My Pompe - Krajowe Forum na rzecz terapii chorób rzadkich

Edytka 10 lat
Maciek 27 lat
Andrzej 32 lata
Justyna 22 lata
Karolina 7 lat
Bartek 7 lat, Tomek 18 lat, Kinga 3 lat
. . . niektórzy z pośród
pacjentów z chorobą
Pompego
Natalka 20 lat
Marcin 22 lata
Nr KRS 0000060517
NIP 123-09-99-634
Regon 003448391
tmatulka@wp.pl
www.mps.sart.pl
Kom. 0-605 36 88 40
Tel. (0-22) 715-33-19
fax (0-22) 715-33-11
Głosków dn. 30.10.2007 rok
Rada Konsultacyjna
Agencji Oceny Technologii
Medycznych
Szanowni Państwo,
Stowarzyszenie Chorych na Mukopolisacharydozę i Choroby Pokrewne zwraca się z prośbą o pomoc w leczeniu,
gdyż doszło do przerwy w leczeniu chorych na chorobę Pompego (glikogenoza typ II). W Polsce zdiagnozowanych
jest 15 osób z tą chorobą.
Dla trzech osób w ciężkim stanie Firma Farmaceutyczna przekazała lek charytatywnie, czworo dzieci otrzymało
leczenie w ramach Farmakoterapii Niestandardowej, po trzech miesiącach CZD zwróciło się do NFZ w sprawie
refundacji dalszego leczenia chorych, lecz NFZ odmówił, więc firma farmaceutyczna dała lek dla tej czwórki jeszcze na
miesiąc, z nadzieją, że w tym czasie NFZ wyda decyzję o dalszym leczeniu, lecz tak się nie stało, w związku z tym
doszło do przerwy w leczeniu.
Chorzy po czterech miesiącach mieli widoczną poprawę, poprawił im się znacznie oddech, kondycja fizyczna i
ogólne samopoczucie. Natomiast jak przerwano u nich leczenie załamali się, ponieważ wrócili do punktu wyjścia, jest
to równoznaczne ze skazaniem ich na śmierć. W przypadku chorych na chorobę Pompego jeżeli dojdzie do
tracheotomii jest to już nieodwracalne. Większość tych chorych to bardzo inteligentne wykształcone lub kształcące się,
osoby, które znają kilka języków. Pytam dlaczego nasze Państwo skazuje ich na wegetację lub na śmierć?
Od trzech lat Justyna Kędzia ma podawany lek, dziewczyna z dnia na dzień czuje się lepiej, również dwie inne
osoby Marcin i Andrzej są leczeni, dlaczego lek im pomaga, dlaczego na całym świecie nie podważa się skuteczności
leczenia chorzy są od dawna leczeni, a my cały czas musimy coś udowadniać. Osoby, które otrzymują lek są żywym
dowodem skuteczności leczenia chorych na chorobę Pompego (glikogenoza typ II).
Życie ludzkie jest najcenniejsze i powinniśmy zrobić wszystko, aby ludzie, którzy mają szanse na ratowanie
zdrowia i życia, mieli możliwość skorzystania z takiej szansy. Jest tyle cierpienia na świecie, chorzy na chorobę
Pompego nie muszą cierpieć, ponieważ mają lek Myozyme, który niewątpliwie zapobiega tracheotomii i przejściu na
oddychanie przy pomocy aparatu tlenowego, a to im zamyka drogę do normalnego życia.
Z wyrazami szacunku,
Teresa Matulka
Prezes Zarządu
Stowarzyszenie Chorych na Mukopolisacharydozę i Choroby Pokrewne
Tel. 022 757 81 97 kom. 0605 36 88 40
www.mps.sart.pl e-mail: tmatulka@wp.pl
___________________________________________________________________________________
Konto: BPH PBK S.A. Oddz. w W-wie 28 1060 0076 0000 4010 2017 9655
Adres siedziby: 05-503 Głosków, ul Radnych 9A
Spis treści
Informacja o refundacji terapii Pompego w UE i w Polsce . . . . . . . . . . . . . . . . . . . . . . . .
Potwierdzenia skuteczności terapii Pompego pochodzące
od międzynarodowych organizacji pacjentów . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
Medyczne relacje z efektów terapii pacjentów w Polsce . . . . . . . . . . . . . . . . . . . . . . . . . .
Fragmenty relacji pacjentów na temat skuteczności terapii enzymatycznej . . . . . . . . . . .
