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Rare degenerative disease in babies

List of 10 rare diseases affecting children In support of Rare Disease Day on 28 February, what follows is a list of only 10 of the thousands of rare diseases that affect children. Children diagnosed with any of these 10 diseases would benefit from a palliative care approach. 1. Batten Disease affects boys and girls. Symptoms of Batten disease. Rare diseases similarly fluctuate widely in terms of harshness, but in average the life expectancy of rare disease patients is significantly The life expectancy of an individual with CF is approximately 30 years. In support of Rare Disease Day on 28 February, what follows is a list of only 10 of the thousands of rare diseases that affect children Canavan disease is rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop symptoms between 3-6 months of age Progeria is also known as Hutchinson-Gilford progeria syndrome (HGPS). It's a rare condition that causes a child's body to age fast. Sadly, most kids with progeria do not live past the age of 13. The boy, played by Brad Pitt, on which the movie was loosely based lived to be 17 A team of South Australian researchers has cracked a rare gene variant for a disorder that causes severe neurodegeneration in infants. The previously baffling condition sees a normal healthy child..

rare degenerative disease in babies life expectanc

  1. Ataxia-telangiectasia, or A-T, is a progressive, degenerative disease that affects a startling variety of body systems. The first signs of the disease usually appear early in childhood (the toddler stage), when children begin to walk
  2. General Discussion Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a developmental bone disease of childhood. It is rare and clinical experience with this condition is limited. Most cases are diagnosed before 8 years of age
  3. DMD is a rare condition that is more common in boys, affecting about one in every 3,500 male births. DMD starts in childhood and may be noticed when a child has difficulty standing up, climbing or running. It starts in the leg muscles before quickly progressing to other muscle groups
  4. Browse A-Z. Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and.
  5. Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six years of age
  6. Alagille syndrome is a rare genetic disorder that affects the liver, kidney, heart, and other organs of the body. Symptoms related to this syndrome are usually noticed in the early years of life. It affects around 1 in 70,000 newborns
  7. Juvenile dermatomyositis is an inflammation of muscles (myositis), as the faulty immune system attacks blood cells throughout the child's body. The condition is very rare as three in one million children are affected in the US every year (10). It mostly occurs in children of five to ten years of age. 10

The signs and symptoms of hypermobile Ehlers-Danlos syndrome vary but may include:. Joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints; Frequent joint dislocations and subluxations (partial dislocation), often affecting the shoulder, kneecap, and/or temporomandibular joint (joint that connects the lower jaw to the skull 'We don't know what the future holds': AFL great Gary Ablett Jnr and his wife reveal their son, 17 months, is battling 'a rare degenerative disease' as pair share gut-wrenching tributes to the.. Wolfram Syndrome -- a progressive degenerative disease that affects about one in 500,000 people worldwide -- is characterized by the onset of diabetes in childhood, and, in teen years, psychiatric..

Canavan Disease - NORD (National Organization for Rare

This Family Wants You to Take the #SmashSMARD Challenge to Abolish Their Son's Rare Degenerative Disease Two-year-old Nash Stineman is one of less than 100 people in the world with Spinal Muscular. A rare degenerative disease strikes during childhood. A multimillion-dollar gift is fueling CHOP scientists' search for a cure. In Pursuit of Cure for a Rare Degenerative Disease | Children's Hospital of Philadelphi Batten disease is a rare genetic condition that's part of a group of progressive degenerative neurometabolic disorders known as neuronal ceroid lipofuscinoses (NCLS). Currently, it can't be prevented and it is fatal. The disease causes lipopigments, which are fats and proteins, to abnormally build up in the body's tissues

15 Devastating Degenerative Diseases Parents Can't Avoi

  1. A rare, fatal, autosomal recessive neurodegenerative disorder that begins in childhood. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs)
  2. At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease. There's..
  3. The degenerative nature of Tay-Sachs results in its short life expectancy, and infants with the syndrome do not survive their first years of life. The degenerative nature of the syndrome leads to the destruction of the nerve cells in the brain and spinal cord

The rare genetic disorder identified in only 3 people

According to Boston Children's Hospital, SMA Type 1 (also known as Werdnig-Hoffmann disease) causes various symptoms in babies as their muscles waste away, such as being unable to sit without.. The Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh offers novel therapeutic modalities and personalized services to treat infants, children, adolescents, and young adults who are diagnosed with a variety of rare disorders, including: Adrenoleukodystrophy. Alpha-1-Antitrypsin (AT) Deficiency The couple found out that Benny had Canavan disease, an extremely rare degenerative disorder. Canavan disease currently has no cure, and most children diagnosed with it do not live past 10 years old, according to the nonprofit advocacy group Canavan Foundation If you have problems viewing PDF files, download the latest version of Adobe Reader. For language access assistance, contact the NCATS Public Information Officer. Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-231 Common chronic and degenerative conditions that can lead to disability include: multiple sclerosis. arthritis. Parkinson's disease. muscular dystrophy. Huntington's disease. If you or someone you are caring for has a chronic or degenerative condition, you may need to make some changes to make life easier. These might include

