Tuesday, 31 July 2012

Genetic Counselling

          So I sort of explained in my last post, that my Blog is going to be extremely orientated on Marc's and mine journey into the world of living with Cystic Fibrosis and trying to start a family; I will discus the complications, decisions and emotions we may/will have to face and explain the steps we have to take to make sure we are giving our future baby the best possible start in life and future for us as a family.

          Marc had his genetics appointment yesterday, yay, it's felt like a long time coming and I just want the results as they are something that are completely out of our hands as well it's either in his genes from birth or it's not. They have told us results should be about 4 weeks which is quicker than most have told me. I wont get my hopes up but by them saying that means in 4 weeks I can get Marc to phone them and nag to try and hurry the process up, then we should have them definitely for when we get home from Mexico in 8 weeks time! Fingers crossed for a good result. The appointment went pretty much as expected; bit of discussion over the chances of being a carrier 1 in 23-25, then the chances of us then having a baby with Cystic Fibrosis if he is a carrier 1 in 2 (50%). It is usually if their are two carriers a 1 in 4 chance of the baby having Cystic Fibrosis but because I carry the 2 genes making me have CF it makes the chance greater. She asked if we knew what we wanted to do if the results meant Marc was a carrier and we explained we would want to go through IVF which she said she would refer us to the IVF centre if we still wanted when we get the results. She then explained that it only tests for the 28 most common genes and that is 90% of the Caucasian  population with Cystic fibrosis but their is still a very slight chance, what would we like to do about that? We thought about it a bit and discussed it after and if he passes the common test and shows up as not being a carrier we will try for a baby naturally. She also asked if I was aware that some Cystic Fibrosis women do have fertility problems and had we thought about that, Marc and I said we were aware, but planned on not worrying about it until we have been trying for a while unsuccessfully. It does worry me, but worrying about it before we have even started will make us worry more which can affect being able to conceive even more. I have heard cervical mucus can also be a problem iand some ladies have advised me what can make that thinner and I have added that to my shopping list to get us off to the best possible start. I also plan on starting a healthy diet, cutting out so much caffeine and starting folic acid and anything else anyone can suggest!

          My last post explained how my clinic appointment at my Hospital the other day went, I thought i'd quickly share the key points again... They pretty much gave us the go ahead, just want to boost my lung function to the best it can be, make sure we keep an eye on my sugar levels (I am borderline diabetes) and will arrange for us to discus with the pharmacist all the medication I am currently on that I will have to stop taking. For people that don't know Cystic Fibrosis has a major impact on our lung function, this can be from amounts of mucus on our lungs during an infection or from scarring on the lungs, the worry of having a low lung function during pregnancy is that you loose more lung function during in pregnancy anyway because the baby resting on certain places and if your lung function is already low this could take it 'dangerously' low, making a negative impact on your health and your future babies health. I believe most CF teams hope for their patients to have a lung function of 50-60% and above before starting trying. My lung function is 58% currently but I have just started antibiotics due to chesty cough and am well over due some IV's. The best lung function I have had this year is 71% so that is my aim after this course of antibiotics and IV's and I hope I can maintain it. I start IV's on the 14th August for a 2 week course at home, where I plan on continuing to be compliant with my medication but with even better physio's and even more exercise. We are planning on starting to try for a baby the day we get back from our honeymoon in October so this gives us this time to get my lung function up but also means I need to make sure I can keep well until then after the IV's so we are at our best health ready. I have been monitoring my sugar levels this week and they are a bit high after meals so I am getting slightly worried, I am booked to have another glucose test in October after my honeymoon, this will happen whether I'm pregnant or not as they want to try and make sure before I get pregnant, but even if I am pregnant they like to keep a very close eye during pregnancy and I'm pretty sure they said they will link me up with the diabetic team anyway. They didn't say much about what drugs I can have during preganancy- antibiotic and IV wise, I don't think they really know as they did mention I may have to be de-sensitised but they would rather I discus it with the pharmacist, I should imagine this will happen when I am day cased for my IV's in August. I'm really hoping my lung function will have increased from these antibiotics before I start my IV's so then the IV's give me an EXTRA large boost but I'm not sure it really works like that, I'm no doctor!

Will be back soon with updates on my Lung function (hopefully good) and hopefully with some good genetics results!


  1. Hello there! I have CF as well. I recently stumbled upon your blog and thought I would wish you much success in your future pregnancy journey. My wife and I, are expecting our daughter in October. If you would like to read more about our pregnancy journey I invite you to check out my blog.

  2. Hi John, it's lovely to know someone is actually reading my blogs. I would love to come and follow your story. Thank you