hughesdewy

Hi Julia

I’m too glad you’re sounding more positive now, living for the day, and hope your sister manages to get home from hospital soon and get back to some semblance of ‘normality’. I hope you manage to have some fun and laughter together, and that you are able to put aside any worry or fear. Despite the horrible set back it sounds like your sister is still in good hands – and hopefully they can help with her decision making about what to do next.

Take care, you are in my thoughts.
Wendy

Sandy,

CC is such a horrible wake up call – it’s sneaky and cruel and catches you unawares. My heart really goes out to you and your brother and his fiance. It doesn’t seem long ago that I was just where you are now, around April this year when my mum was first diagnosed with what is thought to be ‘later stages of cc’.
My mum was in terrible condition just after her diagnosis it was ‘touch and go’ – she spent weeks in hospital with one procedure after another – it nearly destroyed us to see her like that as she has always been a fit and energetic person. She was given anti-ametics which helped control the vomiting and loss of appetite and she became so thin. I have read here that taking fluids off will help relieve pressure and improve problems with nausea so I hope that helps with your brother. At one point, my mum couldn’t even keep down water (even with anti nausea tablets) which was a huge concern and she was eventually put on IVs. Controlling the bilirubin and calcium/potassium balance in her blood, giving her tonnes of fluids seemed to help her and the metal stent was the best thing to alleviate the horrible symptoms of jaundice and has seemingly prolonged her life… I never imagined it possible at the time, but she did rally round, and even began to feel a little like her old self again…. positive thinking has given her back her fight, practically she is prepared: but mentally she is not ready to die yet!
My best advice is remain strong, keep positive and optimistic for your brother, while staying informed on his behalf about procedures and treatments. The lack of eating and general feeling of awfulness (plus the high calcium in her body) made her slightly confused sometimes as well as dealing with the shock – she was overwhelmed by the whole thing. We helped guide her through by reading this website and also found PubMed useful. Thank heavens for internet! We have also been very practical for my mum, helping to get her finances in order, planning for the end of her life, saying the all the things we want to say (and having no regrets) and above all, being with her and supporting her in her choices … Doing these things has helped her get back control of her life..and given her a clear mind to fight for her life. Good luck Sandy, you are doing everything just right.

Pippa – I feel so sad that your experience of CC was so dreadful – it could so easily have been my own. From what I know about grief, it comes in many forms – and sadly there is nowhere to hide. I guess shelving it for now is just another way of trying to cope with the shock. Do take care of yourself and your mum and I hope you can find this site useful to talk to others and perhaps one day, and when you are both ready, to find ways to talk about with your mum.

Wendyx

Hi Julia,

I really hope that your sister’s health improves, and that she is one of the lucky ones who fights this condition. Remember, she is probably in the best place right now to make a speedy recovery with some keen academics on her side. I will keep everything crossed for your sister.

Take good care of yourself too – your sister is very lucky to have you looking after her so beautifully.

Wendy, UK

Hi Marion,
Yes, the ethical protocols are similar in both Europe and US. We are looking to set our registry up in Europe first and then roll out to other countries and I know that legal/governance and ethical requirements are almost identical between US/Europe/Australia so it should roll out quite smoothly.
The patient registry we are setting up (I am cofounder of the charity organising this) is a self-reported registry. It was felt that, for a number of reasons, it was better for us to collate information this way – largely because it is patient-initiated and therefore more straightforward. We have been working with a registry co-ordinator (in other words a highly regarded researcher and clinician in the field of congenital neuromuscular disease) to establish the content of our registry, and we have been collaborating with his global peers to decide on the type of information that will be useful to help further research. Any contact between researcher and patient will be managed by a registry curator to protect patient identify and patient always has full control of data (managing it themselves online). The data we collect will (with full patient consent) be anonymised and passed onto interested researchers (after they have obtained research ethical approval) and be used to identify patients suitable for certain clinical trials (when they become available for our condition). The registy is governed by a steering committee (scientific advisory board) and other legal committees. The registry will help identify the prevalence of the condition and help to provide standards of care. We are hoping to include a function where researchers can design their own further questionnaire to send out to selected patients to help with their research. For our condition there are only a handful of molecular diagnostic testing centres globally, mainly based in europe, so there are some clinical databases in existence but these do not hold full or necessarily up to date information. We are arranging to harmonize our self-reported registry with these genetic databases (with patient consent). Preparing the patient registry has, I admit been a huge and quite complicated process, and has involved the input of several researchers to define what type of information is required and is useful for their research, but we hope to launch later this year in Europe and then roll out to other countries with the help of curators (ie interested research academics/legal institutions) in those countries. How the registry works is: the patients (or their representatives/guardians) will register themselves online (or offline) with personal data and then answer some 20 mandatory and some further highly encouraged questions. They will then sign a consent form requesting genetic information and some medical information to be released from their clinician which will be sent directly to the registry curator who will include this information on the registry. Once this information is received the data becomes ‘live’ and can be used for research or identifying patients for clinical trials. The patient/representative will be encouraged to update information annually through reminders, and equally any new information about the condition (such as standards of care) will be fed back to the patient. (The patient registry has to have a benefit for the patient). Due to the high morbidity of our particular condition, we are encouraging information from both deceased and living patients. If you are interested further, then let me know and I will pass on more info, and be pleased to share our experience of setting up a registry. We decided to do this ourselves and as the only supporting charity for the disease, to accelerate the pace of research and treatment into the disease which, as a rarer condition, has no public funding invested in it. Also because it is a patient led registry, it makes more sense that it comes from the charity. I guess this could work similarly well for CC – the condition which my mother suffers from. Please email me privately if you wish to have any further info or look in the research section of our own website (which is the process of being redesigned!)…www.myotubulartrust.org
Best wishes
Wendy
wendyhughes@myotubulartrust.org