RELATED: Canadian Boy With An Ultra-Rare Degenerative Disease Receives More Than $1M In Donations. For those who see Rhys Devine and do not know that she has a life-threatening disease, what they see is a happy, smiling, six-month-old baby girl Gary Ablett Jr and his wife Jordan with baby Levi (pictured) before his diagnosis with a rare degenerative disease Jordan pushes baby Levi in a pram during round 18 of the AFL tournament on the.

What is A-T? - A-T Children's Projec

  1. DTDS is a rare neurological condition that causes progressive dystonia and parkinsonism, so called because of similarities to Parkinson's disease. It usually begins in infancy; however, some people may not develop symptoms until childhood or later. Infants with DTDS are rarely able to learn to walk or speak
  2. Caring for a child with a degenerative rare disease. Marie-Michèle Arpin with son, Thomas. Before giving birth to my son, I was not aware of what it meant to live with a seriously ill child. As a parent, it is sometimes difficult to express the feelings of loneliness and isolation that come into your life when your child has a rare disease.
  3. In Pursuit of Cure for a Rare Degenerative Disease. a rare genetic disorder that limits the production of frataxin, a protein in the mitochondria, the cells' energy generators. FA damages the nervous system and impairs muscle coordination, causing problems with movement and sensation that get progressively worse. Director of Children.
  4. Neuroblastoma occurs in around 100 children each year in the UK or about one in 70,000 children. It usually affects children under the age of five, and can occur before a child is born. Neuroblastoma is a rare and aggressive childhood cancer and the cause is unknown. It is the most common solid tumour in children after brain tumours
  5. At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease

Over one million dollars has been raised on this Canadian family's GoFundMe to help with their toddler who suffers from an ultra-rare degenerative disease.. Two-year-old Michael Pirovolakis could be paralyzed by age 10 due to hereditary spastic paraplegia-50 (SPG50), a genetic defect in which the body fails to produce a certain protein essential for development There are more than 7,000 known rare diseases, according to the National Organization for Rare Disorders (NORD). A disease is considered rare in the U.S. if it affects fewer than 200,000 people 10 Rare Autoimmune Diseases. There are thousands of rare diseases—more than 6,800, according to the National Human Genome Research Institute. Here are 10 in the category of rare autoimmune. Both the diseases are caused by either abnormal chromosomes or genetic mutation. Other factors include too much revelation to X-rays, pesticides, chemicals, toxins, drugs, virus or radiation. However, sometimes the cause of this rare disease cannot be determined. Treatment: Children are generally fitted an artificial eye for the growth of the. We should apply the lessons learned on a macro-level in the rapid creation of the COVID-19 vaccines to the micro-numbers of treatments required for children born with ultra-rare genetic diseases

While each disease is rare, collectively they affect more than 60 million people in Europe and the US. Of the known rare diseases, 80% have identified genetic origins while others are the result of infections (viral or bacterial), allergies and environmental causes, or are degenerative and proliferative. Half of all rare diseases affect children Marfan syndrome (MFS) is a genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly-flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm Hunter was diagnosed with an extremely rare, progressive neuro-degenerative disease known as Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3). Hunter had two mutations on a gene called SBF1. He told us Hunter's disease was ultra rare, and there had only been 14 other documented cases worldwide The couple found out that Benny had Canavan disease, an extremely rare degenerative disorder. Canavan disease currently has no cure, and most children diagnosed with it do not live past 10 years.

Wolfram Syndrome—a progressive degenerative disease that affects about one in 500,000 people worldwide—is characterized by the onset of diabetes in childhood, and, in teen years, psychiatric. CMT3, or Dejerine-Sottas disease, is a particularly severe demyelinating neuropathy that begins in infancy. Infants have severe muscle atrophy, weakness, delayed motor skills development, and sensory problems. Symptoms may progress to severe disability, loss of sensation, and curvature of the spine The aim of this paper is to report sibling experiences related to these rare degenerative and progressive conditions, in order to inform the future development of supportive interventions. Eight siblings of children with MPS (n = 7) and Batten Disease (n = 1) participated in semi-structured qualitative interviews Wolfram Syndrome - a progressive degenerative disease that affects about one in 500,000 people worldwide - is characterized by the onset of diabetes in childhood, and, in teen years, psychiatric symptoms, loss of vision, deafness, and incontinence. Most patients die in their 30s. There are no treatments A rare disease may be inherited in several different ways, the main ones being: autosomal dominant, autosomal recessive, X-linked, and spontaneous or de-novo. An individual with a rare disease may be the first case of this syndrome in their family. While research into rare diseases is growing, both into its causes and symptoms, there is still.

