Archive | July, 2012

Old Wonky Legs…

16 Jul

I found these at the weekend, and couldn’t help but think ‘wow!’ at the difference between my legs then and now. ¬†Thought I’d post these on here as ‘before’ Taylor Spatial Frame photos (they were taken after the break-and-set type operations), and I will at some point post a photo of my legs more recently so the wonders of what those operations have achieved can be seen… ūüôā





My Nuisance of a Knee…. and Hello New Hip?!

16 Jul

Last Wednesday, I headed down to London again to find out what could be done to my knee. ¬†Since the last taylor spatial frame was removed, I have been unable to bend my knee past 90 degrees. ¬†I was told to wait three months, to see if the joint loosened up (as the bones were locking up against each other in the joint)…. and that I did. I tried to move it as much as possible to try and get some more movement in it. ¬†However, when I spoke to my surgeon last week, he told me that there was only one possible option. ¬†I can’t remember exactly the terminology and phrasing was that he used, but it sounded to me that he could cut the muscle around my knee to see if that would help. But, he ‘wouldn’t recommend it’, especially as it wouldn’t necessarily do any good, and could potentially cause further complications. ¬†So, that’s that – my knee will never again bend as much as it used to. ¬†Not a massive problem, but it’s a bit irritating, as it was fine before the last op…. an op which didn’t even involve my knee! Bizarre!!

So I was discharged from the hospital (Quite sad to say goodbye to my surgeon actually!)…. but, not before he had referred me to a hip replacement surgeon (so I won’t be free from the hospital forever!).

I have known for a while that I will be needing hip replacements at some point in my life, and recently it has become evident that one will be needed in the near future (as opposed to when I am 30 which is what I was expecting). ¬†As soon as I was told a few months ago that I needed a replacement joint ‘pretty soon’, the research began. ¬†I have looked up how hip replacements are done, what options there are as far as how the joints are made, which surgeons may be best to go to, what the recovery time is, what limitations there are after surgery, what to expect in terms of pain, what the risks are…. you get the idea, I did a lot of reading. ¬†I was considering getting the opinions of both a surgeon on the NHS who operates at the hospital I have previously been treated in and a private surgeon who has performed hip replacements on young adults… until I was told last week that Mr Nejad (the NHS surgeon) has replaced many hips of those with Pseudoachondroplasia before. Well, that was that decision made then – he will know what he’s dealing with and what is best to do with my situation… that’s reassuring. So, I have been referred to him and will have an appointment with him in the next few months… then, I will know more about what needs to be done, and when. ¬†It will be good to know more about it, and possibly get myself booked in if a ¬†replacement is needed ASAP as I’ve heard the replacements can give patients a totally different way of life – hey! Maybe I’ll be able to walk about without crutches?! That’d be good. ūüôā



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 ( ¬†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. ūüôā¬†

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):¬†

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)


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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