Rare Diseases Resources
A collection of resources on topics of interest to the rare disease community, including rare disease social networks, online medical reference Web sites, rare disease events, and more.
Rare Action Network
The Rare Action Network (RAN) is the nation’s leading advocacy network working to improve the lives of the 30 million Americans living with a rare disease at the state level. RAN serves as a broad spectrum of stakeholders ranging from patients, to their families, caregivers, and friends; from researchers to industry; to physicians and academia. While working predominantly at the state level, the network will filter information up to NORD’s national federal policy team to help address issues of national concern.
Why should I join?
Members of the Rare Action Network are part of 30+ million person community working towards improving the lives of patients with rare diseases.
Zika virus and pregnancy
the Zika virus is probably a top-of-mind concern right now, and with good reason: This mosquito-borne virus is dominating headlines with its scary multi-country advance and potentially devastating consequences for pregnant women and their babies.
Zika surfaced just over a year ago in South America, and Brazil has been disproportionately affected, with thousands of babies suffering severe birth defects, including brain damage, in utero when their mothers contracted the virus. But it has now spread to more than three dozen countries and territories in the Americas, and has recently landed in the United States (although it’s important to note that these U.S. cases were brought by returning travelers from affected regions). According to the Centers for Disease Control and Prevention (CDC), 168 pregnant women in the US and the District of Columbia have been diagnosed with Zika and another 142 have been identified in the US territories, which includes the US Virgin Islands and Puerto Rico.
Per the CDC, mosquitoes in the continental United States or Hawaii have not spread Zika. However, lab tests have confirmed Zika virus in travelers returning to the United States. These travelers have gotten the virus from mosquito bites and some non-travelers got Zika through sex with a traveler. Cases of local transmission have been confirmed in three US territories: Puerto Rico, the US Virgin Islands, and American Samoa.
The virus is likely to spread further, according to the World Health Organization (WHO), because the mosquito that transmits Zika is in all but two countries of the Americas, and the people in these regions lack immunity to the virus.
If you’re expecting (and frankly, even if you’re not), it’s crucial to arm yourself with information and up-to-date advice. This is what you need to know:
What is Zika virus?
The Zika virus is an insect-borne illness that can be primarily transmitted by infected Aedes mosquitoes, the same kind that carry dengue and yellow fever. The name comes from the Zika Forest in Uganda where monkeys with the virus were first found in 1947.
Why is it dangerous?
For the relatively few people who show signs of a Zika infection, the illness is often very mild. But in pregnant woman, the effects can be devastating, and can include pregnancy loss or a baby born with an abnormally small head and brain—a condition known as microcephaly, says Edward R.B. McCabe, M.D., Ph.D., Senior Vice President and Chief Medical Officer of the March of Dimes. Microcephaly may be associated with developmental delays, mental retardation, and seizures, and in some cases can be fatal.
Until recently, Zika virus had only been associated with significant risk to the fetus—it wasn’t established that the effects were actually caused by it. But now the news has changed and health officials can report a direct link between Zika and microcephaly. Still, there are many unknowns—including how likely it is that an infection in a pregnant woman will be passed on to her fetus; whether some fetuses are infected but don’t develop microcephaly; how often pregnancy loss may occur in expecting women with Zika virus; and whether pregnancy makes women more susceptible to the virus, says MarjorieTreadwell, M.D., director of the Fetal Diagnostic Center at the University of Michigan and a maternal and fetal medicine expert.
To date, there have been no infants born with microcephaly and other poor outcomes linked to locally acquired Zika virus infection during pregnancy in the continental United States. One infant with microcephaly linked to travel-associated Zika virus infection during pregnancy has been reported in Hawaii as well as one with microcephaly born in a hospital in New Jersey to a woman who had previously tested positive for Zika virus infection and had traveled to Central America during pregnancy.
While the Zika virus remains in the blood of an infected person for a few days to a week, according to the CDC, there’s no current evidence to suggest that it poses a risk of birth defects in future pregnancies. And Zika won’t cause infections in a baby that’s conceived after the virus has left the bloodstream.
