What Is FOP? The Mannequin Disease

Updated on April 10, 2017
Nell Rose profile image

Nell is a trained psychologist who writes about personal health problems. She is also fascinated by strange medical anomalies.

FOP
FOP

What Is Fibrodysplasia Ossificans Progressiva?

Fibrodysplasia ossificans progressiva, or FOP, as it is better known, is a progressive genetic disease that causes the soft tissues of the body to turn into bone. The person's muscles, bones, tendons, ligaments, as well as other soft tissue and connective tissue, are eventually taken over by bone. The bone will grow wherever an injury has taken place. Even on uninjured tissue, the bone will start to grow and form bridges between the connective tissues.

The bone will also begin to grow over all the joints in the body, thereby freezing the person into place. This may take many months or years, but one day the person will find that they won't be able to move that part of their body anymore. Some have used the term "mannequin" to refer to this disease.

FOP is caused by a genetic mutation. There are 45 people in Britain with the disease and only 700 around the world. The first sign that a child might develop the condition is the growth of two malformed big toes. This is usually visible from birth, but it may develop a few months later.

The abnormal bone growth that defines this condition typically begins at the top of the body and works its way down. People with the disease will start to stiffen up around the neck, shoulders, and top of the arms—and gradually the disease will progress downward through the body to the feet.

Explaining Fibrodysplasia

FOP Mutation and Possible Genetic Treatment

There is a mutation in the gene named ACVR1/ALK2, a bone morphogenetic protein (BMP) receptor, that occurs in all affected individuals. People who have FOP carry one normal copy and one damaged copy of the gene in each and every cell. In layman's terms, this means that the mutation will increase the amount of BMP in the cells to greater than normal levels. The increased BMP kicks off a sequence that tells the cells to make more bone.

Scientists now hope to use a special type of RNA molecule engineered to specifically switch off the damaged copy of the gene. This process is known as RNA Interference, RNA1.

This process restores the cellular function by getting rid of the mutant cells. In other words, the bad cells are taken away, thereby adjusting the protein's activity back to normal levels.

The clever thing about the whole process is that the stem cells are taken from the patient's own teeth. The patient's siblings also contributed their teeth to balance the normal controls. Believe it or not, this is called the FOP Good Fairy Tooth Program.

Obviously scientists have a long way to go. Testing on mice will need to go ahead for some time, and other considerations have be studied. For example, scientists are looking into how to safely deliver the RNA into human cells.

Louise Wedderburn, FOP Mannequin
Louise Wedderburn, FOP Mannequin | Source

Louise Wedderburn, the Human Mannequin

Louise Wedderburn is a 19-year-old woman from Fraserburgh in Aberdeenshire, Scotland. Recently profiled on British TV, Louise states that FOP is not going to beat her. Her condition is getting worse, and she fears that she will be frozen in an upright position.

Standing up straight or even sitting down is a problem because of the way her bones have formed. She is afraid that she will be confined to a wheelchair—but even that could be a problem because of the shape and position of her frozen bones.

But does she feel sorry for herself? No way! Even though she has been home schooled, she has attended a school prom, absolutely adores fashion, and has even taken her first steps into the world of fashion with a stint at London Fashion Week and work experience at Elle Magazine. This girl is not giving it up easily. She has recently started her own fashion blog.

Louise Wedderburn
Louise Wedderburn | Source

Louise Is an Inspiration

Louise first noticed her condition at the age of three, when she fell over and hurt her elbow. It turned out to be FOP and not a broken arm. As she got older and hit her teens, the disease progressed more, and she is now frozen in both her arms. Her spine is frozen, too.

She is determined to continue in the world of fashion, but she obviously must be careful not to overdo it. If she gets even the slightest injury it can cause her body to spontaneously grow more bone.

Skeleton of Harry Eastlack
Skeleton of Harry Eastlack | Source

FOP Cases In History: Harry Eastlack

There have been many stories that state people have turned to stone. But are they talking about Fibrodysplasia? Well, it certainly seems so.

The best known case is that of Harry Eastlack (1933-1973).