Świadectwa skuteczności terapii Pompego pochodzące od 5 polskich pacjentów . . . . . .
Świadectwa skuteczności terapii Pompego pochodzące od zagranicznych pacjentów . .
Materiał zebrany i przygotowany przez:
Krajowe Forum na rzecz terapii chorób rzadkich - Orphan
Źródła: 1.
www.rzadkiechoroby.pl
INTERNATIONAL POMPE ASSOCIATION
www.worldpompe.org/testimonials.html
2.
Dane gromadzone przez Forum
Refundacja terapii choroby Pompego w UE i w Polsce
W Polsce z chorobą Pompego zdiagnozowanych jest 15 pacjentów. W państwach Unii Europejskiej tej starej i poszerzonej - leczy się chorych zdiagnozowanych z chorobą Pompego uznając leczenie
chorób rzadkich za priorytet w dziedzinie ochrony zdrowia.
U podstaw Rozporządzenia UE 141/2000 zmierzającego do poprawy dostępu pacjentów do leków na
rzadkie choroby leżą ważne społeczne wartości, wskazujące na potrzebę tworzenia równego dostępu
do terapii w całej Unii Europejskiej. W wyniku uznania przez UE chorób rzadkich za obszar
priorytetowy działań w zakresie zdrowia publicznego rozporządzenie to określa konieczność dążenia
do sytuacji, w której pacjenci dotknięci chorobami rzadkimi winni mieć równy dostęp do terapii,
niezależnie od rzadkości danego schorzenia oraz niezależnie od warunków ekonomicznospołecznych występujących w danym kraju członkowskim.
Takie podejście, neutralizując ekonomiczne skutki rzadkości schorzenia, pozwala na zapewnienie
terapii dla bardzo wąskich grup pacjentów ponieważ przedkłada aspekt społeczny i etyczny terapii
niwelując dominację aspektu ekonomicznego. Działając w duchu unijnego specjalnego traktowania
chorób rzadkich, przede wszystkim w przypadku ocen skuteczności nowych terapii ratujących życie
pacjentów, wartości socjalne i etyczne oceny HTA powinny być dominującym czynnikiem
decydującym o wdrożeniu programu terapeutycznego. Jak pokazują dane z tabeli takie podejście
skutkuje zapewnieniem refundacji terapii Myozymem we wszystkich państwach, niestety jak
dotychczas za wyjątkiem Polski.
W naszym kraju leczona jest zaledwie trójka pacjentów i to jedynie ci, którzy objęci zostali
programem charytatywnym sponsorowanym przez producenta leku.
Dane dotyczące refundowanego leczenia choroby Pompego
(wrzesień 2007)
Państwo
Holandia
Niemcy
Dania
Finlandia
Szwecja
Portugalia
Wielka Brytania
Luksemburg
Austria
Hiszpania
Norwegia
Włochy
Francja
Grecja
Belgia
Rumunia
Słowenia
Irlandia
Węgry
Szwajcaria
Czechy
Turcja
Polska (zdiagnozowano 15 osób)
ilość leczonych pacjentów
58
104
4
1
3
8
44
1
8
17
1
56
48
4
22
1
1
1
2
4
1
9
0
Źródło: Krajowe Forum na rzecz terapii chorób rzadkich
W większości krajów leczonych jest
100% zdiagnozowanych pacjentów
AMDA
Aci d Mal tase Defi ci en cy Asso ci ati o n
P.O. Box 700248
San Antonio, TX 78270
Tel: 210-494-6144; Fax: 210-490-7161
Email: utsatiff@aol.com or mzimmerman@ctrc.edu
Web: http://www.amda-pompe.org
October 28, 2007
Miroslaw Zielinski
Chairman
National Forum for Therapy of Rare Diseases “Orphan”
Poland
Dear Miroslaw,
The AMDA is a patient organization based in the United States. It is a support group for patients who have
been diagnosed with Pompe disease. On April 28, 2006, the FDA approved Myozyme for all patients
diagnosed with Pompe disease, which is defined as a deficiency or lack of the enzyme acid alphaglucosidase.
When symptoms appear within a few months of birth, babies frequently display a markedly enlarged heart
and die within the first year of life. Patients with residual enzyme activity may not experience symptoms
early in life; however, after the onset of symptoms, the disease can progress rapidly causing debilitating
muscle weakness, severe respiratory impairment and often premature death from the very serious and well
known disabilities that all Pompe patients exhibit.
