Annual Report 2022
Zeldzaam ziek... maar niet in je eend(t)je
the rareZiekten diseaseFonds SteunSupport het Zeldzame give children enfoundation geef ziekeand kinderen een kans an opportunity for a toekomst. better future. op een gezonde
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Do you to helpVolg us? Helpt u want ook mee? ons op Rare Diseases mustde wereld uit Zeldzame Ziekten Doneer via www.zzf.nl of NL15 0111.1771.11 disappear from the Rabo world Donate www.zzf.nl or NL15 Rabo 0111.1771.11
Contents President’s foreword
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What is a rare disease
5
Vision, mission, objectives
6
The organization
7
The Medical Advisory Board
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Our ambassadors
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You helped us
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Research projects
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Jan Lammers ZZF rally
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Highlights
24
Heart wishes
32
In the media
34
Board & team ZZF
36
Financial results
37
Looking ahead
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Colophon Rare Diseases Fund Foundation The Hague, 2023
Rare Diseases Fund Foundation Cornelis de Wittlaan 39 2582 AB Den Haag Phone: 0031 70 338 70 27 Info@zzf.nl www.zzf.nl Chamber of Commerce: 27280475 NL15RABO0111.1771.11 RSIN number 815540127 This annual report was made and partly sponsored by Knijnenburg Productions. Photography: Désirée Nieuwenhuize, Cees Nieuwenhuize, Production Boss, Ansho and own photos ZZF. We hold no responsibility for a wrong translation out of the Dutch version.
Rare Diseases Fund | Annual Report 2022
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President’s foreword Rare Disease, but you are not alone! For more than 17 years, the team of the Rare Diseases Fund Foundation has been committed to helping patients with a rare disease. Young and old. But we don’t do this alone. Together with researchers, companies, funds, volunteers, and you! Every year, around 14,000 children still die from a rare disease in the Netherlands, and the Rare Diseases Fund is committed to this. Through this annual report we take you through the year 2022 of the Rare Diseases Fund Foundation. The year 2022 we started with a peer contact day in Naturalis. This was a huge success. We have therefore kicked off the year 2023 with the second edition of this peer contact day in Naturalis. The number of participants almost doubled compared to the first edition. For the first time we were guests in Toverland with 1,000 visitors. Thanks to the cooperation and support of the VriendenLoterij, this became possible. All guests were completely unburdened for a day and did not have to worry about being sick for a while. Enchanted, they left the park after a day. In October we drove the 16th edition of the Jan Lammers ZZF rally. The rally is the fundraising event of the foundation. What we didn’t think was possible became reality. A record revenue of net € 185,000 was raised for the foundation and for important research into rare diseases. Studies have been successfully completed and new studies on rare diseases have been launched. We devote a few pages to the important studies on rare diseases, I refer you to pages 15 to 21.. It is also my pleasure to inform you that as of 1 April 2023 Daniëlle Nicodem is director of the Rare Diseases Fund, where she has been an employee since 1 January 2016. We cannot stress enough how grateful we are. I would therefore like to thank everyone for the support and trust you have placed in us. All involvement, warm reactions, donations and gifts are very valuable to us. I cordially invite you to read the annual report of 2022 and we hope to enthuse you to continue to support the foundation and to let patients with a rare disease know with us that they are not alone! I wish you a lot of reading pleasure. Charles Ruijgrok Chairman Rare Diseases Fund
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What is a rare disease The Rare Diseases Fund is committed to rare diseases for more than 17 years. To better understand us, it is important to know what a rare disease is, what we stand for, what we do and how we want to achieve our goals. In the Netherlands, an estimated 1 million people suffer from a rare disease. Approximately 14,000 children die each year from a rare disease. 30% die before the age of 5.
What is a rare disease Within Europe, a disease or condition is considered rare if less than 1 in 2,000 people suffer from this condition or disease. In the Netherlands, this means that there is a rare condition if there are fewer than 8,000 patients with one particular disease. In practice, these are often very rare diseases. Thousands of rare diseases affect only a few patients in Europe, such as Pompe disease and Marshall-Smith Syndrome. Rare diseases are not only diseases “that people have never heard of”, but also known diseases such as ALS and cancer, which can occur in many different rare forms. All cancers that children suffer from are rare diseases. For example, the Ewing sarcoma is a rare bone tumor. There are about 6,000 – 8,000 known rare diseases. Characteristics of a rare disease are: ■
Rare conditions are often chronic, progressive, usually life-threatening and affect a small number of patients.
■
The quality of life of people suffering from a rare disease is regulated characterized by the lack or loss of autonomy.
■
Having a rare condition is often accompanied by a lot of pain, suffering and uncertainty for the patient and his/her family.
■
Rare disease patients and their families are particularly isolated and vulnerable due to the small number of patients.
■
For many rare conditions, there is often no effective treatment.
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Vision, Mission, Objectives The Rare Diseases Fund was founded in 2005 by, among others, Charles Ruijgrok. Over the past 17 years, the foundation has experienced considerable growth in raising money for research into rare diseases and we have successfully brought rare diseases to the attention of the Dutch public.
Vision The Rare Diseases Fund finds it unacceptable that there is so little attention and resources for the fight against rare diseases. People with a rare disease are often on their own. This while millions are available from the government and various funds for research into ‘known’ diseases. In a prosperous society like the Netherlands, everyone has the right to the right care, effective treatments and - where possible - a chance of a cure. Much more money must therefore be made available for research into rare diseases. Research increases knowledge and provides insight. Only in this way can we find causes, develop new treatment methods and bring healing a step closer. In addition, we can gain more insight into the specific needs that this group of people has.
Mission The Rare Diseases Fund helps people with a rare disease. We do this by raising money for scientific research, by raising awareness of rare diseases and by organizing contact with fellow sufferers.
Objective The goals that the Rare Diseases Fund had set for 2022 and what has been achieved:
✓
■
Raising € 1,000,000, realized is € 929,852,-.
■
Further establish the ZZF organization by developing the team.
■
Fund more research on rare diseases. For 2022, the wish was again fund at least 5 new studies.
✓
✓
✓
■
Raising new funds.
■
Gaining more awareness and attention for rare diseases through the use of ambassadors, Actions & press coverage.
■
✓
Continuing contact with fellows that sufferer and setting up and expanding new
✓ ■ Organize new money-raising events. ✓ ■ Maintain adopted vision on costs. ✓ ones regionally connecting events.
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✓
■
Expand private donors and super promoters.
■
Large financiers seek cooperation with family(s) or companies.
■
Pool volunteers maintain, certainly not shrinkage.
✓
✓
The organization The Rare Diseases Fund is a small foundation that tries to achieve the highest possible result with low costs. By raising money from equity funds, companies and individuals and by organizing events, we raise money for the financing of research and the organization of peer contact. The Rare Diseases Fund Foundation has been
project management and governance. The team
designated as a Public Benefit Organization
also works together with a loyal and enthusiastic
(ANBI). This means that the ZZF is not for profit
team of 60 permanent volunteers.
and is 100% committed to the public interest. The ZZF receives no government support and is
Board meeting
entirely dependent on donations and gifts from
The board and team of the ZZF meet six times
funds, individuals and companies.
a year. During these meetings, the fundraising
The Rare Diseases Fund is committed and reliable.
activities and financial results are discussed. In
Involved through the organization of peer contact
addition, we discuss the state of affairs regarding
and reliable in the way we work. The Rare
ongoing investigations and decide on newly
Diseases Fund Foundation attaches great
submitted research applications. The directors are
importance to corporate governance.
unpaid. Read more about the board on page 36.
The board of the ZZF is unpaid.
Advisory Board The team of the Rare Diseases Fund consists
The Advisory Board meets once a year and
of 4 employees: Iselle van Ruijven (Part-time),
advises on the long-term vision. Where possible,
Daniëlle Nicodem, Yvonne Oberweis (Part-time)
they use their network to achieve our objectives.
and Lindsey Ruijgrok-van Eyk. Daniëlle Nicodem is director and together with the team responsible
Medical Advisory Board
for fundraising. Yvonne has been appointed for
The independent Medical Advisory Board assesses the research proposals that the Rare Diseases Fund receives from hospitals and patient organisations. The proposals are assessed, among other things, on feasibility, necessity and on the severity of the disease. Financial support for a study is only granted after approval by the Medical Advisory Board.
