#Rare Diseases

[thesecretlifeofmecfs]

It doesn't help when doctors repeatedly do very little to actually help you.

When you have to go into each appointment having to explain your condition and educate the doctors.

When doctors consistently don't know what to do to help you.

When doctors gaslight you.

It's exhausting.

I'm so tired.

[a113cowgirl]

I had 3 doctors appointments in the last week AND a call/long conversation with my case manager/care plan manager, and she’s doing her damnest to get me back into palliative care. (For those who don’t know, palliative care is basically hospice for those who aren’t expected to die in the next 6 months.)

Looks like the specialists are finally starting to agree with me… I’m done with trying to find a cure, I’m exhausted from years of surgeries trying to fix the root problem/cause.

I just want to treat the symptoms and try to improve my quality of life as much as I can and focus on comfort and reliving suffering, rather than fighting so hard to fix everything and be cured. I just want to stop suffering so much.

This partially feels like “giving up,” and makes me sad… but the other part of me feels so much relief in finally giving up the fight. I just want to live the rest of my existence in as little pain as possible, and try to prevent more health crises-es and emergencies.

It’s been a lot of years of this… I’m ready to focus on being comfortable and getting my life back a bit. I’m finally coming to terms with that hard conversation a doctor had with me 8ish months ago about “accepting that I will always be disabled” and “coming to terms with a new normal.” At the time, I was so mad at him suggesting that… but now I’m realizing it may be more peaceful for me to go that route. I’m tired of constantly fighting it and spending so much time researching experimental surgeries and treatments to find a miracle cure. I just wanna focus on living.

[spanishroyals]

March 5, 2024. Sevilla, Spain.

Queen Letizia, Honorary President of the Spanish Federation of Rare Diseases, speaks with the people taking part in Rare Disease Day

[macarraqui]

El dios cambiante

Se conoce como síndrome de Proteus (enfermedad de Proteo) a la patología deformante que tenía J. Merrick, papel que interpretó John Hurt en la película de David Lynch El hombre elefante (1980) y a la que pertenece el fotograma que comparto más arriba.

La historia está inspirada en un personaje real que se llamaba Joseph Carey Merrick, un ciudadano británico que vivió en el siglo XIX y que se pasó la mayor parte de su vida mostrando sus deformidades en circos, ferias de exhibición y paradas de los monstruos.

El síndrome se caracteriza fundamentalmente por producir el crecimiento desproporcionado y asimétrico de una o de varias partes del cuerpo. La enfermedad tiene una prevalencia muy baja en la población, por lo que se encuadra en el grupo de enfermedades raras o minoritarias, que son aquellas que aparecen en menos de 5 casos por cada 10.000 habitantes. Su diagnóstico se realiza mediante estudios genéticos (que buscan una alteración cromosómica determinada) y no tiene tratamiento específico, aunque hay cirugías ortopédicas y plásticas que pueden ayudar en sus diferentes etapas, además del papel de la fisioterapia y de la rehabilitación.

Este síndrome no es el único caso de enfermedad minoritaria que hemos visto en el cine. En la película Máscara, de Peter Bogdanovich, el protagonista sufría leontiasis ósea. Y en la maravillosa El aceite de la vida, que protagonizaron Susan Sarandon y Nick Nolte, el niño presentaba adrenoleucodistrofia, otra de las enfermedades incluida en este grupo.

[weird-grrrl]

Ever since I was a young girl, I knew I wanted to be extremely stressed out about contracting rare diseases

[karistina]

I wrote this last year. I didn't have the energy to write up something new for this year, even though I have at least one new rare disease diagnosis, possibly more than one. (I'd have to look up whether or not some things are considered rare.)

Please read and spread the word about rare diseases! Feel free to comment/reblog to share your own rare disease diagnoses.

[elanor-n-evermind]

Please take action and sign. Cost nothing!

A few minutes can make a huge difference!