Many patients on treatment with Myozyme are experiencing "life" again after many years of despair. To
many patients, something as simple as going to the store or going to movie is a new and much appreciated
life change.
The following are feelings expressed by those being affected by Pompe disease.
“Myozyme has given our son the strength and endurance that he has never had. It has allowed him to be the
healthiest he has ever been in his entire life. This treatment has given our son the ability to do the things
that he was never able to do before. Just the normal things that people take for granted everyday. Simple
choices.”
“Myozyme has been crucial to the quality of life that I lead. I have gone from being homebound because of
fatigue to now having the energy to venture outside the house, such as going to the grocery store or
enjoying a car ride with my family. Just recently, I was able to go to the beach, which I haven't been to in
many years due to fatigue.”
“Myozyme has given me a much better outlook on life. Before, I could only make plans for outings that
would never materialize because of my lack of energy. Now, these plans can become fond memories that I
will treasure.”
“I have seen great improvements in my health since starting Myozyme on May 10th, 2006. I cannot express
the joy I have in my life now that I am receiving Myozyme. I am healthier both physically as well as
emotionally. A year ago I was at 13% lung function; I am now at around 24%. For me this is the best thing
that could happen to me. It allows me to go out into the community and participate in life once again. The
most important thing for me is that Myozyme has given my 14 year old daughter her mother back.”
The AMDA hopes that you have great success with your campaign in Poland.
Best regards,
Tiffany House
Director, AMDA
Pacjenci o skuteczności Myozyme ... w Polsce i na świecie
Od 12 lat oddycham przy pomocy respiratora i przez większość tego czasu byłam przykuta do łóżka. Nie
mogłam chodzić, coraz bardziej zanikały mi mięśnie kończyn górnych, mięśnie szkieletowe i wszystkie
pochodne. Cztery lata temu nie mogłam już siadać i samodzielnie utrzymać głowy, a także miałam duże
trudności z mówieniem. ... W lipcu bieżącego roku minęły trzy lata mojego leczenia. Obecnie samodzielnie
poruszam się na elektrycznym wózku inwalidzkim i często opuszczam dom. Z rodziną i przyjaciółmi bywam w
kinach, supermarketach, kawiarniach, odwiedzam znajomych i chodzę na spacery. Po prostu poznaję świat na
nowo i muszę przyznać, że znacznie się zmienił przez te 12 lat, kiedy go ‘’nie widziałam’’. Nadal pracuję w tej
samej firmie i aktualnie przygotowuję się do obrony pracy licencjackiej w Polsko-Brytyjskiej Wyższej Szkole
Zarządzania na kierunku Marketingu i Reklamy. Następnie zamierzam rozpocząć magisterium. Wydaję drugi
tomik poezji i sądzę, że na tym nie poprzestanę. Żyję bardzo aktywnie i nie wyobrażam sobie, by mogło być
inaczej.
Podsumowując, z całą pewnością stwierdzam, że Myozyme jest lekiem skutecznym, bowiem nie tylko
hamuje rozwój choroby, lecz także cofa powstałe w jej wyniku zniszczenia organizmu..... Uważam, że
Myozyme jest ogromną szansą dla nas, ludzi dotkniętych chorobą Pompego i im wcześniej się go poda, tym
większe szanse powrotu do zdrowia.
Z wyrazami szacunku
Justyna Kędzia
More than once we have heard from people, who didn't know about Karen's illness, "But you
can't see that there is anything wrong with Karen ......" We are convinced that someone like
Karen, given the necessary understanding, can live a 'normal' life.
Dirk and Hilde,
Karen's parents.
About one month after I started treatment I started to feel better. Somehow it felt as if I did have more
energy. A couple of months later I noticed that my grip has strengthened. I also noticed that the
deterioration, that I knew so well during the past years, had stopped. All in all I am slowly improving I
feel grateful and happy that Pompe patients do have a treatment now. That we can go back to a life
that is normal. We have a lot to offer this world. We are talented, bright and creative individuals but
we need the strength to make a difference in this
world. The treatment will give us a chance to make our marks in this world.
Juan
Enzyme replacement therapy has benefited me a lot already. I am able to live an active life again and to
participate in society. I now do have a future. Dealing with Pompe disease is a team effort that affects everyone
close to me. I am so fortunate to receive enzyme replacement therapy already. Thanks to Myozyme I can
continue my paid job, my voluntary work and can I give presentations at conferences and teach students without
using the ventilator……….. I can tell you from my own experience that enzyme replacement therapy for Pompe
disease does work!
