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Just diagnosed with Becker Muscular Dystrophy
Hi, I’m 46 and I’ve just been diagnosed with Becker Muscular Dystrophy. I have two brothers and one of them (aged 53 and living in Canada) has got Muscular Dystrophy, believe it or not, the only reason I went to a genetic counsellor was to show ‘solidarity’ with my brother, I hadn’t realised that it was possible that I could potentially be suffering from it at my ‘advanced’ age. Interestingly it appears that my brother has been advised that he suffers from Duchenne Muscular Dystrophy but ths is different to what I’ve been told by my genetic counsellor who says I’ve got Becker Muscular Dystrophy.
I’m in a bit of a ‘shell shocked’ state about this still and I’m struggling to not dwell on it, particularly at work. After being diagnosed with the condition I’m now being referred to a cardiologist and a neurologist. I am concerned about my life expectancy, as there seems to be a lot of different information on the internet.
I have two daughters aged 9 and 13 and I understand that they are subsequently carriers of the condition. I’m trying to get more information about the potential impact upon them. My younger daughter sometimes complains about muscle pains and shortage of breath etc and I wonder whether she is showing the symptoms of Becker Muscular Dystrophy. There seems to be a shortage of information about BMD in girls but I understand that it is possible that they can suffer from the full blown effects. I’m not sure when, how and whether to get her ‘checked out’.
Does anyone share any similar issues? I wonder also if anyone can suggest useful sites etc to enable me to find out more.
Steve
Re: Just diagnosed with Becker Muscular DystrophyHello Steve, welcome to TalkMD
You may have already found these but I’ve posted a couple of links below on Beckers MD which is on the Muscular Dystropy Campaign site.
It can be very daunting when first diagnosed theres so much information to take in. Even now I find it can still go over my head! I think life expectancy is something that everyone concerns themselves with at same stage. I don’t know much about Beckers as I have Limb Girdle but I like you see a cardiologist, its mainly for precationary measures and I also see a neurologist once a year just to keep a check on things.
Becker United
Re: Just diagnosed with Becker Muscular DystrophyHi Vicki,
Thanks for that information – I’ll have a closer look at these web sites. I’m thinking of finding out about going private to see the cardiologist as my GP has said it may take up to 13 weeks to get the appointments. How long have you been aware of your condition?Re: Just diagnosed with Becker Muscular DystrophyI was diagnosed at 8yrs old. My parents new there was something wrong but couldn’t quite get anyone to listen so they paid privately to get answers. I’m now 36 and the research into MD has come along way since I was diagnosed.
Re: Just diagnosed with Becker Muscular Dystrophy@stevieg wrote:
Hi, I’m 46 and I’ve just been diagnosed with Becker Muscular Dystrophy. I have two brothers and one of them (aged 53 and living in Canada) has got Muscular Dystrophy, believe it or not, the only reason I went to a genetic counsellor was to show ‘solidarity’ with my brother, I hadn’t realised that it was possible that I could potentially be suffering from it at my ‘advanced’ age. Interestingly it appears that my brother has been advised that he suffers from Duchenne Muscular Dystrophy but ths is different to what I’ve been told by my genetic counsellor who says I’ve got Becker Muscular Dystrophy.
I’m in a bit of a ‘shell shocked’ state about this still and I’m struggling to not dwell on it, particularly at work. After being diagnosed with the condition I’m now being referred to a cardiologist and a neurologist. I am concerned about my life expectancy, as there seems to be a lot of different information on the internet.
I have two daughters aged 9 and 13 and I understand that they are subsequently carriers of the condition. I’m trying to get more information about the potential impact upon them. My younger daughter sometimes complains about muscle pains and shortage of breath etc and I wonder whether she is showing the symptoms of Becker Muscular Dystrophy. There seems to be a shortage of information about BMD in girls but I understand that it is possible that they can suffer from the full blown effects. I’m not sure when, how and whether to get her ‘checked out’.
Does anyone share any similar issues? I wonder also if anyone can suggest useful sites etc to enable me to find out more.
Steve
Hiya Steve
I have 2 daughters aged 7 and 5 and they have both been tested for Becker MD but their CK count is within the normal range but are both carriers themselves. I believe it is possible for girls to be manifesting carriers but is extremely rare.
I live in Scotland and we don’t have any muscle centres at all, we only have 2 part-time nurses for the whole country, I have never seen a Genetic Counsellor, have you found this useful?
Has your mother been tested yet? It seems that my mother passed it on to me but i don’t know if it developed in her for the first time but it seems likely as there is no history in the family.
I have been told that my girls will receive genetic counselling in their mid teens when they may become sexually active but i only see a Neurologist annually and i find that pretty poor really but MD is not high profile enough it seems.
