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myotonic dystrophy

(33 Posts)
Rocknroll5me Fri 27-Dec-19 11:58:38

My DIL has just been diagnosed with this. She is just 35 and it follows genetic testing as my grandaughter was born prematurely in August with the congenital form. I am very sad and have no one to discuss it with or share my grief as they don't want to talk about it . It is a progressive neuro- muscular condition and I worry that another of my gradaughter has the child onset variety. It also effects intellectual development and socialisation. I just wondered if anyone on gransnet has any experience of this condition.

Luckygirl Fri 27-Dec-19 12:10:23

I do not have experience of this, but sending you love and kind thoughts - how very difficult for you all. flowers

I wonder if there are any relevant support groups online?

annsixty Fri 27-Dec-19 12:16:26

So sorry that you and your family are having this to deal with.
You are powerless to give anything but love, practical help and total support.
Pleas get in touch with the relevant society as Luckygirl has suggested. You will be in contact with other families dealing with the same problems and issues.

Yehbutnobut Fri 27-Dec-19 12:45:01

So sad to read your post Rocknroll you must be devastated, as must your son and DIL.

It might be that, as they find out more and try to come to terms with this diagnosis then, the time will come, as a family, when they do want to talk.

Just let them know when that time comes you are there and perhaps in the meantime do some research ?

💐💐💐

Rocknroll5me Fri 27-Dec-19 13:37:26

Yes thanks for that. I have done my research ever since baby was diagnosed a couple of months ago. My DIL was told two days before Xmas that she has the condition, very insensitive of them I thought.
The trouble with the forums of the charity and association is that they are linked to Facebook and are not anonymous.
One day perhaps my DIL would want to join and she would see me there discussing her condition.
Hence gransnet.
It reminds me too of when my late husband got motor neurone disease at 31...some people just drop away. Already my SIL has dropped contact. It’s very odd. Perhaps it’s best not to tell people.
I just wondered if anyone else was in similar position x
My son told me on Xmas day when they were all with me but said she didn’t want anyone to know. She won’t know that I know.
My son is either being very wise or very stupid when he says that he told her it made no difference she is the same person as she was before the diagnosis. I suppose I just want to talk about it. I understand why they are in denial. Over the baby too though she is very poorly. But she has learnt to breathe and suck... no focussing, very floppy, has s faint bleat instead of a cry. Utterly heartbreaking and nothing to be done except show massive support and love.
I think the worst is that it is progressive. I will just have to put it aside with my grief and be patient and wait till there is anything I can do.

annsixty Fri 27-Dec-19 13:59:16

That post is so heartbreaking, I wish you well.

Yehbutnobut Fri 27-Dec-19 21:29:14

I’m saddened you have received so few replies to your post. I would have expected more support for you.

In real life you will find out who your true friends are, as will they. People will surprise you. Ones you thought of as true friends might well drop away and others, less close, can often step up to the mark...but you know this already.

lavenderzen Fri 27-Dec-19 21:50:59

I am so sorry to read what you are going through. It is heartbreaking.

I send you ((hugs)) flowers love, hope and prayers xx

jacq10 Fri 27-Dec-19 22:13:41

This must be devasting for your whole family especially following on from your DGD's diagnosis. I'm sure once the family are able to focus more they will receive guidance and help both from professionals and friends. One of the leaders of a music group my DGS attends was down in the south of England recently at a big event connected with muscular dystrophy and she regularly posts on social media various activities and fund raising events that are going on. I hope you get the support you and your family need.

grannyqueenie Fri 27-Dec-19 22:56:15

It’s so difficult being the granny when something like this happens. Your heart will be breaking watching your son’s sadness, as well as all the concern and worry about your grandchildren. It might be worth googling Contact a Family, they have information available on line about all sorts of conditions and you may be able to access some some support for yourself more anonymously from them. Your son and dil will have to find their own way of coping with it all, they’re probably still assimilating it all. It’s hard though if you’d prefer to talk about things more openly and they’re reluctant to do that. Have you friends locally with whom you can talk freely and in confidence?

dragonfly46 Fri 27-Dec-19 23:39:38

I have no knowledge of the disease but my heart goes out to you all.
It is all very new at this time and hopefully as they come out of their present state of shock your DiL and DS will look for help and support.

SueDonim Sat 28-Dec-19 00:01:53

I’m so sorry you’ve had such awful news, Rocknroll5me. I hope you can find support later on when the initial shock has subsided. flowers

Summerlove Sat 28-Dec-19 00:12:32

Your poor DIL and don’t, first with their poor child so ill, and now this diagnosis for DIL.

I think telling her before Christmas was actually a kindness, she must have been so stressed out waiting.

As you are meant to not know, all you can do is the support you had been doing. Just keep up with that.

I’d think it completely natural for them to want to process together as a small family first.