Maryze
… it is effective. That has been shown in babies and children with Pompe. The effect is not the same for
everyone, but one thing is clear - the sooner you are treated , the better the results.
Wilma
November, 2005
The physical and emotional change in Jayne since she started receiving Myozyme once a fortnight has been
nothing short of miraculous. Before she began the treatment she had a permanent gray pallor to her skin, was
constantly exhausted and was more or less bedridden.…..Since starting Myozyme, however, we have watched a
miracle unfold before our eyes. The gray pallor has disappeared and been replaced by a healthy rosy glow to
Jayne’s skin. … Her constant headaches have reduced in frequency and intensity and she experiences slightly
less pain in her body overall.… Jayne says it is as if her body is slowly awakening from a long, long sleep.
Bronwyn, Jayne’s sister
On 18th November 2004, Benthe received her first infusion and after a number of treatments we
noticed that she was becoming stronger/ sturdier. Her heart muscle became smaller and her
ventilation support could be slowly decreased with the result that on 17th December 2004 she no
longer required artificial ventilation. Slowly but surely her feeding improved… the feeding tube
was no longer necessary and Benthe could drink and empty her own bottle… Benthe is now almost
one year old. She is developing as any healthy baby would … She can/ does what any normal
baby can/ do. This proves again how important it is to diagnose Pompe disease early. The earlier
the treatment the better it is for the patient.
Benthe’s parents,
Jeroen and Mirjam
After much adversity came the moment in November 2003, when our son received his first infusion of Myozyme.
From that day to this and with the existing parameters of the assess to the enzyme, we can propose that we at
least reached a few degrees of normality. Miguel can now occasionally come off the breathing apparatus for a
few hours at a time…. 2 years ago it would not have been possible...We go to the museum, the cinema and the
library……A few months ago Miguel went to school by himself where he was registered, to finally meet the other
students…Together with the noticeable positive changes especially with his breathing, Myozyme had
unmistakably helped him to gain weight and to improve his muscle tone. I would like to end by saying that Miguel
will shortly be able to describe himself about what he feels, how he lives with his disease and what it means to
him to receive this hope-giving therapy.
Antonio
Miguel’s father
Thanks to the therapy I gained strength and I was able to study and to get my diploma from the
Scientific Lyceum. Presently I am enrolled and attend courses of Psychology at the University of Florence,
accompanied by my mother and a tutor. It is my wish to be able to obtain my self sufficiency and to be
able to get my master degree with my own legs.
Pamela
I have been getting treatment with Myozyme for the past eleven months. And I am so happy that
I am being treated. During the last 6 months of 2005 especially, I really felt that I was going
downhill at a very fast rate, and I was very worried. Now, after eleven months of treatment, I
keep getting comments on how well I look, and I am told that my voice sounds noticeably
stronger.……. My breathing has improved a little, I have more energy,… a very good appetite, …
and I feel just great!
Betty
December 2006
Six months into the treatment, I could see a difference...
By 8-12 months, things were changing every week... I feel
so light, full of energy and normal... This treatment has made
me stay totally positive and hopeful for the future and I have
started to think about things other than my disease.
Michelle
. . . . . . . świadectw takich jak w
powyższych listach jest o wiele
więcej . . . lecz ich liczba zawsze
będzie o wiele mniejsza niż w
innych chorobach występujących
powszechnie ponieważ choroba
Pompego to choroba ultra rzadka.
Justyna Kędzia
Ul. Cebuli 39
42-600 Tarnowskie Góry
Tarnowskie Góry 28.09.2007r.
SZANOWNY PAN PREZES
ANDRZEJ SOŚNIERZ
NARODOWY FUNDUSZ ZDROWIA
UL.GRÓJECKA 186
02-390 WARSZAWA
Nazywam się Justyna Kędzia i mam 22 lata. Choruję na Glikogenozę Typ II Pompego. Od 12
lat oddycham przy pomocy respiratora i przez większość tego czasu byłam przykuta do łóżka. Nie
mogłam chodzić, coraz bardziej zanikały mi mięśnie kończyn górnych, mięśnie szkieletowe i wszystkie
pochodne. Cztery lata temu nie mogłam już siadać i samodzielnie utrzymać głowy, a także miałam duże
trudności z mówieniem.
