Paediatric MDS & Monsosomy 7 caused by a GATA2 gene mutation

MDS can affect children in some very rare cases. Please post here if you are a parent of a child with MDS.

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mumoffour
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Paediatric MDS & Monsosomy 7 caused by a GATA2 gene mutation

Post by mumoffour » 03 Dec 2013 18:38

My 15 year old daughter was diagnosed with paediatric MDS (RCMD) with monosomy 7 in April'13 after 3 months of monitoring of her bloods because she was severely neutrapenic (averaging 0.3) as well as a low platelet count (approx 88) and a moderately low hemoglobin as well as some other haematological abnormalities. A bone marrow biopsy was done end March '13 but we were reassured by the consultant that this was only to put everyone's mind at rest as they were 99% sure they weren't going to find anything sinister. :roll: Subsequent gene sequencing showed that her MDS was caused by a GATA2 gene mutation so my husband and I had genetic testing but thankfully we were clear. My daughter had a bone marrow transplant in August and her brother was her donor as he was a 10/10 match. Post transplant she developed acute GVHD which was graded 2/3 in severity. Thankfully it responded to high dose steroids and she was also given three doses of methotrexate at weekly intervals and MMF was added to her ciclosporin and she's still on both of those but came off her oral pred 2 weeks ago. Then she developed what she would consider the worst part of the whole experience - hemorrhagic cystitis caused by BK polyoma virus. At one stage she was going to the toilet every 20 minutes around the clock. A bladder catheter was inserted but the spasms were so severe that her bladder ejected the catheter with the balloon fully inflated. When she had recovered from this awful opportunistic infection the consultant informed me that he thought she was relapsing as her platelets had been sitting at 150 in September but were now incrementally falling and had reached 47. Thankfully a bone marrow biopsy showed no evidence of disease and eventually her platelets started to rise again. :D Then she developed a blood clot and now she has subcutaneous injections of anti-coagulants every day. After 16 weeks away we finally made it back home again.
My daughter's bloods have improved a lot since she got home - platelets 143, haemoglobin 93, lymphocytes 0.6, her neutraphils have been fine since September so I pay no heed to them. :D The hair on her head is as yet not visible to the naked eye although unfortunately the facial hair caused by the ciclosporin is. :shock: She's also very tired and has difficulty sleeping and is still struggling with semi isolation as she's not allowed to return to school or to frequent crowded places like cinemas or shopping centres - the usual haunts of youngsters her age. Incidentally, when my daughter was having her BMT there were two other, much younger children, also being transplanted for MDS at the same time. The medical care she received was excellent, her consultant was amazing for the wealth of knowledge he possessed and his dedication to research, his bedside manner was also excellent & his explanations were comprehensive . We were also blessed that much of my daughter's convalescence was spent on a purpose built adolescence unit. :)
chris
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Re: Paediatric MDS & Monsosomy 7 caused by a GATA2 gene muta

Post by chris » 04 Dec 2013 12:10

Dear Mumoffour

Goodness. You and your family have really been through it this year. It is hard enough getting a diagnosis of MDS in later life but to get it as a child is devastating. The bone marrow transplant and subsequent infections must have been very dificult to endure and your daughter has been through such a lot of discomfort at such a young age. Thank goodness her brother was a full match as that has the best outcomes for a transplant and it's looking like it has worked, given the improved blood counts. Hopefully, she will gradually be able to start going out again but she probably has to be careful for a while. A young man at my hairdressers had a transplant in his late teens because of Aplastic Anaemia but he is now well and back at work - a couple of years down the line. Hopefully, she will be eventually weaned off the ciclosporin as the side effect of facial hair growth is probably very distressing to her.

Glad to hear you had such a good experience of the care. Did she have the transplant at King's? I think they have performed the highest number in the UK so there is a lot of expertise there?

Hope the next few months go well and you are all soon able to get back to a more normal life.

Best wishes

Chris
Chris. (F) Age 69 (2019). MDS diagnosed in 2008. Sub-type CMML-1 but with anomalies! Normal-ish red cells, low white cells and platelets, slightly raised monocytes. Enlarged spleen. No current treatment - active monitoring 3-
monthly.SE Essex
mumoffour
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Re: Paediatric MDS & Monsosomy 7 caused by a GATA2 gene muta

