Hereditary diseases

NanaDana - my comment on everyone being different in terms of talking was not only directed at the OP.
It was a general thought - and I didn't suggest anyone should be "bottling it up".

I had a cousin who had MS and one of DH's cousins has got it, but so far it hasn't appeared in any of the rest of our families. My oldest friend's husband had Huntington's. His mother had died of it so they knew there was always a possibility that he might develop it. It was still devastating when he started showing the first signs. My friend had 15 years of coping with it. Fortunately she could afford to pay for help but they had no children because of the risk and I think she felt very much on her own at times.

Interestingly I read an article about testing for hereditary diseases which said that women want to be tested but men often don't. The suggestion was that women want to plan for the future and make sure everything is organised for their family, while men would rather hope that it never happens.

I'm back again to catch up with the thread.

It's funny, sometimes I can talk things out on here that I wouldn't with family or friends, since this is anonymous (sort of), and since my sister has not yet had a full confirmation it is not my news to spread yet. My DH was out on a fishing trip, but has returned and yes, we had a good talk and hug.

Of course we all carry some form of disease, and of course we can't all live forever so something must take us eventually. I just hope for my sister and any others in my family that the cruel decline brought on by MS isn't in our future.

She is going to be undergoing more test in the next while and seeing a specialist.

This has opened up a very constructive conversation on hereditary diseases; the worry and sometimes guilt we carry. Thank you all for being a shoulder to lean on.

Marydoll

*Nana Dana*, there may be others, who will benefit from reading these posts and it is always good to a have a variety of perspectives.
I certainly have benefited from reading, while appreciating that it is not all about me.

That is what happens on GN, threads meander.

Couldn't agree more Marydoll, and I've made it clear that "talking it out" obviously doesn't suit everyone. However,, when the OP herself follows her frank and detailed explanation of the problem by saying: "I'm feeling I need to let it out, so am unleashing some of my worries to this good crowd", it seems clear that she's not in the "bottle it up" camp. That's all I'm saying.

Nana Dana, there may be others, who will benefit from reading these posts and it is always good to a have a variety of perspectives.
I certainly have benefited from reading, while appreciating that it is not all about me.

That is what happens on GN, threads meander.

NotSpaghetti

NanaDana

Talk it out with family and close friends... a problem shared etc. really works.

This is probably true for many people.
For others, quiet research (or something else) works best.
I would hate to have to talk it out with family and close friends. I do talk/mention little gems I've discovered (and weep on my husband if I need to) but definitely don't "talk it out".

We all have our own way of getting through difficult times and coping with investigations and diagnosis.
Don't push yourself to talk if you really don't want to- but don't bottle things up if you'd rather speak.
Thinking of you.

Not Spaghetti, may I respectfully suggest that the very fact that the OP has chosen to open up so frankly and in such detail on GN is a strong hint that they are perhaps more of the "talk it out" than of the "bottle it up" persuasion? Yes, sharing a problem doesn't suit everyone, but sharing it on GN goes even further than limited sharing with family and close friends. In which case, perhaps your suggestion "don't push yourself to talk if you really don't want to" has rather overlooked what's already happened. They posted specifically because they wanted to talk about it. Good for them A brave move.

The think is that I had no idea. We only found out when my son and DD went for IVF treatment.
The geneticist asked if anyone in my family had lung disease: my father, myself and DS2
Because I have RA and there was a chance of rheumatoid lung, which can be terminal, I was tested seven years ago. I have lots of symptoms, but don't actually have the disease. When I was first diagnosed in my twenties, there was little known about the impact on those who were carriers.

DS2 didn't want to go down the road of testing, (ostrich syndrome), despite nearly dying as a child from lung problems and allergies. He had a wee daughter eight weeks ago, who is chesty and has eczema! Exactly like her daddy and gran, right down to the red hair.😍

Marydoll, my children watched my sister continue to deteriote with CF and saw first hand what a cruel disease it was. They learned in Science how the gene for CF had a 25% chance of producing a CF child if both partners carried the gene ( in my parents case it was over 50% ). There was no hiding place for them with regard to seeing the suffering and cruelty of the condition.
My eldest daughter insisted on having the genetic test at 18, the others when they were considering starting a family. I doubt they would have risked having children if any partner had carried the gene after what they had experienced with a much loved aunt.
I wasn't genetically tested until after my sister died and already had my family (no genetic test was available back then when I had my children).
It's so difficult, would you rather know or not?

Hand trembled and pressed post . Didn't check spelling etc but that's what happens they have a mind of there own 🤷

You all got me thinking if I had know I had hereditary Hyperekplexia would I have had children? I had a long talk to my husband I know his dead but talk out loud everyday to him as it's given me comfort for 19 years. And the answer would have been yes we still would have had the children. The reason being none of us know how long we have to live and even though some of the conditions are horrific would you want to be without the family member who has it. Unfortunately some have a short life and suffer especially never the end of their life. But my fit healthy husband had cancer and his life was shorten and he was in agony when he died . But he had 47 years. But before he became terminal he was in no pain and we lived a normal life.