Właśnie wtedy rozpoczęłam leczenie pobierając enzym. Myozyme był jeszcze w fazie
przedrejestracyjnej. Rozwój choroby został całkowicie zatrzymany i już po kilku tygodniach poczułam
się znacznie lepiej. Wzrosła siła mięśniowa lewej ręki. Mogłam bez trudu pisać na komputerze,
posługiwać się telefonem komórkowym i uścisnąć dłoń na powitanie. Z czasem pojawiały się kolejne
elementy poprawy. Coraz dłużej siedziałam na wózku, swobodnie utrzymywałam i obracałam głowę,
zaczęłam poruszać stopami, mówiłam głośniej i wyraźniej, a także do kilku minut wytrzymywałam na
własnym oddechu. Enzym na tyle poprawił moją kondycję fizyczną, że rozpoczęłam studia w systemie elearning, a także zatrudniłam się w pewnej firmie do pracy przez internet.
W lipcu bieżącego roku minęły trzy lata mojego leczenia. Obecnie samodzielnie poruszam się
na elektrycznym wózku inwalidzkim i często opuszczam dom. Z rodziną i przyjaciółmi bywam w kinach,
supermarketach, kawiarniach, odwiedzam znajomych i chodzę na spacery. Po prostu poznaję świat na
nowo i muszę przyznać, że znacznie się zmienił przez te 12 lat, kiedy go ‘’nie widziałam’’. Nadal pracuję
w tej samej firmie i aktualnie przygotowuję się do obrony pracy licencjackiej w Polsko-Brytyjskiej
Wyższej Szkole Zarządzania na kierunku Marketingu i Reklamy. Następnie zamierzam rozpocząć
magisterium. Wydaję drugi tomik poezji i sądzę, że na tym nie poprzestanę. Żyję bardzo aktywnie i nie
wyobrażam sobie, by mogło być inaczej.
Podsumowując, z cała pewnością stwierdzam, że Myozyme jest lekiem skutecznym, bowiem nie
tylko hamuje rozwój choroby, lecz także cofa powstałe w jej wyniku zniszczenia w organizmie. Oczywiście
wymaga to dużo czasu i intensywnej rehabilitacji, ale ja jestem żywym przykładem na to, że lek działa – już
czuję się o wiele silniejsza i ufam, że będzie coraz lepiej. Dzisiaj boję się nawet pomyśleć ,co by było
gdybym nie pobierała leku, A może już by mnie nie było? Uważam, że Myozyme jest ogromną szansą dla
nas, ludzi dotkniętych chorobą Pompego i im wcześniej się go poda, tym większe szanse powrotu do
zdrowia. Jesteśmy w Unii i myślę, że nie powinniśmy zamykać okna otwartego na świat i na osiągnięcia
nauki, zwłaszcza jeśli w grę wchodzi najwyższa wartość jaką jest życie ludzkie!
Pozbawienie szansy refundacji leku to niejako odmówienie leczenia pacjentom chorym na chorobę
Pompego, to przyjecie ogromnej odpowiedzialności za życie innych,
zwłaszcza, że nie ma alternatywy. Do tej pory nie było leku, nie było nadziei na lepsze
jutro ,tragiczna egzystencja i pytania bez odpowiedzi.... Dlatego jak pojawił się lek a z nim
szansa na dalsze życie i poprawę stanu zdrowia ( czego jestem żywym przykładem ) proszę
w imieniu wszystkich chorych o zrozumienie i czynne przyczynienie się do refundacji
leczenia w/w lekiem.
Z wyrazami szacunku
Justyna Kędzia
P.S. W załączeniu pozwalam sobie przesłać płytę z moimi zdjęciami. Jest na nich
uśmiechnięta ,pełna wiary w lepsze jutro dziewczyna, tak jak inni chorzy mająca
nadzieję na to, że lek pomoże odzyskać zdrowie. Proszę nie odbierać nam tej nadziei.
Jayne’s story
Before enzyme replacement therapy (Myozyme)
First treatment with Myozyme
The fourth in a family of eight children, my sister, Jayne,
was a gentle child who loved sport but for some
mysterious reason, always had trouble running and
keeping up with her team
mates. Despite this, she took what we all thought was
just her particular inability to run well with good humour
and enjoyed the camaraderie that comes with being a
member of a
basketball team over several seasons.