I’m sorry your family is dealing with this

crazyH Sat 28-Dec-19 00:34:49

How sad for your d.i.l. and sad for the whole family. So young, too. My brother was diagnosed with MND when he was in his 60s and we thought that was young. I don't know whether there are varying degrees of the condition. If so, let's hope hers is the mild type. May you all find strength to deal with this awful news. flowers flowersflowers

Sussexborn Sat 28-Dec-19 00:35:28

Such a devastating time for all concerned. So hard to carry on as normal whilst carrying such a heavy load.

It is shocking when people you thought of as good friends turn away but I found that others who were on the periphery of my life stepped forward so hopefully you’ll find the same.

Rocknroll5me Sat 28-Dec-19 13:08:11

When I first got annsixty's reply tears sprang. It kind of made it real. I was in the park, walking the dogs and was surpised how much a bit of recognition and support helped. And I think perhaps I have kept people away with the subject being 'myotonic dystrophy' its not click bait is it !
Thank you all very much for your support. It does help.
It is the commonest of the muscular dystrophies apparently, though still quite rare. It is genetic - a specific gene which has a repeat of CTG of up to 35 times, which is typical, suddenly doubles and doubles till after about three generations of no attributable symptoms a baby will be born with the congenital form. There is 99% chance that the mother has the adult-onset form (usually starts in 30's). When the genetic testing was late they had convinced themselves that everyone had got it wrong - then came the diagnosis.
My DIL was coping very well on Xmas day..she is a very attentive mother and even after nearly 5 months is expressing her milk daily even though her baby is unable to take it without it being mixed with thickener as she might choke.
My other worry is (now I have become an expert in the condition - as you do!) is that my eldest granddaughter has the child-onset DM1. We thought she was on the spectrum and she shows autistic traits and the school has told parents that she needs special educational needs. One of the symtoms of child-onset DM1 is autism it also affects intellectual development) She is 7 and this xmas it is more evident. She disguises it well but has no communication skills - she copies and does her best. She is just not there. Such a lovely sweet girl. Will they test her? If she is diagnosed will that get her more help? Or as my son fears will it label her?She was excluded from the nativity concert this year which deeply upset them and my DIL went to the school and insisted she was able to sing. She is not at all disruptive but she will at no notice take herself off and never respond to her name. We worry that they think she is being rude. So for those reasons a diagnosis will help. When my son walks her to school he says lots of children call out to her by name and she ignores them and when my son asks why she just says she doesn't know them. There is one other GDD who is five and she seems typical and is getting on very well socially at school. So fingers crossed.
The strange thing is is that I have never been able to communicate withh DIL. I have tried and tried. She would never walk with us, eat with us visit us. But now I understand I think she too has been hiding difficulties that she didn't understand. It is a very cruel condition.
Thank you for reading. The act of writing things down to an audience of just a few does help. And as for those who know from experience how strange it is in those who give support and those who don't. So true. I suppose people think bad luck might be infectious.

SueDonim Sat 28-Dec-19 14:01:23

Rocknroll, I hadn’t heard of this condition before your thread and I’ve only had a quick google since so I have no real idea of what is involved. However, your latest post suggests to me that lots and lots of things about your family are dropping into place for you and that must be a massive thing to cope with. Your head must be reeling with it all.

For your older GD, pushing for a diagnosis sounds as though it could be very beneficial for her. Lots of services are likely to become available with a ‘label’. A label doesn’t change the person involved, she will still be the same child you love. For instance, a friend of mine has a daughter with Down’s Syndrome. She isn’t a Down’s victim/sufferer, she is simply a child amongst several siblings, who happens to have Down’s Syndrome.

Another friend who has spent her working life with children with disabilities always says ‘When you’ve met one child with disabilities, you’ve met....one child with disabilities.’ smile

felice Sat 28-Dec-19 15:25:03

flowers So sorry to hear of this, you and your family are in my prayers.

BlueBelle Sat 28-Dec-19 15:51:54

Only just seen this thread and would like to add my sincere thoughts to you I too hadn’t heard of this and had to use google before you explained it more It is devastating for you all but and here is the but you have to keep hope modern science is always coming up with new cures or ways to deal with these congenital/genetic illnesses
I m sure there will be a society that isn’t affiliated to fb they can be so useful and informative I belonged to one and it is phone consultations if wanted and a monthly newsletter nothing on social media at all
I think when your son said it won’t make any difference he meant his love for his wife and child/ren
Babies can defy all odds too, my friend s grandson was born with a big problem and he was expected to always be peg fed but he has defied all medical knowledge and can feed normally and is coming on in leaps and bounds so never lose hope Rocknroll she’s sounds like a fighter as she’s now learned to breath and suck so a little trooper, your daughter in law also sounds as if she will just get on best she can
A big hug for you all 💐

Sparklefizz Sat 28-Dec-19 16:06:26

flowers for you Rocknroll. So sorry to hear what you are going through as a family.

You might find a different closed group that you can join. When you have a moment in the New Year, it would be worth looking online because however much support people can give you, on here for instance, there is nothing like being able to share fears,thoughts and feelings with people who truly understand. I have a rare pancreatic disease and came across a closed FB group and they have helped me no end because there is always someone in the group who has got the same symptoms or worries as me.

