Radiotherapy effective?

To dear Elizabeth,
I’m so so deeply sorry too to hear about your mum. You must be feeling shocked and devastated. I hope you have the love and warmth of all your family and friends around you right now to comfort you. You are in our thoughts.
Wendy

Dear Elizabeth,

You have my greatest sympathy. I am so sorry you are having to go through all of this. I know too well how hard it is, especially when it goes this quickly. It just blindsides you. Before you can even adjust to what is going on it is all over. We just have to be glad that our loved ones did not have to fight & suffer from this awful disease for very long. Your Mum no longer has to endure the pain & suffering. She is at peace and will be with you forever in your heart & memories. My thoughts and prayers are with you & your family. Take care Elizabeth and know that we are all here to help and support you as you grieve.

Love & Hugs,
Darla

Dear Elizabeth, our heartfelt sympathies go out to you. Your mum is now at peace and perhaps it was a better thing that her passing happened the way it did. She passed when she was ready, with dignity and knowing she was so very loved. Our prayers go out to you and your family.

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

Hi Elizabeth

My mum was diagnosed April, and her CC is also not operable nor radiation possible. We even pursued microwave ablation for her (being done at Leicester and Bath Hospitals for mainly liver cancers) but because of the siting of the cancer in the bile duct, close to main hepatic arteries the consultant said it is too dangerous a procedure for CC patients.

Gavin’s dad seems to have had great success with PDT which is just great, but again, it seems this is only offered at major specialist centres and not offered to my mum who is cared for by ‘quiet backwater’ NHS trust.

The doctors have discussed statistics about chemo and the upshot is that they don’t think my mum will necessarily benefit from chemo. However, she visited Park Attwood Clinic today (http://www.parkattwood.org) and is seriously considering Mistletoe treatment. For her, they have suggested an intensive treatment of injections over 10 days where they will induce fever like symptoms 3 times to stimulate her own immunity which in turn will ‘fight’ the CC. They said she will spend 3 days out of the 10 feeling really rotten (ie, like real flu with shivers, etc) but seem to think she will tolerate it well (even though she is v. v. weak at the moment) and can stop it at any time. Her oncologist had not heard of other CC patients using this therapy – but was keen for her to try if she is willing. This treatment also seems to be less invasive than chemo and from what I’ve read has a better chance of making her feel better/stronger afterwards. They have said it is not a cure but will improve her quality of life….. and who knows if it will extend it? So my mum is making the decision now about whether to proceed – the initial cost for 10 days treatment is around

Elizabeth… as Darla has mentioned we have several other members from the UK. Where is your Mom residing?
Marion