If you’re pregnant and think you may have been exposed to Zika, see your health care provider right away and get tested. If you get Zika during pregnancy, you can pass it to your baby. Zika infection during pregnancy can cause a serious birth defect called microcephaly and other problems, like miscarriage and stillbirth.
Glut-1 My own Daughters condition, also found on this website on different page
Learning About Glut1 Deficiency Syndrome and a variety of seizure types
Beare-Stevenson cutis gyrata syndrome
Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its incidence is unknown. Fewer than 20 people with this condition have been reported worldwide.
Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by skin abnormalities and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
Many of the characteristic facial features of Beare-Stevenson cutis gyrata syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a cloverleaf-shaped skull, wide-set and bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion of the skull bones also affects the growth of the brain, causing delayed development and intellectual disability.
A skin abnormality called cutis gyrata is also characteristic of this disorder. The skin has a furrowed and wrinkled appearance, particularly on the face, near the ears, and on the palms and soles of the feet. Additionally, thick, dark, velvety areas of skin (acanthosis nigricans) are sometimes found on the hands and feet and in the genital region.
Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can include a blockage of the nasal passages (choanal atresia), overgrowth of the umbilical stump (tissue that normally falls off shortly after birth, leaving the belly button), and abnormalities of the genitalia and anus. The medical complications associated with this condition are often life-threatening in infancy or early childhood.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations in the gene, and occurred in people with no history of the disorder in their family.
For a lot more info on this click on link in red
We Have a Family looking for others this is their Facebook Contact Link:
What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by an alteration (mutation) in a gene, called the DMD gene that can be inherited in families in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. The DMD gene is the second largest gene to date, which encodes the muscle protein, dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles.
Duchenne muscular dystrophy affects approximately 1 in 3500 male births worldwide. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy.
What are the symptoms of Duchenne muscular dystrophy?
The symptoms usually appear before age 6 and may appear as early as infancy. Typically, the first noticeable symptom is delay of motor milestones, including sitting and standing independently. The mean age for walking in boys with Duchenne muscular dystrophy is 18 months. There is progressive muscle weakness of the legs and pelvic muscles, which is associated with a loss of muscle mass (wasting). This muscle weakness causes a waddling gait and difficulty climbing stairs. Muscle weakness also occurs in the arms, neck, and other areas, but not as severely or as early as in the lower half of the body.
Calf muscles initially enlarge and the enlarged muscle tissue is eventually replaced with fat and connective tissue (pseudohypertrophy). Muscle contractures occur in the legs, making the muscles unusable because the muscle fibers shorten and fibrosis occurs in connective tissue. Occasionally, there can be pain in the calves.
Symptoms usually appear in boys aged 1 to 6. There is a steady decline in muscle strength between the ages of 6 and 11 years. By age 10, braces may be required for walking, and by age 12, most boys are confined to a wheelchair. Bones develop abnormally, causing skeletal deformities of the spine and other areas.
Muscular weakness and skeletal deformities frequently contribute to breathing disorders. Cardiomyopathy (enlarged heart) occurs in almost all cases, beginning in the early teens in some, and in all after the age of 18 years. Intellectual impairment may occur, but it is not inevitable and does not worsen as the disorder progresses.
Few individuals with DMD live beyond their 30s. Breathing complications and cardiomyopathy are common causes of death.
How is Duchenne muscular dystrophy diagnosed?
Duchenne muscular dystrophy is diagnosed in several ways. A clinical diagnosis may be made when a boy has progressive symmetrical muscle weakness. The symptoms present before age 5 years, and they often have extremely elevated creatine kinase blood levels (which are described below) . If untreated, the affected boys become wheelchair dependent before age 13 years.
A muscle biopsy (taking a sample of muscle) for dystrophin studies can be done to look for abnormal levels of dystrophin in the muscle. The dystrophin protein can be visualized by staining the muscle sample with a special dye that allows you to see the dystrophin protein. A muscle which has average amounts of dystrophin will appear with the staining technique as though there is caulking around the individual muscles cells and it is holding them together like window panes. A boy with Duchenne, on the other hand, will have an absence of dystrophin and appear to have an absence of the caulking around the muscle cells. Some individuals can be found to have an intermediate amount of the dystrophin protein. Often these boys are classified as having Becker muscular dystrophy.