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The Medical Advisory Board consists of two
From 2014 to the beginning of 2019, Jan
members:
Smeitink was vice-chairman of the Radboud Nanomedicine Alliance and until May 2020
Prof. J. (Jan) Smeitink
chairman of the Radboudumc research theme
Professor Emeritus Mitochondrial Medicine,
Mitochondrial diseases, one of the leading
Radboudumc – Nijmegen – and Knight of the
research themes of Radboudumc.
Order of the Dutch Lion. Jan is the founding CEO of Khondrion (started
Drs. D.C.D. (Diederik) de Lange
at the end of 2012), a clinical-phased research
Urologist, Maasstad Hospital - Rotterdam
pharmaceutical company that focuses on
Diederik de Lange has been a
the development of medicines for energy
Urologist at Maasstad Hospital since
metabolism diseases. Since May 2020, he has
October 2001. He specializes in
been supporting several PhD research projects at
robot-assisted surgery and in the
Radboudumc, but his main goal with Khondrion
treatment of oncological urological
is to bring the first treatments for mitochondrial
diseases, in particular kidney and
diseases to the market.
bladder cancer. After studying
After studying Medicine, Jan Smeitink specialized
Medicine at the University of Leiden,
in pediatrics (Radboudumc Nijmegen) and
he followed the preliminary training
subspecialty metabolic diseases (Wilhelmina
in Surgery at the ErasmusMC Rotterdam and then
Children’s Hospital Utrecht). From 1996 to early
the training as a Urologist at the Leiden UMC
2019, he was head of the Department of
and the Leyenburg Hospital. In 2009, de Lange,
Metabolic Diseases. He was Director of the
in collaboration with Urologist Sjoerd Klaver,
Radboud Center for Mitochondrial Medicine
set up robotic surgery at the Maasstad Hospital.
(RCMM), which he founded in 1996, until May
This resulted in the Robot Expertise Centre of
2020. Under his leadership, the RCMM has
the Netherlands (RECN.nl).
become an international centre of expertise for patient care, diagnostics, guidance and research
Ambassadors
for patients with mitochondrial disease.
The Rare Diseases Fund receives support from
In 2001 Smeitink was appointed professor of
a number of enthusiastic ambassadors. They use
Mitochondrial Diseases. He supervised more than
their network to draw attention to the ZZF and
25 PhD students and wrote more
open doors to new cooperation partners.
than 400 scientific publications.
We deploy our ambassadors during major
In 2006 he was appointed foreign
events. They also speak to the press on behalf
adjunct professor at the Karolinska
of the ZZF.
Institute in Stockholm, Sweden and two years later he became director of the Institute for Genetic and Metabolic Disease.
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Our ambassadors Estavana Polman “A smile on the face of a sick child is priceless” “In recent years, I have seen with my own eyes the impact of having a rare disease. But I have also seen that with an action, small or large, you can put a smile on a child’s face and I am happy to commit myself to that!”
Jan Lammers “Research is necessary” “During the ZZF rally 2013 I was introduced to the Rare Diseases Fund. Research into rare diseases is necessary and I will work for this together with the other ambassadors! I am extremely proud that the ZZF rally has carried my name since 2016.”
Gijs van Lennep “It’s a lonely battle” “In the Netherlands we deal with more than 6,000 rare diseases, one million Dutch people suffer from a rare disease. Unfortunately, the need for research has not yet sufficiently penetrated society. As an ambassador for the Rare Diseases Fund, I am committed to the lonely struggle that these patients, and their families, are fighting. Only by investing money in research can we offer patients opportunities for the future.”
John Fentener van Vlissingen “Health is your greatest asset” “Health is the greatest asset you can have as a human being. Unfortunately, the reality is more erratic for many people: 1 million people are dealing with a rare disease. These people often feel left out in the cold and treatment often seems far away. For these people I want to work as an ambassador of the Rare Diseases Fund. Because together we can make ourselves strong and give people with a rare disease hope for the future”.
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Bas van Werven “Crucial importance” “There are many unknown diseases that claim victims every day. Their unfamiliarity often has to do with the fact that they occur only sporadically. This means that they receive too little attention from pharmaceutical companies and the general public. While you yourself, or a loved one, will only be affected by such a rare disease. That is why the ZZF plays a crucial role as a pioneer of research. I therefore wholeheartedly support the Fund in this endeavour.”
Madeleen Driessen “Double bad luck” “People with a rare disease are doubly unlucky. They are seriously ill and have hardly any fellow sufferers with whom they can share experiences. I myself am doubly lucky, because I am happy and healthy. By working as an ambassador, I hope to spread my happiness a bit.”
Rafael van der Vaart “Touched and unacceptable” “As a well-known former professional footballer, I get a lot of media attention. Unfortunately, this is different for children with a rare disease. That is why I am an ambassador for the Rare Diseases Fund and I give children with a rare condition the attention they deserve. This is how I realize that exercise and sports are not self-evident for everyone. It’s frustrating to see how a rare condition can restrict people’s freedom of movement. What touches me even more is that many diseases are chronic and progressive and the risk of death is high. That is unacceptable to me.”
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You helped us The Rare Diseases Fund attaches great importance to the support of partners, donors, funds and volunteers. We have a lot of appreciation for what they do. Because they make it possible for the ZZF to continue scientific research into life-threatening, rare diseases and to continue to organize events with fellow sufferers. Co-founder and chairman Charles Ruijgrok:
Companies
“With the help of all parties that helped us
We also have great partnerships with various
in 2022, we were able to end the year with a
companies. Too many to mention, but to give
total amount of € 929,852. We are extremely
you an idea you will find some examples below.
grateful to everyone for the efforts that have
These companies have a particularly warm heart
been made to realize this amount! Your
for the Rare Diseases Fund. They combine their
support, help and commitment means that
business operations with Corporate Social
we have been able to make a stand against
Responsibility or want to ‘just do something
rare diseases for more than 17 years. We are
good’ for rarely ill patients. With some of
extremely grateful for that and we hope that
these relations we have been able to shape our
the ZZF can count on your support for a long
beautiful events again: State of Art, Porsche
time to come!”
Centrum Rotterdam, Van Dillen techniek, ABS schadeherstel, Steltman Juwelier, Center Parcs,
Content Partners
Groen Eco, BCD, Knijnenburg Producties,
The ZZF works together with various
Arbo Advies Nederland and ENAG.
substantive partners in the field of heredity, health and patient interests, among other
Furthermore, we are very grateful to Toverland,
things. The Erfocentrum and the VSOP are
Efteling, Ouwehands Zoo, Naturalis, De Hoge
two of them. This collaboration is based on
Veluwe National Park, Wildlands, the Louwman
knowledge and information sharing. The use
Museum and Madurodam for their involvement
of this knowledge benefits the patients.
and for facilitating peer contact days.
Donors We cherish our donors! The ZZF does not receive subsidies from the government and is therefore dependent on donations from APPEAL: The ZZF continues to fight against rare diseases, and you? Start now with Socially Responsible Doing business for the ZZF. Contact us to find the discuss possibilities.
companies and private donations. We therefore continue to look for opportunities to approach, inspire and activate new donors.