His condition started to affect him at the age of ten, and by the time he died in November 1973, his whole body had turned into a "statue," with the ability to move only his lips. He was 6 days away from his 40th birthday.

His whole body had ossified. Before he died, he made it known that he wanted to donate his body to medical science in the interest of trying to find a cure for the disease. His skeleton is now at the Mutter Museum in Philadelphia.

Sources

Webb, Sam. "Girl, 17, battling rare disease that transforms her muscle into a second skeleton and will turn her into a living statue." Daily Mail. July 28, 2013. Retrieved Dec. 31, 2016.

"Fibrodysplasia ossificans progressiva." Wikipedia. Retrieved Dec. 31, 2016.

Branagh, Ellen. "How 'human mannequin' disease teenager Louise Wedderburn is battling the odds to become a model." Independent. Nov. 1, 2012. Retrieved Dec. 31, 2016.

Questions & Answers

    © 2012 Nell Rose

    Comments

      0 of 8192 characters used
      Post Comment

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        2 months ago from England

        Thanks Zulma, yes me too.

      • phoenix2327 profile image

        Zulma Burgos-Dudgeon 

        2 months ago from United Kingdom

        I can't even imagine how painful this must be. Let's hope science continues to make stride in finding effective treatment and, eventually, a cure for this disease.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        2 years ago from England

        Hi Audrey, yes its pretty grim illness isn't it? imagine getting so stiff you turn into a statue! ouch! thanks so much for reading, nell

      • vocalcoach profile image

        Audrey Hunt 

        2 years ago from Idyllwild Ca.

        Good heavens! I'm completely 'bowled over' by this terrible disease. Youve done a great job here Rose. I won't be complaining about my aches and pains anytime soon.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        4 years ago from England

        Hi Jo, feeling better? thanks for coming back, I think we are probably both right, to be honest! lol!

      • LadyFiddler profile image

        Joanna Chandler 

        4 years ago from On planet Earth

        Hi Nell well yeah everyone have their right to their opinion i guess. I am cool if you are for science no problem. Just saying how dee doo. Hope you are fine.

        Keep good deary :)

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        4 years ago from England

        Thanks Jo, I am always interested in your opinion, and of course nobody really knows, I tend to go for science but of course religion could well be the answer, hope your having a great day, nell

      • LadyFiddler profile image

        Joanna Chandler 

        4 years ago from On planet Earth

        That ain't normal nah i believe every sickness is of the devil, satan doesn't like to see anyone happy or in good health. You can relate it to the story of Job in the bible where he afflicted Job's body and family etc. I do not believe everything science prove because they are known to contradict themselves and everything is genetics or hormonal etc. Sometimes they don't know what hoots they talking about.

        When Jesus was healing people, He use to always satan come out of the woman or the man etc. Even when Legion who lived in the tombs and had 6000 demons in him that cause him to be mad "mentally ill" Jesus asked them to leave this man and they asked him to send them into the pigs. So as far as science is concerned proving some of these things thumbs down. I ain't saying some don't be true but i think they know a little too much for me.

        Have a wonderful day Nelly

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        4 years ago from England

        Hi Jo, back in the old days they probably would think that it was some sort of curse, but of course its pure genetics, sadly, but they are so amazing aren't they?

      • LadyFiddler profile image

        Joanna Chandler 

        4 years ago from On planet Earth

        Hi Friend hmm that sure is a scary ordeal to endure. Especially if you look like that in the pictures above where the bones are really bent up. May God have mercy these sickness are initiated directly from HELL.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        4 years ago from England

        Hi Jo, yes its an awful thing to happen, but I think these amazing people are so brave, and going for it, kudos to them, and good luck to them, thanks as always, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        4 years ago from England

        HI Genee, yes it certainly does sound like FOP doesn't it? and what a terrible decision to have to make! what's best for the child? I would hate to be in that position, thanks as always, nell

      • LadyFiddler profile image

        Joanna Chandler 

        4 years ago from On planet Earth

        WOW WOW WOW!! what's next in line of these horrible diseases . I am so sorry for her she is such a pretty girl i pray that God heal her soon . This is not nice for anyone to endure i can just imagine what she suffers and others who do have the same sickness.