To dear Danielle,
I’m so very sad and sorry to learn that you have lost your darling soul-mate Jim. What a brave battle you have both fought, and to me it sounds like you couldn’t have done anything more to help him – but you must be so completely heartbroken. Sending you my deepest sympathy and my thoughts will be with you over the difficult days ahead. I hope you are able to find some peace and comfort in friends and family, and in remembering happier times together.
Wendy

Hi Tia,

I’m so sorry to here about your mum too – I know how desperately sad that feels. My mum was diagnosed in April this year, and too had high calcium and low potassium levels, which they have managed to balance out by potassium and something else – Vit K i think, via saline drip. She hasn’t had a PET scan yet, but from all the screening she’s had done (x-ray/ultrasound/keyhole/CT) they seem to think that the tumor is contained and has not spread beyond the biliary duct/s. She’s having a bone scan and parathyroid scan today, and we are reasonably confident that there are no secondaries, but will have to see. She is being recommended for surgery and chemo once she is medically stable, and her cancer hasn’t been graded yet because my mum’s is not the specialist hospital – she will have to travel to another hospital for that and surgery – but they are taking advice from the specialist hospital.

She also has to drink a potassium mixture which she says is pretty revolting, but it does the trick to reduce calcium and raise potassium. It seems that there is an imbalance with these two minerals in the blood for many cancers, not just cholangiocarcinoma.

However, my mum has suffered parathyroid problems for years (not cancerous though), and has had elevated calcium in her blood for years, it just got thrown way out of balance when she got the jaundice (and was diagnosed with cholangiocarcinoma in May). The doctors did say that the high calcium levels are debilitating (as is her jaundice) and will make her feel very lethargic and nauseus. She has eaten very little, and doesn’t have any appetite for food or drink, but has started to enjoy nutritional fruit drinks (the milkshakes make her feel sick). I read that it is vital to increase vitamins as certainly with jaundice it is difficult for the body to absorb through food. She is also taking tablets to reduce the nausea, but it’s still a problem with her food (esp hospital food!) and she eats like a bird and has dropped 2 dress sizes in as many months – but the drinks are helping to minimize that now. She has suffered from high blood pressure for a number of years, and ironically has suffered from very low blood pressure over the past 2 weeks – again remedied by sorting out calcium and potassium levels in the blood and by her drinking large volumes of water and having saline IVs. She literally had to drink a glass of water every hour. This really helped with everything and it could be that your mum is dehydrated?

I’m sure they will get your mum stable and under control. My mum had a metal stent fitted just last Thursday (after 2 plastic ones didn’t work to clear the jaundice) and it was hoped she could come home from hospital for the first time in over a month, today. But I heard this morning that she has high temperature, so seems it is probably infected, so it may be a few more days yet before she can get home… we live in hope.

I don’t know much about the course of this condition … but one thing I have learnt over the past few weeks is that the doctors are actually on our side, they do want to get my mum better and discharge her from hospital and they are working so hard on our behalf (although at times it did seem that they didn’t really know what they were doing). I guess it takes a bit more brainpower and searching for solutions, because it’s not common condition and it does seem to be different for everyone about how you are affected, and the course.

I hope and pray, that your mum will begin to recover soon and life can get back to some semblance of normality for you all.

Do take care and you are very much in thought..

Wishing you strength, courage and hope,
Wendy