February 28th is Rare Disease Day: I wanted to spend some time on this because many of our customers have rare diseases and/or Celiac Disease, Food Allergies or Autism. Think about it, 20 years ago, most never heard of any of these and now you hear about them. In this post I will highlight some of the Rare Diseases that can intertwine with Autism, Celiac Disease and Food Allergies.
I definitely see and hear it all via our wonderful customers; especially when it comes to rare diseases. You can’t imagine what these brave men, women and children go through… along with their families! Below are some of those rare diseases and a brief overview of each; please review and be aware. Awareness leads to diagnosis and funding for research.
-So, in honor of our customers and their families who have had to fight, scream and claw to get a doctor to take them seriously; in order to get a diagnosis other than “hypochondriac”; this is for all of you. Each one of you are a “hero” in my eyes and I am so grateful to you for sharing your experiences with me while you are dining here.
-Dysautonomia- is actually not rare, over 70 million people worldwide live with various forms of it. This can also occur secondary to other medical conditions, such as diabetes, multiple sclerosis, rheumatoid arthritis, celiac, Sjogren’s syndrome, lupus, and Parkinson’s. Currently there is no cure for dysautonomia. However, secondary forms can improve with treatment of the underlying disease.
‘Dysautonomia’ is really just an ‘umbrella term’ that describes several different medical conditions that cause a malfunction of the Autonomic Nervous System. ‘The Autonomic Nervous System controls the “automatic” functions of the body’ those are the functions that we don’t have to think about in order for our body to perform the functions. Examples would be: “heart rate, blood pressure, digestion, dilation and constriction of the pupils of the eye, kidney function, and temperature control.” Basically, those who have certain forms of dysautonomia will have difficulty regulating these systems “which can result in lightheadedness, fainting, unstable blood pressure, abnormal heart rates, malnutrition, and in severe cases, death”.
-People of any age, gender or race can be impacted. There is no cure for any form of dysautonomia at this time, but Dysautonomia International is funding research to develop better treatments, and hopefully someday a cure for each form of dysautonomia. Despite the high prevalence of dysautonomia, most patients take years to get diagnosed due to a lack of awareness amongst the public and within the medical profession.
Some of the different forms of dysautonomia include:
1) POTS (Postural Orthostatic Tachycardia Syndrome)-
“estimated to impact 1 out of 100 teenagers and, including adult patients, a total of 1,000,000 to 3,000,000 Americans. POTS can cause lightheadness, fainting, tachycardia, chest pains, shortness of breath, GI upset, shaking, exercise intolerance, temperature sensitivity and more. While POTS predominantly impacts young women who look healthy on the outside, researchers compare the disability seen in POTS to the disability seen in conditions like COPD and congestive heart failure.”
2) Neurocardiogenic Syncope (NCS)- is the most common form of dysautonomia. “NCS impacts tens of millions of individuals worldwide. Many individuals with NCS have a mild case, with fainting spells once or twice in their lifetime. However, some individuals have severe NCS which results in fainting several times per day, which can lead to falls, broken bones and sometimes traumatic brain injury. Individuals with moderate to severe NCS have difficulty engaging in work, school and social activities due to the frequent fainting attacks.”
3) Multiple System Atrophy (MSA)- is a fatal form of dysautonomia that occurs in adult ages 40 and up. A neurodegenertive disorder, it has some similarities to Parkinson’s disease. However, unlike Parkinson’s patients, those afflicted with MSA usually are “fully bedridden within a 2 years of diagnosis and die within 5-10 years”. MSA is a rare disease, with estimate of only 350,000 patients in the world. “There are some treatments available to improve quality of life, both with medications and lifestyle changes/adaptations, but even using all treatments available, many dysautonomia patients experience disabling symptoms that significantly reduce their quality of life”.
Dysautonomia International encourages you to learn more:
-Ehlers Danlos Syndrome (EDS)-
is an inherited connective tissue disorder and can present in different ways which have been classified into several types. “It primarily affects your skin joints, muscles and blood vessel walls. EDS is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen. The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. In some cases, the severity of the mutation can be life-threatening.””There is no cure for EDS, and treatment includes close monitoring of the digestive, excretory and particularly the cardiovascular systems. Occupational and physical therapy, bracing, and corrective surgery may help with the frequent injuries and pain that tend to develop in certain types of EDS, although extra caution and special practices are advised to prevent permanent damage.”
Often misdiagnosed as a “hypochondriac”, the person suffering with EDS may also suffer from “depression, chronic fatigue syndrome and other conditions because EDS is considered an invisible disability and there is generally poor knowledge about EDS among practitioners.” Many sufferers have psychological difficulties which are a direct result of frustration with the medical profession and the difficulty of having to appear “normal” while being in very real and very severe pain. There are support groups who try to raise awareness about EDS among the general public and medical professionals.
-Gastroparesis- means stomach paralysis and “is a condition in which the spontaneous movement of the muscles (motility) in your stomach does not function normally.” Normal muscle contractions move food through your digestive system. However, in gastroparesis, “your stomach’s motility works poorly or not at all”. This means your stomach will not empty properly. “Gastroparesis can interfere with normal digestion, cause nausea and vomiting, and cause problems with blood sugar levels and nutrition.”
The cause of is usually unknown. “When this is the case, it’s called idiopathic gastroparesis (IG). When people who have diabetes develop gastroparesis, it’s called diabetic gastroparesis (DG). Some people develop gastroparesis after surgery. There is no cure for gastroparesis, but changes to your diet, along with medication, can offer some relief. ” For more info use link below.
-Mast Cell Activation Disorder-
Mastocytosis is one of the mast cell diseases. It is a rare disorder that affects children and adults. It is caused by “the presence of too many mast cells or mastocytes and mast cell precursors. Those afflicted often experience itching, hives and anaphylactic shock “caused by the release of histamine from mast cells”. However, it appears that the “current classifications and diagnostic criteria are being reviewed to better describe the collection of related disorders”. Mast cell disorders are found on the skin, internal organs, bowel, throat.
“Because mast cells play a role in allergic reactions, the symptoms of mastocytosis often are similar to the symptoms of an allergic reaction.” Some symptoms are:
- Fatigue, Skin lesions and itching, Abdominal Discomfort,Nausea and Vomitting, Diarrhea, Food and Drug Intolerance, Intolerance to Smells, Infections like bronchitis, rhinitis, conjunctivitis, Inflammation of Ear/nose/throat, Anaphylaxis (shock from allergic or immune causes), low blood pressure (shock & fainting), bone/muscle pain, decreased bone density or increased bone density (like osteoporosis or osteosclerosis), headache, vision discomfort and malabsorption.
-PANDAS- (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections)
“This term is used to describe a subset of children who have OCD or Tic Disorders (Tourettes Syndrome) and their symptoms worsen after a strep throat infection or scarlet fever. Characterized by a dramatic, “overnight” onset of symptoms, including motor or vocal tics, obsessions, and/or compulsions. In addition to these symptoms, children may also become moody, irritable or show concerns about separating from parents or loved ones. This abrupt onset is generally preceeded by a strep throat infection.” Some of the children with this also have ASD (autism spectrum disorder).