        Thanks for sharing this Nell i never knew about it :)

        Now leaving work am outta here :)

      • JamaGenee profile image

        Joanna McKenna 

        4 years ago from Central Oklahoma

        Nell, I recently saw a PBS documentary about genetic conditions in fetuses that, after much hand-wringing and weighing the pros and cons of the quality of life their baby would have, the prospective parents chose to end the pregnancy. Although they did not mention the scientific name of one condition featured, I suspect it was FOP, as tests and such had already determined that the baby would never be able to bend its limbs or joints (i.e. its wrists, fingers and toes) or move normally.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        4 years ago from England

        Thanks Healthnews, glad you liked it, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        4 years ago from England

        Hi MsDora, thanks so much for reading, yes its such a strange and sad illness, its not something we would even think about or could happen, but their attitude is awe inspiring, thanks again, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        4 years ago from England

        Hi Pawpaw, yes its pretty grim isn't it? but those guys in the video are amazing! thanks so much for reading, nell

      • MsDora profile image

        Dora Weithers 

        4 years ago from The Caribbean

        The disease is mysterious, but even more of a wonder is the attitude of these two people you mentioned. Sad and inspiring at the same time. Thanks for the information on this condition.

      • Pawpawwrites profile image

        Jim 

        4 years ago from Kansas

        Can't imagine having to deal with such a thing. I hope a cure is found for these people who have it.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Thanks Karine, she certainly is, thanks so much for reading, nell

      • Karine Gordineer profile image

        Karine Gordineer 

        5 years ago from Upstate New York

        Louise Wedderburn is truly a brave and courageous woman. Thanks for sharing this condition and her story with us.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Thanks Flourish, yes here's hoping they find a cure for FOP soon, thanks for reading, nell

      • FlourishAnyway profile image

        FlourishAnyway 

        5 years ago from USA

        Fascinating read on what is thankfully a rare condition. I hope relief in the form of a cure is around the corner for them.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Spongyollama, yes I do understand where your coming from, its a fascinating yet unpleasant illness, hopefully they will be able to discover a cure for FOP soon, thanks for reading, nell

      • Spongy0llama profile image

        Jake Brannen 

        5 years ago from Canada

        Fascinating. I saw this on an episode of Mystery Diagnosis a few months back. Makes me afraid of having children to know what kind of hand nature can deal them :/

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Zipper, yes hopefully they will find a cure for all those people who have this and other illnesses, its such a shame, thanks for reading, nell

      • ZipperConstantine profile image

        Zipper 

        5 years ago from United States

        There are so many diseases and syndromes in this world. Some of them so awful (like the mannequin which I just learn of from you) it is almost unbelievable. We have so far to go in understanding the human body and how to heal all the zillions of problems it can have. One day I hope there will be genetic tests you can take before having children that can identify horrible diseases so we can stop passing them on.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Ken, thanks for reading, nell

      • KenWu profile image

        KenWu 

        5 years ago from Malaysia

        This is so scary... can't imagine if I myself turning into a statue. I hope someday, a cure would be found and end this disease.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Victoria, thanks for reading, yes I totally agree, wouldn't it be great if they can find a cure?

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Thanks Jama, yes I get confused with all the changes too, thanks for the email I have written it down, so I will delete it now, thanks so much, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi eHealer, thanks for reading, I think its because its so rare, it doesn't appear in the hospitals very often, thanks so much for your lovely compliment, you made my day! lol!

      • Victoria Anne profile image

        Victoria Anne 

        5 years ago from Las Vegas

        Wow this is really shocking. Thank you for sharing and spreading knowledge about this disease, hopefully a cure will be found soon.

      • eHealer profile image

        Deborah 

        5 years ago from Las Vegas

        Nell, this is fascinating! I've been an RN for 30 years and have never seen this rare disease. How horrifying for the sufferers, ossification and immobility with a clear and unaffected mind! Thanks for writing this fantastic hub, you are an excellent writer! Pinned and Facebooked for sure!

