Thanks for checking it out Gimli,
It does contain a lot of interesting stuff and here's the links to my recent updates which some may find interesting if they're following this stuff
I'm finally getting my Leukodystrophy(Adult Refsum Disease) diet sorted out.
I also finally pretty much almost completed my medical history display map so others can sort of understand me much better as well as it's a super-lot of work I had to go through.
Here's the links to my recent updates since I last posted here.
#about my Leukodystrophy journey and medical history map.
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www.yongesterdam.com/for ··· 6#p35916Some new recipes since last post.
Cornbread Loaf
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www.yongesterdam.com/for ··· 8#p35788Amy's Chili W/Tofu
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www.yongesterdam.com/for ··· 4#p35804Soup(Tomato)
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www.yongesterdam.com/for ··· 5#p35805Forbidden Rice Ramen(Miso Soup Varient)
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www.yongesterdam.com/for ··· 9#p35819Also the included attachments adds the new modifications though it may be tough to scan so I added 'Post update june 2015:' so one could do a find for it or check first link here.
Here's my updated post included here - Though a paragraph is snipped out.
Hello Kind folks,
This is taken from my private diary to be added here so others can know where I'm at on my journey
I also updated my map to be more complete so one can get a much better understanding of what I have to watch out for as no one really understands my medical history but me as it was taught to me since I was very young as they knew no one else would be able to monitor this stuff properly like I can.
I am doing much better today after eliminating cheese, butter, beef, lamb in the diet for 6 months or so now and replaced it with things like chicken, turkey, artificial cheese, earth balance or becel vegan spread instead of butter kind of thing.
I have mapped recently about my Leukodystrophy and I finally nailed it down to Adult Refsum Disease for being my leukodystrophy type, I also added future reference of things I have to look out for and known allergies to help one sort of understand my complexities a bit better.
I am now on a very small refsum disease support mailing-list which has been informative at times for me in the past few months which is a small community of about 100 people around the world. Some are from refsumdisease.org which has been a wealth of support for me when it comes to the Chelsea Westminster Adult Refsum Disease dietary guidelines, And they have approved some of my recipes I have done to be ARD safe with a twist.
Also Lorenzo's Oil did not work very well for me long-term I had to discontinue it early which I believe was related to Erucic Acid from Canola and that's one oil I don't touch as I remember how well I did not tolerate Canola well for reasons really not well understood.
Here's some more information about my Refsum Disease I have found interesting.
source:
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ulf.org/refsum-diseaseRefsum Disease
What causes Refsum disease?
The peroxisome is responsible for the breakdown of certain branched chain fatty acids. A common branched chain fatty acid, phytanic acid, is shown below. It is different from the straight chain fatty acid shown above in that it has branches of carbon groups off the main carbon chain (branches are colored in blue).
Phytanic acid is a component of our diet, and therefore needs to be digested properly. The peroxisome is responsible for the breakdown of phytanic acid, and impairment of this specific function results in Refsum disease.
What are the clinical symptoms of Refsum disease?
Patients with Refsum disease do not generally show any obvious defects at birth, and growth and development appears normal. Initial symptoms will generally appear by age 20, although patients have been known who do not display symptoms until around age 50. The initial complaints usually involve vision problems, and/or weakness in the arms and legs. The disease is progressive, although there can be periods of unexplained remission. Below is a list of the most common symptoms of Refsum disease. We have included the clinical terms as well as a description of their meaning.
Retinitis pigmentosa: Retinitis pigmentosa is a disease of the eye, resulting from degeneration of a part of the eye called the retina. It affects night vision and peripheral vision, and eventually can lead to blindness.
Peripheral polyneuropathy: Peripheral polyneuropathy is the term for dysfunction of the nerves outside of the spinal cord. Symptoms may include numbness, weakness, burning pain, and loss of reflexes.
Deafness: loss of hearing
Cerebellar ataxia: Ataxia is wobbliness. Cerebellar ataxia refers to the fact that the defect is in a specific part of the brain (the cerebellum), and the incoordination and unsteadiness is due to the brains failure to regulate the bodys posture, as well as the strength and direction of the bodys movements.
Anosmia: loss of the sense of smell
Papillary abnormalities: abnormality of the pupils of the eye
Nystagmus: rapid, involuntary, rhythmic eye movements
Icthyosis: Icthyosis is a noninflammatory scaliness of the skin. These symptoms can range anywhere from scaliness of the palms and soles of the feet to scaliness on the trunk of the body.
Epiphyseal dysplasia: The epiphysus is the growth area at the end of a bone, while dysplasia means abnormal formation. This means that patients with Refsum disease often have shortened limbs.
How is Refsum disease diagnosed?
As we mentioned above, Refsum disease results from an inability to break down a particular molecule known as phytanic acid. Therefore, Refsum disease can be confirmed by a simple blood test that measures the levels of phytanic acid.