As someone with enormous compassion for others and
a selfless capacity that sometimes
worked against her own best interests, it was no
surprise that Jayne chose nursing as the profession she
would enter on leaving school. From the outset, Jayne
brought a sensitivity and concern to her work that never
wavered, no matter how long the shift or how intense
the work. Universally respected and liked by her
colleagues, Jayne was renowned for her willingness to
go the extra mile.
One of her nursing workmates relayed the story of
Jayne’s concern for an elderly lady with dementia who
was distressed because she had to wear a hospital
gown while an in patient in the hospital.
6 treatments later… and counting!
Without a family to bring her own clothes to this elderly lady, Jayne went off in her lunch hour and bought 2
pretty night dresses for this patient to wear that soothed the latter’s concerns and turned this lady’s stay in
hospital from one of distress to one that was happier and more productive for all concerned. Jayne neither
expected nor received any recognition or recompense for these actions.
Over the course of her career, Jayne’s professional capacities and expertise were recognized by senior
surgeons who requested Jayne’s presence in theatre and invited her to assist in pioneering surgeries that were
being trialled.
As well as succeeding in her chosen profession, Jayne had always wanted to marry and raise a family and at 24
years of age Jayne married her husband Corrie. One year later she was overjoyed when she gave birth to her
first son, Dan and 18 months after that was thrilled when her second son, Marc, was born. Jayne believed her
life was complete. She had a husband she loved and sons that she couldn’t wait to see grow and develop. She
had a highly successful career and a job that she intended to return to when family commitments allowed. Two
months after Marc’s birth, however, Jayne began to notice that her legs would suddenly and inexplicably give
way. She started experiencing a growing number of falls and because she was now caring for a 2 month old
baby, was extremely worried that she would drop and harm Marc in one of these sudden falls.
Jayne went to see her local GP who could find nothing overtly wrong, though there did seem to be some
weakness in her neck. This was the second inexplicable result she had experienced, the first coming from a liver
biopsy that showed similarly inexplicable abnormalities when she was 22 years old.
Jayne was surprised that nothing more obvious could explain what she was experiencing and even more
surprised when her GP referred her to a neurologist for further investigation. The neurologist performed a test
that showed muscle abnormalities and then referred Jayne to a surgeon who performed a muscle biopsy.
Jayne’s marriage was just three years old and her sons were only 18 months and 8 weeks of age when she was
told she had Glycogen Storage Disease Type 2. I can clearly remember this time as my parents and I were
looking after Jayne’s boys while she stayed in hospital for 2 days to undergo this surgery. I remember how Dan
screamed and refused to leave his mother when we left the hospital and how my father drove us home while in
the back seat, I tried to restrain a despairing and frightened child who couldn’t understand why he couldn’t stay
with his mother.
I also remember the day we heard that Jayne had Pompe’s Disease and how stunned we all were. For this to
happen to someone as gentle and loving as Jayne seemed the cruelest thing of all. That it had happened to a
young mother at the start of her life was bewildering and our bemusement quickly turned to questioning the
doctors about the accuracy of the diagnosis before finally descending into anger and despair. Some of my family
simply couldn’t contemplate what this meant. We had already lost a brother and a sister to the ravages of Cystic
Fibrosis and it seemed extraordinary that we were once again facing a disease for which the medical profession
had no answer. My way of coping was to find out everything I could about this strange and unheard of disease. I
was determined that I would find a way of helping my sister cope with what she faced and that an answer would
be found to heal her.
Jayne’s husband found it particularly hard to comprehend this radical change in his family’s circumstances.
Corrie had never experienced illness and when he had confronted it in others, had responded by removing
himself from contact with the person concerned and pretending nothing was wrong. He found it difficult to enter a
hospital and viewed doctors as people who really had little to offer, believing that people recovered from ill health
by themselves and were the better for it. This attitude ultimately destroyed his marriage and helped him blame
Jayne for having this rare disease, a position he maintains to this day.
