Daughter just diagnosed at 20, should we have genetic testing done?

[scaredmom]

Just found out my 20yr old daughter has PKD. We have never heard of this before in either family. I am terrified and dont know what to think/do. They only found because she was having pain and the did scans/ultrasound and noticed multiple cysts. They suggest genetic testing, what are pros and cons to that?

[Zhiwei]

Sorry to hear that. Talk to the doctor. It may be tricky but stay positive.

[DeanSamson]

Hi, I totally understand where your coming from. I was diagnosed 3 years ago (I'm 32 now) I was having pain in my side which got slowly worse over time. I eventually went for a ultrasound scan thinking I had a kidney stone and they found cysts on my kidneys. Then went to the nephrologist and urologist who confirmed I had pkd. My life was in tatters. I told my family who no of which have any symptoms mam,dad 4 brothers, aunties uncles nanna and grandad. I also have 2 son's ages 3 and 7 who's show no signs yet. But I will get them tested to be sure at 16. 2 of my brothers have been checked out and they don't have it. The nephrologist called it a sporadic mutation where they think I have it but no one else does. Finally - my advice would be not to panic as there is a chance this won't effect anyone apart from your daughter but I would recommend the family having a scan which I'm sure your doctor will arrange anyhow. If anyone else does have it, it's better to kow asap so they can make small lifestyle now changes which could help a lot further down the line. Has your daughter had a blood test? How are her kidneys working? Stay positive - all the best

Dean

[15tan in reply to DeanSamson]

Sorry to hear about your daughter. My mother was diagnosed PKD stage 4 many years ago and we were advised to get ourselves checked out as it is a hereditary disease. Two sisters, niece, nephew, an aunt and I have it at various stages. I was diagnosed stage 2 and stay at this stage through changes of diet and lifestyle. My niece and nephew in their twenties (stage 1) also stay at this stage till today. I think it is best get check it out so one can make changes to lifestyle to manage it . Stay positive, my life hasn't changed that much since I learned to accept and live with it.

[scaredmom in reply to 15tan]

Thank you for your reply, what were the best diet changes that you have made? They just told me to have her eat more healthy but looking online I am trying to figure if that means less protein now or is that just if it progresses. I see so many things out there I am confused.

[15tan in reply to scaredmom]

I try not to eat red meat and avoid salt whenever I can. My normal diet includes fish, salad, grains and chicken. I also drink 2 litres of water everyday, moderate my intake of alcohol. Another important thing is to keep a healthy body weight. I do cardio exercises (running or walking) for an hour three times a week. This might seem hard work but once I got into my routine it is no trouble at all. Good luck.

[scaredmom in reply to 15tan]

Ok thanks I am going to do all of this with her to give her some support and hopefully not feel so different. Better eating and exercise is good for all of us. I guess if we start slow with less salt and red meat and more water and get used to all of this will help. Thanks!

[15tan in reply to scaredmom]

Hi,

Yes, support is very important and I am lucky that my partner is very supportive, this made life style changes a lot easier. Reducing salt gradually is a way to go. I use sea or rock salt whenever I need it as you need only a little. Don't use the Lo salt varieties as they are full of harmful chemicals. Lots of fruits and vegetables are also good for healthy.

Best wishes

Ivan

[scaredmom in reply to DeanSamson]

Thanks Dean, the same thing happened, we thought she was having an appendix attack since it was bothering her in the front side, then pains would not go away so they did a ct scan which showed some cysts, then they did ultrasound as well. Its not anything we know of that anyone in the family has or had. Kidneys are working fine, blood pressure is a little high as well as cholesterol, which we have been watching since she was young. The doctor said to just drink lots of water and try and eat healthy and come back in Nov to do a retest. She is not really understand all of it I think and I am not sure how to explain more without terrifying her.

[tillymint16]

Hi Scaredmom

I understand your shock at recent news about your daughter. I was diagnosed when I was 16 and I'm 57 now. In great health and only suffer high BP which is well controlled. PKD is usually inherited so other members must be checked as it very often has no symptoms. It is a slow moving condition and a lot can be done to assist the sufferer. Being monitored by a kidney consultant is vital, with 6 monthly blood tests to monitor kidney function.

There are many strains of PKD from mild to kidney transplant so try not to panic. Although I have PKD I also have modifiers which is a stronger gene from my Dad which is slowing the PKD down and this is quite common. Keeping BP down and also weight is important, also good diet and most importantly not to smoke at all.

Just one other thing is that brain aneurysms are also a possiblility with PKD of which I've been found to have 4 which I must admit was a terrible shock but again I'm monitored by yearly MRI It's worth mentioning it when your daughter starts here screening.

If there's anything else you want to know please don't hesitate to ask but your daughter needs now to be monitored.

Kind Regards and please try not to worry

Andrea

[scaredmom in reply to tillymint16]

Thanks Andrea,

I am glad to hear you are doing well, everything I looked up online was very depressing and I was feeling like she is doomed right away. When you were diagnosed did you have cysts already? I am just wondering are they fast or slow growing or does it just depend on the strain which is why they want the genetic testing done.

Also with the aneurysms, how would she know, what happens and what should we watch for?