Can you still walk about ok? I struggle unless on totally flat ground but if careful can more or less pass myself off as normal, i was told that being diagnosed at 28 was quite late so you have done really well!All the best mate
Ranald.
Re: Just diagnosed with Becker Muscular DystrophyRanald,
Thanks very much for your reply. Two daughters as well eh – we have a bit in common! At the moment I’m still a bit of a novice with all of this, I’m still awaiting advice as to how to proceed with getting my daughters checked out – I didn’t even realise that there was a test that could show that you’re actually suffering from the condition as opposed to just carrying it. I need to find out more about this CK test.
Seeing the genetic counsellor was useful as it gave me some very good explanation of how the condition transmits through the family etc. Because my brother suffers from it (he’s 53, but has suffered from a young age) and now it has been shown that I suffer from it, apparently it is virtually certain that we got it from my mother. My mother is in her 80s and getting her to go anywhere near a doctor or a needle is virtually impossible – she’s pathologically averse to the medical profession! I suspect my granddad had it, he died at about the age of 70, but mam says he died of anemia. It’s hard work doing the family research as in my family no one seems to want to know, or can’t remember.
I guess I’m very lucky still to be able to walk okay (currently), I suppose I must have a ‘mild’ form of the disease if there is such a thing. That was one good thing about being diagnosed late in my life is that I haven’t had to think about it and dwell on it – which I’m doing a lot at the moment. How did you first become aware of the problem? My biggest worry is my heart, as I can feel that it is affected, I’m seeing a cardiologist in October so will find out the state of play with my ticker. My brother has a weakened heart and was put on medication. Whatever the medication was had quite bad side effects on him and he said he felt half asleep all the time and he seemed to be getting depressed. He’s since complained to his doctor about this and got his dosage halved – now he seems much happier with it and seems to have a much better quality of life.
I haven’t got a date to see a neurologist yet, I’m not sure what they’ll do – do they assess your current strength etc? Thinking about it I suppose I have exhibited signs in my life of increasing muscle weakness but it’s never really been very obvious to me until I’ve started looking for it.
Steve
Re: Just diagnosed with Becker Muscular DystrophyHi Steve
I was eventually nagged into going to see my GP by my then wife as i was having real difficulty climbing stairs and had fallen a few times for no apparent reason, my GP took bloods and i was advised several weeks later to see a Consultant. http://www.muscular-dystrophy.org/about_muscular_dystrophy/glossary/356_creatine_kinaseI saw a Consultant Neurologist who advised me i had Becker MD and i was in total shock as i had no idea what MD was, it turns out that my very large calves (pseudohypertrophy) were a telltale sign and my Creatine kinase levels in the blood was very high, this is the proof i have BMD.
I see my neurologist annually and we chat for a few minutes and he examines my muscles, every 5 years i go for an ECG to make sure my heart is healthy. That is all the help i receive, i recently complained about pain in my Pelvic area and groin and have been given Co-Codamol in place of the Paracetamol by my GP.
I have attempted to contact the 1 part-time Nurse dealing with MD in the WHOLE of the EAST OF SCOTLAND but not surprisingly, have had no success lol.
Those in my extended family who were interested went to be tested but i am the only one who is affected and i am glad about that but in the beginning was quite bitter about it and my personality changed, might have been why my marriage failed but i guess i will never know.
Nowadays, i have accepted my condition and am grateful for the chance to watch my girls grow up free from MD, a great weight off my mind.
Best wishes, Ranald.
Re: Just diagnosed with Becker Muscular DystrophyHello steve don’t know where you live but go to your GP get a refferal to mr david hilton jones at oxford muscle clinic at john radcliffe hospital he is the best and you can see a cadiologist normally at the same clinic you will get ECG and a scan on your heart.I was 39 when diagnosed and my brother was 17 so it was a big gap it is unlikely your brother would have duchen md you can only have one or the other.As for your girls i have 2 and she gave us beautiful granddaughter they did’nt find out till they were 16 they were carriers but still went ahead with the pregnancy she was then 23 i hope this may answer some of your concerns.
Re: Just diagnosed with Becker Muscular DystrophyThanks Ranald and Ozzymarc for your advice and sharing some of your experiences. It is good to talk to people who have similar issues.
Re: Just diagnosed with Becker Muscular DystrophyHi Steve,
I share your concerns, I have two sons of 9 and 13. We were told last January that they both suffered from Beckers. It left my wife and I feeling empty. There is seemingly very little support and infact we recently discovered that Southampton Hospital had lost all our details! These sorts of forums offer the best support and fact finding.
As far as I am aware females cannot have BMD but can be carriers, the only thing they need to be checked for is the heart. I was very interested that you have only just been diagnosed and that gives me heart for my kids.