Over the next several years, Jayne’s condition gradually deteriorated. Like many others with neurodegenerative
diseases, she eventually had to accept using a walking stick and I remember how we tried to ease the fact that
her condition was slowly worsening by decorating her stick and insisting it ‘make a fashion statement’. We aimed
to have one for every outfit and start a new trend amongst stick users! But unfortunately this wasn’t the end and
by the time Jayne progressed to using crutches to help her walk, the efforts to make these aids into fashion
statements seemed frivolous and ultimately pointless. We were all being forced to confront the awful truth that
Jayne was getting worse and there was nothing we could do about it. Over the intervening months and years,
Jayne’s legs continued to give way and she suffered a broken coccyx, fractured hand and arm, broken rib,
broken nose and many, many bruises. A particularly nasty fall resulting in a fractured pelvis and broken femur,
was also the fall that put Jayne into a wheelchair for good. With advanced osteoporosis caused by the
malabsorption that accompanies Pompe’s Disease, she spent 6 weeks in hospital and a further 6 weeks in a
rehabilitation facility where, amongst other things, she learned how to transfer using a transfer board, confronted
the fact that she would never walk again and began the slow, painful and devastating process of adjusting to life
as a person with a disability in a wheelchair. During the time Jayne was in hospital, another sister and I slept by
Jayne’s bedside for the first week and then went into the hospital in shifts throughout the day, starting at 6am
and leaving at around 9pm. We did this because, despite the best efforts of the nursing staff, they had enormous
difficulty understanding that Jayne’s muscles were so weakened that she could not comply with many of their
instructions and requests. Because of this and in spite our best efforts to prevent it, several situations occurred in
which Jayne experienced additional intense pain because the staff thought she was unwilling to try to move. Not
only did Jayne endure the additional physical pain this delivered, she was intensely frustrated and depressed by
this latest loss of her independence and struggled to come to terms with what this would mean. This long stay in
hospital not only placed Jayne permanently in a wheelchair, it also revealed how far removed from Jayne her
husband had become.
In the years since her diagnosis, Corrie had struggled and ultimately failed to come to terms with Jayne’s illness
and its ramifications. Sadly, this is a situation often confronted by those suffering from chronic and degenerative
diseases. Almost from the outset, Corrie refused to acknowledge Jayne’s illness and responded to her as if she
was in the best of health. This meant that, despite her increasing frailty and dependency, he maintained a view
that nothing was wrong and that Jayne was quite fine. In refusing to acknowledge her growing need for support
and assistance, Corrie ultimately transferred the responsibility he should have shouldered to his two young sons.
Again, in a situation that is sadly not uncommon, Jayne’s two boys became their mother’s carers from the
moment they were old enough to understand and do so. The boys have never seen this as a problem and have
embraced this responsibility with love and a sense of normalcy that has been humbling to see. But her illness
and the responsibility the boys shoulder for their mother’s well being has also left Jayne with an enduring sense
of guilt, anger and sadness at what she sees as the unnecessary and loathsome burden she has forced on her
sons. With the fact that she would never get out of her wheelchair forcing him to finally acknowledge that Jayne’s
condition was slowly but irrevocably deteriorating, Corrie walked away from his now highly dependent wife and
abandoned his family. He left his 11 and 12½ year old sons to face the almost incomprehensible responsibility of
being the sole carers of their mother. The fact that they are their mother’s carers has never been a negative for
Jayne’s boys. But their father’s abandonment has irretrievably damaged their relationship with him and left
Jayne’s older son deeply and permanently troubled by the added responsibility he felt he had to bear as ‘head of
the household’, forever worrying that he would fail. (I remember one day looking for Jayne’s oldest son, Dan, and
finding him curled on his bed, silently crying. I asked him what was wrong and he told me he was very sad
because he’d had a dream the previous night and in his dream his mum was running and chasing him and he
was so happy. All he wanted was for her to walk again.)
The loss of her husband not only devastated Jayne emotionally. At a time when she had never needed his
support more, it devastated her financially by forcing her onto a disability pension and the poverty that
accompanies this. It also completely destroyed the last vestiges of her remaining health and dramatically
increased the rate of her physical deterioration as she shouldered the physical, financial and emotional
responsibility for keeping her family intact. In the two years after Corrie left, Jayne’s rate of deterioration
increased exponentially despite all that we, her family, did to prevent this. And we did try. My parents moved
from the country and settled 2 kilometres from Jayne. Another sister moved from the country to be near and to
help. Yet another sister and I tried to buoy Jayne’s parenting of her sons in whatever way we could and began
spending increasing amounts of time with her, supporting her physically and emotionally. Long before Corrie’s
departure, Jayne had made a decision that what remained of her life would be given unreservedly to her beloved
boys. With no hope of a treatment to reverse the ravages of Pompe’s Disease, Jayne decided to do everything
she could with the boys while
she still could. With no hope left, she willingly traded her remaining health for whatever involvement she could
have, her one wish being to live long enough to see her sons reach maturity and independence.