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In addition to our own ‘donation and action
funds and foundations that underline the
module’ on the ZZF website, the GeefGratis
importance of conducting research. They
Foundation also gives donors and sponsors the
donate an amount through the Rare Diseases
opportunity to support the Rare Diseases Fund
Fund to start research. In 2022 an amount of
through donation modules. Many charities are
no less than € 501,608 was raised. We have
also supported via Facebook, including the
included the funds & foundations involved in
ZZF, by creating their own actions of private
the logo shield with partners we work with.
individuals. Last year we received € 66,635 in
We are very grateful for the long-term
donations, donations and gifts.
cooperation with the Reggeborgh Foundation. Partly thanks to their donation, the following
Legacies
studies could start in 2022: Sarcomas and
More and more people decide - part of - to
Vestibular Schwannoma.
donate their legacy to charity. They find it important that they continue to work on the
Volunteers
ideal they care about after their death. Your
No ZZF events without volunteers! Also this past
legacy can mean a lot to sick children and
year, more than 60 volunteers have committed
adults. It is possible to earmark (specifically
themselves to the Rare Diseases Fund, a stable
spend) your estate to a particular disease or to
group that is slowly expanding. New volunteers
one of our other objectives. You can contact us
have also joined the ZZF, something we are
if you want more information: info@zzf.nl or
extremely proud of. Valuable hands that help
0031 70 3387027.
operationally at events to ensure that everything runs smoothly. Without our volunteers we
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Funds & Foundations
cannot organize all this. Companies are also
In order to make research into rare diseases
giving their employees more and more space
possible, the ZZF works together with various
to help a good cause.
Center Parcs and Porsche Centrum Rotterdam
patient. This was possible thanks to (new)
are a good example of this. After all, many
collaborations with, among others, Naturalis,
hands make light work and together we can
Toverland, Efteling, De Hoge Veluwe
help more people. Thank you volunteers!
National Park, Louwman Museum, Plopsaland and Wildlands.
Beneficiants Due to the rising (healthcare) costs and
The collaboration with the VriendenLoterij
decreasing reimbursements, an extra is often
and the VriendenFonds was again extremely
not included. That is why the Rare Diseases
valuable in 2022. In addition to organizing
Fund organizes family events and peer contact
peer contact days throughout the country,
days. Unfortunately, medicines come too late
we were also able to fulfill Heart Wishes.
for many and for them and their loved ones,
New collaborations with service clubs and
these days are particularly valuable. This way
parks were also set up. Read more about
they can be themselves again, instead of a
this on pages 32 and 33.
VriendenLoterij has been a loyal supporter of ZZF for many years Earmark your lottery tickets and support the ZZF! The Rare Diseases Fund has been one of the charities of the VriendenLoterij for many years. By playing along you support us in the fight against rare diseases and you have a chance to win fantastic prizes every week. All you have to do is earmark the lottery tickets (specifically spend on) and at least 40% of your investment goes to ZZF! Are you already playing? You can adjust the tickets via your personal page on www.vriendenloterij.nl or by phone on 0900 – 300 1400. The price per lot remains the same, but half of your deposit goes to the ZZF.
Welcome new players In 2022, the VriendenLoterij welcomed many new players who are earmarked (your participation is specifically intended for the ZZF) and play for the Rare Diseases Fund. Welcome and glad you’re playing along! Also on behalf of everyone with a rare disease that we can help through your participation.
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Research projects One of our missions is to raise money for
Soft tissue sarcomas
scientific research. In the past year, we have
(duration: 2022-2023)
raised money for the following studies and
The treatment of the rare soft tissue cancer
have been able to start investigations:
(‘sarcoma’) usually consists of radiation prior to surgery. Unfortunately, 5 years after diagnosis,
New studies:
~50% of patients have metastatic disease with a poor survival rate. It is therefore important to
Vestibular Schwannoma
apply a treatment that not only locally addresses
(duration: 2022 – 2024)
the tumor, but also the metastases in the rest
The benign brain tumor Vestibular Schwannoma
of the body. Immunotherapy has that potential.
(USA) originates from the auditory nerve at the
This trains the own immune system to recognize
level of the brain stem. VS can cause complaints
and fight cancer cells. Radiation destroys cancer
such as deafness, balance problems and if the
cells, an extra stimulus for the immune system.
tumor becomes very large, the patient can die.
A kind of 1+1=3! The research group at the
If treatment is needed, it consists of radiation
Radboud Sarcoma Expertise Center led by
and/or surgery. These treatments are risky
Dr. Desar compares tissue from, before and
because of the delicate location of the tumor
after radiation to determine which changes
and the possible complications of surgery.
occur due to radiation that can increase the
New treatments are therefore needed. By
response to immunotherapy. In a small group
developing a VS laboratory model, with which
of myxofibrosarcomas (subtype soft tissue
the researchers can mimic tumor growth after
sarcoma), the researchers already saw an
treatment, they hope to discover new treatment
increase in an important group of immune cells
targets and thus be able to set personalized
after radiation. They have therefore collected
precision treatments. To this end, they have
material from a larger group of myxofibro
set up the ‘organoid’ model for VS in the
sarcomas to determine the effects of the
laboratory, in which they process VS tissue
radiation on all immune cells and targets for
from operated patients into a few cells and
immunotherapy (‘immune checkpoints’).
grow them in three-dimensional structures in a
Through this research, they hope to make
culture dish. In 2022, the researchers included
the treatment with immunotherapy also
the first patients in their study. The first research
possible for soft tissue sarcomas in the future.
results show that the VS cells grow very slowly. the growing conditions. Once the organoids
With the fruit fly in search of treatment of North Sea disease
contain enough cells, they can perform more
(duration: 2022 – 2023)
extensive analyses, such as characterizing based
North Sea disease is a rare, progressive,
on genetic (DNA) expression and testing
hereditary disorder in which patients suffer from
treatments.
balance disorders, shocks throughout the body
That is why they try to improve and optimize
and epilepsy at a very young age. There are
Zeldzame Ziekten Fonds | Jaarverslag 2022
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Onderzoeker UMCG Noordzeeziekte
about 35 known patients worldwide. The
tem disorder that affects the development of
current treatment of North Sea disease is aimed
the bone and nervous system and is caused by
at suppressing the shocks and seizures, but this
mutations in the NFIX gene. The protein made
treatment is insufficient and patients are still
by the NFIX gene binds to regulatory regions of
severely hampered in daily life. In the Sibon
other genes and disrupts functions such as in
(Biomedical Science of Cells and Systems)
the brain, heart, lungs, kidneys, liver and bones.
research group and the expertise centre for
The objective of the research, which is being
movement disorders at the UMCG in Groningen,
carried out under the coordination of the
a fruit fly model has been set up which, just like
UMC/AMC Amsterdam at Oxford University,
in the patients, shows epileptic seizures that
is to understand the functioning of the NFIX
worsen as the flies age. With this fruit fly model,
gene and its functions on other genes. This
Dr Jenke Gorter is now researching (potential)
allows them to identify drugs that can focus on
new medicines. It is being tested whether, within
restoring these functions and make potential
a collection of 1280 common medicines for
treatments available to patients with MSS.
other conditions, there may be medicines that
The oxford laboratory study showed that two
also help with North Sea disease. In the past
candidate genes (CRABP2 and VCAM1) have
year, the selection of drugs with a positive effect
been influenced at the RNA and protein levels in
on the epileptic seizures in the fruit fly model
MSS fibroblasts and these indicate an important
has been reduced to 10. This selection is now
role for the retinoic acid pathway. The next step
being further investigated for protective efficacy
is to elucidate the role of NFIX on CRABP2 and
against North Sea disease.
VCAM1 expression and the RA pathway in the development and progression of MSS. This will
Marshall-Smith Syndrome
provide clues about the best approach to arrive
(duration: 2022 – 2023)
at medicines or therapies.