Genetic testing (looking at the body’s genetic instructions) on a blood sample for changes in the DMD gene can help establish the diagnosis of Duchenne muscular dystrophy without performing a muscle biopsy. Genetic testing is constantly changing, but the methods currently being used look for large changes in the gene (deletion/duplication) and another method, which looks at the letters that spell out the instructions found within the DMD gene (sequencing). Together these two methods can detect the disease causing changes in about 95% of patients. Those individuals who are not found to have a detected change in the DMD gene using this method, and who are diagnosed with DMD by biopsy, still have a change in their gene but it is in areas of the gene that are not examined using these methods. However, the results of genetic testing may not be conclusive of a diagnosis of DMD, and only the muscle biopsy can tell the level of dystrophin protein for sure.
For the remaining individuals, a combination of clinical findings, family history, blood creatine kinase concentration and muscle biopsy with dystrophin studies confirms the diagnosis. Creatine kinase is an enzyme that is present normally in high concentrations in the muscle cells of our body. During the process of muscle degeneration or breakdown, the muscle cells are broken open and their contents find their way to the bloodstream. Therefore elevated levels of creatine kinase can be detected from a blood test and it is a measure of muscle damage. Elevated levels can be the result of multiple reasons including acute muscle injury, or chronic condition such as Duchenne muscular dystrophy.
For more info
DMD is inherited as an X-linked disease. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the defective gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disease.
Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.
If a male with an X-linked disorder is able to reproduce, he will pass the defective gene to all of his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.
Some females who inherit a single copy of the disease gene for DMD (gene carriers or heterozygotes) may exhibit some of the symptoms associated with the disease such as weakness of certain muscles, especially those of the arms, legs, and back. Carrier females who develop symptoms of DMD are also at risk for developing heart abnormalities, which may present as exercise intolerance or shortness of breath. If left untreated, heart abnormalities can cause life-threatening complications in such affected females.
DMD is caused by mutations of the DMD gene located on the short arm (p) of the X chromosome (Xp21.2). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome Xp21.2” refers to band 21.2 on the short arm of the X chromosome. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
The DMD gene regulates (encodes for) the production of dystrophin, a protein that appears to play an essential role in maintaining the integrity of cell membrane in skeletal (voluntary) and cardiac muscle cells. Dystrophin is found attached to the inner side of the membrane that surrounds muscle fibers. Mutation of the DMD gene will result in absence of the dystrophin protein, leading to degeneration of muscle fibers. The body can replace (regenerate) some muscle fibers, but over time more and more muscle fiber is lost. Such degeneration leads to the symptoms and findings associated with DMD. In Becker muscular dystrophy, a related disorder, dystrophin is present, but it is truncated or only present in insufficient levels to properly perform its functions.
Although most boys with DMD inherit the abnormal gene from their mothers, some may develop the diseases as the result of a spontaneous mutation of the dystrophin gene that occurs randomly for unknown reasons (de novo or sporadic cases).
DMD is the most common childhood onset form of muscular dystrophy and affects males almost exclusively. The prevalence is estimated to be 1 in every 3,500 live male births. Age of onset is usually between 3 and 5 years of age. The muscular dystrophies as a whole are estimated to affect 250,000 individuals in the United States.
Infantile spasms (also called IS)
Infantile Spasms / West’s Syndrome / Epilepsy
Infantile spasms (also called IS) are also known as West syndrome because it was first described by Dr. William James West, in the 1840s. The spasms consist of a sudden stiffening. Often the arms flung out as the knees are pulled up and the body bends forward (“jackknife seizures”). Less often, the head can be thrown back as the body and legs stiffen in a straight-out position. Movements can also be more subtle and limited to the neck or other body parts. Infants can cry during or after the seizure. Each seizure lasts only a second or two but they usually occur close together in a series. Sometimes the spasms are mistaken for colic, but the cramps of colic do not occur in a series.
Babies with Infantile spasms often seem to stop developing as expected. Or they may lose skills like sitting, rolling over, or babbling.
