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Thursday, February 28, 2013
Wednesday, February 27, 2013
Rare Disease Posts
Although there are so many more rare diseases, I wanted to provide links to all the posts I made this month on those diseases that I featured. I think I will continue featuring a rare disease periodically.
Rare Disease 1 - Epidermolysis Bullosa
Rare Disease 2 - Progeria
Rare Disease 3 - Osteogenesis Imperfecta
Rare Disease 4 - Wilson's Disease
Rare Disease 5 - Krabbe Disease
Rare Disease 6 - Schindler Disease
Rare Disease 7 - Angelman Syndrome
Rare Disease 8 - Stills Disease
Rare Disease 9 - Duchenne Muscular Dystrophy
Rare Disease 10 - Leber's Congenital Amaurosis
Rare Disease 11 - Huntington's Disease
Rare Disease 12 - Eosinophilic Esophagitis
Rare Disease 13 - Giant Axonal Neuropathy
Rare Disease 14 - Williams Syndrome
Rare Disease 15 - Jeune's Syndrome
Rare Disease 16 - Gaucher Disease
Rare Disease 17 - Phenylketonuria (PKU)
Rare Disease 18 - Sandhoff Disease
Rare Disease 19 - Cockayne Syndrome
Rare Disease 20- Atypical Hemolytic Uremic Syndrome
Rare Disease 21 - Stiff Person Syndrome
Rare Disease 22 - Noonan Syndrome
Rare Disease 23 - Maple Syrup Urine Syndrome
Rare Disease 24 - Moebius Syndrome
Rare Disease 25 - Batten Disease
Rare Disease 26 - Sanfilippo Disease
Please re-read these at any time and share them with others.
Rare Disease 1 - Epidermolysis Bullosa
Rare Disease 2 - Progeria
Rare Disease 3 - Osteogenesis Imperfecta
Rare Disease 4 - Wilson's Disease
Rare Disease 5 - Krabbe Disease
Rare Disease 6 - Schindler Disease
Rare Disease 7 - Angelman Syndrome
Rare Disease 8 - Stills Disease
Rare Disease 9 - Duchenne Muscular Dystrophy
Rare Disease 10 - Leber's Congenital Amaurosis
Rare Disease 11 - Huntington's Disease
Rare Disease 12 - Eosinophilic Esophagitis
Rare Disease 13 - Giant Axonal Neuropathy
Rare Disease 14 - Williams Syndrome
Rare Disease 15 - Jeune's Syndrome
Rare Disease 16 - Gaucher Disease
Rare Disease 17 - Phenylketonuria (PKU)
Rare Disease 18 - Sandhoff Disease
Rare Disease 19 - Cockayne Syndrome
Rare Disease 20- Atypical Hemolytic Uremic Syndrome
Rare Disease 21 - Stiff Person Syndrome
Rare Disease 22 - Noonan Syndrome
Rare Disease 23 - Maple Syrup Urine Syndrome
Rare Disease 24 - Moebius Syndrome
Rare Disease 25 - Batten Disease
Rare Disease 26 - Sanfilippo Disease
Please re-read these at any time and share them with others.
Tuesday, February 26, 2013
Rare Disease 26 - Sanfilippo Disease
Today I'm making a bit different post. An online friend of mine helped me make contact with a distant relative that has a child with Sanfilippo Disease. This post is what she asked me to post for awareness. This information is from the National MPS Society:
Here is a video as well:
MPS III (Sanfilippo syndrome)
MPS III is a mucopolysaccharide disease also known as Sanfilippo syndrome. It takes its name from Dr. Sylvester Sanfilippo, who was one of the doctors in the United States who described the condition in 1963.
What causes this disease?
Mucopolysaccharides are long chains of sugar molecule used in the building of connective tissues in the body.
· “saccharide” is a general term for a sugar molecule (think of saccharin)
· “poly” means many
· “muco” refers to the thick jelly-like consistency of the molecules
There is a continuous process in the body of replacing used materials and breaking them down for disposal. Children with MPS III are missing an enzyme which is essential inbreaking downthe used mucopolysaccharides called heparan sulfate. The incomplete broken down mucopolysaccharides remain stored in cells in the body causing progressive damage. Babies may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear.
Are there different forms of this disease?
To date, four different enzyme deficiencies have been found to cause MPS III, described as type A, B, C or D.
There is usually very little difference between the four types of the disease, but there have been some very mild cases of the B form where the affected individuals have remained relatively healthy into adult life.
How common are these diseases?
The incidence of MPS III (all four types combined) is estimated to be 1 in 70,000 births. Type A is the most common one in Northwestern Europe, type B in Southeastern Europe, and types C and D are rare everywhere.
How is the disease inherited?
We all have genes inherited from our parents which control whether we are tall, short, fair, etc. Some genes we inherit are “recessive,” that is to say we carry the gene but it does not have any affect on our development. MPS III is caused by a recessive gene. If the adult carrying the abnormal gene marries another carrier there will be a one in four chance with every pregnancy that the child will inherit the defective gene from each parent and will be affected with the disease. There is a two in three chance that unaffected brothers and sisters of MPS III patients will be carriers. They can be reassured, however, as the disease is so rare, the chance of marrying another carrier is very slight provided they do not marry a cousin or other close family member.
Is there a cure?
At present there is no cure for any of the mucopolysaccharide diseases.Enzyme replacement therapy (ERT)has been approved by the FDA for several of the MPS diseases, but ERT has not been shown to be effective in MPS III. Bone marrow transplants have been tried on individuals with MPS III, but with disappointing results. Gene therapy, chaperone therapy and intrathecal enzyme therapy are a few of the treatments for MPS III where research is ongoing.
How does the disease progress?
The disease will affect children differently, and its progress will be much faster in some individuals than in others. Change will usually be very gradual, and therefore, easier to adjust to.