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi PDX, yes she is isn't she? I hope they do find a cure for it soon, she and all the other sufferers deserve it, thanks for reading, nell

      • PDXBuys profile image

        PDXBuys 

        5 years ago from Oregon

        That was a fascinating article! I didn't know anything about this disease before I read your hub. Now I want to do more research... Louise Wedderburn is a courageous and beautiful young woman. Inspirational...

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Jama, great to see you! yes you could be right, I am sure taking those chemicals probably didn't help your friend, such a shame though, thanks as always, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Jama, great to see you! yes you could be right, I am sure taking those chemicals probably didn't help your friend, such a shame though, thanks as always, nell

      • JamaGenee profile image

        Joanna McKenna 

        5 years ago from Central Oklahoma

        A friend had this or a similar condition. I say "similar" because her muscles didn't start turning to bone until her late 30s/early 40s after what she first thought was whiplash when her car was rear-ended. The opposing insurance company demanded a medical report, which showed it wasn't whiplash at all (but the accident may have triggered the onset). Personally, I always felt, in her case, the cause was her taking near-lethal combinations of whatever street drugs were floating around (this was the 80s). If I'm wrong, then putting so many different chemicals in one's system at once probably didn't help matters. My heart goes out to those who were born with the malfunctioning gene, and hope a cure is found ASAP.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi torrilynn, thanks for reading, I am sorry to hear you have lupus, yes Louise is a real inspiration, as are the other FOP individuals too, thanks, nell

      • torrilynn profile image

        torrilynn 

        5 years ago

        this hub was very interesting and unique. I thought I was worst off when I found out that I had Lupus, but this disease is far worst than that. I would be sad if I had this disease but I would continue living life. Such as Louise is by continuing to model and fighting the disease. I am inspired by this and other FOP individuals. Thank you. Voted Up.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Thanks Michele, yes I totally agree with you, this is such a horrible thing to have to put up with. I hope they continue to study it and find a cure soon, it looks like its on the horizon so thank goodness for that, thanks for reading, nell

      • Michele Travis profile image

        Michele Travis 

        5 years ago from U.S.A. Ohio

        It is so sad and horrible for the people who have this. I pray there is a cure or a way to prevent this from happening is found.

        Thank you so much for writing this.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi nifwlseirff, yes I totally agree with you, to suffer from something like this but not let it put you off is amazing stuff, I have so much respect for all the sufferers, thanks for reading, nell

      • nifwlseirff profile image

        Kymberly Fergusson 

        5 years ago from Villingen Schwenningen, Germany

        The pain must become unbearable for FOP sufferers. I have an immense amount of respect for people who continue to chase their dreams, despite the incredible challenges they face. Thanks for raising awareness of this very rare disease!

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi b. Malin, thanks as always for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi K9, thanks for reading, yes Louise is amazing isn't she? such a strange condition, thanks, nell

      • b. Malin profile image

        b. Malin 

        5 years ago

        Hi Nell, I had never heard of FOB, before I read your most Educational Hub. What a Sad disease, with no Cure. Doctors are still learning about this rare disease, which hopefully one day, there will be a cure for. Thanks for sharing this Enlightening Hub.

      • K9keystrokes profile image

        India Arnold 

        5 years ago from Northern, California

        Wow, this is absolutely terrifying condition. Your hub really gives us an in depth look at FOP. At 19, Louise Wedderburn is an amazing inspiration. Good stuff, Nell!

        HubHugs~

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Rosie, thanks for reading, nell

        Hi Richard, yes she was wasn't she? such a sweet little thing, so sad, thanks for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Rosie, thanks for reading, nell

        Hi Richard, yes she was wasn't she? such a sweet little thing, so sad, thanks for reading, nell

      • Richard Craig profile image

        Richard Craig 

        5 years ago from England

        I saw that program on the BBC about Louise Wedderburn. I'd never heard of the disease before then. She was pretty amazing at coping with it and she never let it get her down. Truly an inspiration.