Infantile spasms are most common just after waking up and rarely occur during sleep.
Who gets it?
Infantile spasms is considered an age specific epilepsy that typically begin between 3 and 8 months of age. Almost all cases begin by 1 year of age and usually stop by the age of 2 to 4 years. IS is not common – they affect only one baby out of a few thousand. About 2/3 of babies with IS have some known cause for the seizures. A number of conditions may cause changes in the way the brain forms or functions. For example problems with a gene(s) or body metabolism, changes in the brain structure (called a malformation), lack of oxygen to the brain, brain infections or injury before the seizures begin. Others have had no apparent injury and have been developing normally. There is no evidence that family history, the baby’s sex, or factors such as immunizations are related to infantile spasms.
Types of Seizures
Triggers of Seizures
About Epilepsy: The Basics
What is epilepsy
Baby has seizures, but misdiagnosed as Colic or Reflux.
Sep 4, 2008
We took our baby to the pediatrician and a special “Colic Clinic” to determine what was wrong with him for the first 8 weeks of his life. Unfortunately, he never displayed any “episodes” while visiting doctors. So it wasn’t really the fault of our doctors that he was misdiagnosed. We filmed our baby out of desperation and finally got some attention. Before this video received any comments, we had already gone to the emergency room. It was determined that he was having multiple different types of seizures all at once (no signs of “classic seizures”). After an MRI, we received the diagnosis that he has hemimegalencaphaly. It’s a rare malformation of the brain that causes seizures.
Although he didn’t display this intense episode all along, it finally got to this point after 6 or 7 weeks. If your baby “jack-knifes” or rolls his eyes back, please take him/her to a neurologist or the ER. Our doctors asked all along if he turned blue, but he never did. Just because your baby doesn’t turn blue, doesn’t mean he’s not having seizures (if he’s showing these other signs).
Thank you to all the concerned folks who sent us comments. We hope this video will be helpful to others in our situation.
Rarely reported, occurs in 1:2500 births with a fetal mortality rate estimated to be as high as 95 percent if not diagnosed prenatally.
Vasa previa occurs when fetal blood vessel(s) from the placenta or umbilical cord cross the entrance to the birth canal, beneath the baby. Vasa previa can result in rapid fetal hemorrhage (occurs from the vessels tearing when the cervix dilates or membranes rupture) or lack of oxygen (if the vessels become pinched off as they are compressed between the baby and the walls of the birth canal). The aberrant vessels result from velamentous insertion of the cord, bilobed or succenturiate lobed placenta.
Vasa previa can be asymptomatic but can also present with sudden onset of abnormally heavy or small amounts of painless vaginal bleeding in the second or third trimester of pregnancy. Source of blood should always be investigated to determine whether the blood is maternal or fetal if the baby is not in distress.
Vasa previa might be present if any of the following conditions exist: low-lying placenta (may be caused by previous miscarriages followed by curreting of the uterus (D&C) or uterine surgeries, which can cause scarring in the uterus), bilobed or succenturiate-lobed placentas, velamentous insertion of the cord, pregnancies resulting from in-vitro fertilization or multiple pregnancies. Vasa previa bleeding is painless. Other obstetrical or birthing bleeding complications are not necessarily painless.
Vasa previa is an extremely rare but devastating condition in which fetal umbilical cord blood vessels cross or run in close proximity to the inner cervical os (the internal opening in the cervix separating the uterine cavity from the vagina). These vessels course within the membranes, unsupported by the umbilical cord or placental tissue, and are at risk of rupture if the supporting membranes are damaged. Vasa previa carries a high mortality rate—50percent of undiagnosed cases end in the death of the fetus. Fortunately this condition is rare, occurring in only one out of every 2,000 pregnancies.
The normal umbilical cord begins right off the placenta, and it carries two arteries and one vein directly into the baby’s body. In vasa previa, the origin of the cord is in the membranes near the placenta, so there is an area in the membranes where the blood vessels are not in the cord at all. Even worse, this area of the membranes containing the cord blood vessels is in front of the internal cervical os. Without the protection of the tough, fibrous cord, the blood vessels have little support. When labor begins and the mother’s water breaks, the unsupported vessels in and around the umbilical cord can tear, resulting in the death of the baby from blood loss within two to three minutes unless an emergency. C-section, is performed.