The child’s pre-school years may be a very frustrating stage for the parents. They begin to worry as their child starts to lag behind their friends’ children in development, and they may feel they are being blamed for the child’s overactive and difficult behavior.
The diagnosis is often made very late as some children do not look abnormal, and their symptoms are among the most common seen in all children. The doctor has to be perceptive enough to recognize that something serious is wrong and ask for urine and blood tests to help reach a diagnosis. It is not unusual for families to have one or more affected children before the diagnosis is established. Some children are extremely active andrestlesswith verydifficult behavior. Some children sleep very little at night. Many will be into everything. Many like to chew: hands, clothes or anything they can get hold of.
Sadly, language and understanding will gradually be lost and parents may find it hard not being able to have a conversation with their child. Many will find other ways of communicating. Some children never become toilet trained, and those who do will eventually lose the ability.
As children with MPS III syndrome get older, they begin to slow down. They become unsteady on their feet, tending to fall frequently as they walk or run. Eventually they lose the ability to walk. Life may be more peaceful in some ways, but parents will need help with the physically tiring task of caring for an immobile child or teenager.
All families of affected children should seek further information from their doctor or from a Genetic Counselor.
Here is a video as well:
Monday, February 25, 2013
5 for Five - Week 8
It's a new week! That means a new installment of 5 for Five with Jenn and Jessica! See the blogs participating by clicking on the button on the left or below.
Last week's goals:
This week was better than last week. Hope I can keep it going for another week!
Last week's goals:
1. Do taxes!
Done! Not filed, but done!
2. Read 10 newspapers
I read 8, so I kept pace, but didn't gain on the pile
3. Use juicer
Not this week.
4. Schedule as many rare disease posts as possible for the rest of the month
I scheduled 4 posts.
5. Get those plants done!
I watered them, but haven't trimmed them yet.
This week was better than last week. Hope I can keep it going for another week!
This week's goals:
1. Read 10 newspapers.
2. Trim the plants.
3. Do some decluttering.
4. Write some regular blog posts.
5. Order one FREE credit report for each of us. (www.annualcreditreport.com)
Rare Disease 25 - Batten Disease
From Wikipedia:
Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood. It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs). Although Batten disease is usually regarded as the juvenile form of NCL (or "type 3"), some physicians use the term Batten disease to describe all forms of NCL. Historically, the NCLs were classified by age of disease onset as infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). At least twenty genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the CLN3 gene.
I was personally introduced to Batten disease through an online medical supply and equipment exchange. There is a wonderful, beautiful young lady who lives about 30 minutes from me with Batten disease. Her mother has maintained a blog about her journey. I proudly wear my purple "Coming Together for Kaitlin" bracelet next to my Niemann-Pick Disease bracelets.
Here is a short Public Service Announcement created by the Batten Disease Support and Research Association:
The Global Genes blog also featured a post about Taylor, another young woman fighting with Batten Disease.
Here is one more story of a little boy, Elijah, who also has Batten Disease.
The "cheat sheet" about Batten Disease from the National Library of Medicine is here.
Batten Disease is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood. It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs). Although Batten disease is usually regarded as the juvenile form of NCL (or "type 3"), some physicians use the term Batten disease to describe all forms of NCL. Historically, the NCLs were classified by age of disease onset as infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). At least twenty genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the CLN3 gene.
I was personally introduced to Batten disease through an online medical supply and equipment exchange. There is a wonderful, beautiful young lady who lives about 30 minutes from me with Batten disease. Her mother has maintained a blog about her journey. I proudly wear my purple "Coming Together for Kaitlin" bracelet next to my Niemann-Pick Disease bracelets.
Here is a short Public Service Announcement created by the Batten Disease Support and Research Association:
The Global Genes blog also featured a post about Taylor, another young woman fighting with Batten Disease.
Here is one more story of a little boy, Elijah, who also has Batten Disease.
The "cheat sheet" about Batten Disease from the National Library of Medicine is here.
Batten Disease is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Sunday, February 24, 2013
Rare Disease 24 - Moebius Syndrome
From Wikipedia:
Möbius syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions. Limb and chest wall abnormalities sometimes occur with the syndrome. People with Möbius syndrome have normal intelligence, although their lack of facial expression is sometimes incorrectly taken to be due to dullness or unfriendliness. It is named for Paul Julius Möbius, a neurologist who first described the syndrome in 1888.
Here is a video created by one individual who is affected by Moebius
The Moebius Syndrome Foundation has started an Awareness Day on January 24 each year. Their logo is
Earlier this month, a California TV station reported on a doctor giving a child a smile (after the commercial)
Moebius Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Möbius syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions. Limb and chest wall abnormalities sometimes occur with the syndrome. People with Möbius syndrome have normal intelligence, although their lack of facial expression is sometimes incorrectly taken to be due to dullness or unfriendliness. It is named for Paul Julius Möbius, a neurologist who first described the syndrome in 1888.
Here is a video created by one individual who is affected by Moebius
The Moebius Syndrome Foundation has started an Awareness Day on January 24 each year. Their logo is
Earlier this month, a California TV station reported on a doctor giving a child a smile (after the commercial)
Moebius Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Saturday, February 23, 2013
Rare Disease 23 - Maple Syrup Urine Syndrome
From Wikipedia:
Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine.
A more non-scientific description from The MSUD Family Support Group:
Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder. If untreated, MSUD causes mental retardation, physical disabilities and death. First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. The national incidence is 1 in 225,000 births.
MSUD derives its name from the sweet, burnt sugar, or maple syrup smell of the urine. The disorder affects the way the body metabolizes (processes) certain components of protein, the three branched-chain amino acids—leucine, isoleucine, and valine. These amino acids accumulate in the blood and become toxic to the brain.
