myotonic dystrophy

Thanks Tigertooth. Yesterday I spoke to my son and he said that they were having the eldest tested. The worst that could happen is that she is found to have the condition which would mean she would get support from the school. It seems the school don't think they need help because my DIL didn't turn up for a meeting that she argued was at the wrong time...what they don't realise is the depth of stuff she is dealing with. Also as she has the condition this interferes with mental processing, focussing and socialization. loads of mountains. The fact is he is the only one in family of five that they know doesn't have the condition. So hard. The school don't know about the premature baby with CDM1, they dont know that DIL has adult-onset DM1 or the possibility that the eldest has child-onset DM1. They have said they have done their best and parents not willing to cooperate! The middle child of 5 is so far without symptoms and let's hope she has escaped it. (50/50 chance of the mutation of the gene being passed on). I hope my son tells the school, he had to stop talking to me on the phone after a few minutes as DIL interrupted to say she wanted him to trim her hair...I don't think she likes him talking to me.

I know little about this bit couldn't ignore it. God bless.

One final word - don't you ever give up on your gd. I kept a pair of football boots which I knew my ds would probably never wear but to have thrown them out would have meant I had given up hope. You must never give up hope and as she grows up you be very proud of that little girl.

25Avalon thank you thank you thank you thank you. That is just what I need to hear. You know this morning my DIL posted on FB how she was feeding her baby in bed and listening to another daughter sing the twelve days of christmas and she was feeling very happy. And you know baby is a litttle fighter. When she had the nasal feeding tube she kept pulling it out...which is what my son thought and I thought I expect it is accidental...but following her lead he started giving some of her feed orally until the hospital hesitantly said fine a little, they did a bit more and within a week she was totally orally fed and no more nasal tube and she started it. and she was out of breathing apparatus after both lungs had collapsed in a few weeks. She has such a mountain to climb. But there is a lot of hope and I so respect your experience. And it has helped writing it all down and that someone heard.

Very sorry to hear that it is the worst kind of Mytonic Dystrophy and that you have not had the support that you need. The Muscular Dystrophy Group here in the Uk are very good and do cover Mytonic Dystrophy as well. They keep you up to date with all the research that is going on which gives real hope. With my son we had a Family Care officer who helped us with house adaption, education etc and we also had a specialist consultant.
I know where your ds and dil are coming from - just take one day at a time. When there is a mountain to climb don't look at the top, just proceed with small steps. If you look at the very worse you will be overwhelmed and unable to appreciate what you have now. Gradually acceptance will come but there may also be anger, disappointment, and despair - this is all part of the natural process of how we adapt and cope. I found fund raising to be a useful way of channelling my negative thoughts to achieve something positive.
I do hope your gd survives this first year. She sounds a little fighter. You will learn a lot from her. Bless you all.

harrigran I think so too - have just bought them a new table they asked for - and I bought the pram - DIL told me she was so pleased to be able to pick a new pram of her choice as her previous pram had been passed on...it is those little things that can help. And somehow not being too heavy about it...very difficult balance and lavenderzenyou're right and thank you..
Thanks 25Avalon. Both my DIL and GDD who has the congenital form has the #1 (not the lesser #2 variety, unfortunately) . The worse one. They affect different genes. I emailed the UK support group months ago and sent them money for membership and they never replied. Eventually, I received a 'form written' letter and membership card. So not over-impressed with their support. They didn't reply to my letter. I can see that if there was a local group and I had a child with the condition in my care I could go along to events...but that is not the case. And the child is not in my city, which I don't think has a local group. I can't tell son and DIL to take her to a group...they are just not ready for it - maybe never will be. What I can do is send the group money and keep in touch and get their newsletters which are mainly about group meetings...I find the group in San Francisco very informative. Although some of the forums I am in hate their new name 'Myotonic'. It makes the people with the condition feel objectified and 'other'. But the charity argues that the easily remembered name enables them to raise millions for research...at charity balls...(14 million raised at one in November) It's a weird world which we sometimes have to play along with. I think the muscular dystrophy group very good.
I am so sorry to hear about your son. You were in the front line I am very much in the background - over an hour away...not responsible for the daily care. But of course I worry about it. Worry about the future. I think there is/was a 30% chance of baby dying in first year which hospital feel confident she won't do. But when I hold her her chest rumbles as she breathes. She feels so fragile. Really whatever keeps my son and DIL going I will do. They, I think will approach problems as they happen...not before. Oh dear.

This is a terrible shock but you must not lose hope. There is tremendous work being done on Muscular Dystrophy, of which myotonic is one form, at the moment. Lots of gene therapy research is offering real hope for the future. Also you do not say which form of myotonic dystrophy your daughter has - one kind is less severe than the other and mobility is retained for many years.
You need to find out as much as you can about Myotonic Dystrophy as well as receiving support and I suggest you contact The Myotonic Dystrophy Support Group which has a central helpline and network of regional links supported by professional advisers. Please give them a try.
I know you are feeling devastated at the moment and probably feel that life will never be the same, that you will never laugh, enjoy food, again, but gradually acceptance will come and you will. It is a hard path. My son had Duchenne Muscular Dystrophy and one of the things you do learn is to enjoy every day as it comes and be glad they are still with you. I do hope that your daughter has the milder form and many more years. And the GD as well. One day a cure is going to be found and it's getting closer. My very best wishes to you at this difficult time.

Reading your further posts R&R I can understand how very difficult this is for you and all your family. I know nothing about the condition but just having a quick research and reading your posts it must be so distressing for you.

Sometimes it is easier for people not to discuss things, like your DIL, it is just their way of dealing with things. I think you are doing the best you can, reassure them that you will always be there to help if needed.

Everyone on here will listen and be there for you. Just come back when you need someone to talk to.

My prayers and love are with you

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.

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.

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 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

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

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.

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

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 ?

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

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.’

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.

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.

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.

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

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.

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.

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?

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.