APEL ZA POMOĆ
Poštovani, Zovemo se Angelina i Aleksandar Novaković. Nasa ćerka Nađa, uzrasta 9 godina, boluje od jako retke i teške bolesti matičnih ćelija, mijelodisplastičnog sindroma ‐ refraktorne citopenije. Njena koštana srž je prestala da radi tj. da proizvodi ćelije krvi i Nađi je u poslednja tri meseca život omogućen jedino primanjem redovnih transfuzija krvi i trombocita. Nađa se od juna 2013. godine leči na Univerzitetskoj dečijoj klinici u Tiršovoj na odeljenju Hematologije i onkologije. Ni pored mukotrpnih analiza, punkcija koštane srži i dve hirurške biopsije kosti koje je pretrpela ova hrabra devojčica, dijagnozu ove opake bolesti nije bilo moguće postaviti u našoj zemlji. Po preporuci lekara smo otputovali u Univerzitetsku kliniku u Frajburgu, u Nemačkoj, gde je posle još jedne biopsije kosti tim Prof.Dr. Charlotte Niemeyer postavio dijagnozu MDS RCC. Nadja se može potpuno izlečiti transplantacijom koštane srži. U poslednje dve nedelje Nađino stanje se jako pogoršalo i zbog progresije bolesti više ne reaguje na transfuzije trombocita pa su krvarenja iz usta svakodnevna, a u opasnosti je i od drugih vrsta krvarenja koja joj mogu neposredno ugroziti život. Telo joj je prekriveno bolnim modricama, a usta puna krvnih podliva od kojih ne može normalno da jede i da priča. Od dugotrajne anemije joj se javljaju glavobolje i bolovi u eksremitetima. Njen život je u velikoj i stalnoj opasnosti. Neophodno je u što hitnijem roku izvršiti transplantaciju koštane srži. Nađa nema srodnog davaoca, te bi zbog hitnosti operacije i nemanja dovoljno vremena da se traži nesrodni podudarni davalac majka bila donor koštane srži. Ovakav vid transplantacije je najteži i može se uspešno obaviti u Nemačkoj ili Italiji. Procena troškova operacije u Nemačkoj iznosi 300.000 Eur. Obraćamo se za pomoć svima koji su u mogućnosti da nam pomognu da Nadja ponovo postane srećno i zdravo dete. Na internetu možete pratiti sve o Nađi i onima koji joj pomažu. https://twitter.com/pomozimoNadji https://www.facebook.com/PomozimoNadji Žiro računi Dinarski: 265‐0200000054378‐94 Raiffeisen banka Beograd Devizni: RS35265090000000000939 Raiffeisen banka Beograd Swift Code banke: RZBSRSBG Humanitarni SMS broj: ukucati Nadja na 5757 Zahvalni roditelji U prrilogu Vam dostavljamo Nađinu m
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Alekksandar Novvaković 063
3 10 66 409
9 Anggelina Novakković 063 808 2 707 FA
ACEBOOK TTWITTER Zentrum für Kinderund Jugendmedizin
UNIVERSITÄTSKLINIKUM FREIBURG
Zentrum für Kinder- und Jugendmedizin ● Mathildenstraße 1 ● 79106 Freiburg
Pädiatrische Hämatologie
und Onkologie
Prof. Nada Krstovski, MD. PhD
Department of Hematology / Oncology
University Children's Hospital
Medical faculty University of Belgrade
Tirsova 10
11000 Belgrade
Serbia
Ärztliche Direktorin
Prof. Dr. Charlotte Niemeyer
Ambulanz:
Stammzelltransplantation
Dr. Brigitte Strahm
Telefon
Telefax
+49 761 270-45200
+49 761 270-46160
Freiburg, 11.02.2014
Zeichen:
A3070222.002
Nadja Novakovic geb. 03.02.2005, PIZ 30702220,
Vukasoviceva 2 F/22, SRB-11000 Belgrade
N./ Fam. Nadja Novakovic, Vukasoviceva 2 F/22, SRB-11000 Belgrade
N./ Prof. Niemeyer, EWOG-MDS/SAA Studienzentrale
Dear colleagues,
we report on the above mentioned patient who presented to our clinic on January 9, 2014 and
January 10, 2014.
Diagnosis:
Suspected Myelodysplastic Syndrome,
Refractory Cytopenia of Childhood
Normal Karyotpye
History: Nadja became symptomatic in June 2013 with bruises. Her blood count revealed a
thrombocytopenia of 69 000/µl and an anemia with hemoglobin of 9,9 g/dl. A bone marrow aspirate and a trephine biopsy showed hypocellular bone marrow and lack of megakaryocytes. Hemoglobin F was 0.5 %, folate and vitamin B12 levels were normal. Virus diagnostics were negative for EBV, Hepatitis B, Parvovirus. Diagnostics for paroxysmal nocturnal hemglobinuria was
negative. An analysis of the chromosome stability had been performed but results were ambiguous. Peripheral blood cytogenetics had been normal. Lymphocyte phenotyping revealed a slightly
reduced number of NK cells but was otherwise normal.