Marshall-Smith Syndrome (MSS) is a multisys-
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Ongoing investigations:
disable the immune system. With medication targeting these immune checkpoints, the
Childhood leukemia
patients’ immune system is reactivated and
(duration: 2021 – 2024)
can destroy the tumor cells. This translational
“Leukemia (blood cancer) and lymphomas in
research is of great value for understanding and
children”. Every year, about 150 children in the
improving the treatment and may lead to the
Netherlands get leukemia (blood cancer) and
identification of new targets for further treat-
20 children get a Burkitt’s lymphoma. With
ment and to cost savings.
this study, the researchers want to improve the treatment and survival of childhood cancer by
Early Onset IBD
reducing complications resulting from chemo-
(duration: 2021 – 2024)
therapy treatment by providing targeted and
Crohn’s disease and ulcerative colitis (collectively
timely antibiotic treatment. They want to
called IBD) are becoming more common at a
achieve this using the techniques: rapid
very young age. This early form is called very
microbiome determinations, eNose technology
early onset (VEO) IBD. This is a serious intestinal
and the detection of metabolic profiles in the
disease that often requires lifelong immuno-
stool. The study in which they initially focus on
suppressant medication. This medication has
acute myeloid leukemia and Burkitt’s lymphoma
many side effects, including infections, allergic
is being carried out at the PMC in Utrecht (prof.
reactions and even lymph node cancer. Half of
Tissing, pediatric oncologist), in collaboration
the patients require surgery in the course of
with the department of pediatric infectious
treatment, which involves the installation of a
diseases of the WKZ (prof. Bont, pediatric
stoma or the removal of parts of the intestine.
infectious disease specialist) and the AUMC
Also, the disease itself leads to an increased
(dr. De Meij, pediatrician gastrointestinal-liver
risk of colon cancer. Led by Dr. Tim de Meij,
diseases)). More than 50 poo samples have
a research team in the AUMC/VUmc is testing
now been collected from the first 7 patients
promising markers in the stool and in blood,
participating in the study. When the first 10-15
so that the diagnosis can be made in a less
patients have participated in the study, the
stressful way and also much faster. The latest
researchers will do the first analyses of the poo
techniques and studies are used with the aim of
samples.
improving treatment strategies in children with VEO-IBD. Recently, they have shown that
Penile carcinoma
children with IBD can be distinguished from
(duration: 2021 – 2023)
healthy children with 96% accuracy, based on
Penile carcinoma or penile cancer is a malignant
only 4 amino acids and 2 bacterial species in the
proliferation of skin cells of the penis. This rare
stool. The techniques used can give results
form of cancer mainly occurs in men over the
within a few hours, making them well applicable
age of 50, but can also occur at a younger age.
in clinical practice. Currently, they are in the
Metastases are always found first in the lymph
process of validating this potential diagnostic
nodes in the groin. The Netherlands Cancer
test in a cohort of children with gastrointestinal
Institute-Antoni van Leeuwenhoek hospital has
symptoms consistent with IBD. The aim is now
been working for years to improve the cure rate
to develop a rapid test based on this that can
of cancer patients. In addition, great successes
easily be applied, also in other hospitals, when
have been achieved with the application of
deciding whether or not to refer for an internal
immunotherapy that is made by tumor cells to
examination. In this way, they hope that the
Rare Diseases Fund | Annual Report 2022
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disease can be detected more quickly, the
The macrophage, a specific type of immune cell,
right treatment can be started faster and the
has a central role in the development of HLH.
number of unnecessary, burdensome viewing
Normally, macrophages play an important role
examinations can be reduced.
in preventing infections, but in patients with HLH there is hyperactivation of macrophages,
Marfan
causing a life-threatening and uncontrolled
(duration: 2021 – 2024)
macrophage-driven inflammatory response,
Patients with Marfan Syndrome have an
causing patients to become seriously ill and die.
inherited condition in which the protein
In this project, Dr. Tom Seijkens of the Depart-
fibrillin-1 is defective. The greatest danger is
ment of Medical Biochemistry and Hematology
the softening of the large life artery; the aorta.
at Amsterdam UMC is investigating the
Without treatment, the aorta often ruptures
effectiveness of a new macrophage inhibitor,
before the age of 40. Identification of Marfan
called Trafinib, as a treatment for HLH. In
Syndrome often occurs in childhood or
addition, the research group will write an
adolescents due to external characteristics
overview article on HLH in the context of
such as being very tall for your age, bone
novel immunotherapies for cancer in order to
deformities of the chest or back or eye
promote the awareness and timely recognition
problems. The research group of dr. Vivian
of HLH in patients with cancer.
de Waard of the Department of Medical Biochemistry of the Amsterdam UMC (location
Sickle cell disease
AMC) has cultured the skin cells of 60 Marfan
(duration: 2021-2022)
patients and discovered typical characteristics
Sickle cell disease is a rare, congenital red blood
that differ from healthy skin cells. They also see
cell disease with a shortened life expectancy.
this disturbed cell behavior in the aortic muscle
Characteristic of the disease are anemia, attacks
cells of the patients. With two types of
of severe pain (the so-called “sickle cell crises”)
medication, they can correct that. It is now
and the progressive failure of all organs. Healing
being investigated whether this medication can
is currently only possible through stem cell
be given to the cells for a long time, without
transplantation. In the Netherlands, these stem
the cells suffering from other problems. This is
cell transplants for children take place in
necessary before the researchers dare to use
Leiden (LUMC) and for adults in Amsterdam
this medication in other Marfan models for
(Amsterdam UMC and Rotterdam (Erasmus
extrapolation to clinical trials.
MC). At the LUMC, this healing therapy has been made possible for almost all children
18
HLH
with sickle cell disease by increasing the donor
(duration: 2021 – 2023)
availability from 20% to almost 100% of the
Secondary hemophagocytic lymphohistiocytosis
patients. This has been achieved by improving
(HLH) is a rare and life-threatening condition
the technique in such a way that many more
that affects both children and adults. HLH is
voluntary donors and even parents can be used
characterized by an excessive activation of the
as bone marrow donors, making a good donor
immune system that is provoked by an
available for every patient. To make stem cell
underlying disease, such as cancer or infectious
transplantation safer, with fewer side effects,
diseases. The current treatment of secondary
blood tests were done on more than 300
HLH consists of the administration of
children to predict major complications such
anti-inflammatory drugs and chemotherapy.
as rejection. When analysis of this data is
complete, predictors will be used to treat
this distribution is disturbed. As a result, there
complications preventively.
is too much water in the brain, and the white matter of the brain becomes chronically
FAMMM
swollen. The cause of the disease is a change in
(duration: 2021 – 2024)
the DNA. Children with MLC develop a greatly
Familial Atypical Multiple Mole Melanoma
enlarged head, have impaired motor develop-
syndrome (FAMMM syndrome) is a rare
ment and often end up in a wheelchair in their
hereditary tumor syndrome characterized by
teens. Furthermore, MLC patients often have
a greatly increased risk of melanoma (skin
to deal with epilepsy and a slight intellectual
cancer), pancreatic carcinoma (pancreatic
disability. In the vast majority of patients, the
cancer) and other tumor types such as head
disease is caused by a defect in the genes MLC1
and neck cancer. It is caused by an inherited
or GLIALCAM. However, a handful of patients
mutation in the CDKN2A gene. Patients with
have MLC without these genes being defective.
FAMMM syndrome have an increased risk of
The project, co-funded by the ZZF, revolved
melanoma of 70% and pancreatic carcinoma
around studying a new MLC gene found in
of 20%. Often the tumors occur in several
these rare patients. This gene contains the
places on the body and develop in patients
building plan for a so-called G-protein coupled
at a younger age. Led by dr. Remco van Doorn,
receptor. By putting the healthy version or the
dermatologist and principal investigator of
damaged version of this receptor in cells, the
hereditary melanoma at Leiden University
researchers try to understand what the function
Medical Center, will look for improved
of the receptor is, and how this function is
treatment and prevention for patients with this
disrupted in MLC. They now know that the
syndrome. The aim of the research is to find
receptor is involved in the so-called volume
new therapies and preventive strategies for
regulation process. Healthy cells that swell
melanoma, pancreatic carcinoma and other
cause them to restore their volume by opening
tumors that arise in patients with FAMMM
up several tiny channels and pumps. Their
syndrome based on CDKN2A mutation. In
research shows that the opening of one of
2022, the researchers succeeded in generating
these channels is influenced by the new
the melanocyte cell system with which the
receptor. In addition, a few MLC patients
screens will be done. To carry out the pharma-
remain without defect in MLC1 or GLIALCAM,
cological compound screen, an application for
and in which the new receptor is also intact.
a ‘compound library’ consisting of more than
In these patients, they found a defect in yet
6000 pharmacologically active substances was
another new gene. This fourth MLC gene
prepared and pilot studies were carried out at
contains the building plan for a water channel
the robotics facility of the Department of Cell
that is common in brain cells. They have
and Chemical Biology of LUMC.
discovered that the defect causes the duct to no longer properly enter the outside of the
MLC
cell. As a result, the dynamics of water flows
(duration: 2020 – 2024)
in and out of the cell are severely disturbed,
Our brains consist largely of salts and water.
which in turn disrupts the volume regulation.
