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!

Thursday, 26 July 2012

Having CF and preparing to try to start a family

          My posts on here will probably revolve a lot around Cystic Fibrosis and having a baby over the next few years as it's the stage in life we're at, but it holds far more complications than a normal person trying to have a baby.
         Firstly we have to discus it with far more people than you'd like to, I know if I didn't have CF I would discus it with my Marc and that would be it, until we could announce that we were pregnant but I have already had to speak to four people about the fact that we want to start trying today (and we don't even want to start until October) so that was my Physio, dietician, nurse and doctor. On top of that Marc and I have obviously talked about it, we have an appointment booked for him Monday at a genetic's clinic to find out if he carries the CF gene as that will add more complications(I will discus that in more detail after he has had the test, but please all have your fingers crossed for us that he is not a carrier) It's a 1 in 25 chance he could be a carrier, so quite high which makes me really nervous but we will just have to deal with it as it happens! (and if he is a carrier it makes it a 1 in 2 chance that our baby would have CF) Iv'e also discussed it with my Mum as she comes to a lot of my appointments with me, like today and also I will need her every step of the way especially as Marc works a lot and in London (We live in East Sussex) and he has told his brother as he wanted to discus the whole process with someone which is fair enough and they travel to work together so it's when they both get a lot off their chests to eachother as they have SO much time together, that's then led me talking to his girlfriend about it which she has been very supportive and she has a lovely little boy and another on the way any day!!!! exciting!! and I've obviously told my best friend. I haven't told my sisters for the very fact that they are already telling me I need to have a baby and they are so excited at the prospect that if they knew we were trying they would be relentless and if things didn't go to plan and it couldn't happen they would be as devastated as Marc and I! I'd rather just surprise them when it happens! Then I've obviously shared it on the CF Mums site as I know I will need their advice!

          So I told my Nurse first, she said my lung function was okay (58%), we all know it could be better, my best this year has been 71% but I am in desperate need of IV's and have just started some antibiotics to see me through to August when I'm going on IV's. She said on that we had the go ahead to start trying when we are ready. She explained how my lung function would be likely to be affected and that I would need to discus it with the doctor e.t.c.
     Then I told the dietician, she explained if I kept my weight where it is, that's a great start. That I would need to up my calcium to four portions a day(going to find that hard), would need to maybe decrease my vitamin A intake as that can be toxic to baby. And the big one is I need to keep check for Diabetes; as I was borderline on my last test so for the next 3 weeks I need to monitor my levels and keep a record to show Kings! I hate doing it as I have a huge needle phobia but got to get used to it, and it's not just for my health it's for our future. So I start that tonight and will report it back to them on the 14th August when I'm day cased for IV's. They also said to start folic acid a bit nearer the time which is something all ''normal'' people trying to conceive are advised and my sister in law says she has half a tub I can get started on which is great!!
          The physio didn't have much to hand over really except they have different techniques for physio as the pregnancy gets further on and that they would want to see me in hospital once a month at least which is fair enough and I will want to be assessed so I know I'm okay through out anyway. And then she said I did really good on the bleep test and she was really quite impressed (I was hanging after, sweat pouring and could barely breathe but I'm not giver upper!)
           Then I told the Doctor, she was really helpful actually, she said my Lung Function is fine to start trying but that obviously we'd like these Iv's to boost it then keep it up as much as possible as that would be better for me and baby. She said I would need to come off Azithromycin and couldn't have most antibiotics I have and that if it came to it I would possibly have to be de-sensitised to Ceftazadime whilst pregnant which scares the crap out of me but we will just have to cross that bridge when it comes to it! The reaction I had to that was when I was about 8, couldn't breathe, swelled up all over, itched everywhere, went dizzy, lost focus.... not something I'd like to redo but it would be desperate times calling for desperate measures. She also referred me to an ENT doctor as my sinuses are a bit weird and it's just another thing which might be able to be sorted to keep me well:) As sometimes it can be a real problem making me cough more than my actual lungs.

So they were all pretty up for helping me and didn't put too much negativity in. They asked if I would be ok having the baby there and I said it would probably work out better as I know them all and Marc works minutes away from there if he was at work when I needed him!