My eldest son takes medication for his heart, has done for the past month or so, with no side effects.
I suggest that you become a pain with your GP and get the referral to Hilton Jones. I am going to follow the same lead. Maybe see you there! The one bit of good advise we were given is carry on with normality, try not to push your muscles too hard but stay fit and take regular exercise.
Happy to talk anytime
James
Re: Just diagnosed with Becker Muscular DystrophyHi, I was diagnosed with Becker at the age of 49, but you may be interested to know that after a second biopsy which was taken for my daughters benefit (possibly starting a family) I was then diagnosed with Limb Girdle 2i (LGMD 2i).
It may be worth having a word with your consultant as there other problems to be thought about.Re: Just diagnosed with Becker Muscular DystrophySigned up just to reply to this as saw link on faceboook (finally got past the forum captcha!!) so might as well share all i know!
I am age 35 in south-east Kent and was diagnosed with Becker’s at around age 16/17 though i went via BUPA so my journey may have been different. Only two doctors (other than the specialists via BUPA!) i’ve come across have ever known anyone with the condition – one was my family GP who came across it during his days at medical school and one was the camp doctor on a boys’ brigade camp who saw my calf muscles and commented and asked me if i had beckers!
I used to walk on tiptoe as a child. I was always slow at running etc at school. However it didn’t stop me doing alot of walking right into my twenties in Lake District, and expeditions with tent on back. It’s only really in the last 5 or 6 years that i’ve started to have mobility issues and now find stairs impossible. It’s not an overnight thing..you won’t just wake up one day and find you can’t walk which is what used to worry me!
Things i struggle with are things like sit-to-stand from a chair, picking things up from the floor such as a full washing basket is impossible, walking up hills, getting up any step more than a couple of inches unaided. I take a walking stick with me now when out and about..though i don’t go out that often really as i don’t currently work. I do fall from time to time and have had quite a few twisted ankles and i’m always tripping over nothing ..though not broken anything yet fortunately!
I see a neurologist at the local hospital once a year …however he admits himself there is very little he can do for me and he doesn’t even have any other patients with MD so it’s all a bit of a farce. His only got me to get my kit off once in the 4 or 5 years i’ve been seeing him via NHS and i’ve more been educating him about my condition than the other way around! I had physio at the hospital via his referral a couple of years back that helped alot and gave me more confidence in my abilities but it’s no cure. I also had an Echocardiogram arranged via him a couple of years ago after i asked for it as i’d seen the risks. The recurring theme is nothing is offered to you…you have to do the legwork yourself. I think the reality is that all we can do is hope research comes up trumps though whether it will benefit those of my age i cant say…things have come a long way in recent years though.
I’ve seen a major acceleration in the amount of research in recent years with alot of it focussing around stem cell research, genetic engineering, and “molecular patches”. There was some recent research into the correlation of different missing exxons from dystrophin (i’m missing 45-53 i believe) to the onset of possible heart problems. The article is somewhere on MDC website but as a guide the onset of heart problems seems to be later for those with the higher numbered missing exxons like myself.
I come from a scientific background so i try to keep informed on research articles on the MDC website …much of the relevant research is centred around Duchene which is understandble as it’s much more progressive..however it’s hoped any miracle drug that relieves/cures Duchenne would be of benefit to those with Becker’s. If a drug was found tomorrow it would take maybe years to pass through drug trials so whilst there is hope a cure could be some way off.
As for being hereditary..the sons of those with Becker’s will NOT have becker’s, the daughters WILL be carriers. The sons of carriers have a 50/50 chance of having the condition, the daughters of carrier’s have a 50/50 chance of being carriers themselves. As far as i’m aware symptoms aren’t shown by the carriers of the condition. My wife is pregnant so if we have a daughter the condition will be carried forward..however i am very hopeful that by the time of any sons of daughters of mine a cure will come along.
I suggest printing off the article about Becker’s from the MDC website (make a few copies) and give them to anyone dealing with you for your condition. There is also a relevant article on the problems of dilated cardiomyopathy (i.e. heart problems) and one on care being taken with anaesthetics. Print them all out and give to your GP and consultant and ask them to put in your file. To find a healthcare worker who knows anything about becker’s you’ll be very lucky so it’s worth ensuring the articles are in your hospital notes in case of emergency.
There is also a medical card for those with Becker’s ask MDC to send you one, fill it in and keep it in your wallet. I think there is also a printable version somewhere on the MDC website.
Hope that helps. If you have any questions get in touch. There are a few of us on facebook who are all friends so add me there if you want. It’s nice just to have some support and know your not alone. I spent years of keeping my condition a secret from people as you tend to want to just be treated like everyone else.