I have lived with pain in my legs from early childhood and fallen. When I was 29 and the limb jerks started the pain settled into my left leg and arm. Have some pain in my right leg and arm but no where like the pain in my left limbs. I have what I call pain flares when the pain gets worse usually in my arm sometimes I my leg and for the last 5 years rarely in both at the same time. But it's part of me and I just get on with life.

I was a hands on mom and the only thing I couldn't do with my children was walk then to and from school or playschool as it was in those days or get on the floor to play with them. They never came to any harm because of my limb jerks. But grew up with an understanding of disability and to an extent their friends did too.

I am estranged from my son his choice he sent me an email giving me the boot as his mom. But 2 of my grandson's where growing up with a disabled nannie. Unfortunately never met their brother or know his name .

But I see my daughter and grandsons every week. They are 5 and 2. 5 but even the younger one can tell when I am feeling worse as they both alter the games we play. Had the jerks with the older one was young but still my daughter and son in law trusted me by myself with him. Like my daughter it didn't bother her I am like I am as she loves and I am her mom.

Marydoll
I found the fact that one of my daughters was quite desperate to know if she was carrying a condition that I carry, was very hard. I was afraid she wouldn't be able to process all the information and felt deeply sorry that my children were having to think about this in a way that others do not.

She wasn't allowed to be tested till she was 18 (I think it was 18). It is of course this daughter who is also a carrier. It really mattered to her. She always wanted a big family from being quite small. At 33 she is better equipped to think about it and has discussed adoption.

One daughter didn't want to know and has a little girl now. She will have to have that discussion at some point in the future.
One daughter did want to know and was luckily "clear".

I found it very difficult to talk about carrying the cystic fibrosis gene to my children, because of the infertility issues. I was full of guilt, when I had to give them each a letter from the geneticist, explaining how to be tested if they wanted to have children.
It was not easy to talk it out!

NanaDana

Talk it out with family and close friends... a problem shared etc. really works.

This is probably true for many people.
For others, quiet research (or something else) works best.
I would hate to have to talk it out with family and close friends. I do talk/mention little gems I've discovered (and weep on my husband if I need to) but definitely don't "talk it out".

We all have our own way of getting through difficult times and coping with investigations and diagnosis.
Don't push yourself to talk if you really don't want to- but don't bottle things up if you'd rather speak.
Thinking of you.

My doctor friend said we all carry some defective genes and potential autoimmune conditions, so it's a lottery whether we pass them on, if they're active or recessive - and if a partner also has a copy. It's amazing, really, that so few people have any problems due to them.

One of my AC has a connective tissue disorder called Pseudo Xanthoma Elasticum ( PXE ). After diagnosis, at the age of twenty, we were told that this is a one in 50,000 condition, and that both parents will be carriers, though may not have the condition themselves. The elasticity of skin and blood vessels is poor, and can cause loss of sight, and problems with the blood vessels, as well as other difficulties. Pure coincidence that we both had the gene.

Whiff, I do understand your post, we cannot eradicate every disease nor expect to live forever.

In generations past, people died at a younger age of many types of ailments. If it weren't for modern medication and antibiotics many of us wouldn't have made it past childhood. In my own family, my Dad had MS, but his mother died in the late 40's of unknown cause, but she had been bedridden with an undiagnosed illness, now suspected to be MS.

In my husband's family there are early deaths from heart issues; his father had a massive heart attach at the age of 40 leaving 3 small children behind. Luckily my DH and siblings have had good doctors and with the help of modern medicine and bypass surgery for two of them, they are all now past the age of 60. We can only accept our time here on earth with grace and try to make the best of it each day.

Of course it worries me sick, for my sister and my family, but will try to stay up to date with information and do the best we can for our health. I guess forewarned is forearmed as they say, but it is still a bitter pill to swallow.

Well said Whiff. Eradicate was the wrong word to use. Let's hope treatments to prevent suffering, extend life and improve quality continue. I'm pleased I knew my sisters and that my parents gave me such a lesson in care and devotion with their determination to give us all the best life they could in such difficult circumstances. When my first sister was diagnosed my parents had no idea that the condition was hereditary. Information was very scant back then.
I'm pleased your condition had now been diagnosed and I admire the way you deal with what life has handed you with such positivity.

I am sorry to hear about your sister.