Gene Therapy, New Drug Fight Rare Disease in Kids. WEDNESDAY, Nov. 1, 2017 (HealthDay News) -- Babies born with a previously untreatable degenerative nerve disease now have two fresh sources of. New screening program helps baby with rare disease receive treatment. TORONTO -- It was good news and bad news for an Ottawa family whose baby was diagnosed with a rare degenerative disease in. Katie and Jacob Lamprecht are doing what they can to buy more time for their three children, all of whom have a rare degenerative illness that has no cure. Last fall, 10-year-old Kiara Lamprecht and her eight-year-old sister Hannah were diagnosed with juvenile neuronal ceroid lipofuscinoses — also known as CLN3 or juvenile Batten disease. [ Stargardt Disease Defined. In rare cases-one in 20,000-macular degeneration is diagnosed in children and teenagers. Of those cases, the most common cause is Stargardt disease, named for Karl Stargardt, a German ophthalmologist who first reported a case in his practice in 1901. Sometimes called Stargardt's disease, Stargardt affects both.

Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death.Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain Visit the Rare Diseases Clinical Research Network website to get information about many uncommon conditions.; Get in touch with the Genetic and Rare Diseases Information Center (GARD) to connect with helpful resources and specialists who can talk to you about your condition. Check out Genetics Home Reference to see fact sheets about more than 1,200 diseases and conditions Huntington's disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders But Connor is no ordinary toddler. He was born with ataxia-telangiectasia, or A-T, an ultra-rare, progressive, degenerative disease that unleashes a cascade of severe symptoms such as deteriorating muscle control, slurred speech, respiratory infections, feeding issues and a predisposition to numerous types of cancer. The prognosis is grim The Foundation to Fight H-ABC has announced sponsored research agreements with UMass Medical School and Yale University to advance a targeted gene therapy for this rare degenerative children's disease. Guangping Gao, PhD, is leading the work at UMMS

How high is too high a cost, some argue, if a drug can save 200 or 300 babies a year from a debilitating, degenerative illness or death? Rare diseases, however, aren't all that rare Juvenile macular degeneration (JMD) is the term for several inherited and rare diseases that affect children and young adults. They include Stargardt's disease, Best disease, and juvenile. Rare Daily Staff The U.S. Food and Drug Administration granted Lexeo Therapeutics Rare Pediatric Disease designation and Orphan Drug designation to LX2006 for the treatment of Friedreich's ataxia, a rare neuromuscular disease. Friedreich's ataxia (FA) is a rare, degenerative, multi-system disorder affecting approximately one in 50,000 people in the United States. It is an inherite Geelong champion Gary Ablett has shared the heartbreaking news that his infant son Levi is battling a rare and degenerative disease. Ablett, who celebrated his 350th AFL game milestone with a win.

Chris runs Rare Science a non-profit organization that focuses on children with rare diseases by partnering with patient family communities and foundations. Steve and Gay Grossman and Chris Waters In a news release , Chris says there are currently 7,000 identified rare diseases and 50 percent of those affect children; tragically 30 percent of. Below, we list 11 rare skin diseases along with their symptoms and possible treatments. 1. Blau syndrome. This rare skin condition usually affects children under 4 years old. It is a genetic. Ablett, wife of Geelong superstar Gary Ablett, said the couple is still holding out hope for treatment to change the prognosis of their 19-month-old son Levi's rare degenerative disease New Hope to Children With Rare and Fatal Brain Disease. New gene therapy helps cure a rare degenerative brain disorder called Dopamine Transporter Deficiency Syndrome (DTDS). The disorder is. Vanishing white matter (VWM) disease is an inherited condition caused by a faulty gene. Children with VWM disease have a defective protein that prevents the body from making enough myelin, a white, fatty substance that insulates nerve fibers, protecting them from damage. Nerve fibers covered by myelin are known as white matter.