The precise distribution of these components
These discoveries ensure that they increasingly
is essential for normal brain activity. In the rare
understand which processes are disrupted in
white matter disease MLC (Megalencephalous
MLC. This gives new direction to the search for
Leukoencephalopathy with Subcortical Cysts)
therapy for this rare brain disease.
Rare Diseases Fund | Annual Report 2022
19
Idiopathic nephrotic syndrome (INS)
the blood vessels in the body play a major role
(duration: 2021 – 2024)
in the course of the disease, and especially
Idiopathic nephrotic syndrome (INS) in children
the cells that line the inner wall of the blood
is a rare condition associated with protein loss
vessels, the so-called “endothelial cells”.
in the urine, decreased protein levels in the
Researchers (Dieneke Schonenberg-Meinema,
blood, and fluid accumulation in the tissues.
Emma Children’s Hospital, and Sylvia Kamphuis,
In the Netherlands, this disease is diagnosed
Sophia Children’s Hospital) will be the first in
in about 40-60 children per year. Under the
the world to measure multiple ‘endothelial
leadership of Dr. Antonia Bouts, pediatrician-
markers’ in a large group of children with SLE.
nephrologist from the Emma Children’s Hospital
They expect to find endothelial markers that
in Amsterdam, the LEARNS study looks at
contribute to the development of premature
whether adding levamisole to the standard
atherosclerosis at an early age. As a result, they
treatment with prednisolone can cure more
would be able to detect that group of young
children and cause less relapse of the disease.
people with SLE who have a high risk of
In addition, the immune system is investigating
cardiovascular disease at an early age, and
how the clinical picture arises and how
timely intervention could be taken to prevent
levamisole intervenes (Immunomics). This
heart and cerebral infarctions. In addition, the
research is done at the Immunopathology
researchers expect to be able to discover a
laboratory under the direction of Prof.
difference between inflammation in the vascular
Sandrine Florquin. Cells are isolated from
wall due to the disease itself (SLE) or as a result
patients’ blood and plasma is stored. Using
of the side effects of prednisone.
3 different techniques, it is investigated what kind of cells they are, how active they are and
Completed investigations:
how they are genetically programmed. The first analysis of the results shows that INS patients
Sepsis in premature babies
have more T cells and plasma blasts (early
(duration: 2020 – 2022)
effector B cells) in their blood than healthy
‘’Rapid diagnosis of sepsis in newborns’’.
children of the same age. Furthermore, they
Sepsis in newborn children, also called blood
see that both B- and T-cell frequencies decrease
poisoning, has serious consequences; Some
under prednisolone treatment and increase
of the children die and a large part of the
again with a relapse. The researchers are
children who survive have residual damage.
currently busy analyzing the effect levamisole
Unfortunately, it is precisely in this group of
has on the immune system of the patients.
children that the symptoms of sepsis are very
They already see a trend where levamisole gives
non-specific. In addition, there is no good test
an extra immune suppressive effect on many
yet to be able to make the diagnosis quickly,
subsets of the immune system.
so that faster treatment is possible. For these reasons, the diagnosis is often made at a late
20
SLE (Systemic Lupus Erythematosus)
stage, which is very unfavorable for the
(duration: 2021-2023)
prognosis. The research team of the Amsterdam
Systemic Lupus Erythematosus (SLE) is a serious,
UMC, in collaboration with several hospitals in
lifelong autoimmune disease that occurs mainly
the Netherlands, is investigating whether they
in young women between 15-40 years of age.
can quickly make the diagnosis with a new
In childhood, SLE is more severe than in adults
microbiome rapid test and a biomarker in the
at greater risk of organ damage. In SLE patients,
blood (Presepsin). Already collected stool
samples have been analyzed this year. It turned
can be a possible addition in making the sepsis
out to be possible to predict the occurrence of
diagnosis faster (hours). The marker seems to
sepsis with high accuracy using a rapid test
increase in sepsis at an earlier time after birth
(IS-pro) in the stool, even a few days before
and seems to be able to distinguish between
there were clinical signs. In addition to stool
sick and not sick, especially in premature
samples, blood samples were collected for this
children. The first analyses with the IS-Pro on
study. In parallel with the biomarkers in the
blood indicate that this new test appears to be
stool, it is being investigated whether
reliable and useful for detecting sepsis at an
biomarkers in the blood (Presepsin) or the
early stage. The researchers are currently setting
molecular rapid test (IS-pro) in the blood can
up research with the aim of national implemen-
detect the disease more quickly. The results of
tation of this rapid test.
the study on Presepsin show that this marker
New studies Vestibular Schwannoma Soft tissue sarcomas With the fruit fly in search of treatment of North Sea disease Marshall-Smith Syndrome
Duration 2022 – 2024 2022 – 2023 2022 – 2023 2022 – 2023
Ongoing research Childhood leukemia Penile carcinoma Early Onset IBD Marfan HLH Sickle cell disease FAMMM MLC Idiopathic nephrotic syndrome (INS) SLE (Systemic Lupus erythematosus)
2021 – 2024 2021 – 2023 2021 – 2024 2021 – 2024 2021 – 2023 2021 – 2023 2021 – 2024 2020 – 2024 2021 – 2024 2021 – 2023
Completed investigations Sepsis in premature children
2020 – 2022
Rare Diseases Fund | Annual Report 2022
21
Jan Lammers ZZF rally in pictures Record revenue 16th edition Jan Lammers ZZF rally to enable research into rare diseases START VLIEGBASIS VOLKEL
22
LUNCH IN HET KOETSHUIS OP HET LANDGOED VAN ANNEVILLE
FINISH PORSCHE CENTRUM ROTTERDAM
Rare Diseases Fund | Annual Report 2022
23
Highlights February
Exclusive opening of Naturalis
International Rare Disease Day Rare Disease Day “How so rare?” On 28 February, patients, doctors and researchers worldwide will draw attention to rare diseases. Rare diseases are more common than you think, they affect more than 1 million Dutch people. There are more than 7,000 different rare disorders and syndromes. These are often serious conditions without effective treatment. Because of the misunderstanding that few people are affected, the rare disorders receive too little attention in healthcare policy. The need to put the rare diseases in the spotlight is symbolized by putting globally known buildings and bridges, as so-called “Chain of Lights”, in the spotlight. In the Netherlands, Soestdijk Palace is highlighted in the colours that are
Friday evening, February 11, Naturalis
an international symbol of rare diseases. In
Biodiversity Center in Leiden opened its doors
collaboration with Sanofi and Spieren voor
especially for fellow sufferers of the Rare
Spieren, the Rare Diseases Fund drew attention
Diseases Fund. It was unique to be able to visit
to rare diseases through a short film, together
this great museum in the evening in peace.
with ambassadors and child patients. This
The volunteers of Naturalis took all the time to
light is for YOU! Thanks to Soestdijk Palace,
explain all the impressive things to see and
Madeleen Driessen, Sjaak Bral, Estavana
experience. Everyone enjoyed it and all the
Polman, Rafael van der Vaart, Genzyme,
sweet reactions were heartwarming. Great
Sanofi, VSOP.
beautiful museum, recommended for everyone. Thank you Naturalis for making this evening possible. Made possible by the VriendenLoterij.