It is such a worry. We have several hereditary abnormalities in my family. Some of them have retinitis pigmentosa which causes blindness - it missed me and my siblings and my children and GC, so hopefully it will die out on this branch now. My mother had a variant of Lewy Body Disease which it is thought might be hereditary - every time I forget anything or have a small tremor I think the worst. And I and my DD are cystic fibrosis carriers - I believe it comes via my father who had lots of the symptoms that it is now realised that carriers can get; I too get them and so does one of my DDs. But so far so good on all the GC, so hopefully that too will die out.

Where any disease is concerned, inherited or not, I think that many of us have been in a situation where we have been waiting for a diagnosis which could be life-changing. I feel that the waiting can be worse than the actual diagnosis, as at least when you get it, you finally know for certain what you're dealing with. Telling someone in that position not to worry about it is pointless, as even when you manage to create some effective diversionary therapy for yourself, those worries do resurface, often in the wee small hours. All I can say is, don't bottle it up. Talk it out with family and close friends... a problem shared etc. really works. As you say, even GN is somewhere which can offer some support, and every little helps. Just know that you're not alone out there as many of us have been in a similar position, so do understand your anxiety and do sympathise. Hope your Sister has a positive outcome, and that you find that reassuring. Do have a good old heart to heart with DH when he gets back, and let it all out.

This is a very interesting discussion. There is a strong dementia/alzheimers pattern in my Mum's family, her mother and all her siblings (3 female, 1 male) having died or being incapacitated by it by 80, one with early onset dying at 70. Some of my Nannan's several siblings may have had it too. Sadly, it looks like my Mum may have it, she will be 80 shortly so has faired the best but it is still so sad and still talked about in hushed tones. Both my Mum and Dad have not accepted it and will not acknowledge it but my sister and I feel doing so would give Mum a chance of some treatment. It is still a huge elephant in the proverbial room.

Also I expect someone to complain about what I wrote and it be deleted. But hopefully some will read it before then.

Annapops the only way to eradicate these neurological and other illnesses is by gene manipulation and not letting people who have a history or the gene for the condition not to have children .

This is not a world I would want to live in. Having a hereditary condition doesn't mean you can't live a full life.

I don't believe in quantity of life but quality of life. It doesn't matter if you have a condition as long you have a quality of life even if it's cut short then it's a life well living..

I would never label myself disabled until I had my diagnosis because to me it seemed wrong as since 1988 I have met so many people worse off than me but live a full life. I have always been called disabled by Drs . But I know I have been disabled all my life . I look normal sitting down its only when I move you can see what problems I have . I was lucky I grew up with a loving and caring extended family that never tried as strange . My husband was a wonderful man. Who when I couldn't stop my arms and legs jerking . He just said we alter our life to suit what you can do and be a normal family. And anyway he knew I was damaged goods when we started courting . He was very cheeky my darling man. I was 16 he was 18. We had 29 years and married 22 together. And I cherish every minute we had . We argued but he's love for me and mine for him got us through some awful times. And his love for me keeps me going everyday.

Yes these conditions are horrible not just for the suffer but their families but they will never be eradicated nor should they be.

History has taught us what it's like for someone to want to breed a perfect human being . Look how that ended.

Thank you all for your kind responses, especially Deejaysmum for your informative post, and Anniegrannie you have my sympathy and understanding. We had to care for my father when I was a teenager, and it was very difficult for my mother raising a family of four plus looking after an ill husband.

For all of you carrying worries about hereditary diseases and family, you have my full empathy. Of course I will stay as positive as possible to support my sister's diagnosis, and will continue to promote a healthy lifestyle to my own family, as I always have, knowing that this tendency is familial.

I carry the cystic fibrosis gene inherited from both my parents. I consider myself very lucky as both my younger sisters died with CF, one at the age of 13 in the 1970's and the other at the age of 35 in the 1990's. As a family we are convinced the two baby boys my parents lost in the late 40's had the condition but " failing to thrive" is on their death certificates. Not much was known about CF back then and my youngest sister wasn't even diagnosed until she was 2 years old. My sister who lived longer had been on a lung transplant list before she died.
Fortunately treatments for CF are much improved today and my one hope is that if and when it rears its ugly head in my family again there will be a cure.
Although I am a carrier along with an elder sister I have no symptoms. I often wonder why I'm not affected and sometimes feel so guilty that I'm still here and those younger ones had their lives cut short by such a devastating illness.
My two daughters carry the defective gene, but not my son. Their partners all tested negative which made my daughters feel more confident having their own children. The GC have all arrived clear of CF and healthy.
We can only hope and pray that these dreadful illnesses will one day be eradicated.

I'm so sorry for everyone who is suffering from MS or has family members with this awful condition.
I have a close friend who has Huntingdons disease in the family and it has been so traumatic for them being tested and their children too. Some have opted not to know, I have no idea how I wouldreact.
I must admit to having qualms when I was pregnant and being adopted I had no family history. I did worry about hereditary illness.