Cure Achondroplasia….

I thought I would post as the clinical trials for this potential “cure” for Achondroplasia starts in January 2013, I personally know of someone whose little girl has been selected to be a trial candidate it involves a series of daily injections with strict medical supervision.

Don’t get me wrong I applauded any sort of medical breakthrough, and if this is successful in promoting  growth in Achondroplasia then I guess in years to come there would be very few little people around.

At the moment my feeling is that I have made peace with Achondroplasia, Leah was formed this way from the day she was conceived, she is healthy, happy and not facing any life threatening health risks.I dont know if I will ever use her for drug testing I dont think i would use myself for any sort of drug testing as a feel like there is no guarantee on what side effects could surface.

I would love your feeling on this, I’m just putting it out there in case you haven’t heard…

Here are some links to read up on…..

28 thoughts on “Cure Achondroplasia….

  1. Just a thought, but if they “cure” achondroplasia, do they in effect further refine the human being and thus make it that bit more vulnerable to annihilation? At present Achondroplasia represents a variation on the human form thus making it (humanity) less vulnerable to genetic attack?

    So the question is; doesn’t humanity need Achondroplasia for its own survival?

  2. I am Ravi. My 2 month old son has been recently diagnosed with Achondroplasia. I came across your blog and find it inspirational. I have been trying to read whatever i could find on bmn 111 online. If it proves effective that would be great news for children with achondroplasia. I contacted a recruiter for the clinical trials and she replied that the Biomarin will be starting the drug trials in the summer of 2013 and will be doing a growth study till then.
    Wonder if that has changed and they are doing drug trials from January itself.

  3. Hi Ravi, im not to sure but I know of a little girl who’s mum has contacted me to say that she starts the treatment trial in January…… im just going on her word regarding when it starts.

  4. I found that really interesting reading and wasn’t as anti as I thought I’d be. It made sense and to be honest the volunteers of human trails are so brave and fantastic people who understand the importance of the work. Personally I feel that science should try to work at understanding any genetic mutation and do not see it as a personal attack against my daughter who has achondroplasia. In my eyes it’s all positive work. Thank you for sharing the info.

  5. Charmaine thank you for this important information. It is groundbreaking yes,but I also share your feelings about not having Josh undergo theses drug trials. For me I accept that he was born and formed this way and wouldn’t want to change him in any way. May I share this link and information on our Little People of South Africa Facebook group?

    • I understand your feeling Rachelle but if this works it could open up a whole new life for children with Achondroplasia, so I’m just not keen on being a first time drug trial candidate but I’m open to any medical advance made to help complications that stem from Achondroplasia, so it does not take the Achondroplasia gene away but it can improve growth and help associated complications.

  6. I think we need to think of the children here and the complications they face in their lives. I personally know of an adult with achondroplasia who told that whilst being at work one day her manager had said to a staff member in response to a job that needed doing “get the dwarf to do it”. I personally would never want my child to be treated like that, nor to be starred at or joked about. I personally find the word revolting and it should be abolished, but how do we educate people when the short stature association even refer to themselves as that silly, inhumane nickname? So what life do our children face, and how can a treatment ever be given to help these innocent children who did not ask to be born different or face difficulties in life that we do not have to face, if no one goes forward and allows the drug to be tested. We should not easily criticise others, without thinking of these children and the lives they have ahead of them. It would be completely insensitive to do such a thing in my opinion and ask what woud your child want, not what you want.

    • I think firstly, I am assuming if the person was old enough to work they would have been old enough to voice their opinion, and should have gone straight to someone higher in authority and complained. That was harrassment and discrimination. If they had not got any help in that way, they should have sought legal advice. As a person with achondroplasia, yes I have received ridicule and comments about my short stature, but it hasnt made me want to change. So many things have happened in my life for the better that would NOT have happened had I been average height. No its not easy all the time, but are average height parents considering this new drug for themselves or for their child? I was at the very first meeting that took place when leg lengthening came over to England, which was over 25 years ago. The parents were going mad for it for their children, which resulted in a lot of pain for the child. The trials are in the very early stages yet. Let us wait and see how they go, before considering if we need to make decisions. Meanwhile enjoy your children of short stature. I think you will all agree, they are all very special. Could these drug trials change their personality, their uniqueness and characters?