      • Rosie writes profile image

        Rosie writes 

        5 years ago from Virginia

        I had never heard of this condition. Thanks for providing such in-depth information. Excellent article!

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Thanks Haydee, I totally agree with you, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi grandmapearl, thanks for reading and the vote, yes I agree when we moan about aches and pains it does certainly put it into perspective, thanks nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi lovedoctor, thanks so much for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Blossom, thanks so much for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi drbj, thank you for reading it, it was on tv and really got my interest, thanks so much, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi beth, yes me too, and really great to see you, hope the books going okay?

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Thanks for reading teaches, yes louise is really brave, and I do hope they find a cure for this, its a very strange disease but hopefully soon it will be eradicated, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Thanks christopher, yes I hope so too, thanks for reading, nell

      • christopheranton profile image

        Christopher Antony Meade 

        5 years ago from Gillingham Kent. United Kingdom

        Thank God it is a very rare disease. I hope they find a cure soon.

      • teaches12345 profile image

        Dianna Mendez 

        5 years ago

        Nell, I hope research is increased and does produce some cure soon for this disease. What a brave woman Wedderburn is to continue liviing with hope. I had not heard of this disease before, my heart goes out to those who suffer from the effects.

      • bethperry profile image

        Beth Perry 

        5 years ago from Tennesee

        Nell, what a horrible disease! I sure hope science can help bring a cure very soon. I read this Hub and couldn't help but feel so very fortunate compared to these victims of the disease. Inspiring and useful, voted up.

      • drbj profile image

        drbj and sherry 

        5 years ago from south Florida

        This is a rare devastating disease and it is gratifying to know that scientists are testing RNA molecules to halt its spread in the afflicted individuals. Thanks for your assiduous research in bringing this to our attention, Nell.

      • BlossomSB profile image

        Bronwen Scott-Branagan 

        5 years ago from Victoria, Australia

        What a horrible disease! I do pray that the cause and cure can be identified soon. Thank you for telling us about it.

      • profile image

        lovedoctor926 

        5 years ago

        thanks for spreading awareness about this rare disorder. I don't mean rare in a bad way just its not too common

      • grandmapearl profile image

        Connie Smith 

        5 years ago from Southern Tier New York State

        Nell, this is amazing stuff! I hope medical science can help these people sooner rather than later. Makes all those little everyday aches and pains seem less than trivial in comparison. Thanks for calling attention to this heart breaking condition. Voted Way Up

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi alocsin, yes louise was on tv and she was such an inspiration, that's what started me on the look out for the subject, thanks so much for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Michael, yes I hope so, hopefully a cure is just around the corner, fingers crossed, thanks as always, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi, Victoria, thanks so much for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Veronica, I believe the illness starts off when they are young, so they get used to it over the years, but still it is a hard thing to put up with, good for them and louise for showing how strong they are, and thanks for reading, nell

      • VeronicaFarkas profile image

        Veronica Roberts 

        5 years ago from Ohio, USA

        This is very interesting, but so horrific. I can't imagine the shock and fear felt when first hearing the diagnosis, and as the disease progresses and the body "freezes" a little at a time. It must be so scary.

        Louise is an inspiration. I, too, hope that a cure is found!

      • Victoria Lynn profile image

        Victoria Lynn 

        5 years ago from Arkansas, USA

        I have never heard of this disease. How awful. And how brave Louise is. Bless her heart. I hope a cure is found. Thanks for sharing this.

      • molometer profile image

        molometer 

        5 years ago from United Kingdom

        Hi Nell,

        What an incredible story, these poor people.

        It must be hell, to live daily watching your body seize up.

        It was good of that chap Harry Eastlack, to donate his body to science, maybe they will figure something out.

        3/5 and voted up. Sharing.

