AML, TP53 and chromosome defects

Recent diagnosis
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Hi, my Mum was recently diagnosed with Acute Myeloid Leukaemia. We were told at the initial diagnosis meeting about the option of intensive chemo but were then just awaiting lung and heart scans.

When we returned, the scans were all good. She scored 0 on a health check which means she is extremely fit and healthy. Unfortunately they told us at this point that she has a TP53 gene mutation and more than 3 chromosome defects. We hadn’t even known this was being checked so that was a shock.

The result of this is that the chemo which we were previously told was curative, is now very unlikely to work. And if it does work, the Acute Myeloid Leukaemia is likely to return quickly.

She was given the option of still going for the treatment, with all it’s reduced chances and the added worry of how it will affect her.

Or just continuing with blood transfusions and letting nature take its course.

She asked, if she took this option, what the prognosis is and if she would be here at Christmas. The doctor said she would hope so.
But we would only be talking of months. But she would know she could make the most of these months.

She’s decided to take the chemo option. But she’s still struggling, as are we, with whether this is the right option…
What if she has chemo and it doesn’t work and she’s spent what precious little time she has in hospital?

I don’t really know what I expect anyone to say… I just want things back how they were before. It doesn’t feel real as she’s not even ill and wouldn’t have even gone to the Dr yet if it hadn’t been for a routine blood test that showed this up.

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Hi @Jupiter
So so sorry to hear that about your mum. I imagine you are all over the place, trying to get your head around things, especially as it sounds as if you were also hit with things you weren’t prepared for? I know you say you don’t know what you want people to say but I guess what you need is a bit of support? I have found this forum is a really safe place to vent emotions and more importantly to feel you are not alone. I haven’t actually used it yet but the helpline may be able to offer some support and answer the myriad of questions you probably have at the moment.
I can feel the emotion in your post and at the moment I guess, this is overwhelming. Please look after yourself. I’m sure others will post later, but sending virtual hugs.
Alex

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I’m really sorry to hear about your Mum’s diagnosis of Acute Myeloid Leukaemia and the difficult decisions you and your family are facing. It’s completely understandable to feel overwhelmed and unsure about the best course of action.

When it comes to treatment decisions, it’s important to have open and honest conversations with your Mum’s healthcare team. They can provide you with detailed information about the potential benefits, risks, and expected outcomes of the treatment options available. They will consider your Mum’s overall health, the specific characteristics of her disease, and any genetic mutations or chromosome defects in determining the most appropriate treatment approach.

While no one can predict the outcome with certainty, the healthcare team’s expertise and experience can guide you in making an informed decision. It’s essential to have a support system in place, including your healthcare team, family, and friends, to help you navigate through this challenging time.

It’s also completely normal to feel a range of emotions, including the desire for things to go back to how they were before. Remember that it’s okay to seek emotional support for yourself and your family, whether through counseling, support groups, or talking with loved ones.

Ultimately, the decision about treatment should be based on your Mum’s wishes, values, and personal goals. It may be helpful to encourage open and ongoing communication with her healthcare team, as well as discussing her thoughts, concerns, and hopes as she navigates this journey.

Take things one step at a time, lean on your support network, and remember to prioritize self-care during this challenging time.

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@Jupiter I am so glad that you have found it and your comprehensive post.
I cannot imagine how you are all feeling and thinking right now.
I think it helps me just to put fingers to keyboard or pen to paper sometimes.
I believe in writing down all my questions before medical appointments, no question is silly, it just really prepares me.
It is ultimately your Mum’s decision, but if you can be her sounding board, perhaps give her your views and just be her support.
You must all be in shock and yes, want things back as they were before.
Look after yourselves and be very kind to yourselves we are here for you and if you would like to talk to someone the Blood Cancer UK support line is there for you on 0808 2080 888
Please keep posting.

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Welcome @Georgelopez to our forum.
You gave @Jupiter a very comprehensive response, I look forward to hearing more about you.
Look after yourself.

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Hi @Jupiter and welcome to the forum. I’m really glad you posted and can see you have received some really supportive posts already.
I can only imagine how you all feel. I think you would have questioned either option - it’s such a difficult decision to make and not knowing what’s to come and how your mum will react and cope is hard - the unknown is always hard.
When a question pops in to your head make sure you wrote it down, and keep posting, we are all here for you X

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Hello.

Just wanted to reply as I am going through a similar situation with my mum. She has Acute myeloid leukaemia (AML) and TP53 mutation with 18% blasts she tried the intensive chemo but it didn’t work so doctors have offered this less intensive chemo called Aza & Venetoclax which she’s making the decision weather to start on Monday as it has helped some people get into remission even with that mutation so the doctors have hope they have also said it might not work but we’re all kind of thinking but what if it does and we could have a year or two more with mum.

It’s an extremely hard decision to be dealt with and totally understand your feelings as you the same as me just desperately want your mum to be here.

Just appreciate every single day with her and support her through whatever decision she makes and keep thinking of all those happy memories made over the years . I have always taken lots of pictures over the years as i believe they capture a memory you can go back to and think I’ll be so grateful I’ve got all them as some people aren’t so lucky to have a parent who means the world to them.

Hope your mum finds peace in whatever this journey holds and yourself.

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Hi everyone,

My dad was recently diagnosed with Acute Myeloid Leukaemia (Acute myeloid leukaemia ('AML')) with a TP53 mutation and at least 3 chromosome abnormalities. His bone marrow blasts are around 50%. He is 60 years old, and apart from feeling tired, his other organs (heart, lungs, etc.) are in ‘pristine’ condition.

The team are planning to start treatment with Venetoclax and Azacitidine, and we are still trying to process everything and understand what this diagnosis might mean.

I would really appreciate hearing from anyone who has had a similar diagnosis (TP53 Acute myeloid leukaemia ('AML') or complex cytogenetics) or whose family member has gone through Venetoclax + Azacitidine treatment. It would be really helpful to know:

  • Did the treatment lead to remission?

  • If remission was achieved, were you or your loved one able to go on to have a bone marrow transplant?

  • What was the longer-term outcome after treatment & the transplant?

Hearing about other people’s experiences would really mean a lot to us while we navigate this.

Thank you so much.

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Hi Jupiter,

I came across your post while searching for information because my dad has recently been diagnosed with Acute Myeloid Leukaemia as well. His situation sounds quite similar to what you described - he also has a TP53 mutation and multiple chromosome abnormalities.

Reading your post really resonated with me, especially the part about how sudden and unreal it all feels. We are currently at the stage where my dad is about to start treatment with Venetoclax and Azacitidine.

If you happen to see this and feel comfortable sharing, I just wondered how things turned out for your mum and what treatment she ended up having? It would really help to hear from someone who has been through something similar.

Best wishes.

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Hello @Georgia1234, welcome to the forum, though of course I’m sorry about your Dad’s diagnosis that brought you here.

I’m hoping other community members will share their own experiences but, in the meantime, we do have information about Venetoclax and Azacitidine as a treatment combination on our website, as well as more general information about AML and how prognosis is assessed, which might help frame some of the conversations you’re having with the team.

There are a few other threads on the forum from families in similar situations, including this recent one from someone whose partner is also starting Venetoclax and Azacitidine. You find other relevant threads by going to the ‘Related’ section at the bottom of this page.

Our Support Line is also there for you and your family if you need someone to talk to while you’re processing all of this, or have any questions for our blood cancer nurses: 0808 2080 888 (option 1) or support@bloodcancer.org.uk.

Take care,

Ceri - Blood Cancer UK Support Services

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