About my son Eric @Question about Gene Types

[kandi]

Hi There, I am so glad I found this website because being fairly new as a mom who has a child with Cf there is still a lot of questions I have. I thank everyone who logs on because I have learned alot from reading. I have replied to a few topics
Just to let everyone know my name is Kandi and my son is Eric and we found out about his cf in Nov 02 he was almost 10. He was always sickly growing up. He got his first bad case of pneumonia at 10mths and again at 12 mths. He keep ear and sinus infections. I noticed as a baby he was very salty but they told me it was nothing to worry about. At the age of 4 they tested him locally doing a sweat test to determine if he had cf. That test came back negative. Later after changing several doctors and he started becoming sick again his new doctor sent us to a cf accredited hospital (Augusta Medical College of Georgia ) and they diagonised him with cf. His sweat test was extremly high. The first test they did came out to be 100/95 and then the second test they did was 83/83. They did the genetic test and determined that he has one unknown gene and one classed as F508. It took us from Sept 02 to Feb 03 to get him over the pneumonia that didn't want to seem to let go. He is now on Pulmozyne, Albuterol and Advair. He has only gotten sick one other time since then. The pulmozyne seems to be really helping. His pfts in may were Fev1 of 74% and fvc of 85%. I still don't understand it all but they say that is pretty good although they come down from the #s in Dec ( Fev1 of 81 and Fvc of 92). The doctors say their biggest concern is his weight and growth. He is only in the 38th percentile. He is 4ft 2 and 58 lbs at the age of 12. It funny though because you look at him and would never know. I appreicate being able to vent to people who understand. I have noticed people talking about the gene types. I was wondering if anyone knew how to find out about the different types of genes. I've been told there are lots. I've heard people say because of their gene type their cf is mild. I don't understand the gentics of it all.
Thanks for listening to me everyone and if anyone has any ideas about the gene types could you please help. Thanks and God Bless.<img src="i/expressions/face-icon-small-happy.gif" border="0"><img src="i/expressions/heart.gif" border="0"><img src="i/expressions/musicnote.gif" border="0">
Kandi Moore mother of Eric 12 w/cf, Anthony 10 w/o cf, and Megan 2 w/o cf. (My younger 2 are by my second marriange although they have been raised by the same father from birth whom adopted Eric.)

 

[wuffles]

Basically, someone has two copies of a mutated gene to have CF. There are approximately 900 [someone correct me if this is incorrect] mutations of the gene, which all result in CF, but can cause differing symptoms or problems. Delta F508 is the most common mutation in caucasians and is typically associated with pancreatic insufficiency along with lung issues. Some other mutations are less likely to cause severe respiratory problems, and some are known to cause more GI issues. In saying this, though, there is definitely no hard and fast rule about ANY of these mutations. Some people with Delta F508 have mild symptoms of the disease and some have severe. There are lots of environmental and genetic factors besides this gene that relate to the effect on a person's body so the gene mutations really aren't that much to go on at all.

Hope that helped in some way <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[anonymous]

Hello Kandi,

The following site has some information on the CFTR gene. The site also has a few other resources you could check out for more information. The web, along with your CF clinic should be able to provide you with the information you are looking for.

Here's the site:
<a target=new class=ftalternatingbarlinklarge href="http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cftr.shtml
">http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cftr.shtml
</a>
I also posted a topic relating to the social and psychological development of CF patients. I have some concerns that I'm trying to bring up to as many people involved with CF that I can. We've got excellent resources now to help us stay physically healthy, I'm hoping to eventually gather enough resoureces together to bring more social, emotional and psychological help to the community as well. If you've got a moment, please read the below message that I've pasted to this reply. If you've got any questions please feel free to contact me at the address provided in the message.

Thanks:

Hello,

My intention is to help other people with CF get the resources they need to better cope with the lives they live. Please help me by not only reading this forum, but by also trying to better understand what it is in your life that could be better, or could have been better growing up. Sure, we are all used to living with this illness, but that does not eliminate the possibility of living with it in a more healthy, positive, productive manor.