The same website also has a list of recipe categories for low-protein foods.
Here is a very short video with the basics about MSUD:
The "cheat sheet" about MSUD from the National Library of Medicine is here.
MSUD is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine.
A more non-scientific description from The MSUD Family Support Group:
Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder. If untreated, MSUD causes mental retardation, physical disabilities and death. First described as a disease in 1954, it is a rare disorder, believed to be in all ethnic groups worldwide. The national incidence is 1 in 225,000 births.
MSUD derives its name from the sweet, burnt sugar, or maple syrup smell of the urine. The disorder affects the way the body metabolizes (processes) certain components of protein, the three branched-chain amino acids—leucine, isoleucine, and valine. These amino acids accumulate in the blood and become toxic to the brain.
The same website also has a list of recipe categories for low-protein foods.
Here is a very short video with the basics about MSUD:
The "cheat sheet" about MSUD from the National Library of Medicine is here.
MSUD is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Friday, February 22, 2013
Rare Disease 22 - Noonan Syndrome
From Wikipedia:
Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect (typically pulmonary valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. It is a RASopathy, as the syndrome is in the family of RAS-MAPK pathway disorders.
It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.
The Noonan Syndrome Support Group has many patient stories. I happened to randomly pick Misty and Matt and their son Logan. While reading their story, I realized that they did what many parents do - they did their own research and demanded their son be tested for a disease which everyone has "ruled out" because the symptoms don't fit the profile.
Here is an awareness video on Noonan Syndrome:
The "cheat sheet" about Noonan Syndrome from the National Library of Medicine is here.
Noonan Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both males and females equally. It used to be referred to as the male version of Turner's syndrome however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect (typically pulmonary valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. It is a RASopathy, as the syndrome is in the family of RAS-MAPK pathway disorders.
It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age.
The Noonan Syndrome Support Group has many patient stories. I happened to randomly pick Misty and Matt and their son Logan. While reading their story, I realized that they did what many parents do - they did their own research and demanded their son be tested for a disease which everyone has "ruled out" because the symptoms don't fit the profile.
Here is an awareness video on Noonan Syndrome:
The "cheat sheet" about Noonan Syndrome from the National Library of Medicine is here.
Noonan Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Thursday, February 21, 2013
Rare Disease 21 - Stiff Person Syndrome
From Wikipedia:
Stiff person syndrome (SPS) (or stiff-man syndrome; also known as Moersch-Woltman Condition) is a rare neurologic disorder of unknown etiology characterized by progressive rigidity and stiffness, primarily of the axial musculature, that is superimposed by spasms, resulting in postural deformities. There are also sub-variants: stiff baby syndrome and stiff limb syndrome. Other forms or types of the disease include focal SPS, jerking SPS, and progressive encephalomyelitis with rigidity and myoclonus.
One person affected shared her desire to run a 5K with the NORD blog. She details her live with SPS on several websites, including her main webpage, and her blog and her Facebook page.
SPS was on the show Mystery Diagnosis:
SPS is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Stiff person syndrome (SPS) (or stiff-man syndrome; also known as Moersch-Woltman Condition) is a rare neurologic disorder of unknown etiology characterized by progressive rigidity and stiffness, primarily of the axial musculature, that is superimposed by spasms, resulting in postural deformities. There are also sub-variants: stiff baby syndrome and stiff limb syndrome. Other forms or types of the disease include focal SPS, jerking SPS, and progressive encephalomyelitis with rigidity and myoclonus.
One person affected shared her desire to run a 5K with the NORD blog. She details her live with SPS on several websites, including her main webpage, and her blog and her Facebook page.
SPS was on the show Mystery Diagnosis:
SPS is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Wednesday, February 20, 2013
Rare Disease 20 - Atypical Hemolytic Uremic Syndrome
From Wikipedia:
Atypical hemolytic uremic syndrome (aHUS) is a very rare, life-threatening, progressive disease that frequently has a genetic component. In most cases it is caused by chronic, uncontrolled activation of the complement system, a branch of the body’s immune system that destroys and removes foreign particles. The disease affects both children and adults and is characterized by systemic thrombotic microangiopathy (TMA), the formation of blood clots in small blood vessels throughout the body, which can lead to stroke, heart attack, kidney failure, and death. The complement system activation may be due to mutations in the complement regulatory proteins (factor H, factor I, or membrane cofactor protein), or is occasionally due to acquired neutralizing autoantibody inhibitors of these complement system components, for example anti–factor H antibodies. Despite the use of supportive care, historically an estimated 33-40% of patients died or developed end-stage renal disease (ESRD) with the first clinical bout of aHUS. Including subsequent relapses, a total approximately two-thirds (65%) of patients died, required dialysis, or had permanent renal damage within the first year after diagnosis despite plasma exchange or plasma infusion (PE/PI).
Here is one video of one child from the video page of The Foundation for Children with Atypical HUS:
aHUS is one of the rare diseases that has a treatment that was approved in 2011 for the treatment of both adults and children.
aHUS is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Atypical hemolytic uremic syndrome (aHUS) is a very rare, life-threatening, progressive disease that frequently has a genetic component. In most cases it is caused by chronic, uncontrolled activation of the complement system, a branch of the body’s immune system that destroys and removes foreign particles. The disease affects both children and adults and is characterized by systemic thrombotic microangiopathy (TMA), the formation of blood clots in small blood vessels throughout the body, which can lead to stroke, heart attack, kidney failure, and death. The complement system activation may be due to mutations in the complement regulatory proteins (factor H, factor I, or membrane cofactor protein), or is occasionally due to acquired neutralizing autoantibody inhibitors of these complement system components, for example anti–factor H antibodies. Despite the use of supportive care, historically an estimated 33-40% of patients died or developed end-stage renal disease (ESRD) with the first clinical bout of aHUS. Including subsequent relapses, a total approximately two-thirds (65%) of patients died, required dialysis, or had permanent renal damage within the first year after diagnosis despite plasma exchange or plasma infusion (PE/PI).