They keep reading different things on diet, do you think she should eat more gluten free or more of a vegan lifestyle. Its going to be hard to get her to understand that the eating will help in the long run.

Any suggestions you could give me for good and bad foods or supplements that have worked for you?

Rita

[tillymint16 in reply to scaredmom]

Hi Rita

Yes there's it's a lot of to take in at first. I had cysts when I was diagnosed I think but never did go on a special diet. Mainly the BP needs to be monitored and I have been on medication for many years. I'm not on any special diet and just eat healthily with very little processed food. Not smoking is very important also.

The main thing is not too much salt (sodium) a little sugar but steer clear of foods with high potassium (bananas in particular) also high phosphate foods (you can google those) also lean meats but not too much protein. Everything else as usual in moderation. I drink wine but again in moderation.

I had no symptoms of the situation in my head and only found out about the aneurysms through a routine MRI that was ordered by my kidney consultant (I only decided to seek one out when I retired in 2013!!) it was because my mum had a fatal brain hemorrhage when she was just 57. Her kidneys were in a much worse state than mine and she had end stage renel failure. This was all 30 years ago and they have come such a long way since then with screening and meds so try not to panic, there is every chance your daughter will be fine. It's a slow disease and has many good outcomes. As long as she's screened correctly as PKD also produces cysts in the liver of which I have some as well, but again I have no pain and kidney function eGFR is 57 which is very near normal.

You will learn as you go but nothing is going to fail soon if at all and it can all be managed quite simply. There are also different strains and she may only have it in a mild form.

Good luck with it all and again try. It to worry. Arm yourself with lots of correct information and try not to concentrate on scare stories on the internet as that is exactly what they are !! and there are so many people with PKD leading great normal and active lives

Kind Regards and again any questions I'm happy to help😌 We've all been there....

Andrea

[scaredmom in reply to tillymint16]

Thank you Andrea,

I really appreciate all the information, you have all been a big help to me. I guess one day at a time, and healthier eating for the whole family of mine is in the future.

We have a lot to take in but I really do feel better, so thank you so much.

I am sure I will have more questions, so watch out I may ask.

Thanks so much

Rita

[PKDC-Admin Partner in reply to scaredmom]

Dear Rita,

Healthy eating, reduced sodium (salt) and keeping hydrated is good for everyone.

But please don't restrict foods containing potassium and phosphate unless advised by a doctor.

We have just published an updated Diet and Lifestyle leaflet on the PKD Charity website pkdcharity.org.uk/about-adp...

If you need any other information or help, you can ring our helpline on 0300 111 1234. Leave a message if I'm not there.

Tess

[scaredmom in reply to PKDC-Admin]

Ok thanks, right now thats what I am trying to get her to do is less sodium and more water and just healthier foods than junk food. Thanks for the updated info I will take a look at it.

[123432]

I am 43 I was diagnosed 10 years ago when I went to A&e with a kidney infection like others no one else in my family have it (as far as I know). My health has been fine for the past 10 years just had a annual check, only this year my kidney function has started to dip jumped from stage one to 3. I still feel fine but doctors have told me to start considering live donars so I have started to have that difficult conversation with family. My brother and sister have both volunteered so we start matching test this year.

The main thing is not to panic the condition has slow progression, and if the worst does happen live donation is becoming more and more successful. Stay positive

Lisa

[scaredmom in reply to 123432]

Thank you Lisa,

Sorry that you have moved to stage 3 and I hope for all the best for you, can I ask when you were diagnosed did you have cysts already is that how found out? I am really trying to see if I can get an idea how quickly this will progress for her, like how fast they cysts grow. I don't understand why there is no cure for helping this with all the medicine out there.

I am trying not to panic but its hard, and I am trying not to let her see how scared I am for her, she seams to be taking it ok but I think she is not fully understanding this, and I don't want to scare her.

Thank you,

Rita

[123432 in reply to scaredmom]

When I was first diagnosed I already had a lot of cysts and my kidneys were already enlarged 19 & 20cm but my actual kidney function was fine. They only found out because I had a scan due to my kidney infection. I think people progress at different rates and it seems it not a straight downward progression you can have years or decades with no decline as in my case. When you first find out it feels like the end of the world but quickly life moves on an you don't really think about it. I only tend to think about it when I have an appointment coming up it hasn't dominated my life other than I think I tend to live for today and make the most of opportunities but then we all who do that anyway. My advice would be to get her to keep healthy and fit and not think about the condition

[scaredmom]

Thank you so much, with everyone's responses I am feeling a little better. I know we have a long road ahead and like you I just want her and I to not think about it everyday and live for today. We are going to see a nutritionist and get her on track. She likes to eat out with her friends and wants to live a normal life, but sounds like she just needs to learn what is good for her and be aware could help her in the long run.

I really appreciate the feedback, you are all making me relax a little

[Hidden]

We had it. We were then told we needed to have blood samples from aunts and uncles to predict passing pkd on which was the point of the exercise as my brother was getting married. We did however donate the samples to the pkd databank project so it can go towards much needed research. Neither of us will have children as the chance of passing on is too high for us. We both have pkd. Its a personal choice.