Also known as a Caesarean section, a C-section is when a mother delivers her baby through an incision made in her abdomen and uterus.
If you are having difficulty grasping what occurs in vasa previa, it may be helpful to understand the origin of the condition’s name, which is derived from Latin. Vasa is the plural form of vas, which denotes a vessel (it’s the root of English words like vase), and previa (from which we also get previous) can be broken down into two components—pre, meaning before, and via, meaning way. Vasa previa can therefore be understood to mean roughly, “vessels in the way of the baby.”
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17q21.31 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.
Click on the coloured link’s below for more help.
The chromosome 17q21.31 microdeletion syndrome has been renamed. The condition is now called the Koolen de Vries syndrome (KdVS; MIM #610443). The syndrome is caused by either the fact that a small part of chromosome 17 is missing (17q21.31 microdeletion) or a defect in a single gene: the KANSL1-gene.
Koolen-de Vries syndrome 17q21.31 Microdeletion syndrome Questionnaire
Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two congenital malformations for which the molecular bases of syndromic forms are being identified at a rapid rate. In particular, the EFTUD2 gene encoding a protein of the spliceosome complex has been found mutated in patients with MFD and microcephaly (MIM610536). Until now, no syndrome featuring both MFD and OA has been clearly delineated.
We report on 10 cases presenting with MFD, eight of whom had OA, either due to de novo 17q21.31 deletions encompassing EFTUD2 and neighbouring genes or de novo heterozygous EFTUD2 loss-of-function mutations. No EFTUD2 deletions or mutations were found in a series of patients with isolated OA or isolated oculoauriculovertebral spectrum (OAVS).
These data exclude a contiguous gene syndrome for the association of MFD and OA, broaden the spectrum of clinical features ascribed to EFTUD2 haploinsufficiency, define a novel syndromic OA entity, and emphasise the necessity of mRNA maturation through the spliceosome complex for global growth and within specific regions of the embryo during development. Importantly, the majority of patients reported here with EFTUD2 lesions were previously diagnosed with Feingold or CHARGE syndromes or presented with OAVS plus OA, highlighting the variability of expression and the wide range of differential diagnoses.
Clinical Trails Finder
Finding the right clinical trial for 17q21.31 Microdeletion Syndrome can be challenging. However, with Trials-Finder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider – all without revealing your identity.
Unique Can Help
With a rare chromosome disorder from UK to around the World
What Can Unique Do To Help?
Having a child with a rare chromosome disorder can be a huge shock and can stir up a whole range of emotions and a great desire to learn more about your child’s disorder. Most of us who help run the group have been through these experiences and know how you are feeling. Most parents’ first reaction, quite understandably, is to “find” another, older child with the same disorder as their child. While this might be possible for some, it still does not mean that the two children will develop in the same way. However, just talking to other parents with a child with a rare chromosome disorder can be a great relief and can help to alleviate feelings of isolation and “why me?”
As part of its services, Unique runs telephone (+44 (0) 1883 723356) and email (email@example.com) helplines for new and existing member families and professionals to find out more information about the group and about specific rare chromosome disorders. We have developed and maintain a comprehensive offline computerised database detailing the lifetime effects of specific rare chromosome disorders among our members. By Spring 2013 over 10,000 families will have joined our membership, representing more than 14,000 individuals with a rare chromosome disorder registered on our database, the vast majority being new cases never reported in published medical journals. New families are joining us daily. If you go to our registered disorders page on this website you will be able to see all the different chromosomal disorders, with their genotypes where known, occurring among our members. The offline database can be used to link families on the basis of specific rare chromosome disorder. Often of more practical benefit, however, is to link families on the basis of problems as they arise, whether these are medical, developmental, behavioural, social, educational and so on. We also maintain close links with other similar groups around the world, thus increasing the “pool” of possible family contacts. Information about a specific rare chromosome disorder can be prepared from the Unique database while not revealing the identity of the families concerned.