Rare disease patients, with praiseworthy will and admirable determination, teach the

true meaning of courage to the society ./ With all our capacities and potentials, we

will stand by them in order to make them a life with hope and dignity.

Mr. President, emphasising that awareness of challenges which rare disease

patients and their devoted families are faced with, imposes a greater responsibility

on us, clarifies that ; providing vital medicines, access to appropriate healthcare

services, supporting scientific research and providing an infrastructure and a

framework to enhance and facilitate their living conditions , are the responsibilities of

the government and society.

Dr. Masoud Pezeshkian, in his message on the occasion of National Rare Diseases

Day, emphasized the sincere efforts of the Rare Diseases Foundation of Iran and all

physicians, specialists, benefactors, and non-governmental organizations that play

an unparalleled role in serving patients with rare diseases. He stated: The

government will exert all efforts to strengthen and support these rare disease

patients, the Rare Diseases Foundation of Iran, and other related institutions to

provide better services to these dear individuals.

The text of the President’s message is as follows:

In the Name of God, the Most Compassionate, the Most Merciful

Today, in moments when life has tested you with rare and difficult challenges,

speaking to you is both an honour and a profound responsibility for me. You, dear

ones who struggle with rare diseases, are not only symbols of patience and

resilience but also teach us how far human determination can go in the face of

adversity.

Despite all the hardships life has placed in your path, you continue to live with hope,

fight with love, and, with admirable determination, teach society the true meaning of

courage. You are not merely patients of this land; you are valuable human assets

and role models for our society.

Undoubtedly, awareness of the challenges you and your devoted families are faced

with, increases our responsibility toward you. Providing vital medicines, access to

appropriate medical services, supporting scientific research, and creating a platform

that facilitates your lives are the duties of both the government and society. I pledge

to you that the government of the Islamic Republic of Iran will stand by you with all its

capacities so that you can live a life of dignity and hope, free from worry. In this

journey, the Rare Diseases Foundation of Iran, along with all physicians, specialists,

benefactors, and non-governmental organizations, plays an unparalleled role in

serving you. We honour these sincere efforts and will exert all our efforts to

strengthen and support these rare disease patients, the Rare Diseases Foundation

of Iran, and other related institutions to provide better services to you.

Iran is a country that, in its most challenging days, has drawn strength from the

determination of its people and emerged victorious from crises. You, with your

patience, hope, and steadfastness, are part of this noble spirit. We will not allow

difficulties to bend your unwavering resolve. Rest assured that no effort will be

spared in improving the quality of your lives.

This is Iran, the land of compassion, the land of people who never leave their fellow

citizens alone. Together, our hands will form a chain of hope and support. You are

not alone. May we, through our unity, create brighter days for the rare disease

patients of this land.

Masoud Pezeshkian

President of the Islamic Republic of Iran

The International world patient alliance appointed Yasser daoudian, chief of the board of Directors of the Rare Diseases Foundation of Iran, as a member of the Advisory Board of this organization. This organization is made up of patients and patient advocacy organizations around the world and aims to ensure all patients have access to safe, high quality and affordable healthcare in the world. The union has been trying to present the latest achievements in medical science by holding scientific seminars and conferences. It also holds meetings with specialists and leaders of NGOs to access new medical knowledge and uses their experience to improve the conditions of patients in all parts of the world. The rare foundation of Iran hopes that interactions with international societies will reduce the number of patients and rare diseases in the world and provide new treatment facilities for rare patients by updating information about rare diseases and proper communication with the world’s medical societies.

https://www.worldpatientsalliance.org/advisory-board/

In an Editorial,

1
The Lancet Neurology highlights the importance of high-quality health-care
service initiatives, their standardisation, and their transnational evolution for
people with rare diseases. The activism of affected communities themselves,
and the broader value of improved services for rare diseases, as well as more
prevalent conditions, are key aspects of these developments. For many
people with rare neurological diseases, especially those of congenital or early
onset, accompanying comorbidities—such as intellectual, autism spectrum,
and psychiatric disorders—can add to the disease burden. Comprehensive
health care for rare diseases typically requires coordinated action from many
health and social care agencies, with current European Reference Networks
providing standards and guidance.
However, these essential efforts miss a crucial consideration. Across the
European Reference Networks—and indeed in national plans, such as the UK
Rare Diseases Framework—climate change is not mentioned. Anthropogenic
climate change is an enormous worldwide challenge to human health and the
operation of health-care systems, which are themselves major greenhouse
gas emitters. But in influential publications about the effects of climate change
on health care, rare diseases do not feature.
2
Yet climate change will have important, even life-threatening, consequences
for rare diseases. Recognising these concerns, rare disease charities met at
the UK Epilepsy Society in March, 2024, to discuss the effects of climate
change. Representatives of rare disease groups spoke of the concerns they
already have about the effects of climate change. Because of widespread
perceptions that health-care professionals have little influence in this area
(“what can you do about the weather, doc?”), patients, families, and carers
might not voice their concerns to health-care professionals; however, the
problems are real and are happening now.
Rare diseases commonly compromise resilience to change. For people with
ectodermal dysplasias or temperature-sensitive rare epilepsies, for example,
hot weather has always been a challenge, which is now magnified by
heatwaves—the severity and intensity of which are increasing with climate
change. Some rare neurological diseases impair thermoregulation, as can
treatments—such as antipsychotic agents or carbonic anhydrase inhibitors—
that are used in such conditions. Additionally, climate change-related adverse
weather events and unusual, unseasonal temperature fluctuation could
aggravate rare diseases, for example by disturbing sleep or disrupting therapy
supply chains. Weather-health alerts are not tailored to those with rare
diseases and could be meaningless if the necessary responses are
unfeasible.
Although rare diseases are already burdensome to the people who have
them, their care network, and health-care services, we cannot ignore the new,
superadded threats from climate change: rare disease research and
management must happen in the context of climate change. Many immediate
actions are possible to help to protect those with rare diseases, such as
informing carers of particular risks associated with a given condition and
following governmental guidance on simple measures, such as avoiding going
outdoors during the hottest hours of the day.
3
Moreover, people with more prevalent conditions can learn from adaptations
that are already used by those with rare diseases as a result of their
experience with environmental challenges. Action is needed now and must
include climate considerations as part of health-care support for people with
rare diseases.
DP is the founder and CEO of the Ectodermal Dysplasia Society. AM has received funding
support from the Engineering and Physical Sciences Research Council, the Natural Environment
Research Council, and the National Institute for Health and Care Research; has consulted for the
Department for Energy Security and Net Zero; and has received honoraria from Elsevier and
Tsinghua University (Beijing, China). CP is an employee of the Epilepsy Society. AM and SMS
received institutional funding for work related to this article from the UCL Grand Challenges
Climate Crisis Special Initiative (award number 156425). SMS received funding from the
National Brain Appeal Innovation Fund.

