Hi,
I am a parent of a 13 yr old cystinuria patient (diagnosed at 6-lots of stones) been stone free for years but currently she is really not managing well emotionally and new stone found today.
How did you cope when first diagnosed if you were diagnosed as a child/teenager.
Does anyone know of any support or publications for teenagers with Cysinuria?
Thanks!!
Hi
I was aged 11 when first diagnosed but that was back in 64 when there wasn’t computers and google available at a touch of a button. This is manageable the hardest part is probably where you have to drink so much more than your friends and go to the loo more. Teenagers now are a lot different to when I grew up but it is possible to lead a normal life with this disease as I have. There have been blips along the way with stones. There is a cystinuria group on FB you might like to join what I find interesting from that is how differently people are treated with this disease it is certainly not the same all over the UK. I have been on penacillamine for 53 years and was lucky as have had no side effects. The biggest challenge is finding people to talk to that have experience of living with it you do feel initially there is no one to discuss things with. Also I have a sibling who doesn’t have cystinuria and you ask why me and not both of us. Feel free to ask any more questions but do look on the positive side this is manageable.
Thanks for your reply. You are spot on with how my daughter feels about her brother not having the condition 'why me?'
I will check out FB.
Woah firstly I’m so happy to hear from another parent, I’m a parent too looking after my 12 year old, I’m so sorry your all struggling at the moment. We are struggling to we haven’t had any stones(touch wood), but yes especially with the pandemic no help really health wise(we are in the UK)and appointments cancelled, he’s wanting to sleep more more so not talking Meds regularly or drinking, he also has Autisim & special education needs so that does not help.I do feel everything though especially in the UK is all aimed around adults too
Really nice to hear from you. Thanks for replying. I hope your son stays stone free.
Lockdown has definitely not helped with the routine and my daughter's mood. (mine too!).
Have you found anything written or on line for UK children with this condition. I feel hearing/reading something from someone who isn't the annoying parent might help.
No even when I’ve spoke to a few experts in London it’s always aimed at adults for example diet, for example getting him to eat a plant based diet, now that’s not happen he’s growing into a typical teenager & wants KFC, Mcdonslds! We do try to cook healthy meals(not processed)and I never add salt! What is yours like food wise are they on medication, sorry do you have a son or daughter? How did you find out they have the disease? So many questions, we found out as our son also has a chromosome duplication 🧬 on top on the Cystinuria gene
Hiya it's my daughter aged 13 now but diagnosed at 6 when she had very red urine (panic stations!) Found that a large stone had blocked her ureter and her kidney was enlarged due to this (permanent damage) she had an emergency nephrostomy and a stent and bag fitted then further stays in GOSH for the sound wave then laser then keyhole surgery. She was on antibiotics for several years and Tioprin (half tablets..stinky) and liquid potassium citrate. Now just on potassium citrate tablets (but the funding might not continue for this) .
Diet wise she only eats fish (has from birth) but the strict no crisps no salty foods is tricky now as she goes to secondary school and out with friends and makes her own choices.
I think the lapse in drinking and less sticking to diet has led to this new stone. I feel bad as a parent..feel like I should have been stricter but currently life is all conflict Mum v teen so not easy.
Phew that was a long post!
Gosh what a way to find out! My heart goes out to you & your daughter & anyone reading this going through this horrible illness. My sons at secondary now & I can’t control what he eats there, I dred him going back in September because they are now saying because of pandemic they will now have no water fountains open so I’ve emailed them to see how that’s going to work with him, did you shield your daughter?
I understand your concern about school. My daughter didn't go into school during lock down(she could have as I'm a keyworker-) and we generally were careful but didn't shield. Her secondary allow water bottles so the fountains aren't as much of a worry but the toilets will be year group marked so she may have to walk a long way to her years designated loos..anything that creates a barrier makes the drinking regime more tricky.
So good to discuss with another parent!
Where about’s in the UK are you? Have you found any other useful sites?
Oxfordshire. I've just joined a FB one ' kids and cystinuria ' and one on diet for cystinuria. Both international. Really varied stories I'm reading some people having so many stones and interventions others stone free. I wish there was a teen site so they could talk/support each other.
Aw lovely we have an Auntie in Wallingford, we are in North Yorkshire. Yes I have mentioned to Various professionals asking for more help with children as not much information out there & surely we must promote while they are young & again so many more sites in the States
Hi,
I am really interested in the comments as I have a 10 year old boy who is heading towards his teenage year quicker than I would like 😂.
We found out after a playground tumble led to him urinating blood (aged 8) 3 days later we found out that his left kidney was full of stone, 3 months after that being diagnosed with cystinuria and 3 months after that keyhole surgery to remove the stones. He was left with a 1cm Stone which was left alone. The last scan in January- no change, we missed the Easter scan to COVID and we had the results of the latest scan earlier on today and he has completely clear kidney. Totally over the moon!!!! He drinks really really well and takes his potassium citrate brilliantly......... but he is 10 and totally under our supervision. I am concerned as he get older how to keep him motivated to continue. His school has been amazing at letting him drink but he will be moving up to big school in a year and I guess it will get a lot harder............. if you do find out any info please pass it on x
Hi there,
Thanks for sharing your experience...sounds like it was a shocking time when he was first diagnosed . Where did you go for treatment? We were at Great Ormond St. Glad to hear your son is stone free (do you think he passed the stone?) I understand your worry about secondary school...ours have been good giving out a toilet pass so my daughter can go as often as needed (but she does feel self conscious using it). We went onto potassium citrate tablets and whilst they taste better than the liquid when taking the liquid my daughter was drowning a large glass of water to take away the taste which helped!
Will let know if I find any resources.
We are under the care of Alder Hey who have been fantastic and his big surgery was done at Sheffield children’s. We live in North Wales so we are use to travelling distances to get anywhere.
I guess he passed the stone, probably fragmented bits. He had 24hrs around Easter time of complaining of mild groin pain, apart from that no other symptoms. So your guess is as good as mine. I assumed the stone would stay the same size or get bigger. We are still learning as we are all new to this with no family history of stones. Just random throwback genes. I do like the sound of tablets as he gets older. Will ask about that next time. Thank you for replying x
The only thing with tablets is the funding is always in question and our consultant has to fill in a report every time we reorder..my worry is now my daughter has had the tablets going back to the liquid would be really hard cos of the taste🤢. We have no stone history in our family either..just a chance genetic thing!
Hi - not sure where you are based but if you don't know already then try to get her into the amazing stone unit at Guy's.
My first attack occurred when I was 17 but it took a few years to get a diagnosis and then more years of ineffective treatment from general urologists before I eventually got desperate and searched the early version of the internet and found Jonathan Glass who started the unit. They are all still wonderful people there and Kay Thomas/Matt Bultitude are real experts in managing the condition.
Their usual surgeries also combine scans, bloods, surgical consultation and dietician into a single clinic visit. When ops are needed they are experts at minimally invasive surgery.
I can understand the anxiety and maybe anger she is feeling but I think if she learns as much as possible about the disease from the experts then my experience was certainly that the anxiety just disappeared. It's never going to be a bundle of laughs but it is possible to feel back in control and confident that the support is there whenever needed.
Good Luck
Neil
Thanks for your reply Neil. She is under Great Ormond St and The JR in Oxford. Because she is only just 13 I feel ok with her being at a children's hospital for now but I have heard so many positive things about Guys that I realise I need to research that option. I think feeling in control is important as you say. Thanks again.