Rare Disease Database - NORD (National Organization for

Symptoms of the disease usually begin after the age of 50, although the disease can occur earlier. Unlike polymyositis and dermatomyositis, IBM occurs more frequently in men than in women. Necrotizing autoimmune myopathy (NAM) is a rare and relatively newly recognized subgroup of inflammatory myopathies. NAM can occur at any age but usually. Using this laboratory model, or disease in the dish, made directly from the cells of children in this rare condition, scientists have tested experimental gene therapy for DTDS and are associated with DTDS disease. We were able to show that we can reduce the defects that occur. Brain cells.

Family fights to find a cure after 2 children are

Types of rare diseases Great Ormond Street Charit

In March, movie producer Gordon Gray and his wife Kristen learned that both of their daughters suffer from an incredibly rare degenerative brain disorder for which there is no cure. The producer. From DNA to disease, study describes rare, new brain disorder. In the Proceedings of the National Academy of Sciences, a team of scientists shows how mutations in the gene GPT2 lead to a rare developmental and potentially degenerative brain disease. In the lab - Professor Eric Morrow and Investigator Qing Ouyang helped to lead a study tracing. According to the policy, rare diseases include genetic diseases, rare cancers, infectious tropical diseases, and degenerative diseases. Under the policy, there are three categories of rare diseases — requiring one-time curative treatment, diseases that require long-term treatment but where the cost is low, and those needing long-term. Genetic factors play a role in many kinds of eye disease, including those diseases that are the leading cause of blindness among infants, children and adults. More than 60 percent of cases of blindness among infants are caused by inherited eye diseases such as congenital (present at birth) cataracts , congenital glaucoma, retinal degeneration.

A rare disease is a health condition which has a low prevalence and affects a small number of people. The European Union defined a rare disease as one that affects less than 5 in 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases, out of which 450 have been identified in India. And around five new rare. LOS ALTOS, CA - February 25, 2021 - Retrotope, a clinical-stage biopharmaceutical company focused on the development of novel, first-in-class therapies for degenerative diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted two rare pediatric disease designations to RT001, the company's lead development. COVID-19 is an emerging, rapidly evolving situation. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Get the latest research information from NIH: https://covid19.nih.gov (link is external Advancing Understandingof Rare Disease. Annually, up to 10 percent of the nearly 4 million babies born in the US are hospitalized in an intensive care unit due to an underlying rare genetic disease. Without proper diagnosis and treatment, some such disorders can lead to permanent disability or even death Family March 30, 2021 Only 300 people are known to live with this toddler's same rare degenerative disease 20-month-old Hoyt Lambert was diagnosed with KAND, a rare genetic disorder that gets worse over time, and his parents say more research is needed so they can create a bright future for their son

Dying patients with rare diseases struggle to get experimental therapies. At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease. There's lots of things that she used to be able to do just fine, said her mom. Muscular Dystrophy and other Rare Diseases . ACOHOF strives to identify children suffering from Muscular Dystrophy and other rare diseases, sensitize the general public on muscular dystrophy, give education and medical care to those infected, provide wheelchairs to identified needy cases, and train their parents on how to manage their conditions to live healthier and longer

Browse A-Z Genetic and Rare Diseases Information Center

Only 300 people are known to live with this toddler's same rare degenerative disease. March 29, 2021, 3:49 PM. delivering 107 babies in a total of 91 hours. The baby boom was not entirely. Children with rare genetic disease find comfort in this first-ever meeting Rohan's parents finally received the diagnosis that Rohan had the rare, neurological and degenerative genetic. Creutzfeldt-Jakob Syndrome. This is a very rare degenerative neurological (brain) disorder. The symptoms of this disease include dementia, memory loss, hallucinations, anxiety, depression, difficulty swallowing/speaking, blurred vision, inability to think properly, jerky movements, insomnia, and changes in personality 4: Familial Idiopathic Basal Ganglia Calcifications (Fahr's Disease) Fahr's Disease is a rare degenerative neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) and associated cell loss in certain areas of the brain (e.g., basal ganglia) A rare disease refers to a disorder, condition, or disease that affects a small percentage of the population at any given time. For example, in the United States, a rare disease is defined as a disease that affects less than 200,000 individuals, while in the European Union, it affects fewer than 1 in 2,000 individuals

Rare liver diseases are not so rare if they affect you or someone you love. There has been a lot of attention on more common liver diseases recently, such as hepatitis, but there are more than 100 different types of liver disease. Many you may have never heard of. Two such conditions are Alpha-1 antitrypsin deficiency and Alagille syndrome Rare diseases include genetic diseases, rare cancers, infectious tropical diseases and degenerative diseases. 80% of rare diseases are genetic in origin and hence disproportionately impact children. There is no universally accepted definition of a rare disease. Different countries define rare diseases differently

