his general health is better than just about anyone else's kids that I know. I think he has had only had one cold since he was born. His CF doctors take throat cultures every three months. If they detect the presence of harmful bacteria, Ryan goes on his TOBY treatment for two weeks, which so far has been effective at clearing up everything.
<br />
<br />At this stage, Ryan is a healthy, happy, active three-year old.
<br />
<br />If you are interested, you can get on the PTC mailing list and monitor the progress of PTC-124. Just go to WWW.PTCBIO.COM and register.
Kathie, we have a great resource here that can help you.
Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
Kathie, we have a great resource here that can help you.
Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
Kathie, we have a great resource here that can help you.
Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
Kathie, we have a great resource here that can help you.
Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
Kathie, we have a great resource here that can help you.
<br />
<br />Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
<br />
<br />If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
<br />
<br />
<br />
<br />Under the families forum the top thread is "Ambry Genetics" who is a sponsor here.
<br />
<br />If you post a quick note there about what mutations your daughter has Steve from Ambry will respond with the information they have which is normally better than anything you find online.
<br />
<br />