[Sue A]

Hi,
It seems ages since I have updated everyone with our progress. My husband has just come out of hospital after having a Bone Marrow Transplant and although there is still a long way to go, he is doing very well….I will keep you updated on his progress.
The last time I posted a message it was to say that I had arranged a meeting with our local GP to talk to him about the LFS diagnosis and what this means to our family. We took the leaflet that you did Pan, (thank you for that), and just wanted to have a discussion about the importance of early detection and early referrals. We also needed to be sure that it was put on my husbands and the kids records so that it would flag up any time they went for an appointment. Very dissappointingly, our Dr was not very receptive and was very dismissive of the whole thing. I dont feel that we managed to stress about the importance of early detection at all. We could hardly get a word in edgeways as he kept going off on a bit of a tangent, talking about anything but LFS. He really didnt want to listen to anything we had to say. We came away feeling very despondant and feeling very let down. However, we decided that as there are some really nice doctors at our surgery, we would do our best to avoids appointments with him altogether.
Since then, we had an appointment come through for all the kids to see a Dr at Birmingham Childrens Hospital, with regard to screening them for adrenocortical cancer annually. This referral came from our genetic consultant. We couldnt have had a more different experience this time. I went in and spoke to the Dr alone before the kids did, and gave her the leaflet on LFS, and also gave her the information on the screening programme done in America, showing the protocol for surveillance. She was really pleased that I’d brought this information for her, admitting that she knew very little about LFS, and was completly understanding that I was trying to push for as much screening as possible. She is now going to go away and do her own research and we’ll know more when we have our follow up appointment. We came away feeling very positive.
Our next appointment is on 18th June with Professor Maher at Birmingham. He is a professor of medical genetics…..we havent seen him before, does anyone know anything about him?….. I am also going to take the information relating to the clinical trial done in America and see if there is any other screening we can get……or if there is none, then how do we go about getting it? I am also going to ask about any trials being done in this country? Basically, I am going to knock on as many doors as it takes to get some surveillance for my kids.
If anybody else is having any luck with any form of screening, then I would be really interested to hear.
Thats all for now, I will let you know how it goes with Prof Maher.
Sue.

[Sue A]

Hi Pan,
I think the leaflet is a great idea. It’s exactly what I need for my initial meeting with our GP’s to inform them about LFS and the dangers of it to my family. Indeed, when I rang up to make an appointment, the doctor I spoke to had never heard of LFS. I have an appointment booked, but will only have 10-15 minutes to explain all about it (They would only give me a routine appt under my husbands name, not an actual meeting)….so the leaflet will be perfect, then they can go off and do their own research to clarify it. It stresses the urgency of quick referals which is what I need to get accross to my GPs. I do think that an endorsment of some sort from a doctor would be good and give added weight to the leaflet, but until then, I would be happy to use it. Is there any chance the finished product would be done by the 20th?!!! (Thats when my appt is).
Sue A

[Sue A]

Hi Verity,
I’m so sorry to hear about your brother and your son. I hope your son is doing well and will make a good recovery. I re-read my post and thought I sounded so pesimistic…..but we mustnt foget that my father in law who is positive has never been ill and he’s 70. Also, two female cousins are positive and they (44 +50) and they havent been ill.
I am going to ring our genetic consultant today and tell her that I would like abdominal ultrasounds for the kids and at least that will be one thing in action. The other tests you mention, did you get those arranged through your local GP or through your genetic Dr, or was it through the current Dr that is looking after your son? You also mention a LFS conference….where do I find out about these and can anyone go or is it just for the medical profession?
Thank you so much for replying, I felt real releif when I read your reply and not quite so alone to deal with this. Shared knowledge and experience is a wonderful thing.
Sue.

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