      • alocsin profile image

        alocsin 

        5 years ago from Orange County, CA

        This is quite scary and something I didn't know about. It's great that you've enclosed a video showing somebody who won't let the disease get the best of her. Those are always inspirational. Voting this Up and Useful.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi merrottet, thanks for reading, yes it is a strange disease, and one I hope they can find a cure for, thanks nell

      • mperrottet profile image

        Margaret Perrottet 

        5 years ago from San Antonio, FL

        What a horrible disease. Let's hope that the Good Fairy Tooth program is successful, and they can find a cure. This is a really good, comprehensive review of a little known disease. Voted up and interesting.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi btrbell, thanks so much for reading, and I totally understand what you mean, glad you liked the hub, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Ruby, that does make sense I suppose because there are so little sufferers from it, I had been aware of it before, but properly until I saw the louise program, that's what you call grit and determination good on her! thanks so much for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi kitty, yes she is so pretty isn't she? she would make a great model, such a shame, but then again her attitude is go for it, so good on her, thanks so much for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Chewy, that's it exactly, I was moaning this morning that I had a back ache, then I pulled myself up and told myself not to be so ungrateful, thanks so much for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi girishpuri, thanks so much for reading, nell

      • girishpuri profile image

        Girish puri 

        5 years ago from NCR , INDIA

        Very informative and useful hub, i have never heard bout FOP before, thanks for the update, Nell.

      • profile image

        Chewy Mommy 

        5 years ago

        I never knew this disease even existed. It's so tragic. Little Josh's story broke my heart. It really makes you stop and realize the problems that seem so big in our own lives are really small compared to what others have to go through.

      • kittythedreamer profile image

        Kitty Fields 

        5 years ago from Summerland

        This is awful. I've never heard of this until now, Nell. And I'm glad you educated me on this, because if I ever have a patient with this condition at least I'll have a basic understanding of it. How sad, but how gorgeous is she? Voted up and useful.

      • always exploring profile image

        Ruby Jean Richert 

        5 years ago from Southern Illinois

        This is so heartbreaking. The video of Josh was difficult to watch. This is a new disease to me. We didn't study it in nurses training. Thank's Nell..

      • btrbell profile image

        Randi Benlulu 

        5 years ago from Mesa, AZ

        This is horrible. Not the hub, the disease. I had no idea such a horrific disease existed and I thank you for bringing it to light for me in such a clear, comprehensive hub.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi elle, thanks for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi avian, thanks for reading, they really do have so much courage, and determination, good on them I say, makes me feel so humble, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi avian, thanks for reading, they really do have so much courage, and determination, good on them I say, makes me feel so humble, nell

      • elle64 profile image

        elle64 

        5 years ago from Scandinavia

        Sad ,so sad .I never heard about this disease-

      • aviannovice profile image

        Deb Hirt 

        5 years ago from Stillwater, OK

        I hope that something can be done for these people soon. I just cannot imagine turning to "stone" and never being able to move again.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi billy, thanks for reading, yes it is a horrendous thing to happen, hopefully soon there will be a cure and then it will be something of the past, thanks as always billy, great to see you, nell

      • billybuc profile image

        Bill Holland 

        5 years ago from Olympia, WA

        I am blown away by this hub! I had no idea this existed. What a horrendous condition....I can't even imagine what this would be like. Thank you my friend for bringing this to the light of day. Simply amazing and horrible.

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi mary, thanks so much, yes their courage is amazing, as long as josh can carry on as much as he can, and louise too, then hopefully they will see a cure in their lifetime, thanks nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi carol, thanks so much, yes poor little Josh, the fact is that only 700 people around the world have it, how strange is that? hopefully the cure is there on the horizon, and they are young enough to be able to adapt to it, thanks for reading, nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Thanks richard, yes it's a fascinating look at how the body does strange things, then we have to look at the human value and see the pain, but those people in the vids have so much spirit, good for them, and good luck to them in the future, thanks nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Hi Sinea, yes I totally agree with you, they are so brave with this, and I love louises spirit for doing her fashion stuff, good for her, thanks nell

      • Nell Rose profile imageAUTHOR

        Nell Rose 

        5 years ago from England

        Thanks Gypsy, yes I do hope in a couple of years the gene therapy will go through, I do believe that's what they mentioned on louises program, fingers crossed, it will be wonderful, nell

      working

      This website uses cookies

      As a user in the EEA, your approval is needed on a few things. To provide a better website experience, healdove.com uses cookies (and other similar technologies) and may collect, process, and share personal data. Please choose which areas of our service you consent to our doing so.

