Hereditary diseases

Just want to pass along my concern and understanding about whatever dread you may feel for your sister and your children. It’s real, it’s possible but it’s not always going to affect everyone - there are exceptions, what are the chances? You know it’s in the back of your mind always.

Try not to let it rule your life. Healthy living - proper diet, physical exercise, travel, friends, get involved with whatever interests you, positive attitude are important NOW.

Medical technology is making gigantic leaps and strides in finding cures, prevention. This is one disease they are focusing on.

Good to get this off your chest! Everyone needs to talk about things that are of concern or problematic. Gransnet offers a platform for shared experiences.
My best to you and all who have MS stories.
USA Gundy

I am an 80 carer for my son aged 52, he has secondary progressive MS diagnosed in April 2009. He has carers in 3 times a day to hoist him into his wheelchair and back into bed. They wash and shower, and dress him. He cannot have an electric wheelchair due to his eyesight, so I have to push him when we rarely go out as I have trouble getting him up kerbs even some lowered ones.

We have been told that it is not hereditary and we have not found anyone in our family who has it.

We go to an MS meeting once a month, which we both enjoy.

CanadianGran , I am not in a position to advise but can well understand your high anxiety. I wish you and your family well , and who knows all may indeed be well! Good luck 🍀🍀🍀

It's such a variable disease, I have one friend who has had it for many years and just has the occasional bad day. My husband's cousin developed it in her 30's and ended up immobile in a chair, dying very young.
I think that all you can do is try to stop imagining the worst and remember that treatments have come on a lot in the past few years.

Deejays Mum gives excellent information and comfort! Canadian Gran, I am in Canada too, Alberta...which has one of the highest rates of MS in the world...My daughter, now 40, was diagnosed with MS 4 years ago, 6 months after her daughter was born. She is a lucky one, her symptoms are not severe (slight balance issues , eye sight, easily over heated) and are managed through twice yearly infusions of Ocrevus. I was devastated when she told me (we were on holiday in BC at the time) and so so worried for her and her future. All is well with her now. There was only one instance in the very extended family of MS--my mother's half brother's granddaughter who is now 50 and doing well. I can well imagine your fear and good that you are acknowledging it and putting it out here. We will be monitoring my granddaughter (my one and only grandchild) for signs and thanks to DeejaysMum for her contribution to this. All the best to you and your sister...

I wouldn't worry too much about your sister undergoing tests to check for MS, as much as there's still no known specific cause for it, new treatments are being found all the time for those newly diagnosed with it.
I was diagnosed (dx) with MS in 1994 at the age of 26. At that time, I'd only ever been aware of 2 people who had it, one was a retired doctor for whom my mother was a home help, and my friend's mum's partner had been dx 18 months before me.
I didn't know anything about the different types/stages of the condition back then, only that both of the people I knew with it were wheelchair-bound.
Needless to say, I was terrified.
I have done a lot of reading over the years, and did actually discover that my mother's boss had Primary Progressive MS (PPMS), whereas the other guy and myself had Relapsing Remitting MS (RRMS), and that he had 'given in' to the condition and put himself (unnecessarily) into the wheelchair within a year of dx, which all gave me a little more hope than I'd had on the day of my dx.
I've also discussed my medical history with my specialist team, and it's apparent that I'd been suffering with numerous symptoms of the condition since I was around 9 years old.
I'm now 55, I'm still on my feet, although I can't walk very far, and I need a walking stick these days. I do think my stubborn outlook has helped to keep me going, as well as living alone makes me aware that if I don't do things for myself, there's no-one here to help me, so I keep plodding along, taking each day as it comes.
I've had a lot of issues with the condition, had various treatments for numerous symptoms, but NO treatment that's labelled specifically as being for MS. This is more than likely because in 2010, my dx was amended to Secondary Progressive (SPMS), and prior to this there were very few new treatments, but now, the majority of new treatments are for those who are newly dx'd with RRMS. I've not seen anything for SPMS.
About 6 years ago, my son (then aged 21) told me after he'd had a nasty fall one morning, that he'd been experiencing some of the same problems that I have with my MS, and he was worried that he might have it too.
Now, it is known that children of MS patients are more likely than the general public to get MS, but even so, that is still a tiny, tiny %age of the population, but just to be sure, I took him to see my GP (who had looked after me for years), and explained his dilemma.
She did some basic tests, which were obviously inconclusive, but didn't rule MS out, so she referred him to my neurologist, explaining his symptoms and pointing out that he is my son, and he was quite quickly called into the hospital for a consultation, then an MRI, etc.
Thankfully, his tests came back negative, but we were very nervous for several weeks, hoping it was all a false alarm.
So basically, what I'm saying, is that even if your sister does have MS, the prognosis is generally pretty good for those newly dx'd as there are far more treatment options than there were 29years ago when I got my dx.