Post by mumoffour » 04 Dec 2013 15:05

Thanks for your lovely reply Chris. She had her transplant at Bristol Children's Hospital, a wonderful place, and we also had accommodation at a lovely Clic Sargent Home from Home. Her follow up care is now at the Belfast City Hospital. We're very well looked after there but it's a 140 mile round trip from home for her weekly appointments.The ciclosporin also gives her a tremor (her hand shakes) and affects her memory. It's good to hear about the young man at your hairdressers thanks, we saw a lot of very ill children and young people in Bristol :( I forgot to mention that my daughter had her eggs harvested prior to her transplant (and prior to the discovery of the GATA2 gene mutation). The geneticist says that when she needs her eggs she will need to go to Guy's Hospital in London for pre-implantation genetic diagnosis. :roll: In the meantime I'm just grateful for a health service that has provided wonderfully for my daughter - she has seen both adult & pediatric hematologists, a geneticist, anaesthetists, cardiologists,dermatologists, rheumatologist, urologists, a psychiatrist, physiotherapists, an occupational therapist, dieticians, radiologists, nurse specialists, a social worker and other professionals I can't recall. I reckon that all the taxes I have paid in 30 years working wouldn't cover a fraction of it. :shock:
Mum to Leah who was diagnosed in April'13 with MDS & Monosomy 7 caused by a GATA2 genetic mutation, aged 15 years. Sadly Leah died of transplant related complications in the N. Ireland Children's Hospice January '14 . :cry:
chris
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Re: Paediatric MDS & Monsosomy 7 caused by a GATA2 gene muta

Post by chris » 04 Dec 2013 17:02

That all sounds so supportive. What a great set up they have in Bristol. You are right. We are so, so lucky to have such wonderful service provided free at point of delivery. I "met" a young South African girl on this forum and the cost of her care and transplants there has been crippling, necessitating huge fundraising efforts by her friends and family. Political point I know but that's why we do have to fight to stop privatisation by stealth of the NHS because otherwise there will be huge numbers of people who will be denied treatment they need.

The travelling to appointments must be so hard. You must be dreading bad weather?

All the harvesting of eggs and future genetic testing etc must seem so "huge" for a 15-year-old but it's great that the medical team has considered all the possibilities. Hope the burden of appointments soon starts to diminish so you can get back to a more normal life with your family.

Best wishes

Chris
Chris. (F) Age 69 (2019). MDS diagnosed in 2008. Sub-type CMML-1 but with anomalies! Normal-ish red cells, low white cells and platelets, slightly raised monocytes. Enlarged spleen. No current treatment - active monitoring 3-
monthly.SE Essex
mumoffour
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Re: Paediatric MDS & Monsosomy 7 caused by a GATA2 gene muta

Post by mumoffour » 04 Dec 2013 17:53

Thanks Chris, everything you say in your post is true but right now I'm just living from day to day and can't see too far ahead - the journey back to normality for my daughter and for us as a family has many twists and turns. The turn-of-the-century cottage we owned at the time of my daughter's diagnosis had a long standing problem with mould and damp so she couldn't live there post transplant so we're in the middle of a house move also. :?
They perform bone marrow transplants in Belfast and that would, of course, have been a much cheaper option - I'm just so grateful that our consultant recognized that my daughter's chances would be greatly improved if she were referred to a Centre of Excellence and that our local Health Trust were prepared to pay the many extra thousands that it would have cost to send us to Bristol. :) I work in the NHS and I am very aware of cutbacks but I have seen little evidence of cutbacks in the high standard of care my daughter has received both in Bristol and in N.I. I'm not saying that those cutbacks aren't there, I'm just saying that through my daughter's illness I've seen an overwhelmingly positive side of the NHS.
It hasn't all been sunshine and roses and there have been times when, for one reason or another, I have been dissatisfied with some procedure or policy or arrangement but when, as my daughter's advocate, I have made my views clearly known in an appropriate manner, I have always felt listened to and a concerted effort has been made to make things better. This is particularly true here in N.I. where there are no adolescent units and where my daughter receives all her care within the adult hematology/oncology services and this started in January '13, a couple of weeks after her 15th birthday. :roll: As far as I know the guidelines in England are different and young people don't usually enter adult hematology/oncology services until they turn 18. Thankfully since June we have a Clic Sargent SW and a TYA Nurse Specialist (Teenage and Young Adult) who offer us fantastic support. Another advantage for me of my daughter being treated in Bristol was that I got to meet & form relationships with other parents of children having chemotherapy or transplants - because we are in the adult services here I never meet other parents - most of the other patients we meet are older than me! The peer support in Bristol for me was great but my poor daughter spent a lot of her time isolated. Anyway it's onwards and upwards now :)
Mum to Leah who was diagnosed in April'13 with MDS & Monosomy 7 caused by a GATA2 genetic mutation, aged 15 years. Sadly Leah died of transplant related complications in the N. Ireland Children's Hospice January '14 . :cry:
mumoffour
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Re: Paediatric MDS & Monsosomy 7 caused by a GATA2 gene muta