A control bone marrow aspirate and biopsy in November 2013 were sent to the EWOG-MDS
study and were highly suspicious for refractory cytopenia.
So far, Nadja had received 3 red cell concentrates (the last was given on January 3rd, 2014) and 9
platelet concentrates (the last on January 3rd, 2014). Mucosal bleeding occurred only with dental
transition, when she was given tranexamic acid as well.
HLA typing of the family was performed and no HLA-compatible donor was found.
The mother´s pregnancy with Nadja had started as a twin pregnancy, only one fetus survived; the
mother had been treated with progesterone. The girl was born spontaneously with a birth weight
- 2Novakovic, Nadja, geb. 03.02.2005
novakovic.docx
_____________________________________________________________________________
of 3 100 g and a length of 52 cm, Apgar-Score 10.
Nadja had been breastfed for 18 months, feeding continued to be normal. She had been vaccinated according to her country´s recommendations including BCG. Apart from uncomplicated
febrile infections of the upper respiratory tract she had always been well, milestones of psychosocial development were reached normally. She is now visiting the 3rd grade of primary school, has
very good marks and likes to draw.
She is the first child of her non consanguineous family, her 3 year old sister is healthy. Her mother´s father had suffered from malignant melanoma.
Her parents both work as managers.
Physical examination: 8 11/12 year old girl in good general status with hypertrichosis. Some
pretibial petechiae. Mucous membranes without bleeding symptoms, no fungal infection. Cervical
lymphnodes of 1 cm on both sides, no other lymph node enlargement. Cardiopulmonary and abdominal findings normal, no splenomegaly. Tanner stage B1-2, P1. Neurologic examination normal.
Somatogramm: Length 143 cm, weight 42,1 kg.
Diagnostics:
Blood count of January 9th, 2014: Leukocytes 4,2 G/l; Platelets 36 G/l; Red cells 3,39 T/l; Hemoglobin 10,8 g/dl; Hematokrit 31 %; MCV 91 fl; MCH 32 pg; MCHC 35 g/dl; Retikulocytes 12
Promille; Bands 2 %; Neutrophils 38 %; Eosinophils 1 %; Basophils 0 %; Monocytes 4 %; Lymphocytes 54 %;
Hb F of January 9th, 2014: (HPLC) 2,5 %;
Clinical Chemistry of January 9th, 2014: Sodium 140 mmol/l; Potassium 3,9 mmol/l; Calcium
2,36 mmol/l; Chloride 105 mmol/l; Magnesium 0,78 mmol/L; Phosphate 1,5 mmol/L; Nitrogen 25
mg/dl; Kreatinine 0,37 mg/dl; Uric acid 3,5 mg/dl; Glucose 91 mg/dl; LDH 255 U/l; GOT (AST) 32
U/l; GPT (ALT) 43 U/l; Alk. Phosphatase 245 U/l; Gamma-GT 20 U/l; total Bilirubin 0,5 mg/dl;
Cholin-Esterase 10033 U/l; total protein 7,3 g/dl; Immunglobuline G 1463 mg/dl.
Bone marrow aspirate of January 9th, 2014 (EWOG MDS/SAA study):
Blasts
0%
Promyelocytes
0%
Myelocytes
4%
Metamyelocytes
4%
Bands
4%
Neutrophils
21 %
Eosinophils
4%
Basophils
1%
Monocytes
9%
Lymphocytes
43 %
Erythrocyte Precursors
10 %
The peripheral blood smear displays an anisopoikilocytosis with macrocytes and polychromasia.
ANC 1680/µl. Cell content in the aspirate and cellularity of the microbiopsies are reduced. No
megakaryocytes. Erythro- and myelopoiesis are hypoplastic and mildly dysplastic. Scattered hemophagocytosis, no elevated blast count. The findings are compatible with refractory cytopenia
without progress.
Bone marrow trephine of January 9th, 2014 (PD Dr. I. Baumann, EWOG-MDS/SAA reference
pathologist): Biopsy with two subcortical marrow spaces with scattered normofrequent erythropoiesis shifted to the left, granulopoetic hypoplasia and lack of megakaryopoiesis. This corresponds to a myelodysplastic syndrome, stage refractory cytopenia. Immunhistochemically, no
CD61-positive megakaryocytes were seen.
- 3Novakovic, Nadja, geb. 03.02.2005
novakovic.docx
_____________________________________________________________________________
Bone marrow cytogenetics of January 9th, 2014 (Prof. Schlegelberger, EWOG-MDS/SAA
reference geneticist): Normal karyotype, 46, XX, [15].
