Update on shyshy. On Wednesday she had an app with her geneticist he said the last round of test did not give him the answers that we were looking for. Then he said that there is a new genetic study that just came out and he wants and is going to get shyshy in that study. He did confirm that shyshy does have Ehlers-Danlos syndrome type 3 (EDS) and then he said she also has Hypohidrosis. Since she has that, that lead him to starting asking a whole new round of questions and by her medical history and her diagnoses he tells me that he believes she has Hypohidrotic ectodermal dysplasia (HED). He said he is pretty sure she has it and when she goes to the new genetic study he will have her tested for it to be 100% sure. I already have talk to shyshy regular doc about these new diagnoses and now she will have to see a rheumatologist, orthopedist, cardiologist, and ophthalmologist (she already sees this one) yearly. So for now I’m wanting on the referrals to go through to make these apps. I will also have to inform her dentist to at her next app next month and let them therapist know in her ot and pt. they will probably have to change up her therapy a lil bit tho. There is no cure for these diagnoses and she will never out grow them we will just have to keep on doing what we are doing for now. What is Ehlers-Danlos syndrome (EDS)? Ehlers-Danlos syndrome (EDS), hypermobility type 3 is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft or velvety and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising is common. Functional bowel disorders are likely underrecognized. Autonomic dysfunction, such as orthostatic intolerance, may also be seen. Aortic root dilation is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common. What is Hypohidrotic ectodermal dysplasia (HED)? Hypohidrotic ectodermal dysplasia (HED) is a rare inherited multisystem disorder that belongs to the group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. HED is primarily characterized by partial or complete absence of certain sweat glands (eccrine glands), causing lack of or diminished sweating heat intolerance, and fever; abnormally sparse hair, and absence and/or malformation of certain teeth. Many individuals with HED also have characteristic facial abnormalities including a prominent forehead, a sunken nasal bridge (so-called saddle nose), unusually thick lips, and/or a large chin. The skin on most of the body may be abnormally thin, dry, and soft with an abnormal lack of pigmentation. However, the skin around the eyes may be darkly pigmented and finely wrinkled, appearing prematurely aged. In many cases, affected infants and children may also exhibit underdevelopment (hypoplasia) or absence (aplasia) of mucous glands within the respiratory and gastrointestinal tracts and, in some cases, decreased function of certain components of the immune system e.g., depressed lymphocyte function, cellular immune hypofunction, potentially causing an increased susceptibility to certain infections and/or allergic conditions. Many affected infants and children experience recurrent attacks of wheezing and breathlessness (asthma), respiratory infections; chronic inflammation of the nasal passages (atrophic rhinitis), scaling, itchy (pruritic) skin rashes (eczema), and/or other findings. What is Hypohidrosis? Hypohidrosis is diminished sweating in response to appropriate stimuli. It is the inability to sweat normally. When you dont perspire, your body cant cool itself, which can lead to overheating and sometimes to heatstroke — a potentially fatal condition.
Posted on: Sat, 26 Jul 2014 20:53:53 +0000
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