Here is one video of one child from the video page of The Foundation for Children with Atypical HUS:
aHUS is one of the rare diseases that has a treatment that was approved in 2011 for the treatment of both adults and children.
aHUS is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Tuesday, February 19, 2013
Rare Disease 19 - Cockayne Syndrome
From Wikipedia:
Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. The underlying disorder is a defect in a DNA repair mechanism.
The Cockayne Syndrome Network has a page of videos of children affected, including this child:
Cockayne Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. The underlying disorder is a defect in a DNA repair mechanism.
The Cockayne Syndrome Network has a page of videos of children affected, including this child:
Cockayne Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Monday, February 18, 2013
5 for Five - Week 7
It's a new week! That means a new installment of 5 for Five with Jenn and Jessia! See the blogs participating by clicking on the button on the left or below.
Last week's goals:
This week was better than last week. Hope I can keep it going for another week!
Last week's goals:
1. Read 10 newspapers
I read 2. That's an improvement over last week, but it isn't helping me get rid of the pile any quicker.
2. Trim the plants (had this on the list a few weeks ago)
Looked at them a few times... again, bad, bad, bag. I watered them, but didn't trim them.
3. Use my juicer
I made sour apple and kiwi once. Really should have used red apples instead of green.....
4. Schedule some more rare disease posts
Scheduled three posts for this week before they were due! I also started a few more, so I just need to add the "finishing" touches.
5. Do some decluttering around the house.
Nope.
This week was better than last week. Hope I can keep it going for another week!
This week's goals:
1. Do taxes!
2. Read 10 newspapers
3. Use juicer
4. Schedule as many rare disease posts as possible for the rest of the month
5. Get those plants done!
Rare Disease 18 - Sandhoff Disease
From Wikipedia:
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues and some oligosaccharides. Accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death. The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from Tay-Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S. There are three subsets of Sandhoff disease based on when first symptoms appear: classic infantile, juvenile and adult late onset.
I saw this amazing photo on the http://sandhoffdisease.webs.com/ webpage:
A father in Australia wrote a blog about his daughter's fight with Sandhoff. You can read it here.
Sandoff Disease is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues and some oligosaccharides. Accumulation of these metabolites leads to a progressive destruction of the central nervous system and eventually to death. The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from Tay-Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S. There are three subsets of Sandhoff disease based on when first symptoms appear: classic infantile, juvenile and adult late onset.
I saw this amazing photo on the http://sandhoffdisease.webs.com/ webpage:
A father in Australia wrote a blog about his daughter's fight with Sandhoff. You can read it here.
Sandoff Disease is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Sunday, February 17, 2013
Rare Disease 17 - Phenylketonuria (PKU)
From Wikipedia:
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine (Phe) to the amino acid tyrosine. When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.
Untreated PKU can lead to mental retardation, seizures, and other serious medical problems. The mainstream treatment for classic PKU patients is a strict PHE-restricted diet supplemented by a medical formula containing amino acids and other nutrients. In the United States, the current recommendation is that the PKU diet should be maintained for life.Patients who are diagnosed early and maintain a strict diet can have a normal life span with normal mental development. However, recent research suggests that neurocognitive, psychosocial, quality of life, growth, nutrition, bone pathology are slightly suboptimal if diet is not supplemented with amino acids.
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Here is a video about managing PKU from PKU.com:
The same website has a good list of recipes that do not look too difficult to make and look tasty.
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The "cheat sheet" about PKU from the National Library of Medicine is here.
PKU is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine (Phe) to the amino acid tyrosine. When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine.
Untreated PKU can lead to mental retardation, seizures, and other serious medical problems. The mainstream treatment for classic PKU patients is a strict PHE-restricted diet supplemented by a medical formula containing amino acids and other nutrients. In the United States, the current recommendation is that the PKU diet should be maintained for life.Patients who are diagnosed early and maintain a strict diet can have a normal life span with normal mental development. However, recent research suggests that neurocognitive, psychosocial, quality of life, growth, nutrition, bone pathology are slightly suboptimal if diet is not supplemented with amino acids.
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Here is a video about managing PKU from PKU.com:
The same website has a good list of recipes that do not look too difficult to make and look tasty.
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The "cheat sheet" about PKU from the National Library of Medicine is here.
PKU is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Rare Disease 16 - Gaucher Disease
From Wikipedia:
Gaucher's disease is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). Glucosylceramidase can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.
Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.
The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About 1 in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450.
--------------------
There was some very promising news that came out last week about treatment of Gaucher Disease:
Genzyme reports encouraging data for Gaucher disease drug candidate
Genzyme is also researching treatments for Niemann-Pick Type B, including enzyme replacement therapy. A drug currently used to treat Gaucher's, migulstat, is also used to stem the effects of Niemann-Pick Type C, although there are some potentially significant side effects to its use in NPC patients.
--------------------
The "cheat sheet" about Gaucher Disease from the National Library of Medicine is here.
Gaucher Disease is just one of 7,000 rare diseases, most without cures
and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Gaucher's disease is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). Glucosylceramidase can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.
Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.
The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About 1 in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450.
--------------------
There was some very promising news that came out last week about treatment of Gaucher Disease:
Genzyme reports encouraging data for Gaucher disease drug candidate
Genzyme is also researching treatments for Niemann-Pick Type B, including enzyme replacement therapy. A drug currently used to treat Gaucher's, migulstat, is also used to stem the effects of Niemann-Pick Type C, although there are some potentially significant side effects to its use in NPC patients.
--------------------
The "cheat sheet" about Gaucher Disease from the National Library of Medicine is here.
Rare Disease Day is February 28, 2013.
