Whats Genetics Got To Do With It?!
16th May 2012; having had time to accept that the only way forward for us was fertility treatment, we anxiously awaited our first appointment at the Assisted Conception Unit in Dundee which had been arranged for 25th May 2012.
In the meantime, we attended an appointment at the Clinical Genetics Clinic in Glasgow for a better understanding of the condition causing our fertility issues. We met with a lovely lady who explained the result of Adam's genetic testing and subsequent Robertsonian Translocation diagnosis.
Now, I don't claim to be an expert or to really know what I'm talking about but in short layman's terms this is what she told us:
Most people have 46 chromosomes, Adam has 45. Of these 45, chromosomes 13 and 14 are affected. This is the most common form of translocation however for us it meant that we had an increased risk of miscarriage (30% instead of 25%) and also an increased risk of Down's Syndrome and Patau's Syndrome (1% and 0.5% more than anyone else).
The Consultant explained to us that fertility treatment for us would come in the form of ICSI (Intracytoplasmic Sperm Injection). This is when the sperm is injected directly into the egg and then left to fertilise or not. This is the common process used when dealing with male factor infertility due to immobile sperm or low sperm count.
This all sounded very positive and sounded so simple! Little did we know!
We were also a candidate for PGD (Preimplantation Genetic Diagnostic) testing. She explained to us that once the embryo reaches the 8 cell stage, one single cell is removed and tested for genetic conditions. If these are normal, the embryo can then be transferred. Of course this in itself has risks to the embryo including increased risk of miscarriage.
So science lesson over, the Doctor also informed us that there was an 18-24 month waiting list for this! I wanted to be pregnant now not wait 2 years!!
Armed with more information than I care to remember, we made the decision to go ahead with our fertility treatment as we (naively maybe) thought that the risks were very low and obviously would not affect us!!
We were referred to the Assisted Conception Unit in Glasgow and over the next few months attended for blood tests and sperm samples (the latter of which has caused no end of hilarity for me throughout our journey but I will get to that later!) in preparation of future treatment.
For reasons which have since escaped my mind, we were offered an appointment at the PGD Clinic in November 2012 but in the meantime, an appointment arrived for 25th May at Dundee Assisted Conception Unit (following our initial referral) and so off we went to explore the options they had to offer!
We decided to make a night of it and booked into a hotel close to Ninewells Hospital so that there was no rush hour traffic to contend with and the wee upgrade they gave us went some way to making up for the stinking cold I had!
We got up bright and early and set off on the 5 minute drive to the hospital exactly1 hour early!! We then spent the next 45 minutes in the hospital café (somewhere we would frequent rather a lot over the next 5 years) excitedly watching the clock tick away till our appointment.
The corridor leading to the ACU is ridiculously long (a walk which we would come to dread and welcome in equal measures). It is also the corridor leading to the maternity ward and out-patient clinics! Walking the corridor with pregnant women meant I took a keen interest in the artwork along the way, and given my serious fear of fish and birds, found it amusing that the paintings contained nothing but fish and birds!
We gave our details at the reception and handed over the mountain of paperwork we had been asked to complete as well as our passport photos for identification and then went to take a seat in the waiting room. At that moment we were greeted by the largest wooden sculpture of an egg and sperm you could ever imagine and it was right then that I knew this is where we would have our treatment and this was the place that would quickly become my safe place and the people would quickly become our extended family.
https://en.wikipedia.org/wiki/Patau_syndrome
https://en.wikipedia.org/wiki/Robertsonian_translocation
In the meantime, we attended an appointment at the Clinical Genetics Clinic in Glasgow for a better understanding of the condition causing our fertility issues. We met with a lovely lady who explained the result of Adam's genetic testing and subsequent Robertsonian Translocation diagnosis.
Now, I don't claim to be an expert or to really know what I'm talking about but in short layman's terms this is what she told us:
Most people have 46 chromosomes, Adam has 45. Of these 45, chromosomes 13 and 14 are affected. This is the most common form of translocation however for us it meant that we had an increased risk of miscarriage (30% instead of 25%) and also an increased risk of Down's Syndrome and Patau's Syndrome (1% and 0.5% more than anyone else).
The Consultant explained to us that fertility treatment for us would come in the form of ICSI (Intracytoplasmic Sperm Injection). This is when the sperm is injected directly into the egg and then left to fertilise or not. This is the common process used when dealing with male factor infertility due to immobile sperm or low sperm count.
This all sounded very positive and sounded so simple! Little did we know!
We were also a candidate for PGD (Preimplantation Genetic Diagnostic) testing. She explained to us that once the embryo reaches the 8 cell stage, one single cell is removed and tested for genetic conditions. If these are normal, the embryo can then be transferred. Of course this in itself has risks to the embryo including increased risk of miscarriage.
So science lesson over, the Doctor also informed us that there was an 18-24 month waiting list for this! I wanted to be pregnant now not wait 2 years!!
Armed with more information than I care to remember, we made the decision to go ahead with our fertility treatment as we (naively maybe) thought that the risks were very low and obviously would not affect us!!
We were referred to the Assisted Conception Unit in Glasgow and over the next few months attended for blood tests and sperm samples (the latter of which has caused no end of hilarity for me throughout our journey but I will get to that later!) in preparation of future treatment.
For reasons which have since escaped my mind, we were offered an appointment at the PGD Clinic in November 2012 but in the meantime, an appointment arrived for 25th May at Dundee Assisted Conception Unit (following our initial referral) and so off we went to explore the options they had to offer!
We decided to make a night of it and booked into a hotel close to Ninewells Hospital so that there was no rush hour traffic to contend with and the wee upgrade they gave us went some way to making up for the stinking cold I had!
We got up bright and early and set off on the 5 minute drive to the hospital exactly1 hour early!! We then spent the next 45 minutes in the hospital café (somewhere we would frequent rather a lot over the next 5 years) excitedly watching the clock tick away till our appointment.
The corridor leading to the ACU is ridiculously long (a walk which we would come to dread and welcome in equal measures). It is also the corridor leading to the maternity ward and out-patient clinics! Walking the corridor with pregnant women meant I took a keen interest in the artwork along the way, and given my serious fear of fish and birds, found it amusing that the paintings contained nothing but fish and birds!
We gave our details at the reception and handed over the mountain of paperwork we had been asked to complete as well as our passport photos for identification and then went to take a seat in the waiting room. At that moment we were greeted by the largest wooden sculpture of an egg and sperm you could ever imagine and it was right then that I knew this is where we would have our treatment and this was the place that would quickly become my safe place and the people would quickly become our extended family.
https://en.wikipedia.org/wiki/Patau_syndrome
https://en.wikipedia.org/wiki/Robertsonian_translocation
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