My name is Mike, I'm a 27 year old living with Cystic Fibrosis in Rhode Island. Throughout my life I've seen that doctors have done great things to keep us as physically healthy as possible. Teams have been gathered for countless experiments in hopes to some day cure our disease. Nutritionists have been brought in and recruited to help us sustain an adequate weight. All of these resources have greatly improved our standard of living over the past 20 years. My question to you and to all the people involved with the care of Cystic Fibrosis is, where is the support and help with the emotional, social and psychological aspects of Cystic Fibrosis? Rhode Island, along with many other states does not have adequate support for families, siblings, friends and patients that are living with Cystic Fibrosis. From what I have gathered, this is partially because from the early 80's we were only expected to live to age 15-20. Nobody predicted that there would be any need for help with Cystic Fibrosis patients developing into adults. Just because we deal with an illness, that may some day be life threatening, does not mean we cannot live productive, happy lives.

As a child I was conditioned to the hospital environment, regularly being admitted for 2-3 week stays. The hospital although was not a place I enjoyed being, became one of the most comfortable social environments for me. Once being released from the hospital I was forced into a world that did not understand what I was going through. Teachers did not have the ability to understand what their Cystic Fibrosis patients were going through, which caused some confusion with certain behavior patters and the constant falling behind with school work. This to me, is not societies responsibility. This is the responsibility of the Cystic Fibrosis organization, the clinics that help us stay alive. To me, these facilities need to be better educated with the social aspect of living with the disease. Nobody is going to be able to help us achieve the best possible lifestyle without first helping each other. We all have a story to tell, we've all become experts of our disease. Being able to reach inside of yourself and determine how this disease has affected your life may not be easy, but if you can start to understand why, I feel it will greatly assist you in becoming a more positive person. Although there are several people in the world that have accomplished great things in life, these people too... at one point of there life probably could have used a helping hand with their emotions.

I am currently living and starting to work on this problem in Rhode Island. I am currently hospitalized for 2-3 weeks and have gathered a great deal of resources in my community that will hopefully assist me with helping others. I plan on donating much of my time with writing to the experts, attending several meetings with physicians and social workers to try and stress what else is needed in the Cystic Fibrosis community. I need your help as well. You all have needs out there, please share them with me. Let me know how your life has been living with this illness and what you think could be done better... for yourself, as well as for parents with newborn children with Cystic Fibrosis. I've had the realization that to be physically healthy, you must also be mentally healthy. Finding a balance within these two areas is what I hope to achieve. I hope to some day lead an organization that will allow me to utilize my knowledge and gather resources to help our community become healthy, both physically and mentally.

Please feel free to respond and or email me any time. I can be reached at "farbeyond1@cox.net." If anyone would like to chat about life, there illness, or to have a better understanding of who I am, please don't hesitate to write.

Thank you for taking time to read this,
Mike

 

[anonymous]

Mike,
Your right CF has come along way and nobody out there gave the CF community a chance, but just wilt away. My daugher was dx about 6 months ago at the age of 18mos. But what I have come to grips with is that you cannot look back but move forward. Within a month of finding out about my daugher I made the promise to her that she would bury me. I made myself known within the community (CF community) as an advocate. We have a pretty good CF clinic and foundation in Knoxville, TN where we live but it could be better. My daily job is a medical sales rep. (God prepares us--my job deals with resp. patients), so I used that as a springboard to get the community involved. My job became a resource! You have to take the first step nobody is going to do it for you. I commend you for your want and desire, but we are a small community that does not get the attention that it needs. We are the emotional support for one another outside our family and friends. We are bigger than CF and will continue to face challenges head on. I wake up every morning grateful for my little girl, and she is what keeps me going in getting as much people in volved as possible. YOU be the catalyst, the leader, and they will follow. Don't look back and press forward, this will not be easy for any of us, all of us are affected by CF from patients, parents, friends and family. You have to get as much support from your own support group and branch out. No matter if you are in California, Scotland, Rhode Island or Knoxville, TN you have the support it is just from the ones you expect it from. Take care buddy and God Bless.

Chuck
father to Avery 23-months w/cf, and Rhett 6-months carrier