Friday, February 15, 2013
Rare Disease 15 - Jeune's Syndrome
From About.com (Wikipedia didn't have anything):
Jeune syndrome, also known as asphyxiating thoracic dystrophy, is an inherited form of dwarfism which produces short limbs, a small chest, and kidney problems. It is estimated to occur in 1 per 100,000-130,000 live births, and affects people of all ethnic backgrounds.
Symptoms
Individuals with Jeune syndrome have some physical characteristics in common:
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When I started writing this series, I had several people contact me to have their rare disease featured. One such family is the Mollica's. Their son Joseph has Jeune's Syndrome. They have a public Caring Bridge page here.
Another mother (who I found through an Internet search) has started a blog about her son Will and their life with Jeune's Syndrome. If you click here you can read the "short version" and see a video.
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Jeune's Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Jeune syndrome, also known as asphyxiating thoracic dystrophy, is an inherited form of dwarfism which produces short limbs, a small chest, and kidney problems. It is estimated to occur in 1 per 100,000-130,000 live births, and affects people of all ethnic backgrounds.
Symptoms
Individuals with Jeune syndrome have some physical characteristics in common:
- A long, narrow, and abnormally small chest with reduced lung capacity
- Short arms and legs compared to trunk and overall small stature (short- limbed dwarfism)
- Kidney lesions which may lead to kidney failure
- Intestinal malabsorption
- Retinal degeneration
- Liver problems
- Heart and circulatory problems
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When I started writing this series, I had several people contact me to have their rare disease featured. One such family is the Mollica's. Their son Joseph has Jeune's Syndrome. They have a public Caring Bridge page here.
Another mother (who I found through an Internet search) has started a blog about her son Will and their life with Jeune's Syndrome. If you click here you can read the "short version" and see a video.
------------------
Jeune's Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Thursday, February 14, 2013
Rare Disease 14 - Williams Syndrome
From Wikipedia:
Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia.
It is caused by a deletion of about 26 genes from the long arm of chromosome 7. The syndrome was first identified in 1961 by New Zealander Dr. J. C. P. Williams and has an estimated prevalence of 1 in 7,500 to 1 in 20,000 births.
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An interesting characteristic of those with Williams Syndrome (from with Williams Syndrome Association):
Most individuals with Williams syndrome have an affinity to music. They are touched by music in ways not usually seen in the general population. It is quite common for those with Williams syndrome to be reduced to tears by classical music, disturbed by music played in minor chords or moved to dance and laugh by playful and "happy" music.
-------------------------
Check out this video from Williams Syndrome Changing Lives Foundation:
The "cheat sheet" about Williams Syndome from the National Library of Medicine is here.
Williams Syndrome is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Williams syndrome (WS or WMS; also Williams–Beuren syndrome or WBS) is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia.
It is caused by a deletion of about 26 genes from the long arm of chromosome 7. The syndrome was first identified in 1961 by New Zealander Dr. J. C. P. Williams and has an estimated prevalence of 1 in 7,500 to 1 in 20,000 births.
------------------
An interesting characteristic of those with Williams Syndrome (from with Williams Syndrome Association):
Most individuals with Williams syndrome have an affinity to music. They are touched by music in ways not usually seen in the general population. It is quite common for those with Williams syndrome to be reduced to tears by classical music, disturbed by music played in minor chords or moved to dance and laugh by playful and "happy" music.
-------------------------
Check out this video from Williams Syndrome Changing Lives Foundation:
The "cheat sheet" about Williams Syndome from the National Library of Medicine is here.
Rare Disease Day is February 28, 2013.
Wednesday, February 13, 2013
Rare Disease 13 - Giant axonal neuropathy
From Wikipedia:
Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function.
Giant axonal neuropathy usually appears in infancy or early childhood, and is progressive. Early signs of the disorder often present in the peripheral nervous system, causing individuals with this disorder to have problems walking. Later, normal sensation, coordination, strength, and reflexes become affected. Hearing or vision problems may also occur. Abnormally kinky hair is characteristic of giant axonal neuropathy, appearing in almost all cases. As the disorder progresses, central nervous system becomes involved, which may cause a gradual decline in mental function, loss of control of body movement, and seizures.
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A little girl who lives near me, Hannah, was diagnosed with GAN in 2008. Since then her family has hosted many fundraisers and poured their heart and soul into learning about the disease and helping others.
Here is their most recent video:
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GAN is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function.
Giant axonal neuropathy usually appears in infancy or early childhood, and is progressive. Early signs of the disorder often present in the peripheral nervous system, causing individuals with this disorder to have problems walking. Later, normal sensation, coordination, strength, and reflexes become affected. Hearing or vision problems may also occur. Abnormally kinky hair is characteristic of giant axonal neuropathy, appearing in almost all cases. As the disorder progresses, central nervous system becomes involved, which may cause a gradual decline in mental function, loss of control of body movement, and seizures.
------------------
A little girl who lives near me, Hannah, was diagnosed with GAN in 2008. Since then her family has hosted many fundraisers and poured their heart and soul into learning about the disease and helping others.
Here is their most recent video:
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GAN is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Tuesday, February 12, 2013
Rare Disease 12 - Eosinophilic Esophagitis
From Wikipedia:
Eosinophilic esophagitis (eosinophilic oesophagitis) is an allergic inflammatory condition of the esophagus. Symptoms are swallowing difficulty, food impaction, and heartburn. The disease was first described in children but occurs in adults as well. The condition is not well understood, but food allergy may play a significant role.
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This disease caught my eye on the Patient Stories section of the Global Genes website. Here is one girls story:
Your baby is born. You count ten fingers and ten toes. Everything’s
perfect. Your baby “seems” healthy. When my daughter Samantha was born
in 1997, she was a perfect pink bundle of joy. I assumed she was as
healthy as her older brother, Carmen. As the months and years went by,
her health became an issue. She vomited constantly, suffered from severe
reflux, stomach pain, and diarrhea. At the age of 10, after years of
being misdiagnosed, she was diagnosed with Eosinophilic Esophagitis.
