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Old Wed Oct 23, 2013, 12:27 PM
RosP RosP is offline
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Question 16 year old daughter with PNH and AA

In early June my daughter had a full blood count test due to extreme tiredness, bruising and night sweats. We recently discovered that she has PNH. For a few months her consultant has waivered between AA and MDS, as her Platelet count is 12 - 20, haemoglobin averages 10 and wbc averages 1.8, with neutrophils 0.8 - 1.1. Recent tests have identified a likely genetic mutation and her consultant is now almost positive that the disease is AA. Over the last few months she has had weekly platelet transfusions but these have been stopped for now and her counts remain stable as above. The medical team are 'watching and waiting', however they cannot explain the extreme fatigue that she suffers. I wonder if any of you can help me with this and advise any treatment that has worked for you, with similar counts. We are waiting to find out if either of her sisters can be a stem cell match, though transplant is not certain as a treatment plan yet. It breaks my heart to see my 16 year old daughter struggling to complete school work for her important exam year, unable to join in sports and activities and having no energy to enjoy life. She is currently at school 3-4 days each week and this is draining her. Any ideas???
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Old Wed Oct 23, 2013, 04:37 PM
Hopeful Hopeful is offline
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Hi RosP,

I'm sorry that you both have to go through this. My counts were fairly similar to your daughter's when I was first diagnosed. The low HGB is one contributing factor to her fatigue. Although an HGB of 10 doesn't seem that far from normal, I remember the huge difference in my energy level and initiative when at that level. I think that low platelets also play a part in the fatigue, although physiologically I can't explain why. I just remember feeling more energetic (relatively) after platelet transfusions. It could be because the marrow is constantly in overdrive trying to crank out blood cells. It's exhausting! I remember sleeping 13 hours and waking up exhausted.

What genetic abnormality does your daughter have (Fanconi, Diamond-Black Fan, DC, etc.)? It is good that they are taking the time to do these extra tests, although waiting for a definitive diagnosis is tough! If she does go to transplant, the conditioning regimen is very different for Fanconi's (for example) than acquired-AA. Also, it is important to test her siblings to ensure that they don't also have the mutation.

It is hard to think quickly and clearly when your HGB is low. Can you formally pull your daughter out of school for the year to reduce stress, promote healing, and allow for needed rest? The work will be a lot easier when she has more oxygen to her brain! Colleges will understand. Make sure she stays social and active and pursues her passions (albeit less rigorously) to maintain a good mental attitude.
__________________
52 yo female, dx 9/08, AA/hypo-MDS, subclinical PNH, ATG/CsA 12/08, partial response. Tried slow cyclosporine taper over 4+ years. Platelets fell, so back on cyclosporine. Trisomy 6 clone in 5% of cells.
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Old Sat Oct 26, 2013, 09:40 AM
RosP RosP is offline
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Thanks so much for your response, Hopeful. She also finds that she has more energy after a transfusion, though the doctor can't explain it - I think your explanation does sound logical. I should know the exact genetic mutation next week when final test results come in, so I'll post it then. Glad you are so upbeat and positive. Its great to have a role model for Bethany.
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