Video: Duchenne Muscular Dystrophy - rare disease

An A-to-Z List of Rare Genetic Diseases and Disorders

Legg-Calve-Perthes is a rare hip condition affecting children younger than 10 years old. The cause of Legg-Calve-Perthes disease is currently unknown. Children with Legg-Calve-Perthes disease often develop a noticeable limp and may have some pain in the hip, pelvic and upper leg areas. A physical exam, X-rays and an MRI scan are often used to. Genetic brain disorders affect the development and function of the brain. Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family Rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. 2,3 Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment and they are often chronic, progressive, degenerative, and frequently life-threatening. Referred to as DMD, Duchenne muscular dystrophy is a degenerative disease that affects the skeletal muscles, weakening the patient over a period of several years. Duchenne Muscular Dystrophy is a dystrophinopathy which is a spectrum of X-linked genetic conditions focusing on muscle degeneration

About 30 million people, or one in 10 people, in the U.S. are affected by a rare disease. Half of the people with rare diseases are children. This is because pediatric cancer is defined as a rare disease. 80 percent of rare diseases are genetic, meaning they are caused by a change or mutation in a person's DNA According to the Genetic and Rare Diseases Information Center, IBM is a progressive muscle disorder characterized by muscle inflammation, weakness and atrophy. The disease typically develops. The voice of rare disease patients in Europe The international voice of people living with rare diseases Bringing together patients, families and experts to share experiences in a moderated multi-language forum. The Rare Barometer Programme is a EURORDIS initiative that carries out surveys to transform rare disease patients' experiences into figures and facts that can be shared with decision.

58 Russell Silver Syndrome ideas | syndrome, rare disease

The disorder is so rare fewer than 300 people in the entire world have been diagnosed. Degenerative and progressive, it can rob people, including children, of their ability to walk, talk, feed themselves and see. It's for those reasons Hoyt's family is so desperately searching for a cure Isolation is one of the many issues faced by rare disease patients all over the world. In Australia, where 20 million people live in a territory roughly the size of Europe, isolation takes on a very special meaning. This is reinforced by the current lack of a national approach for rare diseases, either from government or from patient organisations

Autoimmune Diseases In Children: Types And Symptom

A rare disease is generally considered to be one that affects fewer than 200,000 people in the United States. Some eye diseases are rare. Several are linked to genetic mutations. Genetic testing and counseling can help guide care for people and families who are at increased risk for an inherited eye disease. Examples of rare eye diseases include Peter Frampton, the legendary guitarist whose 1976 record, Frampton Comes Alive, is still one of the best-selling live albums of all time, has revealed he will stop touring because of a rare. Children with a devastating genetic disorder characterized by severe motor disability and developmental delay have experienced sometimes dramatic improvements in a gene therapy trial launched at UC San Francisco Benioff Children's Hospitals. The trial includes seven children aged 4 to 9 born with deficiency of AADC, an enzyme involved in the. SMA in children is classified into three types, based on ages of onset, severity, and progression of symptoms. All three types are caused by defects in the SMN1 gene. SMA type I, also called Werdnig-Hoffmann disease, is evident by the time a child is 6 months old. Symptoms may include hypotonia (severely reduced muscle tone), diminished limb.

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One of the greatest boxers in history, Muhammad Ali was diagnosed with Parkinson's disease in 1984. Parkinson's is a degenerative condition that affects the central nervous system Rare diseases are often chronic, progressive,degenerative, and often life-threatening; Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy [] 75% of rare diseases affect children; 30% of rare disease patients die before the age of 5; Although these numbers are daunting, the good. Rare Retinal Disease Glossary. Achromatopsia: Achromatopsia is a non-progressive and hereditary visual disorder characterized by the absence of color vision, decreased vision, light sensitivity and nystagmus (repetitive and uncontrolled eye movements). The disorder is caused by the absence of functioning cones (photoreceptors) in the retina Erdheim-Chester Disease is an extremely rare disorder that can affect many different organs of the body. It is characterized by excessive production and accumulation of specific cells whose normal function is to fight infections. These cells, which are called histiocytes, infiltrate the loose connective tissue of the body Some are degenerative and proliferate while 50% of rare diseases affect children. In most of the cases, there are no existing effective cures adding to the high level of pain and suffering endured by patients and their families.First launched by EURORDIS and its Council of National Alliances in 2008, the main objective of this day is to raise. The Rare and Orphan Disease Center conducts research to better treat these diseases. rare diseases are quite common, with incidence estimates ranging up to 1 in 10 people. They cover a huge range of severities, symptoms and causes too, from devastating neuromuscular diseases like ALS to behavioral disorders to fungal infections