24
2Create Memories; Second film of a 3-part film on rare diseases “I have metastatic bone cancer and I’m not getting better” One day you will hear that cancer cells have spread in your body that cannot be removed. What does that mean? When will the cancer grow again? How long do I have to live? Questions you don’t want to deal with when March
you’re 33. Unfortunately, it is the daily reality for
Great collaboration with Center Parcs
Suzanne Franssen from Hengelo. Suzanne likes
The kick-off of the official partnership with
cancer and I’m not getting better; I’m a ticking
the Foundation of Groupe Pierre & Vacances
time bomb.” Confronting, but she prefers not
and Center Parcs Nederland was celebrated
to mince words. Thanks to a great collaboration
with 20 families from ZZF. They were guests at
with the Favendo Foundation, 2 Create Memo-
the Limburgse Peel park the weekend of 25
ries was able to travel to Suzanne in March to
to 27 March. To top it all off, they also visited
record her story. A memory of her when she is
Amusement Park Toverland. With the collabora-
no longer there.
to say what it says: “I have metastatic bone
tion, Center Parcs also supports the foundation financially with a sum of € 15,000,-. That will be spent on research. We can also count on the commitment of employees as volunteers. Terrific!
The ZZF supports the research into sarcomas and that is why Suzanne tells her story. The Rare Diseases Fund is especially grateful to Suzanne for sharing her poignant story. The collaboration with 2 Create Memories and The Favendo Foundation is very valuable to us.
Rare Diseases Fund | Annual Report 2022
25
April
Annual peer contact day in Ouwehands Zoo On Saturday 23 April, the Rare Diseases Fund was a guest at Ouwehands Zoo Rhenen. Families, who suffer from a rare disease, were invited to enjoy a carefree day together. It was
Enchanting day in Toverland
enjoyable! It was a bright day, during which the
On Saturday 26 March, families of the ZZF
children were spoiled with a panda backpack.
experienced an enchanting day at Amusement
This was immediately worn with pleasure.
Park Toverland. One of the first days that could
The sea lion show also gave a splashy party for
be organized again after the impactful corona
everyone. There was a lot of laughter and loud
years. How nice it was to be together with
applause followed. In short, a beautiful day,
other fellow sufferers for the families again.
in which peer contact was warmly embraced.
They hadn’t seen each other in a long time.
Thanks to the John & Marine van Vlissingen
Special thanks to VriendenLoterij and Center
Foundation, JCI Ede and Rotary Leersum who
Parcs for the help of the great volunteers
made this day financially and as volunteers possible.
Mediaplanet campaign on Rare Diseases “1 Million patients with rare diseases. How rare?’ On 1 March, Mediaplanet will launch the Rare Diseases campaign to raise awareness for various ‘rare’ diseases. Available as an appendix in De Telegraaf and online at Planet Health. The importance of early diagnosis in patients and what is their future perspective? Read the experience stories of several patients and a ‘critical’ view of a number of medical specialists. “Up to ten times a day”, Rianne and her two children have Ehlers-Danlos syndrome (EDS), a collective name for a rare group of hereditary connective tissue disorders. EDS is a so-called multisystem disease. This means that the connective tissue of joints. Throughout the body
To the film in WestlandTheater De Naald
there is connective tissue. The story of Rianne
Tuesday morning, April 26, a cinema room was
and her family could be read in this special of
made available especially for the children of the
de Telegraaf.
Rare Diseases Fund where they could watch the
complaints do not only show themselves in the
new children’s film: “The Pirates of Hiernaast 2” plus of course a delicacy.
26
Sjaak Bral & Nienke Rueb surprise ZZF From the hands of Sjaak Bral and Nienke Rueb, the ZZF received a great cheque for € 5,000. We are very happy with this, thank you very much! With the sale of the Harrie collection box in The Hague, this nice amount has been raised for ZZF.
May
Unforgettable weekend in the North of the Netherlands A great weekend for families from the Rare Diseases Fund. Friday 13 May we invited 10 Nederland in Emmen. Several families were
Beautiful Louwman Museum receives ZZF families
invited to a fun day at Wildlands Adventure
Families of the Rare Diseases Fund were allowed
Zoo on Saturday, May 14. Relax with the family
to visit the beautiful Louwman Museum in The
and meet fellow sufferers. Everyone could enjoy
Hague during the month of June. See the
a warm welcome with drinks and goodies,
amazing collection of cars with the whole
many families immediately visited each other
family; A walk through history. In addition
in the beautiful theater. The Jim’s Jungle show
to enjoyment, it is also educational, because
also provided a lot of fun. There was singing,
through a treasure hunt the guests discovered
clapping and listening attentively. Thank you
more about the background of the beautiful car
VriendenLoterij and Stichting TaylorKids4Kids
exhibitions.
families to stay at Parc Sandur of Center Parcs
for making this heartwarming day possible for all these lovely families. June
Thrift store “De Kring” Reeuwijk A donation from an unexpected source. Thank you Thrift Store “De Kring” Reeuwijk for your nice donation to the Rare Diseases Fund Foundation.
Rare Diseases Fund | Annual Report 2022
27
August
Heart wish fulfilled: A woman from Naaldwijk with Osteogenesis Imperfecta, brittle bone disease, gets garden metamorphosis from TK Bouw. So positive despite the fact that you break something at the slightest, her caretaker thought she could use a helping hand. A garden bench made to measure and especially at height; A standard sofa is often too high or too low. Level the tiles July
outside because otherwise they could fall. And
Nature and relaxation
a fence that had blown over after a storm and
The Rare Diseases Fund Foundation had a great
needed to be renewed. TK BOUW took care of
day in the Hoge Veluwe National Park. Guests
a number of chores for this woman around
could take the tram through the park, do a tour
her house, so that she runs as little risk of
with (adapted) bicycles and walk along with
breakages as possible. She was extremely
a guide. Walking and cycling with the guides
grateful!
made this edition extra special! Everyone had a good time, the sun was shining and we only saw happy faces. Thank you to all donors who made this day possible: Ars Donandi, Van Leeuwen Van Lignac Foundation, Elise Mathilde Fund Foundation, VriendenLoterij and its participants.
Port Zélande makes cottages available 20 families were able to enjoy a week of carefree this summer. They were guests at Port Zélande in Ouddorp. Thanks to the great collaboration with Center Parcs, we were able to treat some families to a carefree midweek away this week. We are very grateful to Center Parcs and Team Port Zélande for this!
28
One week Villa Pardoes
September
Families of the Rare Diseases Fund Foundation
Golf, Vino & Oysters for charity
were guests at Villa Pardoes for a very nice and
At hitland golf course, money was raised for
carefree week. Thanks to the fantastic team of
charity for 2 days during the annual golf
Villa Pardoes, the weather was unforgettable.
tournament. Hitland Golfweek is organized by
Thanks to the Cornelia Foundation, this week
the Rotterdam Charity Club, in collaboration
has been made possible for children with a
with Golf Course Hitland and Hit food & drinks,
serious rare disease, thank you very much
2 days ‘Golf, Vino & Oysters’. The Rare Diseases
for this!
Fund Foundation was one of the 3 charities.
October
Record yield 16th edition Jan Lammers ZZF rally We are very proud of this great proceeds of net € 185,000 for the Rare Diseases Fund. It was Hole 18 was special, where the participants
a fantastic rally day, where the sun made it
could try to hit a rubber duck – symbol for the
complete at the right times. Nice routes have
Rare Diseases Fund Foundation – on a boat in
been driven, great cars and people together.
the lake. That was not easy, but one of the
Thank you to everyone who attended, the
participants succeeded! A successful and
sponsors, the donors, the locations and to all
beautiful event with a cheque of € 10,000
the volunteers.
for the ZZF.
Fraternization & Entertainment in Efteling Saturday 3 September was a beautiful day for all ZZF fellow sufferers who were invited to enjoy a carefree day. We welcomed 1,000 guests on the peer contact day in Efteling. Only happy faces and the sun was shining brightly. A heartwarming day to enjoy with the family and with the friends made during the ZZF peer days. It is extremely valuable that we can organize these days with the help of many sponsors, VriendenLoterij, Efteling and Stichting de Lichtboei.
