As we kick off another week, we're reminded of the power of community, support, and advocacy. On February 29th, we commemorate Rare Disease Day, a time to raise awareness and support for individuals living with rare and often misunderstood conditions. At Tutti Frutti Women, we believe in the importance of shedding light on these lesser-known diseases, educating ourselves and others, and advocating for equity and understanding for all.
The Significance of Rare Disease Day
On Thursday, February 29th, we will mark Rare Disease Day 2024. This annual observance serves as a global platform to amplify the voices of those affected by rare diseases and advocate for improved access to diagnosis, treatment, and care. The Rare Disease Day campaign returns to its paramount and perennial theme: achieving true equity for the 300 million people across the world who live with a rare condition.
The Zebra and Its Stripes: Symbolism of Rare Diseases
The zebra is the official symbol of rare diseases in the United States and is noted for its black and white stripes, which are central to its uniqueness. Similarly, everyone has their own "stripes," those characteristics that make each individual distinct. Yet, for those living with rare diseases, these stripes may manifest in the form of symptoms, challenges, and experiences that set them apart from others.
Top 13 Most Rare Diseases: Understanding the Diversity of Rare Conditions
Rare diseases encompass a vast array of conditions, each with its own unique set of symptoms, challenges, and implications for affected individuals.
Fibrodysplasia Ossificans Progressiva (FOP)
Fibrodysplasia Ossificans Progressiva (FOP) is an extremely rare genetic disorder characterised by the abnormal formation of bone in soft tissues such as muscles, tendons, and ligaments. This condition causes muscles and connective tissues to gradually ossify, forming bone over time. As a result, affected individuals may experience progressive stiffness, restricted movement, and joint deformities. FOP is often referred to as "stone man syndrome" due to the severe bone formation that occurs, resembling a second skeleton.
Since FOP primarily affects the musculoskeletal system, maintaining a balanced diet rich in nutrients that support bone health may be beneficial. This includes calcium, vitamin D, magnesium, and phosphorus. Additionally, individuals with FOP may benefit from consuming anti-inflammatory foods to help manage pain and inflammation.
Hutchinson-Gilford Progeria Syndrome (HGPS)
Hutchinson-Gilford Progeria Syndrome (HGPS), commonly known as progeria, is a rare genetic disorder characterised by accelerated aging in children. Individuals with progeria typically exhibit features of aging such as wrinkled skin, hair loss, joint stiffness, and cardiovascular problems at a very young age. Progeria is caused by a mutation in the LMNA gene, which leads to the production of an abnormal protein called progerin. There is currently no cure for progeria, and treatments focus on managing symptoms and improving quality of life.
Individuals with progeria may have specific dietary needs to support cardiovascular health and overall well-being. A heart-healthy diet that is low in saturated fat, cholesterol, and sodium, and rich in fruits, vegetables, whole grains, and lean protein sources may be recommended.
Stiff Person Syndrome (SPS)
Stiff Person Syndrome (SPS) is a rare neurological disorder characterised by severe and progressive muscle stiffness, rigidity, and spasms. These symptoms can be triggered by various stimuli such as emotional stress, sudden movements, or loud noises. SPS is thought to be an autoimmune disorder, where the body's immune system mistakenly targets and attacks the nervous system. Treatment for SPS typically involves medications to reduce muscle stiffness and spasms, as well as physical therapy to improve mobility and function.
Since SPS is thought to be an autoimmune disorder, individuals may benefit from an anti-inflammatory diet that includes plenty of fruits, vegetables, whole grains, and healthy fats. Some individuals with SPS may also find relief from symptoms by avoiding certain foods that may trigger muscle stiffness and spasms.
Fields' Syndrome
Fields' Syndrome, also known as alien hand syndrome, is a rare neurological condition characterised by involuntary and uncontrollable movements of one hand, often appearing as if the hand has a mind of its own. Individuals with Fields' Syndrome may experience actions such as grasping, touching, or manipulating objects without conscious control. This condition is believed to result from damage to the brain's motor pathways, often due to stroke, trauma, or neurosurgery.
Individuals with Fields' Syndrome may benefit from consuming a diet rich in nutrients that support neurological function and brain health. This includes foods high in omega-3 fatty acids, such as fatty fish like salmon, mackerel, and sardines, as well as walnuts, flaxseeds, and chia seeds. Omega-3 fatty acids have been shown to have anti-inflammatory properties and may help support cognitive function and reduce the risk of neurodegenerative diseases.
Dercum's Disease
Dercum's Disease, also known as adiposis dolorosa, is a rare disorder characterised by the presence of painful fatty tissue growths (lipomas) throughout the body. These fatty deposits can cause chronic pain, tenderness, and swelling, often leading to mobility issues and reduced quality of life. The exact cause of Dercum's Disease is unknown, but it is believed to involve abnormalities in fat metabolism and the immune system. Treatment for Dercum's Disease typically focuses on managing symptoms, such as pain relief and physical therapy.
