Jennifer Prinn considers her family’s experience of genetic testing, and whether she would advise other families in similar situations to get tested.
'Is genetic testing a good thing or a bad thing? For our family, I would say it has been a benefit. Let me explain why…
In 2012, I was diagnosed with multiple endocrine neoplasia (MEN) type 1, after breaking my knee in 2010 and then finally undergoing a parathyroidectomy in 2011. When we discovered I had this genetic condition we decided, because the gene is dominant, that we wouldn’t have any more children. How wrong we were! Three months after my parathyroid operation, I fell pregnant (after 12 years of infertility and two previous cycles of IVF!).
'For me, knowing I had a genetic condition that had been passed down was difficult to understand...and here I was, with two children, to whom I could have passed the condition.'
While I was pregnant with my second child (my first had been born via IVF back in 2007), I underwent genetic counselling and testing. The counselling involved discussions with a geneticist, my consultant and a nurse specialist. I was also offered the opportunity to have access to a counsellor.
THE ANXIETY
For me, knowing I had a genetic condition that had been passed down was difficult to understand. My mum passed away when I was young, presumably from a MEN-related condition, and here I was, with two children, to whom I could have passed the condition. The genetics appointment was simple, it was the wait for the results that took time as it took almost 6 months. Despite this, I would advocate genetic testing for anyone who has a strong possibility of MEN.
When my son complained of recurring pins and needles, I initially thought that this was down to growing pains. He was nearly 6 years old and, of course, this is the right age for this to occur. Then the MEN anxiety kicked in. What if it wasn’t growing pains? What if he had high calcium levels, and the pins and needles he was experiencing were a result of hyperparathyroidism? Or worse, had he developed brown tumours from exposure to high calcium for such a long time? After a long battle with my GP, who didn’t really understand why I was concerned (calcium levels aren’t routinely tested), they finally agreed to test my son’s calcium levels. Fortunately, all was fine. But, there was still this nagging doubt in my mind. How did I know that he didn’t have MEN or wasn’t going to suffer the same experiences as me growing up?
THE TESTING
Luckily, I had a consultant at King’s College London who was very supportive and referred me and my husband to the genetics department at Guy’s and St Thomas’ Hospital in London. We were offered a further session of genetic counselling, and were required to talk about our reasons for wanting the children tested at such young ages (they were aged 5 years and 18 months at the time). Generally, testing for MEN occurs around 10 years of age, as symptoms don’t tend to show before then. We explained that that I would feel much better if I knew whether the symptoms they were displaying were ‘normal’ childhood symptoms or MEN symptoms. If the genetics came back negative for MEN, then I could assume that the risk of anything being MEN-related was much reduced.
'The wait was agonising. Every time the phone rang I was expecting the bad news that the results were in.'
The appointment was long and the kids played up because they were bored. Then came the actual blood tests. The baby was easy, she sat on her dad’s lap and didn’t blink an eye. My son, however, being 5 at the time, decided that he didn’t want a strange person sticking a needle in his hand. However, after a few minutes (which felt like hours), he reluctantly agreed. I think that testing at such a young age is valuable, as children don’t remember having the blood test, and, if negative, they don’t even need to know that they underwent a test. If positive, it gives them a good standing for the coming years, which will be full of blood tests and scans.
THE RESULTS
The wait was agonising. Every time the phone rang I was expecting the bad news that the results were in. Two weeks before Christmas in 2012 the results came back – both kids were free from the same MEN gene that I carry. I cried, my husband cried and the girls in my office cried. Many didn’t quite understand the huge relief that these results carried, but they knew how important it was to me.
WAS IT WORTH IT?
So, let’s talk genetic testing. Is it worth it? For parental reassurance, where there is a high risk of transmission, then I would say 100%. You can find out whether your child has a predisposition to a disease and you can prepare yourself for all that comes with the diagnosis. Some of us are lucky, our journey with genetics stops with us, but that doesn’t stop us being grateful for the opportunity we had.'
Jennifer Prinn, RegPharmTech, Retired Pharmacy Technician, MEN1 patient