Evaluation: Blood smear, bone marrow and trephine biopsy are suspicious for a myelodysplastic
syndrome, stage refractory cytopenia of childhood. The karytotype is unremarkable and the clinical course is characterized by transfusion dependency for red blood cells and platelets, but not by
neutropenia. We strongly recommend the exclusion of Fanconi Anemia in all patients with hypocellular bone marrow disease. The respective diagnostic test has been performed in Serbia, but
the results were inconclusive and we therefore recommend repeating the test in the Laboratory of
Prof. Schindler in Würzburg. The parents have been informed and the diagnostic work up is ongoing.
For patients with refractory cytopenia the preferred curative treatment is allogeneic stem cell
transplantation. However, Nadja does not have a matched sibling donor and therefore the feasibility of stem cell transplantation depends on the identification of a matched unrelated donor. We
suggest performing the search for a matched unrelated donor via our institution. In order to perform a donor search we would need 20 ml EDTA blood of the patient (send to our institution at
room temperature by a reliable courier service) for high resolution HLA-retyping, a written consent
(form attached) and a pre-payment covering the estimated cost of the donor search (15.000 Euro).
Following the identification of a matched unrelated donor Nadja would be eligible for allogeneic
stem cell transplantation with a reduced intensity regimen. This treatment resulted in an overall
survival of 92 % for patients with refractory cytopenia in a prospective EWOG-MDS study. The
main cause of treatment failure was primary graft failure in 5 out of 55 recipients of matched unrelated donors and secondary graft failure in 1 out of 55 recipients. There also was a significant
incidence of viral infections probably related to the highly immunosuppressive regimen and of
fungal infections in patients with preexisting neutropenia.
Alternatively, patients with refractory cytopenia may successfully be treated with immunosuppressive therapy with anti-thymocyte globulin and ciclosporin A. In this case we strongly recommend
the use of horse anti-thymocyte globulin. Using this regimen, the cumulative incidence of relapse
was 15 % at 4 years; the incidence of clonal evolution was 12 % at 4 years. About one third of the
patients that have been treated with immunosuppressive therapy received second line allogeneic
stem cell transplantation for treatment failure.
We offer to perform the search for an unrelated donor (see above) and allogeneic stem cell transplantation in our institution once the financial issues are settled.
Yours sincerely,
Prof. Dr. Charlotte Niemeyer
Medical director
Dr. Brigitte Strahm
Attending physician
Dr. Anke Peters
Pediatrician
UNIVERSITÄTSKLINIKUM FREIBURG
Zentrum für Kinder- und Jugendmedizin ● Mathildenstraße 1 ● 79106 Freiburg
Pädiatrische Hämatologie
und Onkologie
Ärztliche Direktorin
Prof. Dr. Charlotte Niemeyer
Sekretariat:
Telefon
+49 761 270-45060
Telefax
+49 761 270-45180
[email protected]
Station von Pfaundler:
Telefon
+49 761 270-45520
Labor 1
+49 761 270-45150
Labor 2
+49 761 270-46150
Information +49 761 270-43000
Freiburg, 2014-03-03
Zeichen: Ba
ESTIMATED INVOICE
To Whom It May Concern
This letter is to inform you, that the treatment of Nadja Novakovic at our University Children´s
Hospital in Freiburg can only be initiated, after a pre-payment has been made. We kindly ask you
to transfer a pre-payment of 300.000 € to the following account:
Sparkasse Freiburg - Nördlicher Breisgau –
Account number: 2004406, BLZ 68050101
IBAN: DE08680501010002004406 BIC: FRSPDE66
Subject: Nadja Novakovic (Nemo)
Owner of the account: University Hospital Freiburg
The administration of the University Hospital will acknowledge the receipt of the pre-payment.
Final costs might be higher than this pre-payment. Total costs will depend on the treatment provided and on the length of the hospital stay. If the final costs are higher than the pre-payment, the
patient will be responsible for the difference. A final invoice will be provided.
Please transfer only Euro, the transfer of dollars will cause a long delay.
Important: Please fax a copy of the transfer voucher to the following number
0049-761-270 84060.
If there are any further questions, please do not hesitate to contact us.
Sincerely yours,
Prof. Dr. C. Niemeyer
Medical Director
UNIVERSITÄTSKLINIKUM FREIBURG · Anstalt des öffentlichen Rechts · Sitz Freiburg
Aufsichtsrat Vorsitzender: Ministerialdirigent Clemens Benz
Vorstand Leitender Ärztlicher Direktor: Prof. Dr. Dr. h.c. Jörg Rüdiger Siewert (Vorsitz)
Stellvertretender Leitender Ärztlicher Direktor: Prof. Dr. Dr. Rainer Schmelzeisen
Kaufmännischer Direktor: Dipl.-Kfm. Reinhold Keil
Dekan der Medizinischen Fakultät: Prof. Dr. Dr. h.c. mult. H. E. Blum
Pflegedirektorin: Beate Buchstor
Bankverbindung
Sparkasse Freiburg-Nördlicher Breisgau
BLZ 680 501 01 · Konto-Nr. 2004 406
IBAN DE08 6805 0101 0002 0044 06
BIC FRSPDE66
www.uniklinik-freiburg.de
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Nadja Novakovic