In managing Dercum's Disease, individuals may benefit from adopting a diet that focuses on reducing inflammation and promoting overall health. This includes consuming a variety of nutrient-rich foods such as fruits, vegetables, whole grains, lean proteins, and healthy fats. Foods rich in antioxidants, such as berries, leafy greens, and nuts, may help reduce inflammation and oxidative stress in the body.
Familial Dysautonomia (FD)
FD is a rare genetic disorder that affects the autonomic nervous system, leading to dysfunction in various bodily functions such as blood pressure regulation, digestion, and temperature control. Individuals with FD often experience symptoms such as difficulty swallowing, recurrent pneumonia, and cardiovascular problems. Treatment aims to manage symptoms and improve quality of life through supportive care.
Individuals with FD may benefit from a diet that is rich in fluids and electrolytes to help manage symptoms such as blood pressure fluctuations and gastrointestinal issues. Additionally, a balanced diet that includes nutrient-dense foods such as fruits, vegetables, lean proteins, and whole grains can support overall health and well-being.
Epidermolysis Bullosa (EB)
EB is a group of rare genetic disorders characterised by fragile skin that is prone to blistering and tearing in response to minor trauma or friction. This condition can range in severity from mild to life-threatening, depending on the subtype. Treatment focuses on wound care, pain management, and preventive measures to minimize skin damage and complications.
Individuals with EB may have difficulty swallowing and digesting certain foods due to blistering and damage to the digestive tract. A soft or liquid diet that is easy to swallow and digest may be recommended, along with adequate hydration to prevent dehydration.
8. Niemann-Pick Disease Type C (NPC)
NPC is a rare genetic disorder characterised by the abnormal accumulation of lipids within cells, leading to progressive neurological deterioration and other systemic symptoms. Individuals with NPC may experience symptoms such as developmental delays, movement disorders, and organ dysfunction. While there is currently no cure for NPC, research efforts are underway to develop targeted therapies and improve outcomes for affected individuals.
Individuals with NPC may require specialised dietary interventions to manage symptoms such as difficulty swallowing, feeding difficulties, and gastrointestinal issues. A dietitian can provide guidance on appropriate food textures and nutritional supplements to ensure adequate nutrition and hydration.
9. Paraneoplastic Pemphigus (PNP)
PNP is a rare autoimmune disorder that occurs in association with certain types of cancer, particularly hematologic malignancies (blood cancers- are a group of cancers that affect the blood, bone marrow, and lymphatic system). It is characterised by the development of painful blisters and erosions on the skin and mucous membranes. Treatment involves addressing the underlying cancer and managing symptoms with immunosuppressive medications and supportive care.
For Paraneoplastic Pemphigus (PNP), there is no specific diet. However, individuals may benefit from a soft, bland diet that is easy to swallow and gentle on the mouth and digestive system, especially if they experience mouth sores or gastrointestinal symptoms. Additionally, staying hydrated and consuming nutrient-rich foods can support overall health during treatment.
Xeroderma Pigmentosum (XP)
XP is a rare genetic disorder characterised by extreme sensitivity to ultraviolet (UV) radiation from sunlight. Individuals with XP are at increased risk of developing skin cancer and other sun-related complications. Treatment involves strict sun protection measures, including wearing protective clothing and sunscreen, as well as regular skin screenings to detect early signs of skin cancer.
Since individuals with XP are extremely sensitive to sunlight, they may need to avoid foods and beverages that contain photosensitising compounds, such as certain medications, citrus fruits, and alcoholic beverages. Additionally, sun protection measures should be strictly followed to minimise sun exposure and reduce the risk of skin cancer.
Foreign Accent Syndrome (FAS)
Foreign Accent Syndrome (FAS) is considered a rare neurological disorder. It is characterised by a sudden change in speech patterns, resulting in the affected individual speaking with an accent that is perceived as foreign to their native language or dialect.
FAS typically occurs following a neurological injury or trauma, such as a stroke, traumatic brain injury, or other neurological conditions. However, it can also occur without any identifiable cause, which is known as primary or idiopathic FAS.
While FAS is rare, it has been reported in various parts of the world, with cases documented in different countries. The exact prevalence of FAS is difficult to determine due to its rarity and the variability in its presentation.
For Foreign Accent Syndrome (FAS), there is no specific diet. However, maintaining overall good health with a balanced diet can support overall well-being alongside other treatment measures.
Blue Skin Disorder or Methemoglobinemia
Blue skin disorder, also known as methemoglobinemia, is a rare condition characterised by the presence of abnormal levels of methemoglobin in the blood. Methemoglobin is a form of hemoglobin that is unable to bind and transport oxygen effectively, resulting in a bluish discoloration of the skin, lips, and nails.
Methemoglobinemia can be inherited or acquired. Inherited forms are often caused by genetic mutations that affect the production or function of enzymes involved in the metabolism of methemoglobin. Acquired forms can result from exposure to certain medications, chemicals, or toxins that interfere with normal oxygen transport in the blood.
For Blue Skin Disorder or Methemoglobinemia, focus on a balanced diet rich in iron and antioxidants while avoiding trigger substances. Work with healthcare providers for personalised guidance.
Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome (LNS) is a severe genetic disorder characterised by neurological and behavioral abnormalities, along with the overproduction of uric acid. Individuals with LNS typically exhibit involuntary muscle movements (dystonia), cognitive impairment, and self-injurious behaviors such as biting their lips or fingers. These self-injurious behaviors are a hallmark feature of the syndrome.
Additionally, affected individuals may experience developmental delays and difficulties with movement and coordination. The overproduction of uric acid can lead to gout, kidney stones, and other related health issues.
Currently, there is no cure for Lesch-Nyhan syndrome, and treatment primarily focuses on managing symptoms and providing supportive care.
While there are no specific dietary guidelines for LNS, individuals may benefit from a well-balanced diet that meets their nutritional needs and supports overall health. Since LNS is associated with high levels of uric acid, avoiding purine-rich foods such as organ meats, shellfish, and certain types of fish may be recommended to help manage symptoms of gout and kidney stones.
While rare diseases affect a smaller portion of the population, it's important to remain vigilant about our health and seek medical attention promptly if we experience any symptoms, whether they're related to a common ailment or a rare medical condition.
Early detection and intervention can make a significant difference in managing these conditions and improving overall health outcomes. By staying informed and proactive about our health, we can work towards better health outcomes and a higher quality of life for everyone.
Amidst Rare Disease Day, let's also remember February as Gallbladder and Bile Duct Cancer Awareness Month. At Tutti Frutti Women, Thursdays are dedicated to cancer awareness, where our awesome community unites to shed light on this cause. Together, we raise awareness, offer support, and advocate for early detection and prevention.
When you do have symptoms, they can include:
tummy (abdominal) pain
feeling sick
yellowing of the skin and whites of the eyes (jaundice)
an enlarged gallbladder
weight loss…
Let's shed light on Gallbladder and Bile Duct Cancers today.
Share key red flags or risk factors.
Most common risk factors include obesity, a high fat diet, and a sedentary lifestyle.
Link:
14
#healthiswealth
Let's shed light on Gallbladder and Bile Duct Cancers today.
Share key red flags or risk factors.
Most common risk factors include obesity, a high fat diet, and a sedentary lifestyle.
Link:
for today's most important mission:
Don't ignore these red flags for gallbladder & bile duct cancers!
Who would have thunk it to be Bile Duct Cancer huhh
So if that is what it is, then how would this affect me or you?
This is how
Pain areas: in the abdomen
Whole body: fever or weakness
Also common: dark urine, itching, pale feces,…
Shoutout to each and every one of you for being so awesome!
A special and healthy food recipe
Tutti fam, our Frutti Chef, Gabriel, has whipped up something special for us: a delicious and nutritious recipe that's perfect for promoting overall health. As a 5-star chef in Slovakia, Gabriel's passion for healthy food speaks volumes in every dish. If you've tried his recipe, let us know how it turned out!
Community Spotlight
In our Community Spotlight, we turn our attention to Clay. Clay is a Shibarium aficionado, driving transaction volumes and pioneering the innovative NFT project, Lumi Bot. With his unwavering commitment to the community and boundless enthusiasm for blockchain technology, Clay embodies the spirit of frutti awesomeness! As voted by our frutti community, Clay rightfully ascends to the esteemed title of Frutti Star. Let's celebrate Clay's remarkable contributions and awesomeness in our tutti fam!
Tutti Frutti Women in the spotlight!
Tutti Frutti Women is making waves with recent articles shining a light on our mission. Big shoutouts to The Shiba Dream, Shiba TV, and Sharbi for their incredible coverage and support. Together, we're spreading awareness and amplifying the voices of our brave warriors.
Well, today we bring you an edition of shibaNews that we will do more often with projects. today we have with us our friend @andre_tfw from @tfw_nft thanks for this wonderful interview 
Andreia#SHIB #SHIBARMY #Shibarium #TFW #ShibaTV
canva.com/design/DAF9bcE…
Shib Army News: Innovating for Impact -How Tutti Frutti NFTs are Changing Lives Beyond the Screen -...
The Tutti Frutti NFT project emerges as a beacon of hope, innovation, and heartfelt commitment. This isn't just another blockchain venture; it's a
Our article reveals how these digital treasures are being used for something greater!
shibariumuniversity.com/post/tutti-fru…
These articles have definitely raised our spirits, and we are grateful!
Thank You for Being the Heartbeat of TFW!
Your presence, engagement, and commitment make TFW the awesome community it is. Thank you for reading this newsletter, for actively contributing to our shared journey towards a healthier community. Your bravery in keeping the conversation alive and breaking the silence around cancer is inspiring. Together, we're making waves, and we're grateful to have you as a vital part of the TFW family. Until next time, stay bold, stay brave, stay beautiful!
Please note: The information provided in this newsletter is for general informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your qualified health provider with any questions you may have regarding a medical condition.
If you found this newsletter informative and valuable, please consider sharing it with your friends and family. You can also collect it for just 5 $MATIC, a contribution that goes directly to our donation wallet (0x83F371C97B80BD9BbA4330164F0Bf47E857577DC), supporting cancer warriors on their journey.
Collect this post as an NFT.