Post by mumoffour » 14 Dec 2013 12:36

135 days post BMT
My daughter’s platelets yesterday were 143 and her haemoglobin 92. Her Hb was between 115 and 120 from mid-September onwards and only started to drop in November when her platelets started to rise. :? Her liver function tests continue to go up and down a bit. She’s been off steroids for three weeks now with no flare up of GVHD which is great news :) so her MMF immunosuppressant has now been reduced – we love it when we see medication being reduced as she’s on lorry loads of stuff. Although her Hb is now lower than at any stage prior to her transplant her consultant here says that overall and taking all things into consideration he’s very happy with her progress. :) Before we left Bristol we were told that if my daughter’s counts didn’t normalise within a reasonable time frame (whatever that is) then they can give her a “CD34 selection top-up”. This I think would entail, me and my 14 year old son and my daughter spending approximately a week in Bristol. My poor son would have to have injections & blood tests every day for several days before the harvest. :shock: For my daughter it would be as simple as a blood transfusion with no side effects. :) They can do “top-ups” in Belfast but they can’t “select” and a selected top-up is safer for her. My family really want to return to a semblance of normality so I hope and pray this won’t be necessary however I am very reassured that this “Plan B” exists. My daughter also has quite severe back pain and an x-ray of her thoracic spine showed a fragility fracture of one of the small bones of the vertebrae between T6 & T8. :( She has never fallen or had an accident so I am relieved that her haematologist has referred her to orthopaedics for investigation. Her oncology physiotherapist has also referred her to a muscular-skeletal physiotherapist and her oncology occupational therapist has referred her to the community paediatric O.T. to see if any aids and adaptations would make her life easier as right now I have to help her quite a bit. The road back to normality has many twists and turns but our consultant is not known for giving false hope (his bluntness has at times past left me almost unable to breathe) and he is currently very positive and reassuring so we will take our cue from him and we continue also to pray & trust God for my daughter’s full recovery. :)
Mum to Leah who was diagnosed in April'13 with MDS & Monosomy 7 caused by a GATA2 genetic mutation, aged 15 years. Sadly Leah died of transplant related complications in the N. Ireland Children's Hospice January '14 . :cry:
chris
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Re: Paediatric MDS & Monsosomy 7 caused by a GATA2 gene muta

Post by chris » 17 Dec 2013 18:37

Hi there.

It all sounds as though it's going in the right direction and hope that gradually your daughter can safely come off all the medication. That aspect of the treatment would really freak me out being the sort of person who prevaricates about taking a single paracetamol -but it is very necessary to prevent the GvHD.

Must be hard for you as a mother to see 2 children suffering too - let's hope the top-up is not needed! Sorry to hear about her back problems. Jayne Snell (see posts) has also suffered with terrible hip and leg pains following STC but hers seems to be wasted muscle problems caused by the relative inactivity post transplant. Hoping that the referrals and physio can help.

Have you managed to move house yet? All this is very stressful! Understatement!! Hope you all manage to have a happy Christmas together.

Best wishes

Chris
Chris. (F) Age 69 (2019). MDS diagnosed in 2008. Sub-type CMML-1 but with anomalies! Normal-ish red cells, low white cells and platelets, slightly raised monocytes. Enlarged spleen. No current treatment - active monitoring 3-
monthly.SE Essex
mumoffour
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Re: Paediatric MDS & Monsosomy 7 caused by a GATA2 gene muta

Post by mumoffour » 28 Dec 2013 17:35

My daughter became a bit short of breath climbing the stairs on Thursday but had no temperature and was in good form. We had a routine hospital appointment yesterday (Friday) and they did a chest X-ray and CT scan which were very abnormal and she was admitted to hospital. She is now very ill in intensive care with pneumocystis pneumonia - yet another post transplant complication. :cry:
Mum to Leah who was diagnosed in April'13 with MDS & Monosomy 7 caused by a GATA2 genetic mutation, aged 15 years. Sadly Leah died of transplant related complications in the N. Ireland Children's Hospice January '14 . :cry:
MollyP
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Re: Paediatric MDS & Monsosomy 7 caused by a GATA2 gene muta

Post by MollyP » 28 Dec 2013 18:10

I am very sorry to hear this news. This is the last thing you need. I am thinking of you all at this difficult time.
Big hugs
Molly
Xxxxxxx
*** *** *** ***
69 yrs hubby - CMML 1 dx Feb 2013
raised Monocytes was watch and wait
Nov 13 hydroxycarbamide.
Jan 14 blood OK back on w&w
Jan 19 disease advancement to CMML-F (fibrosis)
mumoffour
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Re: Paediatric MDS & Monsosomy 7 caused by a GATA2 gene muta

Post by mumoffour » 29 Dec 2013 12:45

Thanks Molly. My daughter's breathing is a little bit easier since this morning & her blood oxygen levels are a little more stable which is great although she is of course still seriously ill. The doctor told me yesterday that she may not survive but there are many churches and individuals praying for her & we are hopeful. Heard today from the Dr that the CT scan of her lungs on Friday showed that she has a wedge compression fracture of her spine between T6 & T8 - NOT a "tiny fracture of one of the small bones" as was reported from the X-ray a few weeks ago - explains why she has been crying with pain at times! :( She will be 16 on Tuesday - it was on her 15th birthday that I took her to our GP who tested her for anaemia & she was then referred to a haematologist, so we will be a year on this journey.
Mum to Leah who was diagnosed in April'13 with MDS & Monosomy 7 caused by a GATA2 genetic mutation, aged 15 years. Sadly Leah died of transplant related complications in the N. Ireland Children's Hospice January '14 . :cry:
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