      • Well said Val I love my son did before he was born hence before I knew of his Achondraplasia. I think my life is richer for him. My other Two kids also have specialised needs and again my life is richer for it busier yes but RICHER.

    • Maci, you have puzzled. First I can’t work out if you yourself are a dwarf or midget. Second, since you don’t know me would you kindly refrain from using my comments as a tool to back up your own inaccurate arguments?
      Not sure what exactly it is you have against dwarf and midget? I’m a dwarf. A thoroughbred 100% Achon dwarf. I’m actually the short Short of my family. I’m also a dwarf who’s favourite confection is “Midget Gems”. My understanding of a midget is a perfectly proportioned dwarf; a condition I see as something to admire.
      We have a garden full of the dwarf varieties of plants.
      What I think I’m trying to say is that I have absolutely nothing against the labels or my own physical condition (other than being geriatric now:-). )
      So please, if you are not a dwarf, kindly refrain from trying to walk in our shoes. For starters your feet (and I suspect your mouth) are far to big.

  7. Hi Macy… I agree I hate the thought of my child facing difficult times as far as teasing etc , and I would hope they would use the name instead of referring to her by height I don’t think any parent wants their child to face difficulties. Unfortunately I cant predict the life my child will have all I can do now is build her confidence and teach her to be proud of who she is, if I’m going to be negative and worried about her future how can I ever make her believe that she will succeed no matter what the odds may be. I am happy for medical advance in treatment I just felt I was not comfortable enough to use her for a drug trial in all honestly I am afraid of possible side effects so I’m not criticising anyone I just feel for me personally its a no….. and Leah is to young to decide right now I most certainly would take Leah’s opinion into consideration in future

  8. At 69 I’ve always banged the drum that my achondroplasia has been my golden ticket through life. However if I was a new embryo and had the option of this FGFR3 neutraliser or whatever they are going to do, then I would be first in the queue and grab it with both hands!
    But that’s still in the future. For those of us already here, let’s just get on with it and be as successful as our peers.

  9. @Macy So just so I understand….you want to change the person because of the behavior of the oppressor (person discriminating against them)? How is this any different than wanting to change someone’s skin color because other people might be racist?

    If you don’t like the word ‘dwarf’-don’t use it. Many people (including myself-a lp) are fine with that or little person. Dislike for a term is hardly a reason to take away someone’s culture.

  10. No cure. My daughter has achondroplasia…what are we doing? What are we saying? Why are we playing God…it’s not a disease… STOP. It’s so wrong.

  11. In addition, I read the alleged offense to lhe word midget, however note, the word dwarf as part of dwarfism is used. If people are offended by the word midget, then they ought to be offended by the word, or any link, to the word dwarf and it should be removed from your webpage. People that have children or have achondroplasia know what the medical term is, the word dwarf (which I refuse to ever use in my vocabulary, or to be used around anyone I know that has short stature) know what the medical term is, so if we are trying to educate people etc, in an endeavour to protect these children and adults from any emotional harm, should make a stand and not use that word in any form and it should be removed from your webpage. In medical terms it has been removed, as it should be by all others associated with this condition, including your webpage. Its offensive, hurtful and makes a joke out of a condition that someone has unfortunately been born with and has to struggle with for the rest of their lives. You want to make a stand, remove the word completely!

    • Macey Cancer is a disease dwarfism is not. It is a genetic condition like blue eyes or black hair. Don’t waste money on changing genetics. I have a son with Achondraplasia and thanks to him have learnt so much. Also thanks to him I have met someone also with Achondraplasia. Yes an adult who is happy on his own skin as a little person. I have an autistic son too I am not looking for a cure it’s genetic. The cures I want to see are for 1-disease 2-ignorance but education should cure ignorance such as I’ve read under your name.

    • I believe this is a very personal choice. One every individual should make for themselves. I would tell anyone they are selfish for choosing to have or not have a child either.. This is personal…. and I absolutely think you deserve an opinion… and to say to me the right choice would be to do this… BUT …to say those who don’t are selfish in my opinion is rude and a very ignorant assumption. As you can see… MANY Lps wouldn’t change this… it is who they are… The same as having red hair… or green eyes. THIS IS A PERSONALLY CHOICE it SHOULD NOT be criticized by either side… we are ALL allowed to make our own life choices and paths… and we must take responsibility for our own actions… choices… and words… just cause someone’s choice is not what you’d choose doesn’t necessarily mean it’s wrong… it’s just different.