We have the gene for Ushers syndrome in my family, two of my sister's children developed the disease as she later found out her husband also had the gene meaning a 50/50 chance their children would have it. There is no cure only management of the deaf/blindness and because they no idea they weren't diagnosed till they were early teens. Her son is seriously affected but his sister not quite so much. They both took the decision to not have children for fear of passing it on.
I do hope your friend gets a good outcome and lots of help if necessary.

Money is thrown at well know diseases but rare ones are costly to look into . But at least with research going into varies cancers and neurological conditions there are treatments that weren't available years ago . My husband had malignant melanoma grade 4 diagnosed in January 2001 and given 5 years to live he lived 3 . Had 6 tumours but we got him to his 47th birthday like he wanted he died 4 days later. But now there is treatment that can increase a person's life with it . Which makes me happy to know that my seem odd . But I would hate anyone to go through what my husband did.

My HPX was only first noticed in 1958 the year I was born. Now babies who show signs can get tested from birth or if a parent has one of the GL forms they are tested and put on Clonazepam as they will have it.

I am my neurologists only patient with HPX and none of his colleagues have any patients with it. But thanks to the Hyperekplexia Society Facebook page and people willing to share and answer my questions. My whole life makes sense. I am no longer alone and weird but have HPX and the group is world wide and has 943 members. Everything I learn I pass on to my neurologist.

Even the Brain Charity has never heard of it and they are celebrating 30 years of being formed this year.

So never give up hoping you will get a diagnosis. Genetic testing can detect things it couldn't 10 years ago.

I fully understand your anxiety. Husband had bowel cancer which was successfully treated. His DM died from it. Then DH developed prostate cancer, no history in familr at least that we knew of. 16 years survival died last year. However unknown to us prostate cancer has a link witth Triple negative breast cancer. Dd developed this, only survived 2 years from diagnosis. I have identical twin sons, one with a son, other with daughter. I just can't bear to think of what any of them may have inherited. DSs had to fight for a PSA test to give a base line for monitoring, they are not the magic age of 50 when tests are normally agreed. Both went private.

CanadianGran

My father had MS, and while a lot is still unknown about this horrible disease, there seems to be a genetic component. His mother died at a fairly young age as well, and it is thought she most likely had MS.

All my adult life, I have worried about my siblings, and then my own children. There is no genetic test, and it seems research has not pinpointed a specific gene, but only a tendency combined with environmental factors.

I have just had a nice visit with my younger sister (57), and she told me that she is undergoing tests to confirm or rule out MS. She has had some mild symptoms over the last few years, and has undergone an MRI showing some lesions on her brain, which can be a sign of stroke or possibly MS.

I am understandably heart broken and worried sick for her, but it adds a whole new level of worry for my own grown children. Somehow this fills me with guilt as well as worry, wondering if I have passed down this disease to them.