Friday, 20 July 2012

Happiness, Wedding and Broodiness

         I never know quite how to start my blog entry, one because I have so much to share as I haven't written for so long therefore I don't know which part to start at and two because I am just not a very creative writer!
         I'm guessing I should start with the most important fact, that I am now a MRS and I have been married 5 weeks tomorrow! It's gone so fast in some respects yet seems so long ago at the same time, how is that even possible?! The day before we got married, Marc graduated as a whole time London Fire fighter, this was one of the proudest moments of my life, he'd been trying to get in for the whole four years we've been together and before that then all good luck seemed to come at once and we were on top of the world. So the day before we wed we spent the day with close family in London for his pass out where he got his passed certificate and had to do a demonstration of some of the things he's learnt! He had been doing it part time local to us for the whole time we've been together so was used to the whole fireman thing but this was just so big to us and I really had to hold some happy tears back. Then to top it all off, when I didn't think I could be any more proud he also won an award which he got voted for by the rest of the people on his course and there instructors as most dedicated and worked the hardest (the award is one donated by parents of a young fire fighter who lost his life in one of the first days of his shifts as a fire fighter after passing out- four years ago I think) Marc's Mum is very emotional and she did really well the rest of the day but when it came to this there was no stopping her, happy tears of course. Then we all came home, and it was time for Marc to go back to ours where his parent's were staying too and I went to my Mums, not to see each other again until in the church!!! I was so excited, and surprisingly slept pretty well. My best friend Sian stayed over (maid of honour) and we put Bridesmaids on, but were fast asleep before we'd really watched any! In the morning we went and all got our hair and make up done - me, sian, my sisters (bridesmaids) and my Mum. Everyone kept telling me I was too calm and that everything was too relaxed, but that's because I'd organised everything (obviously I was a little nervous about things all coming together) but I had nothing to worry about, I was getting married to the man I love and know I want to be with the rest of my life! My photographer arrived, took lots of photo's which are beautiful and I got the book back last weekend with all the pictures in and I couldn't ask for better! Then she went to find the grooms men and my Dad arrived followed by our transport - a bright red hot rod with piercing yellow flames (to go with the whole fire theme) and Marc and his men obviously turned up in a vintage fire engine followed by a modern fire engine with a crew all dressed up ready to hold the guard of honour (axes) over our heads as we walked out the church. The ceremony was beautiful and even then neither of us were really nervous, except the most embarrassing thing did happen and my garter fell off and I didn't even notice and it was left at the alter!! haha, luckily the photographer was close behind and picked it up before too many people saw. Then when we were given a candle I by accident blew the one out we were supposed to light together so we had to borrow a lighter off a guest to re light! Then we came out the church, had photo after photo after photo. On arrival to the reception we had Pimms thanks to my Nan and Granddad paying for that! then we did a meet and greet line and everyone went it. We got speeches out the way first, my Dads was lovely, he cried which he thinks is highly embarrassing but I thought it just showed how much I mean to him. He then shared some embarrassing things about a house party I had at home once and what a mess everyone got in to, this just made everyone giggle, then Marc and I did a short speech thanking everyone then Dan (Marc's identical twin brother and best man) did a speech to remember, he was a little tipsy to say the least and did his speech justice, though it was just rinsing Marc the whole time but it was funny! Then the evening we had lots of people and lots of dancing and lots of food, everyone had a great time, and so did we. Marc and his grooms men even did a bit of full Monty style dancing in front of everyone and it was obviously planned as they all had matching illumenous green boxers on! Our first dance was beautiful, throwing the bouquet was a giggle, though the girl who caught it ended up in a massive fight with one of her ex that night and her parents and his parents very nearly had a bust up, luckily I was oblivious to all this at the time. By midnight I began to struggle, my Mum, Sister and there friends were begging the host for more music and I just wanted to go to bed, my dress was giving me a stitch by then and quite frankly I just wanted to get it off! Anyway my family got their wish of more music but everyone went to bed by 1am is! I wont go in to details of after that but our bridal suite was amazing and so was the jacuzzi bath!
            After our wedding we went on a short 3 night break/ honeymoon to just let it all sink in and get away for some alone time. I was gutted before, that we wouldn't be going on our proper honeymoon (Mexico) straight away but I found the New Forest was actually perfect, though it rained the whole time, we had a cosy little hotel room, where they did huge breakfasts included and we had bottles of bubbly from friends that we took with us and we just relaxed! I was a bit poorly, my lungs were struggling from all the business before and on the day and from carrying my dress and I actually couldn't of coped in Mexico as I needed antibiotics too soon after. So now I can look forward to my second honeymoon in Mexico in September knowing I've got IV's first in August so I will be at my best and can go and have a real good time!
           I'm not sure if I've mentioned in my blogs before or not but Marc and I were going to wait a couple of years before we look in to having a baby, he has had his gene test booked for a while which is on Monday 30th July but that was just so we knew. Anyway after getting married we have both been getting more and more broody so then we decided we'd wait a year and half then start trying so then we'd maybe have a baby by a couple of years instead of starting to try then. Well the whole reason for waiting was so we can buy our house first and so I could make a good start to my Open Uni degree, then I found out it's looking pretty slim that we will be able to get a mortgage even in a couple of years unless the economy has a sudden change and also we're renting off Marc's parents and what we pay them they are happy to continue living off anyway and as for my open uni course I can get the first bit completed (working within primary school) within the next year and then the other part is child development etc. so if I have my own child they can be my key study and so can all my nieces and nephews, so now if all goes well with Marc's gene test we have now decided to start trying when we get back from Mexico in October and now we've decided this, it is all I can think about! I'm excited, nervous, worried, what if's....are just going round and round my head! I also found out from one of my sister in laws that another of my sister in laws is going to start trying for her second in October too, this is so exciting but at the same time will make it extra hard to cope with if we have troubles conceiving etc.. Anyway at my next clinic appointment(26th July) I am going to talk to the pharmacist about what  medication I will need to come off and what I can have IV wise when I am pregnant as I am allergic to so many! Marc then has his gene test on 30th then it's just a waiting game for results as I've heard of it taking approx 6-10 weeks, just hope we have the results in time for when we get home from Mexico!
That's all I'm going to write about for now, Summer holidays started yesterday and I have so much planned already so not sure when I'll return with an update but hopefully the sun will start shining as my plans will much better suit some sunshine:D Especially the bootsale where we want to make a bit of money tomorrow and thorpe park Monday:D xx