How to wait for results for rare disease for DC's. Its breaking me apart.

[Humpdebump]

DS (3) had a benign lump removed from his body. However, the benign lump is an indicator of a rare genetic disorder. This disorder (Gardner's Syndrome) has no cure and carries a high risk of cancer. Mostly the treatment involves removal of various intestines throughout life and hopefully each intestine is removed before they become infected with cancerous cells as it appears treating it with chemo has had little effect. Unfortunately it is inherited and theres a 50% chance our other 3 children have it...plus myself or my partner :(
I am waiting to hear back from the hospital about genetic researching and further probing. I am devastated, all of us look and are generally healthy people. When I heard this news the consultant told me not to look on the internet, but she didn't have any info about the disease as its rare and she needed to speak to her team first. So of course I had to look on the internet! Which is where I have learnt all the info so far about it as I don't think consultant wanted to discuss any more until they know what procedure is next.
I am (usually) a rational person and without sounding hopeless about the situation, from what I have read there is no good outcome apart from managing the condition throughout life but it will get you in the end.
How long will I have to wait for this genetic testing to start? Consultant said a scheduled 6 month appt will be sent to me but I will prob hear from her before that! I have booked an appt with my local GP to see if I need to start the ball rolling for testing for my other children as I just have no idea how these things work. Also, does anyone have any info about 2nd opinions - for getting histology to check the lump again? I have stopped looking online as its just depressing. But I cannot stop thinking about it. If I'm in the same room as my children I'm ok but as soon as I go to the loo, or go and do the washing up....anything on my own, I am finding myself in tears. I wake up and its the first thing I think about. I can't eat, am shaky and I feel I am on the verge of tears all the time.

Read your post. Can't answer any of your questions I'm afraid, wish I could but just wanted to send hugs. Can't imagine how awful this must be for you

Its awful alright. Just last week I was online wondering what winter boots I should buy. Now it just seems such a daft thing to be pondering about. I can't seem to find joy in anything at all. I think I'm going to get out of the house with the kids now as staying in today doesn't seem to be helping me at all. Its cold and raining but I just don't care.

Gosh you poor thing. How awful. Not surprised you are in bits. And it sounds like a bit of a wait for further info. I have no advice but a handhold and hope someone can be along to advise soon.

So, DOES your 3 yo have this condition? Or MAY he have it? Sorry to be dense.

It's awful to have to wait for certainty and my heart goes out to you. You will have to try your v hardest to 'stay in the moment' and not get too far ahead of yourself with the 'what ifs'. Easier said than done, I know.

Here's another question: do either you or your DS's father have Gardener's?

This is an autosomal dominant genetic disorder which means one of the parents has to have it to pass it on to a child.

Was your DS's lump a 'desmoid' tumour?
These can (and often do) occur in isolation and don't necessarily mean he has Gardner's.
Also re genetic testing: your DS may require a karyotype to be done - preliminary results take a few days, culture a few weeks.

I know (personally and professionally) how had it is to wait for genetic result, but I don't see why it should take 6 months to find out.

What an awful time for you. Have any of your or your partner's family had any kind of cancer, particularly colon cancer? It seems hard to believe that there would be no history of this in your families.

You say it's an indicator - that doesn't necessarily mean your little boy has it, does it?

Hi, no my DS has not been officially diagnosed with it - the lump removed was a 'gardner's fibroma'. Because of this they are talking of using a camera to check for polyps in the gut as they often occur together. If they find polyps in the gut then this combined with the fibroma is called Gardners Syndrome. From what I've read the polyps do form if you have a gardners fibroma, its just a matter of when - they could be forming now or they might not form until he's in his teens. Once they start forming is when they can turn cancerous. (At least this is what I understand from reading many papers on it).
Yes Pacific - most stuff I've read has described it as hereditary, however there are a few cases where they have found no link and it has just popped up. Actually the more digging I did on this the more cases I found without a hereditary link.

No, neither me or my partner have this, however it can be diagnosed late. There are 2 cases of colon/bowel cancer on his side of the family.
I am trying to stay in the moment but I also thought it was important to read a bit about it and not bury my head in the sand as I would rather be shocked now and something positive turn up. Plus with the possibility of the other DC's having it I thought I need to be aware - one of my DC's is always constipated and this is on my mind now hence the reason why I've booked docs appointment for him.

I can only image in how scary and worrying this whole thing must be

I am sure you will have seen this - Wikipedia. I know, I know… Anyway, the genetic test should be straightforward enough, I'd've though. Disclaimer: I am not an expert.

"Gardner fibroma (GAF) is a benign soft tissue lesion with a predilection for childhood and adolescence and an association with familial adenomatous polyposis (FAP) and desmoid type fibromatosis (demoed)."
from here
The important bit here is the use of 'associated with' rather than 'prove of'.

I think your DS's doctors are dotting all the Is and crossing all the Ts tbh. Which is a Good Thing (albeit frightening and no doubt you'll be worried until anybody can give you any kind of certainty. Which in medicine there often isn't, I'm afraid).

I suppose what I am trying to say is think of your DS as the same as he was before you got the histology and possible implication of this diagnosis. He is not different than he was before. Nor are your other children. Try to live your life as you did before.

Again, I know easier said than done.
Childhood constipation is so very common - colonic transit time is also a genetically determined feature and some kids/adults will forever be 'slower' than others, no matter what they do.

Wishing you nothing but the best

Oh ffs, proof

Thanks Pacific. I'll be concentrating/clinging on the phrase 'associated with' from now on. I wish I knew how long I need to wait for these tests.