My sister has asked me not to say anything to anyone yet since nothing is confirmed, but I did tell her that I would let my DH know, since we do not keep things from one another. She has just departed to go home, and DH is away on a fishing trip, so I have not had a chance to talk to him. I'm feeling I need to let it out, so am unleashing some of my worries to this good crowd.

Needing a bit of a hand-hold, and please share any of your stories regarding inheritable health issues.

You have my deepest sympathy, CanadianGran. I am in a similar situation.
My maternal grandfather had Parkinsons Disease. My mother and her brother both had Alzheimers and a maternal cousin has MS.
Hope things are ok for your family.

My friend’s son was diagnosed with MS at 19 after an episode outdoors. The paramedics thought he was drunk or on drugs, but tests in hospital revealed MS. He took part in a trial where his blood was ‘washed’ every 3 weeks. She said it’s a bit like dialysis. The trial proved successful and he’s still going for the treatment 25 years on. Then about 15 years ago, his own DF was diagnosed with the same disease. It must have been passed to the son, but remained dormant in the father.
Surely research into and treatment of all these awful diseases and illness must progress in the future.

CanadianGran I'm so sorry that you are worried after receiving this sad news although its not confirmed yet so there is always hope. .
I'm sorry for anyone and their families afflicted with genetic disorders. I met many people with a number of conditions during my nursing career patients and staff. My own mother had RA and I have Lupus, my eldest daughter has Psaioritic Arthritis and her husband died of Pancreatic Cancer due to genetic Diabetes Type 1 from which his sister also died. My husband has Familial Hyperlipoidemia as have both of his brothers with their father dying at 68 after having several heart attacks. My husband started AF this year but he is 78 tomorrow so the statins and anti hypertensives have kept him going. As we know more about genetic diseases they will be diagnosed more readily and research into better treaments will ensue. That's my hope anyway.

My husband was diagnosed with MS only a few years into our marriage- back in the mid-1960's. It was thought that his late father had this disease - (his death had been due to an accident, nothing to do with illness), but there had not been any sort of definite diagnosis. We were told that it was highly unusual to find it twice in the same family!!!!!

Virtually no treatment back then, and for the first few years it had little impact on our lives. It was nearly ten years later when I was pregnant with babies No.4 &5, that he had a total relapse, and never after that was able to walk properly.

I did worry about out children for several years. His first symptoms had been very bad pins and needles in his hands - so if any of them complaned of 'dead leg' etc. I panicked.

He got slowly, but continually worse as the years past. He also thought he would have a premature death due to side effects of this horrible disease. Sadly, the worse part of the progress was his change in personality a he became more and more angry and bitter about his condition. It did break our relationship.

He is severely disabled, in a wheelchair (with a possum), during the day, and requiring carers to get him in and out of bed, etc. He is 81 years of age and still lives more or less independently by himself.

His brother's youngest son also got a diagnosis of MS a few years back. However, apart from taking life a little slower, it has little impact on him. lives a normal life with his wife, and two teenage sons. works full-time.

As all our children are now in or approaching their fifties. Eight grandchildren - Must say I do not even consider this sort of worry about them.

It does seem as treatment in early stages of diagnosis is so much improved now that (hopefully)_ it will not have the same devastating effect on lives as it did on ours.

My sister in law has MS but her son's do not have it. It can be hereditary or it can just happen to a person. There is no history of anyone else in her father's or mother's side of having it.

I finally got my diagnosis of what's been wrong with me all my life April last year and it's rare I have hereditary Hyperekplexia gene mutation SLC6A5 type 3. Little is known about it. But it's a gene mutation in the brain receptors which effects my limbs so have always fallen a lot from a young child and causes other problems . Because of the mutation I have means both my parents where carriers for it and it was a 50/50 chance of a child having it. I have it my brother doesn't neither do my or brothers children or my grandson's. I had my diagnosis few weeks before my 64th birthday . I am now 65. It's only because I moved to the north west and my new neurologist had my blood genetically tested. I suffered for 32 years from limb jerks and 4 months of seizures but thanks to him putting me on Clonazepam not had a limb jerk or seizure since March 2020. My blood was taken to be tested in January 2020 but he only got the results end of March last year. Also in 2020 thanks to my new GP sending me to see a cardiologist I found out that was also born with a hole in my heart luckily it's not in the connections between the chambers of my heart but on the side. It's small and doesn't cause me chest pain . I have PAF but taking heart tablets to regulate my heart beats as I miss some and on blood thinners.