      • That should have read… I WOULDNT tell anyone they were selfish for making or not making that choice…

    • This is the most ignorant thing I have ever heard in my life. Did you “research” WHY the term midget is not acceptable and the term dwarf is? Obviously not. Get a life and leave this blog alone because you are really starting to piss me off. Do you have a child/friend/relative who has dwarfism? Or is it just that you have no life and want to bash on the way other people parent? This opinion that you have and feel so strongly about is pure ignorance and I’m sure 99% of the POLP/LP community agrees with me.

  12. I feel completely differently. I really think that we all need to be able to laugh at ourselves and that we should be able to shrug things off easily. Who is to say that ‘normal’ children don’t get teased? I think it is the way you handle it that makes the difference. If someone had said ‘Ask the Italian girl to do it’, would that have caused an uproar? So why does it if someone says ‘ask the dwarf to do it’? I have realised, people in the public are not trying to be nasty or discriminate, it is just the way it is received. We really need to lighten up. My daughter taught me that when she was 8 months old. People would stare at her, I would get all offended, and she would give them the warmest smile, people respond with a warm smile and then make an endearing comment. But if you get all defensive, they too get their backs up. Now I don’t even get offended by the word ‘midget’, because I really feel people are not trying to be derogatory, so why get all defensive?

  13. I am mother of six children Isaac age 18months has dwarfism. We use the word dwarf and the reason is because we adore him. We call my daughter Scarlett curly- her hair is curly we adore it. It doesn’t define them they are still themselves -loving their differences and being proud of their “special features” is part of the joy. We feel so blessed to have a child with dwarfism we were excited from the start because he is so unique and it’s an amazing experience for everyone. Isaac is still a baby but I’m certain that his experience so far has been extremely positive. I would never put him in for experiments. Just like I would never dye my ginger child’s hair black or cut of my Scarlett’s curls I love ALL of who they are and teach them to do the same. If he wants to change who he was born as I will feel I have failed him as a parent. He is who he came to be.. To take that away from him is tragic.

  14. Not one person has ridiculed anyone who is on the trial, they have just expressed their opinions and wishes for their own children. My daughter is part of that worldwide trial which is still ongoing a year later. Charmaine has always been very very supportive of that decision as are most POLP and adults with Achondroplasia. There is going to be no magic cure and we all must continue in trying to build an inclusive society. I am unaware of the word Dwarfisim being banned? Midget has long had negative connotations and the reality is you are speaking to people who live daily with the knowledge of their condition and constantly speak out regarding any verbal or written discrimination. You Macy are barking up the wrong tree and need to put your efforts into spreading the word to those who know no better, we here are totally aware of the fight and fighting amongst ourselves will not get us any further forward, so my advice to you is be positive and pick and choose your fights to get the message out there in an informative manner but please lets not attack those who walk the same walk!

  15. I have a question for you Macy… do you find that my blog is offensive because I have used the term dwarf and do you view me as being uncompassionate because I don’t want my child to be part of a drug trial because im not sure if there may be side effects that could cause problems for her. Unfortunately its sad because Leah will have times were she will struggle as you stated in the above comment…. she will struggle because of people like you becuse as you said and feel ….she i part of the “condition that someone has unfortunately been born with “

  16. Macy Christines Child is a part of the trials if you can read. The word DWARFISM is still very much used by all my sons Medical teams if you weren’t so opinionated you wouldn’t get this negativity but you see you started something you cant finish for you don’t walk in our shoes you are not yourself of short stature and therefore you can not say how anyone feels. Leukaemia is in fact a disease and hence yes there is scope to want cures. in future don’t say anything that you cant speak of from personal experience.

  17. NO Macy I said it will be unfortunate that she will meet people like you, who by the way is just as pig headed as the rest of us… like I said when Leah is old enough she can decide for now I decide and yes you are entitled to your opinion but it seems you don’t respect my choice.

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