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.

By Natalie Abbott

May 17, 2023

2 min read

Last updated: November 2023

May is Mental Health Awareness Month. Like many in the rare disease community, maintaining my physical and mental health is ongoing work for me.

Recently, I’ve been working to improve the care I give to my mental health and want to share a few of my current takeaways.

5 thoughts about mental health and rare diseases

Some are quite cliche, but I do find them useful to say (or write) out loud during times when I may face challenging mental and physical circumstances.

We all learn to live with our rare diseases and develop amazing coping mechanisms, but sometimes it’s helpful to step back and look at how our mental and physical health are related.

1. This is hard

Living with health challenges, especially rare diseases that are often misunderstood by medical professionals and the public, is hard! What we go through, both physically and psychologically, shouldn’t be disregarded.

Saying that it’s hard isn’t an admission of not being strong, it’s a sign that you’re working on it. Finding allies, either within my rare disease community or outside of it with people who are understanding of the mental and physical health challenges of a rare disease, has changed my rare disease life.

2. Embrace your own coping mechanisms

Honestly, I’ve never understood the literal spoon theory (Why do we start out with so many spoons in the first place? Where do they all come from?) but the idea of only finite physical or mental energy and prioritizing based on that has been life-changing.

I know how much I can schedule based on how I will probably feel and sticking to that schedule is the best way to preserve my physical, and thus my mental, health. Don’t be afraid to share your energy-conservation strategies with others! Once people know you aren’t purposefully cancelling on them, it’s so much easier to schedule (and re-schedule) things that work for your body.

3. Practice self-care (really), whatever that is

I know, I know – self-care is the buzziest of buzzwords in our current world but finding what self-care is for you, in all its potential forms, is so powerful.

For me, self-care can look different depending on how I feel, what I can do, and what else is going on. It’s everything from the proverbial walk with the dog to a meditation app to binge watching mindless but soothing television shows. Finding and sticking to even a changing routine is so valuable.

This or That

Self-care is…

Top of Form

Something I intentionally practiceSomething I haven’t really thought about

Bottom of Form

4. Don’t be afraid to reach out

Once again, this can’t be said enough. Mental health resources are out there and can be so useful. From self-guided programs to individual or group sessions, in person or online, seeking help is never a sign of weakness or an admission that something is “wrong” it’s just another tool to help navigate this rare disease life.

5. It’s okay not to be okay

If you are here it’s probably because you, or someone you are close to has a rare disease. It is totally okay and normal to have mental health challenges with our rare disease health issues, and to have those challenges change over time!

It’s not a reflection on your coping abilities or strength to suddenly have challenges with things you’ve always faced. It just is, and that’s okay.

rarediseases.net

The Iran Rare Diseases Foundation congratulates all Persian speakers and Iranians around the world on the Eid of Nowruz.Happy Nowruz

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