If my parents had been alive when I got my results I would never tell them it is hereditary or about my hole in my heart. As my dad felt it was his fault because he had Dengue fever in the army. But I always told him it was just me.

Unless you or your children show symptoms please try not to worry I know it's easier said than done. But the treatment for MS has advanced since my sister in law got diagnosed over 20 years ago.

Thank you all for commiserating and sharing. My sister has always volunteered for the MS society and kept up to date with research. My father was diagnosed around 1975, when the disease was just being named and recognized as something separate. He was part of a study by McMaster University in Hamilton, Ont. My sister was only around 7 when Dad was diagnosed, and around 13 when he died, so she hardly has memories as him being healthy. Although I was older, and perhaps had more of a burden with his care as a teenager, I do carry memories of him as a healthy father. I was 20 when he died.

So little was known at the time, and so much more research has been done. New medications and treatments are available now, so the progression should be much slower (if indeed it is confirmed that she has it).

I am trying to stay as positive as possible for her, but also dread having to tell my own children that this may be a possibility in their own lives.

It's natural to worry about health issues. I am waiting for the results of some tests that could have profound implications if they are positive, so I understand. My head says that worrying won't help or change anything, but my heart doesn't listen.

The others are right when it comes to research though. It is changing the outlook for people living with inherited diseases all the time. Even if your children inherit MS, which is far from a given, there is every chance that by then it will be curable. Have a virtual hug (if you want one!) and some flowers though - it's impossible to try not to worry. Maybe ring the MS Society and see if anyone there can bring you up to date with the latest research and its implications for the future?

{{hug}}

my dear school friend who died in her forties married a man whose mother had muscular dystrophy ,They chose not to have children despite the fact she loved them.After she died he remarried and by then,just a few years down the line,there were tests available and he went on to have two healthy children now in their late teens .
Medicine/science can move very quickly so try not to worry about your own children too much.The outlook for them may well be much brighter than you think

You must have had such a shock.
I hope you can find the strength and resilience to deal with whatever the future brings.💐

I have RA, my mother, aunts, uncles, cousins had\ have it and also Lupus.
It looks like my daughter may now have it.

I also carry a defective cystic fibrosis gene, which caused infertility and lung conditions in my children.
I inherited that from my father and all my children and myself have serious lung conditions.

I carry a huge burden of guilt. My brain tells me it's not my fault, but my heart thinks otherwise.
I don't know what I would have chosen to do, if I had known before I married.

However, I can't change things, so worrying, fretting and being angry won't make any difference. It's difficult not to let it define me.
I channel my feelings into doing the very best for my family.
Being involved in research programmes means that my experiences will help others, who suffer from these conditions.
Hopefully using my data can improve things for future generations.
Science and medicine is developing at a fast rate and many now have better care than our parents.

I know two people with multiple sclerosis, one has had it for many years, the other is a younger woman. The younger woman had treatment very early on in her disease progression, and has remained very well for over 8 years since then. It’s an area where there’s lots of research happening, and increasingly effective treatments, so I’d be optimistic that if she does have it your sister can be treated.
You might find this link useful to get more information.
www.mssociety.org.uk/about-ms/is-there-a-cure-for-ms

My brother had Motor Neurone Disease, and just yesterday, I went into a panic just thinking about it. I have 2 sons. I can’t imagine how worried my sis-in-law must be. She has one son and 3 grandsons. No point in worrying I guess…just pray