In addition, most known cases of Refsum disease result from defects in a protein known as phytanoyl-CoA hydroxylase, or PAHX. There are some common mutations which have been identified, which can allow family members to be screened in order to determine if they are carriers of the gene responsible for the disease. This can allow them to make informed decisions about having children.
What is the prognosis of Refsum disease?
Prognosis of Refsum disease varies dramatically. Strict adherence to a dietary regimen (see treatment, below) can cause the neurological symptoms to arrest, and nerve response can improve. Weakness, problems with walking, and scaliness of the skin can also improve. Prior to the initiation of dietary therapy, more than half of patients died before age 30. However, since the introduction of dietary therapy, very few patients have died so young.
What are the possible treatments for Refsum disease?
Nearly all phytanic acid is obtained from the diet, which means that dietary control is an option for Refsum disease. Patients are advised to keep consumption of phytanic acid below 10 mg/day (the normal intake is approximately 100 mg/day). Sources of high levels of phytanic acid include beef, lamb, full cream, milk, butter, and cheese. It is important to be careful to maintain weight, because loss of weight can cause release of stored phytanic acid from fat tissues. This results in an increase in plasma phytanic acid levels, and can lead to a worsening of symptoms. If there is difficulty reducing levels of phytanic acid in the plasma, sometimes plasmapheresis (replacement of the plasma) can help.
Also here's my updated diagnostic map/information taken from a private post here.
Unintended Pregnancy -- Pregnancy not intended
Adult Refsum Disease(PHYH) Retinitis Pigmentosa, deafblindness -- Affects 1 per million
Spondyloepiphyseal Dysplasia(Dwarfism) -- Affects 1 per 100,000 -- (Refsum Disease)
Leukodystrophy(Refsum Disease)
Usher Syndrome type 2 (WHRN) - Retinitis Pigmentosa, deafblindness -- Affects 1 per 23,000
Chiari Malformation type IV - brain fell out of my head disorder -- Affects 1 per 1000
Syringomyelia - Syrinx -- Affects 8.4 per 100,000
Klippel-Feil(Fusion of C6-C7) -- Affects 1 in 40,000
Myasthenia Gravis - Lambert-Eaton Syndrome - Paraneoplastic syndrome - autoimmune diseases
^ Myasthenia affects 1-30 cases per million - Lambert-Eaton Syndrome(Only 400 people living at any time in the USA with LES/LEMS at any given time) - Paraneoplastic syndrome - Affects Unknown. /
Paraneoplastic Syndrome(Myasthenia Gravis/Lambert-Eaton Syndrome/Small cell Carcinoma(50% possibility of coming lung cancer/possibly others.)
Demyelinating CNS disease - Borderline MS -- Affects unknown --(Myasthenia Gravis)
Muscular Dystrophy(FSHD type) - deafblindness -- Affects unknown
Morvans Chorea -- Affects ultra rare(Apparently like 18 reported cases in English literature)
Migraines/headaches -- More common
Coats disease - Exudative Retinitis, From Muscular Dystrophy deafblindness -- Affects .75 per 100,000/million
Posterior Subcapsular Cataracts - Had surgery and likely caused by Retinitis Pigmentosa/Immunosuppresants
Irlen syndrome - Visual Stress, Scotopic sensitivity syndrome, something like dyslexia -- Affects unknown
Dermatitis Herpetiformis / Celiac disease(90% likely but not 100% confirmed due to my DH diagnosis if one has DH then 90% they have celiac but 10% chance I do not have it.) -- More common
Very Diverse pharmaceutical allergies that may sometimes cause cervical fractures.
Things to watch out for that could come in relation to Myasthenia Gravis
Rheumatoid Arthritis
Graves Disease
Dmeylinating CNS Disease
Diabetes type 1
Small Cell Carcinoma
Misdiagnosis
PTSD - (Definitely misdiagnosis)
Restless Legs Syndrome(Definitely misdiagnosis)
Stiff person syndrome(Definitely misdiagnosis)
Known Allergies
Phytanic acid, Gluten, Penicillin(Many antibiotics IE:, Zithromax, Cipro, Neomycin, Gentamycin), Many beta blockers(IE: Propranolol), benzodiazeapines(IE: Clonazepam, Lorazepam, Triazolam), steroids(IE: Prednisolone), Magnesium, Botox, Quinine, Procainamide, Ketek, Calcium Channel Blockers(IE: Verapramil), Ibuprofen/Advil(Refsum Disease), Dexedrine, neuromuscular blocking agents, respiratory depressants IE: sedatives, hypnotics have to be used with caution in Myasthenics.
A list of specialists I may see to go with all this stuff to help someone get a bigger picture of this complex stuff.
Audiology,Ophthalmology,Dermatologist,Allergist,Dietician,Deaf-blind intervenor,Nephrologist
Genetic Specialist,Oncology(Paraneoplastic),Neurology,Neurosurgeon,General Practitioner
Cardiologist,Ear Nose and throat,X-ray/Radiologist, Endocrinologist
Have a good day