https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(24)00333-8

By Editorial Team

May 19, 2023

There are many challenges to living with a rare disease. The challenges may be physical, mental, and emotional. Having a rare disease means many people will not understand your health condition or how it affects you. Those living with a rare disease often had never heard of their condition until they were diagnosed with it.

To learn more about the most difficult effects of having a rare disease, we turned to the RareDisease.net Facebook community. We asked, “What is the hardest symptom to manage of your rare disease?” The answers show that people living with rare diseases may have more in common than they realize.

Daily pain

Many rare diseases come with chronic pain, and this pain may be all-consuming and draining. Respondents shared how challenging it is to function with pain. The kinds of tasks and activities they can do depends on their pain levels. And their loved ones struggle to understand this reality of daily pain.

“My friends do not understand what it’s like to hurt and be in this amount of pain.”

“Head and neck pain.”

“The pain. The rest I can just ignore and go on with life.”

Endless fatigue

Fatigue is another hallmark of rare diseases. Fatigue is more than feeling tired. Sleep does not chase it away, and powering through the weariness is often not possible.

Respondents shared frustration with their lack of energy. Daily tasks, planned activities, or friend visits often require too much energy, but missing out feels discouraging.

“The pain doesn’t bother me as much as being constantly tired.”

“Chronic debilitating fatigue.”

“Wanting to go out and do something, but I don’t have the strength to do it.”

“Fatigue breathlessness. I want to do things, but no energy.”

This or That

Which is harder to manage for you, pain or fatigue?

Top of Form

PainFatigue

Bottom of Form

Brain fog

A rare disease may bring brain fog from fatigue, pain, and drug side effects. Brain fog feels like pulling thoughts through molasses. Communicating may become difficult. Many respondents said they forget words, names, or appointments. Losing chunks of their memory and brain function feels frustrating for them.

“Loss of cognition.”

“Remembering to take my medication!”

“Never knowing what memory will elude me at any given moment or which from decades ago will pop up with no provocation!”

Community Poll

Does brain fog impact your . . .

Top of Form

Short-term memory

Long-term memory

Both

Submit

Bottom of Form

Looking fine versus feeling fine

The invisibility of their condition is the biggest emotional challenge for many people living with a rare disease. Their friends and family may not understand their symptoms or grasp their daily struggles. Some respondents said they wrestled with feeling dismissed because they look “normal.”

“Fatigue and looking fine, but feeling lousy.”

“Friends and family that have no clue about it and the result of saying you look like you’re getting along just fine – even though you’ve provided them with all the info.”

“No one sees or feels what you’re going through. Maybe we should stop acting so superhuman to spare THEIR feelings!!!”

“Constant pain and exhaustion but looking fine to everyone.”

“Other people’s perspective.”

Other symptoms

Of course, rare diseases are not all the same. Some symptoms are common between illnesses, and others are not. Different diseases affect different parts of the body in different ways.

While some respondents shared the unique symptoms they experience, it is clear that the emotional effects of these symptoms are similar for many people.

“My fingers and some of my toes are curled under. Very hard to function!”

“Unable to eat food.”

“Depression.”

“Bowel incontinence.”

“Itching.”

“Shortness of breath.”

“The cough.”

“Nightmares, cataplexy, and staying sick for months instead of days.”

http://Community Views: The Hardest Symptoms to Manage

 aim to act as an international group, supporting, informing and networking with anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder and with any interested professionals.

CMTC-OVM is a worldwide non-profit community that aims to improve the quality of life of people suffering from vascular abnormalities (blood vessel abnormalities), such as CMTC, their families, and stimulate scientific research into these disorders.

It is hoped that with the cooperation of this organization, we will take steps towards the awareness and treatment of such rare diseases and patients.

The 4^TH volume of the Atlas of rare diseases of Iran has been published. The Atlas, which was accomplished with the research of the group of the scientific-research council and the Medical Commission of the foundation of rare diseases of Iran, has examined rare diseases in this field as brain and neurological diseases.

The current Atlas will be made available to scientific centers, researchers, medical students and others in order to obtain the necessary information in the field related to its topic.

It is worth mentioning that the foundation for rare diseases of Iran has previously published the Atlas of rare diseases of Iran in the fields of: rare internal diseases, rare genetic and congenital diseases, as well as rare metabolic diseases.

Other important research projects of the Rare Diseases Foundation of Iran include of publishing the first color Atlas of the Rare Diseases at the international scientific level which was made available to the public in 1391