Eosinophilic Esophagitis (EoE) is a rare white blood cell disease. It is characterized by elevated eosinophils in the esophagus. It is an auto-immune disease that causes the body to think food is a parasite and attacks itself. It causes the body to be allergic to many or all foods. This disease affects both children and adults. There is no cure.
Symptoms include vomiting, severe stomach pain, diarrhea, reflux that doesn’t respond to medicine, food impaction, difficulty swallowing, joint pain, throat clearing, chest pain, difficulty sleeping.
When Samantha was diagnosed, it was very scary. Suddenly, everything became a struggle. It takes a huge toll on the child and family. Family dinners, holidays and parties became stressful or non-existent. Samantha was put on rounds of steroids that seemed to mask her symptoms but did not take away the EoE cell counts. She has to undergo countless endoscopies, colonoscopies, blood tests, ultrasounds, MRI’s, allergy tests, etc. Doctor visits became the norm.
It often causes friction with family and friends who simply do not understand the severity of the disease. People will often comment on how well she looks. They do not realize that even though she is beautiful on the outside, her insides are being destroyed by the very thing she needs to survive. Food.
When Samantha was 12, her doctor decided that we should try the top 6 food elimination diet (milk, eggs, wheat, soy, nuts and seafood). We also eliminated corn and beef. Grocery shopping became a nightmare. Every label had to be read. This helped her cell count somewhat but EoE symptoms persisted.
At age 13, in January 2011, we made one of the hardest decisions ever. Samantha and I sat down with her doctor and discussed how to get her better, lower her cell counts and figure out which food(s) were causing the EoE. That month, she went through major surgery and had a G tube (gastronomy tube) placed in her stomach. My child would lose ALL food and would be fed strictly through the feeding tube a special hypo-allergenic formula. We would wipe the slate clean and start over from scratch, reintroducing one food at a time. Food trials have been stressful, painful and discouraging. Right now, all Samantha eats is white potato and her formula feeds.
School is a big hurdle for EoE kids. Samantha attends school in Cape Coral with her special backpack that contains her formula and feeding pump. Countless days of school are missed. She is enrolled in home-bound programs as well.
Ironically, Samantha loves to cook and bake and exceeds in her culinary class at school. Through all the pain and suffering, Samantha remains a strong, brave kid with a great attitude. In the meantime, we continue to pray for a cure.
That’s all we can do.
Susan Santora McArthur
Samantha’s Mom
Please visit us on YouTube: http://www.youtube.com/watch?v=-zBBS6Vd6Wg
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Additional information on EoE can be found here.
EoE is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Eosinophilic esophagitis (eosinophilic oesophagitis) is an allergic inflammatory condition of the esophagus. Symptoms are swallowing difficulty, food impaction, and heartburn. The disease was first described in children but occurs in adults as well. The condition is not well understood, but food allergy may play a significant role.
-------------
This disease caught my eye on the Patient Stories section of the Global Genes website. Here is one girls story:
Allergic To Eating Food – Samantha Lives With Rare White Blood Cell Disease Called Eosinophilic Esophagitish
August 5, 2012 by Leave a Comment
Depsite being unable to eat from Eosinophilic Esophagitis, Samantha loves to cook and bake.
Eosinophilic Esophagitis (EoE) is a rare white blood cell disease. It is characterized by elevated eosinophils in the esophagus. It is an auto-immune disease that causes the body to think food is a parasite and attacks itself. It causes the body to be allergic to many or all foods. This disease affects both children and adults. There is no cure.
Symptoms include vomiting, severe stomach pain, diarrhea, reflux that doesn’t respond to medicine, food impaction, difficulty swallowing, joint pain, throat clearing, chest pain, difficulty sleeping.
When Samantha was diagnosed, it was very scary. Suddenly, everything became a struggle. It takes a huge toll on the child and family. Family dinners, holidays and parties became stressful or non-existent. Samantha was put on rounds of steroids that seemed to mask her symptoms but did not take away the EoE cell counts. She has to undergo countless endoscopies, colonoscopies, blood tests, ultrasounds, MRI’s, allergy tests, etc. Doctor visits became the norm.
It often causes friction with family and friends who simply do not understand the severity of the disease. People will often comment on how well she looks. They do not realize that even though she is beautiful on the outside, her insides are being destroyed by the very thing she needs to survive. Food.
When Samantha was 12, her doctor decided that we should try the top 6 food elimination diet (milk, eggs, wheat, soy, nuts and seafood). We also eliminated corn and beef. Grocery shopping became a nightmare. Every label had to be read. This helped her cell count somewhat but EoE symptoms persisted.
At age 13, in January 2011, we made one of the hardest decisions ever. Samantha and I sat down with her doctor and discussed how to get her better, lower her cell counts and figure out which food(s) were causing the EoE. That month, she went through major surgery and had a G tube (gastronomy tube) placed in her stomach. My child would lose ALL food and would be fed strictly through the feeding tube a special hypo-allergenic formula. We would wipe the slate clean and start over from scratch, reintroducing one food at a time. Food trials have been stressful, painful and discouraging. Right now, all Samantha eats is white potato and her formula feeds.
School is a big hurdle for EoE kids. Samantha attends school in Cape Coral with her special backpack that contains her formula and feeding pump. Countless days of school are missed. She is enrolled in home-bound programs as well.
Ironically, Samantha loves to cook and bake and exceeds in her culinary class at school. Through all the pain and suffering, Samantha remains a strong, brave kid with a great attitude. In the meantime, we continue to pray for a cure.
That’s all we can do.