In this, she had to endure a relentless campaign by her immediate family who tried to preserve her health and
keep her safe in the hope that, somewhere soon, a treatment would be developed. She endured all this
‘interference’ with the same grace and determination that she has always had. Her weakened diaphragm now
meant that Jayne needed a machine to help her to breathe and her worsening physical health meant an electric
hospital bed and a sophisticated pressure mattress now entered her home. This was rapidly followed by the
advent of an electric hoist – ceiling mounted to maintain efficacy and hide the hospital like atmosphere that now
seemed pervasive – and an electric wheelchair with full pressure cushioning on the seat and spinal areas.
By now, Jayne had lost most of the major muscle mass on her body. We were on a constant mission to keep her
feeling warm and I began a new relationship with mountaineering shops in the quest for light weight outdoor gear
that Jayne could tolerate and that would keep her increasingly skeletal body warm.
The indignities that come with incontinence we tried to laugh off as something we were all confronting in our
various ways. But I never got over the small ways Jayne’s deterioration manifested itself. Like the day I realised
she’d lost the use of her right arm and what this meant for a right hander; and the fact that she could no longer
cut her own food or lift a cup to her lips. Or the days some small, insignificant piece of food or drink would ‘go
down the wrong way’ and Jayne’s futile efforts to cough would be enough to have me reaching to phone an
ambulance. To this day, the surest form of torture for me is to watch Jayne trying to cough or struggling to
breathe and not choke. It is my real and living nightmare. Jayne has always had an excellent group of treating
specialists who have supported her – and us – with compassion and honesty. Over the last 12 months, it
became increasingly clear that Jayne was reaching a point of no return. She weighed barely 49kgs and was
often spending up to 18 hours a day sleeping in bed. She needed help for everything and could no longer move
unaided in any way. Despite her failing health, Jayne’s determination to be directly involved in the lives of her
sons never wavered. She has always been fiercely independent and none more so than now. Pompe’s Disease
has not only cost Jayne her health. It also destroyed her marriage and deprived her sons of their father. Pompe’s
Disease has ruined Jayne’s career, destroyed her independence and forced her into a life of poverty and pain
that has been almost impossible to witness. But after many years of hopes being dashed as one promising
treatment after another failed to fulfil its promise, we now have a life saving treatment in Myozyme. The sad thing
was that by this point, Jayne had given up any hope of accessing this wonderful Enzyme Replacement Therapy
as promised trials and their start dates seemed to be endlessly delayed. It is impossible to describe the
overwhelming sense of gratitude and relief we all experienced when we heard that Jayne was to be included on
the Special Access Program. Jayne was
numb with shock and sometimes says she still cannot quite believe it is happening. The physical and emotional
change in Jayne since she started receiving Myozyme once a fortnight has been nothing short of miraculous.
Before she began the treatment she had a permanent grey pallor to her skin, was constantly exhausted and was
more or less bedridden. Every day was a struggle that was becoming harder and harder to sustain. She was in
enormous pain and had a very poor quality of life.
Since starting Myozyme, however, we have watched a miracle unfold before our eyes. The grey pallor has
disappeared and been replaced by a healthy rosy glow to Jayne’s skin. Though early days yet, the muscle on
her face is slowly coming back and her breathing mask fits better. Her constant headaches have reduced in
frequency and intensity and she experiences slightly less pain in her body overall. Jayne’s sense of well being is
dramatically improved and though she still suffers from extensive fatigue, she now faces the future with hope
and a sense of possibility she has not had since she was diagnosed. Jayne says it is as if her body is slowly
awakening from a long, long sleep. The other affecting result has been in Jayne’s sons. From a situation in
which they were watching their mother deteriorate before their eyes, they now have hope and confidence that
their mother will be around. They still ring her several times a day from school to make sure she is alright but
there is now a lightness and relief about them that is a delight to see. They now face the future with a confidence
they have never had before and their wish is to have their mother back as they remember her.
Jayne has promised 19 year old Dan that she will surf with him one day and 17 year old Mac that she will dance
with him at his 21st. They’re promises she intends to keep! As for the future, there are more Australians and
Pompe’s Disease sufferers in other countries who deserve the same chance of life that Jayne and her boys have
been given. We are all determined to see this wonderful, life saving treatment made available to each and every
one.
Bronwyn, Jayne’s sister