The Girls Story
We are truly blessed to have such beautiful children.
My son, Regan, came in November 2003 and was tested for Gorlin’s at the same time I was. He does not carry the gene.
When discussing children with Mark we decided to go and discuss our options with our genetics councillor. She was lovely and gave us all our options.
These were pregenetic diagnosis, this is similar to having IVF. They stimulate egg growth, remove the eggs and artificially inseminate them. When they have fertillised the eggs, they are tested to find the ones that are carrying the genetic fault. Followed by implantation of the none affeceted eggs.
The second option was a CVS (Chorionic-Villus-sampling). This takes place when you are just after 11 weeks pregnant. Unlike an amniosentisis, they take a sample of placenta. A local aneasthetic is applied, and a large nedle is inserted through your tummy using an ultrasound scan for precision. When the sample is taken, it is taken to the genetics centre and tested and within 10 days they can tell you if the baby carries the gene but also what it is, and if there are any other issues you need to be aware of
The third option was a cord blood sample. The pregnancy is seen through, and monitored closely for issues. At the birth the babies cord is clamped and the blood from the cord is taken away for testing and within 14 days you have an answer.
Last but not least the option of not doing anything other than the close monitoring during pregnancy and when the baby turns six months they can swab its mouth and give you an answer then.
We went away, although we were not planning on going down the route after only being together for such a short while, it was something we needed to consider…..little did we know that a week later, we would discover that I was indeed pregnant.
Option one was ruled out and after a lot of discussion we decided that we would go with the CVS. It was important for me too know, if we could know, we wanted to know.
So the day came….Mark desperatly wanted to come but I didnt want him to risk his job, he had just started after being unemployed for a short period of time. So I took my friend with me, she drove me there and sat and waited while I went in. Nerves were at a high but I couldnt fault the staff at the RVI one little bit.
Soon it was my turn and I went in, the needles were big and the whole process was uncomfortable and painful. I knew it was for the best, I think it hurt more because I knew the possible outcomes if it went wrong. After half an hour and a long car ride home I rested and waited for my results.
It was a long wait, but finally the phone call came a week later whilst I was out and about, our genetics lady confirmed that the pregnancy had the rogue gene. She told me everything else was perfect and asked if I would like to know the sex. I confirmed that I would, and was told it was female.
Then came the decision making. Lots of heated discussions followed ….Mark had no doubts but I was more cautious….for me it all came down to the first real scan. The 12 week one, if all was well at that one then I would have no doubts.
We went for the scan and they confirmed all was well and in fact she was perfect, no issues , no worries and growth was perfect…..Pregnancy here I came.
My most memorable moment from early pregnancy was in the local hospital. I attended an appointment to have blood taken for one of the many tests I had to have. It wasnt my usual midwife but an older lady. She looked at my notes and asked why I would have the CVS. After explaining why, she simply turned round and questioned our decision to continue. Needless to say I logged an official complaint. I later found out that she had been moved out of the early pregnancy ward.
Over the months, we were closely monitored and looked after extremly well. We had scans every four weeks, midwife appointments every other and saw an the consultant every four weeks too. We had a 4d scan and that confirmed that she had no problems. Before we knew it the 36 week appointment was upon us.
The doctor we had was lovely and had promised at this appointment we discuss delivery options. After having an emergency section with Regan it was apparent that I wasnt built to have babies in the normal way but I was keen to have a go if at all possible.
The doctor did his thing and told us that in order for me to do it naturally she would need to come at the right time, be the right size, at the correct angle and in the right position. So although it wasn’t impossible, it wasn’t likely. We decided to have a planned section booked in for 39 +1 weeks (it would have been 39 weeks but it was Easter weekend). If I went in to labour before I would give it a go, if not she was coming on the 6th of April.
Despite a couple of false starts, she made no appearance and what has to be the most relaxed Caesarian ever took place. It took an hour and a half to numb me enough, when I was numb enough I still had complete control of my legs and there was a mad dash to get started. We were sat there waiting and all of a sudden all the lights in the theatre went out…….everyone was looking around to see what had happened…everyone that is except for the aneathatist who was stood against the wall, one foot up, reading his phone…turns out he had leaned on all of the switches….phew , normallity restored.