Susan Santora McArthur
Samantha’s Mom
Please visit us on YouTube: http://www.youtube.com/watch?v=-zBBS6Vd6Wg
--------------
Additional information on EoE can be found here.
EoE is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Rare Disease 11 - Huntington's Disease
From Wikipedia:
Huntington's disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems. It typically becomes noticeable in mid-adult life. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea, which is why the disease used to be called Huntington's chorea.
Life expectancy in HD is generally around 20 years following the onset of visible symptoms.Most life-threatening complications result from muscle coordination and, to a lesser extent, behavioral changes induced by declining cognitive function. The largest risk is pneumonia, which causes death in one third of those with HD. As the ability to synchronize movements deteriorates, difficulty clearing the lungs and an increased risk of aspirating food or drink both increase the risk of contracting pneumonia. The second greatest risk is heart disease, which causes almost a quarter of fatalities of those with HD Suicide is the next greatest cause of fatalities, with 7.3% of those with HD taking their own lives and up to 27% attempting to do so. It is unclear to what extent suicidal thoughts are influenced by psychiatric symptoms, as they signify sufferers' desires to avoid the later stages of the disease. Other associated risks include choking, physical injury from falls, and malnutrition.
A video from The Huntington's Disease Project
The Huntington's Disease Society of America has a section titled "The Faces of HD" which highlight those who have lived with the disease or have family members affected by the disease. The list also highlights those who have helped advance treatment. Please take a minute to read some of these stories.
The "cheat sheet" about Huntington's from the National Library of Medicine is here.
Rare Disease Day is February 28, 2013.
Huntington's disease (HD) is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems. It typically becomes noticeable in mid-adult life. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea, which is why the disease used to be called Huntington's chorea.
Life expectancy in HD is generally around 20 years following the onset of visible symptoms.Most life-threatening complications result from muscle coordination and, to a lesser extent, behavioral changes induced by declining cognitive function. The largest risk is pneumonia, which causes death in one third of those with HD. As the ability to synchronize movements deteriorates, difficulty clearing the lungs and an increased risk of aspirating food or drink both increase the risk of contracting pneumonia. The second greatest risk is heart disease, which causes almost a quarter of fatalities of those with HD Suicide is the next greatest cause of fatalities, with 7.3% of those with HD taking their own lives and up to 27% attempting to do so. It is unclear to what extent suicidal thoughts are influenced by psychiatric symptoms, as they signify sufferers' desires to avoid the later stages of the disease. Other associated risks include choking, physical injury from falls, and malnutrition.
A video from The Huntington's Disease Project
The Huntington's Disease Society of America has a section titled "The Faces of HD" which highlight those who have lived with the disease or have family members affected by the disease. The list also highlights those who have helped advance treatment. Please take a minute to read some of these stories.
The "cheat sheet" about Huntington's from the National Library of Medicine is here.
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Huntington's is just one of 7,000 rare diseases, most without cures and very
few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.Rare Disease Day is February 28, 2013.
Monday, February 11, 2013
5 for Five - Week 6
It's a new week! That means a new installment of 5 for Five with Jenn and Jessia! See the blogs participating by clicking on the button on the left or below.
Last week's goals:
Ok, so this was a really bad week. Let's hope next week is better. I'm keeping most of the same goals. Let's hope I have better success.
Last week's goals:
1. Read 10 newspapers
Didn't even look at one! Bad, bad, bad
2. Trim the plants (had this on the list a few weeks ago)
Looked at them a few times... again, bad, bad, bad
3. Go grocery shopping
Did get a few things, so I guess this one is a success.
4. Schedule some more rare disease posts
Scheduled one post before the day it posted...need to do more.
5. Do some decluttering around the house.
Nope.
Ok, so this was a really bad week. Let's hope next week is better. I'm keeping most of the same goals. Let's hope I have better success.
This week's goals:
1. Read 10 newspapers
2. Trim the plants (had this on the list a few weeks ago)
3. Use my juicer.
4. Schedule some more rare disease posts
5. Do some decluttering around the house.
Sunday, February 10, 2013
Rare Disease 10 - Leber's Congenital Amaurosis
From Wikipedia:
Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population. The term congenital refers to a condition present from birth (not acquired) and Amaurosis refers to a loss of vision not associated with a lesion. However, beyond these general descriptions, the presentation of LCA can vary, because it is associated with multiple genes.
Here is one story about a 3 year old patient with LCA. The parents documented his improvement with therapy and assistance.
Those affected are considered legally blind and therefore are able to work with the Associations for the Blind and obtain guide dogs and other resources available.
The inspiration for this disease was an entry on the Rare Disease Day US Facebook page from Wednesday, February 6, 2013:
Mitchell is blind from CRB1-LCA, a degenerative retinal disease. One of Mitchell's favorite places is the beach... any beach! He loves to compare the beaches of different coasts - he notes the differences in sand textures, water temperatures, waves, etc. The Curing Retinal Blindness Foundation is funding research for Mitchell's CRB1 gene so that one day Mitchell will SEE all the differences in the beaches, he'll SEE the boats on the water, and SEE the sand structures he builds!
The Curing Retinal Blindness Foundation can be found here.
Rare Disease Day is February 28, 2013.
Leber's congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population. The term congenital refers to a condition present from birth (not acquired) and Amaurosis refers to a loss of vision not associated with a lesion. However, beyond these general descriptions, the presentation of LCA can vary, because it is associated with multiple genes.
Here is one story about a 3 year old patient with LCA. The parents documented his improvement with therapy and assistance.
Those affected are considered legally blind and therefore are able to work with the Associations for the Blind and obtain guide dogs and other resources available.
