Hi, My grand-daughter was diagnosed at 6 weeks old. I can well remember how scary the idea was then. She is 7 months old now. From the beginning it was obvious that something was not right. She was born at 6lb 7oz and dropped to 5lb 14oz and just did not gain weight at all for the full six weeks. Her stools shone with the fat that she couldn't absorb. They were smelly and greenish in colour. Apparently stools are supposed to look like mustard. They most certainly didn't. She did have frequent hiccups. She tasted salty. She slept most of the time. She was very snuffly having lots of mucus in her nostrils and soon developed a cough. She had two sweat tests but was too small to produce enough for a conclusive result. Bloods were analysed to confirm diagnosis. She has the double DF508.
If your son has only the one defective DF508 gene then being a carrier will not give him any of the health problems that cfers have. If it is found that he has two defective genes(one of which may not be DF508) and he has CF then he will need lots of medication. However, as soon as Leah began her medication there was an immediate difference in her. She began to gain weight and was much more alert. She is now a bright, chubby, active baby who is trying to crawl and never stops smiling. My advice would be to take each day as it comes and give support to each other. The waiting was definitely extremely hard to cope with and if he is diagnosed there will be a lot to learn but once we were actively working to make Leah healthier we became much stronger. Since she was diagnosed there have been several developments in both treatment and research. We live in hope.
I hope that things go well for you.
Hello Jay and welcome to HW! Lot of good information posted above. CF can be difficult to diagnose at times and the waiting can be unbearable, I feel for you and your wife.
Make sure the sweat test is done at an accredited center (as stated above). If you than have to have more DNA, Ambry has an excellent extended panel/promotor region test that they can perform. It has been known that there are people who have CF and their mutations have not been found. I believe the specialists look at the "whole picture" in making a diagnosis.
Your son will be followed closely and it sounds like he is in very good hands!
Thank you all for your well wishes and words of encouragement. Luckily the test results came to show that my son is only a Carrier of this gene, and does not have a second mutation.
It was the greatest news that I have ever heard in my life.
I feel for those of you who have to deal with this horrible illness everyday. I am ashamed of myself for being one of those people who would have never stopped to think about what it must be like to have a serious illness, until I had a scare close to home.
I plan on devoting allot of my time and energy from this point forward, towards CB awareness and fund raising. They are getting closer to a cure everyday. I hope that somehow I can help play a small part in finding it one day.
God bless you all.
Hello again Jay. What was the results of your son's sweat tests? Good to hear that it is not likely that your son has CF and thanks for devoting your time to spreading awareness to the public of this disease.