Senate Bill 1408/House Bill 4619, legislation that would create a Rare Disease Advisory Council (RDAC) in Texas, has been introduced. Once enacted, this Council will give rare disease patients, families, caregivers, providers, and other stakeholders an opportunity to make formal recommendations to state policy decision makers on how to improve public policy for our community. Contact your state lawmakers today to ask that they cosponsor and support this important legislation!

[questioningdragons]

Apparently it is international rare disease day, so I'm going to talk about the parahemophilia that runs in my family.

You've probably heard of hemophilia, but probably didn't know that it is just one of a family of clotting conditions. Your blood contains a bunch of different factors which are needed for the process of clotting. If you are low on any one of them, it's going to cause problems and increased bleeding. With hemophilia you are deficient in factor 8. Because the gene that causes this deficiency are found on the X chromosome, hemophilia is more common in people with xy chromosomes.

Para-hemophilia, on the other hand, is a deficiency in factor 5. Symptoms are still increased bleeding (think nosebleeds, cuts that bleed longer than you'd expect, excessive bruising, heavy menstrual periods, etc.), but the inheritance is autosomal recessive--meaning the gene responsible are located on non-sex cell, and you need one from each parent to be diagnosed with the disorder.

Factor 5 deficiency is also incredibly rare. Hemophilia.org estimates the incidence at 1 in 1 million, with fewer than 200 cases documented world wide. My brother and paternal grandma* are two of them.

My family is lucky, as both seem to have fairly mild cases. They just have to be a little extra careful with things like surgery. There are medications that can decrease bleeding. And of course, we all need to be aware that this is a genetic disorder. Simple genetics tells us that both my parents are carriers. By extension, all of my dad's siblings are as well. My mom suspects that her estranged brother either has the disorder, or has lower than typical levels of factor 5 due to being a carrier, based on his excessive childhood nosebleeds. I have been tested, and found to be a carrier, but I do not plan to have children. My other brother has never shown symptoms, so we don't actually know if he's a carrier or not--statistically, he has a 25% chance of not having the defective gene at all. And then, of course, if my brother with parahemophilia has children in the future, they will need to be tested too.

This description gives a good rundown of how having a clotting factor deficiency causes problems, as well as how they are treated.

*Grandma actually also has a factor 7 deficiency. While this disorder seems to be more common in the world, it does not seem to have been passed down in my family. With the two disorders combined she had to have blood transfusions after at least two of her children were born.

[ghostofpolaris]

Got diagnosed today with Pseudoxanthoma Elasticum (PXE) after fighting for years and uh, idk where to go with it now. It's genetic and explains why my eyes are fucked I guess.

[cinemaquiles]

DRAMAS SOBRE DOENÇAS RARAS QUE VOCÊ PRECISA CONHECER OU REVER!

[healthy-gossips]

BRAIN TUMOR

HomeDISEASESWhat is brain tumor|| Symptoms of brain tumor|| Types of brain tumor|| Treatment of brain tumor

What is brain tumor|| Symptoms of brain tumor|| Types of brain tumor|| Treatment of brain tumor

M.Ubaid AbidJuly 28, 2022

 BRAIN TUMOR

Brain tumor is the result of cancer cells growing in your brain. Cancer cells form tumors that can be slow or fast growing depending on the type of tumor.

Brain tumor treatment focuses on removing the tumor and then destroying the remaining cancer cells. New developments in Brain tumor treatment have improved Brain tumor survival, especially for slow-growing tumors.

This article will give you an overview of Brain tumor and brain cancer, the symptoms to be aware of, and current treatment options.

What is Brain tumor?

Primary Brain tumor, also known as Brain tumor, is an overgrowth of cells in your brain that form masses called brain tumors. This is different from cancer that starts in another part of your body and spreads to your brain. When this happens, it is called secondary or metastatic Brain tumor.

Some types of Brain tumor grow very quickly. These cancers can interfere with how your body works. Brain tumors can be life-threatening and should be treated as soon as they are detected.

Brain tumor is rare. The American Cancer Society estimates that people have less than a 1 percent chance of developing Brain tumor in their lifetime.

What are the symptoms of Brain tumor?