The inspiration for this disease was an entry on the Rare Disease Day US Facebook page from Wednesday, February 6, 2013:
Mitchell is blind from CRB1-LCA, a degenerative retinal disease. One of Mitchell's favorite places is the beach... any beach! He loves to compare the beaches of different coasts - he notes the differences in sand textures, water temperatures, waves, etc. The Curing Retinal Blindness Foundation is funding research for Mitchell's CRB1 gene so that one day Mitchell will SEE all the differences in the beaches, he'll SEE the boats on the water, and SEE the sand structures he builds!
The Curing Retinal Blindness Foundation can be found here.
-------------------------
LCA is just one of 7,000 rare diseases, most without cures and very
few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.Rare Disease Day is February 28, 2013.
Saturday, February 9, 2013
Rare Disease 9 - Duchenne muscular dystrophy
From Wikipedia:
Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and eventual death.[1] The disorder is caused by a mutation in the dystrophin gene, located on the human X chromosome, which codes for the protein dystrophin, an important structural component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. While both sexes can carry the mutation, females rarely exhibit signs of the disease.
The FDA is hosting a webinar on February 20, 2013
Here is a video:
Here is an article about a mother who is fighting to get an experimental treatment for one of her two sons with the disease. One son is on on the treatment, the other is not, because of the different progression of the disease.
The "cheat sheet" about DMD from the National Library of Medicine is here.
Rare Disease Day is February 28, 2013.
Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and eventual death.[1] The disorder is caused by a mutation in the dystrophin gene, located on the human X chromosome, which codes for the protein dystrophin, an important structural component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. While both sexes can carry the mutation, females rarely exhibit signs of the disease.
The FDA is hosting a webinar on February 20, 2013
Duchenne
Muscular Dystrophy Patient Advocacy Community Therapies
Webinar
on Expedited Pathways and Expanded Access
Wednesday,
February 20, 2013
4:00
p.m. Eastern
Here is an article about a mother who is fighting to get an experimental treatment for one of her two sons with the disease. One son is on on the treatment, the other is not, because of the different progression of the disease.
The "cheat sheet" about DMD from the National Library of Medicine is here.
-------------------------
DMD is just one of 7,000 rare diseases, most without cures and very
few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.Rare Disease Day is February 28, 2013.
Friday, February 8, 2013
Rare Disease 8 - Still's Disease
There are 2 distinct forms of Still's Disease
From Wikipedia:
Adult-onset Still's disease is a systemic inflammatory disease. The classic presentation is the triad of persistent high spiking fever, joint pain and a distinctive salmon-colored rash. Serum ferritin, a protein that binds iron, is elevated.
Juvenile idiopathic arthritis (JIA) (aka Juvenile Rheumatoid Arthritis JRA) is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) It is an autoimmune disorder. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants.
It is sometimes called "adolescent-onset Still's disease", to distinguish it from adult-onset Still's disease. However, there is some evidence that the two conditions are closely related.
From the International Still's Disease Foundation:
Still’s disease is a rare and often misunderstood disease which strikes both children and adults.
Here is a video from Creaky Joints about what Still's Disease is and what the options are
Rare Disease Day is February 28, 2013.
From Wikipedia:
Adult-onset Still's disease is a systemic inflammatory disease. The classic presentation is the triad of persistent high spiking fever, joint pain and a distinctive salmon-colored rash. Serum ferritin, a protein that binds iron, is elevated.
Juvenile idiopathic arthritis (JIA) (aka Juvenile Rheumatoid Arthritis JRA) is the most common form of arthritis in children and adolescents. (Juvenile in this context refers to an onset before age 16, idiopathic refers to a condition with no defined cause, and arthritis is the inflammation of the synovium of a joint.) It is an autoimmune disorder. The disease commonly occurs in children from the ages of 7 to 12, but it may occur in adolescents as old as 15 years of age, as well as in infants.
It is sometimes called "adolescent-onset Still's disease", to distinguish it from adult-onset Still's disease. However, there is some evidence that the two conditions are closely related.
From the International Still's Disease Foundation:
Still’s disease is a rare and often misunderstood disease which strikes both children and adults.
Still’s disease is a form of arthritis that is characterized by high spiking fevers and evanescent (transient) salmon-colored rash.
Still’s disease was first described in children, but it is now known to
occur, much less commonly, in adults (in whom it is referred to as
Adult-Onset Still’s Disease).
Here is a video from Creaky Joints about what Still's Disease is and what the options are
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Still's Disease is just one of 7,000 rare diseases, most without cures and very
few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.Rare Disease Day is February 28, 2013.
Thursday, February 7, 2013
Rare Disease 7 - Angelman Syndrome
From Wikipedia:
Angelman syndrome is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing so it is no longer the accepted term, though it is sometimes still used as an informal term of diagnosis. People with AS are sometimes known as "angels", both because of the syndrome's name and because of their youthful, happy appearance.
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The Angelman Syndrome Foundation is sponsoring:
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AS is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
Angelman syndrome is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing so it is no longer the accepted term, though it is sometimes still used as an informal term of diagnosis. People with AS are sometimes known as "angels", both because of the syndrome's name and because of their youthful, happy appearance.
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The Angelman Syndrome Foundation is sponsoring:
15 Ways to Celebrate the 15th
The Angelman Syndrome Foundation is excited to celebrate the first ever-International Angelman Day on February 15th.
To help raise awareness for Angelman syndrome across the world and in your hometown, the ASF has developed a list of 15 simple things you can do to contribute.
With your help, we can all give them a reason to smile.
The Angelman Syndrome Foundation is excited to celebrate the first ever-International Angelman Day on February 15th.
To help raise awareness for Angelman syndrome across the world and in your hometown, the ASF has developed a list of 15 simple things you can do to contribute.
With your help, we can all give them a reason to smile.
Here is a video from 2010 showing some of the faces of Angelman Syndrome and the symptoms of the disease.
AS is just one of 7,000 rare diseases, most without cures and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.
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