I wish you all the very best, and send you a big hug, and for all the family. xx

Framilode Sat 28-Dec-19 16:16:12

I am so sorry to hear this. How difficult for you all. You seem like a very loving, caring person who will do the very best you can do for them. I know what I have said makes absolutely no difference to the very sad problems your family face but I didn't want to read and not comment.

Witzend Sat 28-Dec-19 17:34:47

I’m so very sorry, Rocknroll, it must be so hard and worrying for you all.
I can only send heartfelt sympathy.💐

MadeInYorkshire Sat 28-Dec-19 18:22:57

I am so sorry Rocknroll, what a terrible thing to happen - I think possibly the lack of responses is down to the time of year, and more will come once people have settled down to normality after NY. I do have a friend who has a brother with Huntingtons which I am assuming will be similar - she was tested but is clear thankfully, but she has cousins who have since been tested and are sadly positive for the disease. They in turn between them have many young children sad so there will be a great deal to be decided upon at some point. It was thought that her father had died of a brain tumour, but it obviously wasn't and only now her brother has it have they realised what it was.

Another friend has a son with Autism and some other what seemed unrelated medical issues - it took them 14 years before he was 'Statemented' (sure they call it something else now?) He missed out on a lot of support during his school years so yes, I would push for a diagnosis for your DGD.

I think that maybe giving the Helpline number a call and explaining the situation might be the best way forward? You can be as anonymous as you like then
and they may be able to put you in touch with someone who can support you who may be in a similar scenario?

www.myotonicdystrophysupportgroup.org/contact-us/

Take care xx

Rocknroll5me Sun 29-Dec-19 09:22:49

Thanks again all. I am a member of the society above and use a couple of closed groups on Facebook - which are very good. What I meant was that I have to just read and not contribute as my DIL might want to join - then I will be visible to her. Do you see what I mean? Perhaps I'm just over worrrying. Hopefully the more she accepts her condition the more she will in time want to reach out for support. She is a very 'private' person. She will not brook any interference either. When I questioned the eldest's behaviour which suddenly changed when she was two I noticed she didn't answer to her name, I wondered whether she had a hearing problem and was given very short shrift. And my son said that DIL had walked out of a doctors surgery when a consultant wanted to test her. It upsets her very much and my son totally supports her. So until they, in their own time, want to explore more there is nothing I can do.
I do agree with you Bluebelle that at least they know what causes it and they might well be able to control the effects in time. I will keep on top of it ...and the American association www.myotonic.org/ are very informative on research. So yes there is hope. Also every person experiences it differently - probably depending on how many 'repeats' they have. I don't know how many repeats DIL or the baby has. I have asked my son but he dismissed the question. All in time perhaps. The British group are old school and produce pamphlets and I was shocked to hear that when my DIL was informed that baby had the condition she was alone in the evening, she had gone into intensive care to see baby. She asked why there were people round her cot and said the consultant was shaking when he told her that she had congenital myotonic dystrophy and handed her a leaflet to explain it! (from the charity). How thoughtless. Poor girl. She rang my son in floods of tears, too upset to get a taxi, he got the other children out of bed into car and drove to get her.
So I have to go at their pace...another thing - the baby has talipes in both feet (club feet) (most common symptom of the condition) I know in the US the baby would have casts on her feet by now, all DIL and son have been told is to massage her feet. And there is a long wait for physiotherapist. Both son and DIL think that her feet are like that because she was premature and they got twisted in the womb...no mention of club feet...
Role of grandmother ... its difficult. If I am not careful I will lose all contact with DIL as it is I have to go through son.
A few years ago when I first wondered whether GDD1 was deaf I emailed DIL's mother because they saw a lot of the children and they stayed with them etc. We had met a few times and she seemed very sensible. DIL is an only child and very close to her father. I received an email back from her father telling me not to write again as DIL's mother had trouble with her vision and couldn't see to read and write. I would have to write through him. I find him over-controlling, perhaps I'm wrong but I didn't write again. I like talking to women. Neither DIL not her mother can drive and yet her parents moved house last year even further away from them...which seems so odd. When they could have moved nearby and helped with the day-to-day, picking children up from school? People are sometimes a bit mysterious: there has been no contact between us since. (except xmas cards) I have no idea how they are about the baby. I ask my son imagining that they come and stay and look after the GDDs/ and I told my son when the baby was born that it would be a good idea for the children to go to their grandparents ...after all I had heard they had bought the bigger house to accomodate them and was told there was a room each for the girls. but that didn't happen. DIL discharged herself a day after the birth.
I have never been allowed to have the children and have never been alone with them except accompanying them when they explore my, or daughter's, house then DIL quickly follows.
Till now I thought that was the most heartbreaking thing - but as Job discovered - never think anything is the worst.
Writing about it does stop it going fruitlessly round in my head so thank you for reading.

harrigran Sun 29-Dec-19 11:57:57

I have not been reading all of GN so apologies for coming late to this thread.
I am so sorry that this is happening to your family.
Babies born to mothers with the faulty gene tend to be more seriously affected.
Offers of practical help are probably the way to go as you say DIL does not want to talk about it.