With that small drama resolved Elizabeth was born weighing in at 7lb and 10 ounces, happy, healthy and feeding well.
Guess who was on the ward when I had her…….(thats right the wicked midwife). She remembered me and apologised for speaking out of turn and made every effort to help me anyway she could.
Over the months to come we saw a Paediatrician. He had no idea what Gorlins was, and to be honest had no interest. We needed to be seeing more than just him and without pushing him we would have got knowhere. She had a cardiac scan because she had a murmur, not because of the Gorlins risks. Other than that I was left to monitor her and ask the genetics team for other referals. We saw Simon Bailey up at Newcastle in relation to Neurological risks and also got her seen by several other professionals. For all the verdict was perfection, the peace of mind was amazing to have. We were also lucky to have an amazing GP practice and without there help we would have been lost.
In November 2012 we moved. Mark and I had got married, his eldest son had moved in with us and my three bed room house just wasnt big enough. So we found a 4 bedroom house and moved in. It wasn’t an easy thing to do with strained circumstances. My Dad had just been diagnosed with polyneuropathy, but we had his blessing and made the move, to be closer to my Mum.
Sadly on Boxing Day my Dad got up and waved goodbye to the world…..I was broken.
We had been trying for 18 months to have another baby. I had laid my Dad to rest, a week later I went in for surgery and two weeks later I discovered I was pregnant. Sadly it wasnt meant to be, at only a few weeks I lost the pregnancy, after being numb still from the Dad situation this just added to the emotional rollercoaster I was going through.
I didn’t have chance to wallow in self pity however as I instantly fell again. Discovering the following month that I was pregnant.
After being through the CVS with my last pregnancy I didn’t want to go through that again. It was beneficial but it didn’t have any impact on the decision we made to follow through with the pregnancy, so we wouldn’t have benefited from risking this long awaited baby. We decided to take the close monitoring and have the blood from the cord taken away at birth.
Our first scan revelaed that our baby was due on the 26th of December 2013. (Exactly a year to the day since I lost my Dad). It certainly seemed that someone didnt want me to remember the day as sad. X
Again we were closely monitored and the care was amazing. No judgemental midwives. In fact they were all amazing.
Delivery day came, my spinal worked first time, we had a theatre full of excited nurses. (I have an intolerance to latex and we were placed in general theatres instead of Maternity theatres, so the nurses were excited to see something out of the norm and at the prospect of baby loves).
Penelope made her appearance, weighing in at 8lbs and 5 ounces. Mark rugby tackled the doctor to have hold and then the nurses rugby tackled him as there was no way a cute baby was leaving that theatre without them having a cuddle.
The doctors took the cord blood and I was transferred to recovery.
In recovery we were visited by the Doctort that performed the section, along with a paediatrcian and also the haemotology doctor who performed the chord blood tests. Massive compliments to the team at University Hospital of North Durham. They were amazing.
In the coming weeks we found out that Penny also had the rogue gene, but we expected it. She had the visual traits that are expected and I always seem to convince myself of the worst, then I can’t be disappointed if this is the case.
We were placed with a Paediatrician, and after the last one I was dreading it. How wrong I was to do so though. She was amazing, she knew what it was, how it needed to be approached, what tests she needed, and most importantly she is amazing. Within weeks we were having all sorts of tests, the doctor was working closely with all the experts and had not only given me her direct dial number but had asked to take on Libby’s care too.
From then on in we have seen her every 4 months and when we have had a problem we have been seen within a week of it being raised.
That brings us up to the beginning of this year, we hoped they would not start with anything until there teenage years at least but Libby had a dubious growth that resulted in a referral to my plastic surgeon. He inspected it and decided to remove it.
It was a BCC….(to be continued)
Their care is amazing and I would recommened their doctors and care team to anybody. The local hospitals get a lot of stick but for mine, The University Hospital of North Durham, the RVI, the Institute for Human Genetics and the Freeman are simply the best there is.Social Media