 Side effects of cerebrum malignant growth rely upon the size and area of the mind cancer.Brain tumor has many symptoms with many less serious conditions, especially in the early stages.

Many of these symptoms are very common and may not indicate Brain tumor. But if you experience these symptoms for more than a week, if they come on suddenly, if over-the-counter medications don't help, or if you're worried about any of them, it's a good idea to get them checked out by your doctor.

Common symptoms of Brain tumor are:

• a headache that is usually worse in the morning

• nausea

• vomiting

• lack of coordination

• lack of balance

• difficulty walking

• forgetfulness

• difficulty thinking

• speech problems

• vision problems

• personality changes

• abnormal eye movements

• muscle tremors

• muscle tremors

• unexplained dizziness or syncope

• drowsiness

• deadness or shivering in the arms or legs

• attacks

The prognosis of Brain tumor is greatly improved by early detection. If you experience any of the above symptoms regularly or think your symptoms may be more severe, see a doctor as soon as possible to get them evaluated.

Causes and risk factors of Brain tumor

The specific reason for essential cerebrum malignant growth is obscure. Yet, studies have shown a connection between openness to high portions of ionizing radiation and an expanded gamble of mind malignant growth. Most common sources of ionizing radiation come from routine medical imaging tests (CT scans, X-rays), radiation therapy, and possible occupational exposures.

Other risk factors that may be associated with developing Brain tumor include:

• increased age

• family history of Brain tumor

• long-term smoking

• exposure to pesticides, herbicides and fertilizers

• work with elements that can cause cancer, such as lead, plastics, rubber, oil and certain substances

• you have an Epstein-Barr virus infection or mononucleosis

Secondary Brain tumor, a type of Brain tumor that occurs when cancer that started in another part of your body has spread to your brain, is more likely to be caused by certain types of cancer than others. Cancers that commonly spread or metastasize to the brain include:

• lung cancer

• breast cancer

• kidney cancer

• bladder cancer

• melanoma, which is a type of skin cancer

CONTINUE READING

[gornwen]

To celebrate Disability Pride, I took two (2) naps at work.

[tfshealthscience]

TFS HealthScience Rare Diseases and Orphan Drugs has worked with a wide variety of compounds, including small molecules and biologics, across all phases of clinical development and real-world evidence studies. Contact us today!

[spanishroyals]

Telematic speech by Queen Letizia to the UN to promote a 2024 World Health Organization resolution for universal healthcare coverage for people with rare diseases.

At a high-level meeting at the United Nations Headquarters today, UN member states gathered to accelerate progress towards achieving universal health coverage by 2030. In conjunction with this momentous occasion, Rare Diseases International (RDI), EURORDIS – Rare Diseases Europe, Ågrenska and Federación Española de Enfermedades Raras (FEDER) held a formal side-event to emphasize the vital importance of including the rare disease community in UHC.

The event, entitled "A Blueprint for Leaving No One Behind," was co-organized by the Permanent Missions of Spain and Sweden to the UN and the Ministry of Public Health of the State of Qatar to underline the message that universal health coverage cannot be truly universal unless it meets the needs of the 300 million people worldwide living with a rare disease.

https://www.newswire.ca/news-releases/canadian-organization-for-rare-disorders-supports-call-on-united-nations-member-states-to-turn-universal-health-coverage-into-a-reality-for-people-living-with-rare-diseases-854549362.html

[markettrends1234]

Duchenne Muscular Dystrophy (DMD) Therapeutics Market Trends and Growth Analysis 2023-2027 

The Duchenne Muscular Dystrophy (DMD) Therapeutics Market is set to increase by $2,397.67 million, growing at a 21.2% CAGR between 2022 and 2027. The high costs are due to complex production and substantial R&D expenses. To mitigate these costs, several governments and healthcare organizations have launched patient assistance programs. These programs are expected to foster better treatment adherence and drive market growth.

[frightnightindustries]

Is your mental disorder/neurodivergence linked to a genetic syndrome/anything of that type?

EG:

If so, please do specify.