Rhoon is driving a rally Ronde Tafel 154 Rhoon has organized a very successful 1st edition of the Rhoon rally. It was a great day, a nice route was driven with all very nice cars together. Thank you to all participants, sponsors and RT154 for making this rally day possible and the great proceeds for the ZZF.
Rare Diseases Fund | Annual Report 2022
29
children with a rare disorder. The RT ensured that all children from a shelter in Westland could come to de Naald. A well-kept morning with popcorn and a drink where all worries could be forgotten for a while. The Rare Diseases Fund and their guests are very grateful for this morning and for the cooperation with RT Westland! Thank you!! December
National Volunteer Day December 7 is National Volunteer Day. On our social media channels we like to put all our volunteers in the spotlight. They are of course top performers for us all year round! Without them we could not organize the beautiful events and peer contact days. The Jan Lammers ZZF rally, visit to Ouwehands Zoo, to Toverland, to Dierenpark Emmen and the great stays in Center Parcs. The warm heart they have for the ZZF is very valuable. We are extremely grateful to them and hope to be able to count on all
Westland movie morning During the autumn holidays, a helping hand was literally given to very young patients of the Rare Diseases Fund Foundation by Round Table Westland no. 97. Round Table Westland consists of young enterprising Westland men up to the age of 40. For more than half a century, close friendships have developed within this self-renewing membership, knowledge and experiences are frequently exchanged and beautiful service projects are organized. RT Westland is selflessly committed to regional charities. RT Westland raises money with various actions, the proceeds of which go to a charity or a beautiful activity. After the successful first edition of a movie afternoon in 2018, Ronde Tafel Westland organized a movie morning together with the Rare Diseases Fund in WestlandTheater de Naald. In the Rabozaal, the Dutch awardwinning movie Knor was shot for Westland
30
that great effort again in 2023.
With ZZF to Center Parcs “De Huttenheugte” In the week from Monday 12 to Friday 16 December 2022, a number of families with a rare disease were allowed to visit this beautiful park in Drenthe. During this visit, the families also visited Plopsaland. We are once again extremely grateful to Center Parcs Nederland. Wonderful end to a beautiful year.
Would you like to support the Rare Diseases Fund by setting up an action yourself? We think that’s fantastic! How about a
On a special page, as a Facebook user,
sponsor run at your own sports club? Or
you can enter for what purpose you want
a herring party or neighborhood party
to raise money, who you want to reach,
with activities? Perhaps a playful action
what action you set up and you can also
at school, or perhaps you can ask for a
link a target amount to it.
contribution to the ZZF as a birthday or wedding (day) gift? We are happy to
The fundraisers are public, but only
help you develop your idea.
Facebook users can leave a donation. It’s very easy; You reach a large target
A collection box, posters and flyers and
group and you can promote the action
your own action/donation page on the
by means of photos, videos and text.
ZZF website are at your disposal. Or start a donation campaign via Facebook’s new
We are very grateful to you for thinking
platform.
along with the ZZF and setting up your actions: Joyce, Wendy, Robert and
Start a donation for the ZZF using the
Madelief! Do you set up the next action?
fundraiser button on Facebook All support is welcome! Like many others, don’t ask for a birthday gift, but a donation to charity.
Danielle@zzf.nl
Facebook makes it possible to raise
0031 636488272
money for charities, including the Rare Diseases Fund.
Rare Diseases Fund | Annual Report 2022
31
Wishes from the heart In 2022, a record number of Heart Wishes was
important to keep moving and that she can go
received by the Rare Diseases Fund. Fortunately,
from A to B independently. We are very happy
in collaboration with the Friends Fund of the
that this wish could also be fulfilled.
VriendenLoterij, we were able to make some families very happy. For this we thank the
Jill with Ehlers Danlos Syndrome suffers enor-
participants of the VriendenLoterij. Thanks
mously from heat. The house heats very quickly,
to participation, money is made available for
up to 40 degrees, even when the sun is shining
charities with which particularly beautiful and
with 25 degrees and she is very bothered by this.
important days, research and heart wishes can
She has difficulty regulating heat because her
be realized for everyone who can really use a
nerves do not function properly due to the bad
helping hand.
connective tissue, so she cannot sleep in her own small room in the summer. With adjustments
Veerle turned 18 in 2022 and her parents
(split air conditioning), made possible thanks to
wanted to make her very happy with a new
the check from the Friends Fund, Jill can sleep
adapted electric bike that she needs for freedom
through her own bed in her own room again.
because of her disability. She is and remains 1.30
32
meters and therefore a bicycle had to be made
Luna & Kenji both have Ehlers Danlos syndrome
to measure. For everyone, including Veerle, it is
and the 9-year-old son also has epilepsy. It some-
times doesn’t seem to stop with the diagnoses.
The Heart Wish for Danis was from his parents
All these diagnoses cause pain, fatigue,
to be able to continue cycling with him. He’s
hospitalizations and care. And for the son also
getting heavier and heavier riding with him.
an infusion with white blood cells every month
With an electric tandem they are greatly
so that his immune system is activated. A bath
helped and we hope for many beautiful rides
provides more relaxation and less pain. This
on the bike.
means that the children can find more peace and hopefully have a little more energy left for other things such as playing and learning. With the help of the Friends Fund of the VriendenLoterij this wish became possible! A special rocking bed was requested for Anand, a rocking bed with a roof for the garden where Anand can lie and rock with his sister. Anand was healthy until he was 10 and his sister misses her big healthy brother greatly, being able to cuddle together on the new rocking bed is a dream come true!
Rare Diseases Fund | Annual Report 2022
33
In the media The Rare Diseases Fund appeared in the media
Radio & TV
several times in 2022. The goal of media
A new trend is podcasts, we have now recorded
attention is to create awareness about rare
a first podcast in which we tell something about
diseases, to get more participants for our
the Rare Diseases Fund Foundation.
events and to raise more donors, companies and funds. A striking national campaign for
Social Media
the Rare Diseases Fund helped us with this.
Social Media is a means of communication that is a pleasant option from a cost and speed point
Newspapers and digital
of view. It is nice that our followers and likers
The Rare Diseases Fund has collaborated on
support us, like and share our posts. The ZZF
specials on rare diseases, for example with
is active on Facebook, Instagram, LinkedIn and
regard to Rare Diseases Day: a special of
Twitter.
PlanetHealth (Mediaplanet) was published as an appendix to de Telegraaf on 1 March 2022.
We would like to share with you a selection of the many media attention about the ZZF and
The Noord Hollands Dagblad also gave extensive attention to the Rare Diseases Day. We also send out a newsletter about once every two months.
34
rare diseases.
Rare Diseases Fund | Annual Report 2022
35
Administration The board consists of: chairman Charles Ruijgrok, secretary Monique van Holstein, treasurer Roel Kooi and general board members Bea Haring and Nico Bax. The board meets six times a year. During these board meetings, the fundraising activities and financial results are discussed. Current studies are discussed and new research applications are decided. The directors, the Medical Advisory Board and the Advisory Board are all unpaid and are not entitled to reimbursement of expenses.
