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Old 02-19-2008, 06:15 AM   #1
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Desperate for info on rare mutation P5L- PLEASE!!!!

Hello-
I am desperate for info about mutatuion P5L- my newborn son is going through CF tesing and it has been determined through genetic sequencing that he has both the delta 508 mutaion and a 2nd mutation P5L. The genetic counselors and CF center we are working with have no inforamtion on P5L. My husband and I are wating for our results to see if one of us is a carrier for both mutations. ANY ONE KNOW OF THIS Mutation and what manifestations if any it holds????? PLEASE

 
Old 02-19-2008, 08:35 AM   #2
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Ratatosk HB UserRatatosk HB User
Re: Desperate for info on rare mutation P5L- PLEASE!!!!

I'm assuming your child was tested either by qwest (sp) or had ambry genetic testing. There's a person who is at Ambry who has a wealth of information regarding cf genetic testing results -- his name is Steve Kiehls (not sure of the spelling). Imagine you could try researching CF and ambry or genetic testing and see what you come up with. Both those companies test for thousands of cf mutations.

Also, in order for your child to have cf -- each parent would carry one gene. My child has two copies of delta f508, which mean my spouse and I each carry a copy of that gene.

And it's very hard to determine how your child's symptoms will progress. There are different factors. Early detection is GREAT because you can be proactive and focus on keeping your child's lungs healthy. Being that your child has one copy of the delta f508 gene, that could mean pancreatic insufficiency and the need for digestive enzymes to help with digestion of fats and proteins.

Last edited by Ratatosk; 02-19-2008 at 08:54 AM.

 
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Old 02-19-2008, 09:58 AM   #3
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Re: Desperate for info on rare mutation P5L- PLEASE!!!!

thank You for responding. We are not sure yet if my son has inherited a copy from myself and my husband or if he inherited these mutations from just one of us. We are in the process of being tested, waiting for the results 9always waiting The frustrating part is that if the results indicate that he has CF- there is no research if it will be typical CF or atypical CF. No one seems to know what this particular mutation affects. So far he is symptonless- but that means nothing.


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Last edited by moderator2; 02-19-2008 at 02:35 PM. Reason: please do not ask members to post against the rules

 
Old 02-19-2008, 11:34 AM   #4
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Ratatosk HB UserRatatosk HB User
Re: Desperate for info on rare mutation P5L- PLEASE!!!!

Here's the correct spelling of his name -- Steven Keiles MS,
Director of Genetic Services at Ambry Genetics -- they're located in California.

As far as which parent is responsible for giving your child CF -- Both parents have to be carriers, which means each of you (mom & dad) each gave one CF gene to your chilld.

It's hard to predict the severity of a mutation -- a lot depends upon lifestyle (being proactive), culturing any bugs which can cause lung issues, being able to maintain a good weight. CFers are born with normal lungs; however, with increased infections and thick sticky mucus, evenutally the lungs will be affected. To put it bluntly, there's no such thing as mild CF -- CF is a progressive disease and eventually there will be symptoms of some sort or another. Some genetic mutations -- like the delta f508 affect the pancrease and digestion. Some Cfers have lung issues, others tend to have more digestive issues, others sinus problems.

DS tends to have digestive and sinus issues; however, he has cultured CF bugs -- pseudomonas, steno. Malt, H. Influenza.

Last edited by moderator2; 02-19-2008 at 02:35 PM.

 
Old 02-19-2008, 02:12 PM   #5
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Re: Desperate for info on rare mutation P5L- PLEASE!!!!

Thank You-
I was not aware of the rules, I appreciate your help and Knowledge. this is all so new and I am trying to just figure it all out. I am beyond shocked with this, and this is my first born.
I will hopefully know something within the week

 
Old 04-01-2008, 10:37 AM   #6
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Re: Desperate for info on rare mutation P5L- PLEASE!!!!

