A Consideration for the Future…

3 Jul

I am not, by any means, the kind of girl who wants lots of children as soon as possible.  In fact, at the moment, I’m not so sure I will ever have children of my own.  Yes, I am only 21 years old, and am yet to settle into a steady relationship with a guy, but I have always felt that adoption would be a consideration for me when I get to the point in my life where maternal instincts kick in (assuming they will!).  There are so many children that are in need of a loving family and home, so I have always said I would like to consider providing this for a child… and it would also be a way of knowing the child I would bring up wouldn’t have inherited the mutation I have in my genes, and therefore have Pseudoachondroplasia too.  However, as I have recently been talking to many people who have Pseudoachondroplasia, some of which have children of their own who have the condition too, it has made me consider whether or not I would want to take the risk of having my own child, as there is a 50% chance of them inheriting the mutation in the COMP gene.  I will state now, before I offend anyone, that if I were to have a child with the condition, I would not love it any less.  I would not think differently of them.  I just began to wonder whether there was any way to avoid having a child with Psach and having to watch them suffer the effects of it.

I asked on a ‘Facebook group’ whether or not any parents on there had experienced any prenatal tests to determine whether their child had Pseudoachondroplasia, yet did not get quite the response I had hoped for.  It seemed I had offended some members as they thought I should be accepting of having a child with the condition, and I was told that no, they had not had any testing, they would wait until their child was old enough to be diagnosed (at around 2 or 3 years of age).  I felt bad.  I felt that perhaps I shouldn’t have asked, as I really hadn’t meant to cause offence.  Yet, I still wanted to know what was available in terms of avoiding my baby (hypothetically! I’m not pregnant!!) having the same disorder that I do.  I knew that scans would provide no answers as there are no physical signs until a child is around 2 years old, but I wondered if there was opportunity for genetic testing.  There must be something, surely?!

Having had the response from questioning the matter online that I did, I decided to carry out my own online research – just the standard Googling of such matters really!  However, I received a message from one woman on Facebook telling me about a method she had been told about, which might answer my question she had seen on the group.  Pre-implantation genetic diagnosis, or PGD.  PGD refers to procedures that are performed on embryos prior to implantation, sometimes even on oocytes prior to fertilization. PGD is considered another way to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective pregnancy termination as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation (http://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis).  Whilst I would never choose to terminate a pregnancy myself as I am very much against abortion, this procedure still very much grabbed my attention – and I was so thankful that the woman who messaged me had passed on her knowledge!  Pseudoachondroplasia has only recently been added to the list of genetic disorders that can be tested for using PGD, and for me, this is ever so exciting! I have already said I have no plans to have children in the near future, but this means that if I do ever choose to do so, I should be able to avoid passing on the mutation in the gene to my children. 🙂 

What is even better news, is that the risks that were thought to be potentially linked to PGD have been researched… and it would seem there are no risks to the baby using PGD.  It explains this in the article I read this morning (which also prompted me to write this post): http://www.bbc.co.uk/news/health-18676894

So, who knows… maybe with this knowledge, my feelings about having my own children in the future will change!

(Note for Mum/Dad when you see this – don’t worry, I’m not talking about having one yet! haha)

x

p.s. PLEASE don’t take any offence at what I’ve written in this post, I really don’t want to upset anyone, but am just sharing my own personal opinion on the topic!

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4 Responses to “A Consideration for the Future…”

  1. Monique February 7, 2013 at 7:01 am #

    Hi Ruby,

    I really appreciate you sharing your thoughts on this…I know you and I have discussed this in the FB group before. It’s just amazing to see how opposite we are on the topic. I have to remember as well that your experiences with Pseudo are not the same as mine. I have thought about what kind of children I’d like. I’d love one no matter AP or LP. I have thought it would be cool to have a blond little Pseudo girl like me. I’m not saying it because I have some horrible desire to wish anything bad upon a child, I guess I just have never saw my Pseudo as being something bad. For me, I only had two Pseudo related surgeries from birth to age 18, so most of my childhood was great with the surgeries just being a blip in my memory. Being an adult with my new hips, I feel like I could do summersaults, which, I definitely won’t lol, but I feel amazing. I honestly don’t know what the future will hold for me, as I’m only 33 and hopefully have a lot of “future” to go lol. I can say though for me, looking back, I’ve had a good life so far, I can’t really complain. It’s why I don’t worry if my future child would have Pseudo or not, they’d get through it just like I did. My mom was Pseudo as well, so I think that also adds to why I feel the way I do.

    • rubysoniaallen February 7, 2013 at 11:10 am #

      Hi Monique,

      I’m pleased you can see the possible reason for the difference between our points of view! 🙂 You’re right though, it is interesting to see that opinions can vary so much on the same topic!

      Hope you’re well! 🙂

      x

      • Monique February 8, 2013 at 4:46 am #

        Absolutely! I also admit, that is also a fault of mine, to not fully understand that my experience is by no means everyone elses. It’s amazing to see the spectrum of Pseudoness in not only height and physical appearance but also experiences!
        I hope you’re feeling well! Please keep your readers updated on your hips! I really hope you’ll have a wonderful outcome as well! No jumping off of roofs though after it happens (it was suggested to me by several of my friends lol). 🙂

  2. Christel June 19, 2013 at 12:19 pm #

    I too battled the decision whether I was ever going to have children knowing I had a 50% chance of passing it on. Although I would love the child no matter what it’s condition, operations and pain have always been apart of my life – and I hate the thought of passing it on and watching a child battle the condition. Well as fate should have it 6 months ago I had a ‘surprise’. Throughout the pregnancy I have been asked about if I would like to test for the condition and as I would never terminate I declined. I am however eager to test the baby when it’s born.. this is only so I can be better equipped to ensure she has the best care whilst also being aware of discomforts she might feel as a baby.

    As for the pregnancy on myself, so far so good – I’m at my 27th week and my body has taken it better than I thought (apparently hormones help with the pain!) I will be having a C-Section and suspect she may have to come a little earlier as she’s a very healthy normal size! Although more often than not I think that living with Pseudo is a blessing in disguise (I have lived life my life a lot fuller than anyone I know) I still hope everyday that my little one will be blessed to be healthy & live a life without restrictions.

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