Just make the best of what you’ve got..forget the name tag and don’t let it get down and life goes on as you are still you ..! In a way we are the lucky one’s as we don’t have Duchenne and can lead a pretty much normal life.
Andy
Re: Just diagnosed with Becker Muscular DystrophyWelcome to the board guys, some brilliant posts here, really informative. I’ve passed on this thread to our research team who will find it very useful. Our Research Communications Officer, Dr Kristina Elvidge, aka kelvidge, posts on here regularly.
And, andyb, I’ve changed the captcha so it’s no longer the impossibly difficult 3D one :D. Hopefully should make the sign-up process easier.
Sam
Re: Just diagnosed with Becker Muscular DystrophyHello:
I am very sorry to hear about you BMD diagnosis. One thing you can be very thankful is that you do not have Duchenne and that you are still doing very well. You mentioned that your brother, age 53, has Duchenne MD? Has he undergone genetic testing for that diagnosis, because I have never heard of an individual at age with DMD. Is he even in a wheelchair? That is pretty impossible and if he’s not not genetic testing – he really needs to.
For your diagnosis of BMD, be thankful for what you do have. We never know how we will exit this world and if, at your age, you are just getting diagnosed now, you are doing extremely well and can live a long and wonderful life.
It seems very hard to believe your brother has DMD. Most folks with this diagnosis find out in very early childhood – between the ages of 3 and 6. They do lot live to see age 40 – if that. My son was diagnosed with DMD at age 8 – and he is A-typical. Your brother would have to be a miracle.
Good luck and remember, this is not the end of the world – just take care of yourself with regualr check ups and you will be grand.
Re: Just diagnosed with Becker Muscular DystrophyHello IrishGirl and welcome to TalkMD
Across the years, reading and meeting people, hearing their experience with MD diagnosis I have found that often despite a wealth of information available to the professionals, accurate initial diagnosis seems to be a tad of a hit and miss affair. But as I often say, the more we discover the more variables there are to consider, no one person can possibly compute every known symptom set up to come out with one definitive decisive determination.
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.com
Re: Just diagnosed with Becker Muscular Dystrophy@mesamb wrote:
And, andyb, I’ve changed the captcha so it’s no longer the impossibly difficult 3D one :D. Hopefully should make the sign-up process easier.
Good move! You should be able to find a phpbb plugin for a captcha with audio somewhere to cover all bases (used to be a computer programmer and so self-taught myself PHP and dabbled with PHPBB in the past as well as flogging web hosting :ugeek: ).
Re: Just diagnosed with Becker Muscular DystrophyCheers for the tip
, will have a look when I get a chance. Re: Just diagnosed with Becker Muscular DystrophyHi guys,
I just wanted to flag up what research those interested in Becker MD should keep an eye on. Here are my top 3:
– Myostatin inhibition with either a drug called ACE-031 or gene therapy (http://www.muscular-dystrophy.org/research/news/2297 and http://www.muscular-dystrophy.org/research/news/2612)
– Utrophin upregulation. The first clinical trial of this gave some disappointing results but they are still working on it (http://www.muscular-dystrophy.org/research/news/2568)
– Stem cells, might be still some way off, but moving forward (http://www.muscular-dystrophy.org/research/news/2700)And for heart problems they are testing a new drug which looks promising:
http://www.muscular-dystrophy.org/research/news/2207.Kristina.
Re: Just diagnosed with Becker Muscular DystrophyThanks Kristina..had read the first ones the other week before seeing my consultant so i think i’m upto date. I tend to spend the day before seeing consultant catching up so at least we have something to talk about! I always read any article on Duchenne as they are generally relevant to becker’s too.
The article i mentioned in my previous post about correlation of exxons to onset of heart problems is here (had to dig a bit)
Re: Just diagnosed with Becker Muscular DystrophyYeah, that one was a little while ago but still relevant. Pretty complex stuff though, I think a geneticist would be needed to work out how it applies to a particular person’s mutation!
You’re right a lot of the Duchenne research is applicable and sounds like you’re well up on the latest news. Let me know if you spot something that I’ve missed!
Perhaps the only Duchenne research that isn’t applicable is exon skipping because that is essentially trying to turn Duchenne into Beckers. Gene therapy using AAV virus may or may not be of use. They have had to design mini-dystrophins because the gene is too big to fit inside the virus. They looked at particularly mild cases of Beckers where large chunks of the gene were missing and based the mini-dystrophins on that. So I guess it depends on what your mutation is and how severe your symptoms are as to whether gene therapy would help. However, one project we are funding is looking at trying to get the whole dystrophin in with gene therapy:
http://www.muscular-dystrophy.org/research/grants/current_grants/1591
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