Medical Advisory Board:
Advisory Board:
Prof. J. Smeitink
Drs. L.M.L.H.A Hermans
Drs. D.C.D. de Lange
Drs. J.G. Drechsel
Board
Charles Ruijgrok president - director (until April 1, 2023)
Monique van Holstein secretary
Bea Haring general board member
Roel Kooi treasurer
Danielle Nicodem fundraising & events director per April 1, 2023
Yvonne Oberweis part-time governance and project management
Lindsey Ruijgrok-Van Eijk part-time fundraising & events volunteer
Team ZZF
Iselle van Ruijven part-time coordinator, fundraiser & volunteer
36
Nico Bax general board member
Financial Results INDEPENDENT AUDITOR’S STATEMENT To the board of the Rare Diseases Fund Foundation OUR VERDICT
THE AUDITED FINANCIAL STATEMENTS
The summarized financial statements 2022
AND OUR AUDIT REPORT THEREIN
(hereinafter ‘the summarized annual accounts’)
We have provided an unqualified opinion on
of the Rare Diseases Fund in The Hague are
the audited financial statements 2022 of the
derived from the audited annual accounts 2022
Rare Diseases Fund Foundation in our audit
of the Rare Diseases Fund Foundation. In our
report of 25 May 2023.
opinion, the summarized financial statements, as included on pages 38 to 41, are consistent
RESPONSIBILITIES OF THE BOARD FOR THE
in all material aspects with the audited financial
SUMMARIZED FINANCIAL STATEMENTS
statements 2022 of the Rare Diseases Fund
The board is responsible for preparing the
Foundation.
summarized financial statements.
The summarized financial statements consist of:
OUR RESPONSIBILITIES
•
The balance sheet as at 31 December 2022
Our responsibility is to provide an opinion as to
•
The statement of income and expenses
whether the condensed financial statements are
for 2022
consistent in all material matters with the
The cash flow statement for 2022
audited financial statements based on our work,
•
conducted in accordance with Dutch law, SUMMARY FINANCIAL STATEMENTS
including the Dutch Standard 810 “Assignments
The summarized financial statements do
to report on condensed financial statements.”
not contain disclosures that are required on the basis of RJ Directive 650 ‘Fundraising
‘s-Hertogenbosch, 25 May 2023
organisations’. Taking cognizance of the summarized financial statements and our
Rademaker Audit B.V.
statement thereon cannot therefore replace the inspection of the audited financial statements
Was signed,
of the Rare Diseases Fund Foundation and our
B.T.S. Bernecker RA
audit report thereon. The summarized financial statements and the audited financial statements do not reflect events that have occurred since the date of our audit report of 25 May 2023.
Rare Diseases Fund | Annual Report 2022
37
BALANCE SHEET as of December31, 2022 (After income recognition)
ACTIVE
2022 2021
(in euro’s)
FIXED ASSETS Properly, plant and equipment
6.428
6.315
SUM OF FIXED ASSETS
6.428
6.315
CURRENT ASSETS accrued assetsa
61.480
135.112
Cash and cash equivalents
1.016.828 1.084.882
SUM OF CURRENT ASSETS
1.219.994 1.219.994
TOTAL
1.084.736 1.226.309
PASSIVE
2022 2021
(in euro’s)
RESERVES AND FUNDS Reserves Other reserves*
-39.399
117.684
Continuity reserve
75.000
75.000
Earmarked reserves
502.748
132.807
538.349
325.491
299.553
301.827
Funds
837.902 627.318 CURRENT LIABILITIES AND ACCRUED LIABILITIES
246.834
598.991
TOTAL
38
1.084.736
1.226.309
STATEMENT OF INCOME AND EXPENSES BATES
Realization 2022
Budget 2022
Realization 2021
Income individuals
27.137
25.000
75.295
Benefits companies
39.498
37.500
41.907
Income lottery organizations
126.672
125.000
345.773
Income other nonprofit organizations
501.608
495.000
417.654
Sum of benefits reaised
694.915
682.500
880.629
Income in return
234.937
200.000
169.590
Interest income
0
0
0
929.852
882.500
1.050.219
Realization 2022
Budget 2022
Realization 2021
Investigations
250.400
218.300
516.980
Fellow Contact Days
201.857
200.000
135.724
Other objectives
15.067
10.000
46.882
(in euro’s)
EXPENSES (in euro’s)
SPENT ON OBJECTIVES
Information Personnel and general expenses objectives
2.932
2.500
1.997
102.258
100.000
101.034
572.514
530.800
802.617
FUNDRAISING COSTS Recruitment costs
99.080
102.500
99.035
99.080
102.500
99.035
19.110
20.000
20.149
MANAGEMENT AND ADMINISTRATION Personnel expenses Deprociation expense
2.666
2.700
2.382
Office costs
25.898
26.500
30.286
47.674
49.200
52.817
TOTAL EXPENSES
719.268
682.500
954.469
BALANCE OF INCOME AND EXPENSES
210.584
200.000
95.750
Rare Diseases Fund | Annual Report 2022
39
STATEMENT OF INCOME AND EXPENSES Realization 2022
Realization 2021
30.740
130.679
0
-19.247
108.452
0
Appropriated reserve for Leukodystrophy
99.410
0
Appropriated reserve for heel prick screening
100.000
0
Appropriated reserve for Gyrate Atrophy
30.000
0
Appropriated reserve Pitt Hopkins
1.339
0
-157.083
-40.412
Continuity reserve
0
0
Earmarked Children’s Leukemia Fund
0
-75.000
Designated fund IBD
0
-5.000
Destination fund FAMMM
0
-15.000
HLH earmarked fund
0
-5.000
Earmarked fund IPS TB Peniscarcoma
0
-25.553
-38.929
32.829
0
-25.700
(in euro’s)
RESULT APPROPRIATION Appropriated Research Reserve Earmarked Reserve for Peniscarcinoma Appropriated reserve for NMSOD
Other reserve
Earmarked fund MSS Marfan earmarked fund Earmarked Heart Wishes Fund
1.721
-447
0
-12.437
Earmarked fund Family days/activities
-7.563
-75.223
Destination fund North Sea disease
-19.090
19.090
Destination fund Pit Hopkins
43.500
7.161
Appropriated fund Gyrate Atrophy
20.000
0
Destination fund Leukodystrophy
0
0
NMSOD earmarked fund
66.000
0
Destination fund Friends Lottery
-83.039
205.000
TOTAL PROFIT APPROPRIATION
210.584
95.740
Destination fund Beach challenge Westland
*The portion of the result earmarked by the board for research is 157,083 higher than the total result the addition to designated funds. The excess was therefore charged to other reserves.
40
CASH FLOW STATEMENT 2022
2021
* Income individuals
27.137
75.295
* Benefits companies
39.498
41.907
* Income lottery organizations
126.672
345.773
* Income nonprofit organizations
501.608
417.654
* Benefits in return
234.937
169.590
0
0
* Fundraising expenses
-99.080
-99.035
TOTAL INCOME
830.772
951.184
MANAGEMENT AND ADMINISTRATION EXPENSES
-47.674
-52.827
(in euro’s)
INCOME/EXPENSE FROM OWN FUNDRAISING
* Interest income
Adjustments for: * Depreciation
2.666
2.382
* Changes in working capital - movement in receivables - movement in current liabilities
73.632
49.884
-352.157
186.356
-278.525
236.240
CASH FLOW FROM OPERATIONS ACTIVITIES
507.239
1.136.989
Investments/disinvestments in tangible fixed assets
-2.779
1.162
CASH FLOW FROM INVESTMENT- ACTIVITIES Remittance to be spent on objectives
-2.779
-1.162
-572.514
-802.617
-572.514
-802.617
CASH FLOW FROM FINANCINGACTIVITIES Net cash flow (change in cash and cash equivalents)
-68.054
333.210
Initial cash position
1.084.882
751.672
ENDING CASH POSITION
1.016.828
1.084.882
Rare Diseases Fund | Annual Report 2022
41
Looking forward We started 2023 full of enthusiasm and energy with a valuable peer contact day. For the second year we were guests at Naturalis. The number of guests had almost doubled compared to the previous year! It is a luxury to attend this special evening opening in peace and with so many great volunteers around you. Chapeau to all guests, volunteers and team Naturalis. After such an event, we as a team always reflect on life and that only the sun rises for nothing. The team is therefore perhaps even more eager than ever to make 2023 even more successful than the years before. Nothing is impossible is our motto and that is why we continue to write to funds and companies for support, for research, for peer contact days and to continue to draw attention to rare diseases! Because rarely sick, you’re not in your duck(t)je! Will you help? Team ZZF
42
Stichting Zeldzame Ziekten Fonds Cornelis de Wittlaan 39 2582 AB Den Haag