      For more information on managing or withdrawing consents and how we handle data, visit our Privacy Policy at: https://healdove.com/privacy-policy#gdpr

      Show Details
      Necessary
      HubPages Device IDThis is used to identify particular browsers or devices when the access the service, and is used for security reasons.
      LoginThis is necessary to sign in to the HubPages Service.
      Google RecaptchaThis is used to prevent bots and spam. (Privacy Policy)
      AkismetThis is used to detect comment spam. (Privacy Policy)
      HubPages Google AnalyticsThis is used to provide data on traffic to our website, all personally identifyable data is anonymized. (Privacy Policy)
      HubPages Traffic PixelThis is used to collect data on traffic to articles and other pages on our site. Unless you are signed in to a HubPages account, all personally identifiable information is anonymized.
      Amazon Web ServicesThis is a cloud services platform that we used to host our service. (Privacy Policy)
      CloudflareThis is a cloud CDN service that we use to efficiently deliver files required for our service to operate such as javascript, cascading style sheets, images, and videos. (Privacy Policy)
      Google Hosted LibrariesJavascript software libraries such as jQuery are loaded at endpoints on the googleapis.com or gstatic.com domains, for performance and efficiency reasons. (Privacy Policy)
      Features
      Google Custom SearchThis is feature allows you to search the site. (Privacy Policy)
      Google MapsSome articles have Google Maps embedded in them. (Privacy Policy)
      Google ChartsThis is used to display charts and graphs on articles and the author center. (Privacy Policy)
      Google AdSense Host APIThis service allows you to sign up for or associate a Google AdSense account with HubPages, so that you can earn money from ads on your articles. No data is shared unless you engage with this feature. (Privacy Policy)
      Google YouTubeSome articles have YouTube videos embedded in them. (Privacy Policy)
      VimeoSome articles have Vimeo videos embedded in them. (Privacy Policy)
      PaypalThis is used for a registered author who enrolls in the HubPages Earnings program and requests to be paid via PayPal. No data is shared with Paypal unless you engage with this feature. (Privacy Policy)
      Facebook LoginYou can use this to streamline signing up for, or signing in to your Hubpages account. No data is shared with Facebook unless you engage with this feature. (Privacy Policy)
      MavenThis supports the Maven widget and search functionality. (Privacy Policy)
      Marketing
      Google AdSenseThis is an ad network. (Privacy Policy)
      Google DoubleClickGoogle provides ad serving technology and runs an ad network. (Privacy Policy)
      Index ExchangeThis is an ad network. (Privacy Policy)
      SovrnThis is an ad network. (Privacy Policy)
      Facebook AdsThis is an ad network. (Privacy Policy)
      Amazon Unified Ad MarketplaceThis is an ad network. (Privacy Policy)
      AppNexusThis is an ad network. (Privacy Policy)
      OpenxThis is an ad network. (Privacy Policy)
      Rubicon ProjectThis is an ad network. (Privacy Policy)
      TripleLiftThis is an ad network. (Privacy Policy)
      Say MediaWe partner with Say Media to deliver ad campaigns on our sites. (Privacy Policy)
      Remarketing PixelsWe may use remarketing pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to advertise the HubPages Service to people that have visited our sites.
      Conversion Tracking PixelsWe may use conversion tracking pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to identify when an advertisement has successfully resulted in the desired action, such as signing up for the HubPages Service or publishing an article on the HubPages Service.
      Statistics
      Author Google AnalyticsThis is used to provide traffic data and reports to the authors of articles on the HubPages Service. (Privacy Policy)
      ComscoreComScore is a media measurement and analytics company providing marketing data and analytics to enterprises, media and advertising agencies, and publishers. Non-consent will result in ComScore only processing obfuscated personal data. (Privacy Policy)
      Amazon Tracking PixelSome articles display amazon products as part of the Amazon Affiliate program, this pixel provides traffic statistics for those products (Privacy Policy)