Hello,
I wanted to clarify a point about genetic testing, gene mutations and CF diagnosis. First, I want to say that I do not mean to contradict Ratatosk as she is VERY knowledgeable about Cystic Fibrosis. I am not a geneticist, but it is my understanding that USUALLY, in order for a person to be born with CF, they must receive a copy of a defective gene from each parent. It is my understanding that each parent can donate different mutations and the child still have CF. However, it is possible, but much less common to receive a defective gene from one parent and have a brand new mutation of the other allele. It is also theoretically possible for neither parent to be a carrier of KNOWN mutations and the child to have TWO brand new mutations and still have CF. The fact is, there are thousands of known mutations and most likely many more that are unknown. Each mutation had to happen the first time by "accident" before it could then be passed down. There are also the polymorphisms and variants which differnt doctors have different terminology for. Some say the mutations are "similar to" or "mimic" CF but dont call it CF. This seems silly to me....if it walks like a duck and quacks like a duck...if the treatment improves the symptoms, it shouldnt matter what it is called. But unfortunately, this is a very complex and confusing illness and the research is ongoing and there is still much to be learned. The name Cystic Fibrosis is very much a misnomer to begin with. There are no cysts and they dont fibrose. But insurances and government agencies get tied up in "definitive diagnosis" and try to deny coverage, etc without a label. The most important thing is treating the symptoms no matter what its called.
Ratatosk, I have read through many of your posts and appreciate your wealth of knowledge. I personally have a 2 year old daughter with CF who is homozygous Delta F-508. Her nutrition is our biggest challenge, but her health overall is pretty good, all things considered. I am a NICU nurse and sometimes I feel like I know too much. And it all really scares me and overwhelms me. I have a really hard time living each day knowing that my beautiful, intelligent, happy, amazing, sweet baby has a 50% chance of dying by the time she is my age (37). I live in fear, knowing it will get worse, trying so hard to protect her and dealing with the challenges. I put on a brave face and everyone thinks Im the champion of handling it all. But really its just a mask. Sorry. I needed to vent. I probably need to vent a whole lot more, but then I risk completely falling apart. Im going to keep reading and keep trying to deal. What I do know is that I would not give up my daughter for the world. She really is amazing and she is worth all of it past and everything to come. Thanks for listening.

 
Old 04-01-2008, 11:54 AM   #7
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Re: Desperate for info on rare mutation P5L- PLEASE!!!!

I was just trying to give a simple answer of two carriers have a 25% chance of having a CF. And I tend to get a little sensitive when I read things regarding "not knowing if the defective gene is from DH or DW". All too many times hear comments that an grandparent blames the inlaw for the child having CF. My own MIL wanted to have genetic testing done so she could prove that SHE wasn't responsible and could tell everyone else that the "bad gene" comes from her husband's side of the family 'cuz they're always sick. Sigh.

 
Old 03-28-2011, 04:30 PM   #8
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Re: Desperate for info on rare mutation P5L- PLEASE!!!!

Hi there! My son carries these two mutations, one from each parent, and was diagnosed with CF shortly before his first birthday. They made him retake the sweat test twice, because the cut off level of having CF was 50, the first time he was 49, and the second time he was 51. So a few points lower and he would not have had CF. Also, a personal friend of mine is a pediatrician who studied at another well known Philadelphia children's hospital and he said a few years before my son was tested, the cut off level for the sweat test was 60. We live in the Philadelphia area and are blessed to be so close to CHOP, Children's Hospital of Philadelphia, which is one of the most prestigious and Nationally recognized Children's hospitals in the country. That being said, we didn't get a lot of information on the specific mutations he carried either. It seems they treat all 'CF" cases the same. On a positive note,my son,who will be 4 this coming weekend,has no apparent symptoms of the disease. His blood tests, urine tests, stool and chest x-rays come back normal every time we visit the CF Dr's at CHOP. I did not agree to administer the albuterol daily, but we did do the chest PT & recently received the machine with the pulsating vest, and we do that as a preventitive, non chemical, measure for any issues that could arise in the future. All in all, I don't think it's a big deal, and my child is definitely not "sickly" by any means.

Last edited by Mod-S4; 03-24-2012 at 09:02 PM.

 
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