given my Addison the prob. is actually even a bit greater but the last 10 or 15% are to be closed by that expensive ABCD1 sequencing, the only test I can by no means pay out of the pocket. The treatment options at my age and stage are zero.
the NEUROLOGISTS at Charité didn't want to give me an appointment although I sent them the result on my VLCFAs being over the french (more sensitive) limits. But maybe they work with the old gerrrman limits? The PPV of the french limits is 85%, I have thus ALD with 85% probability.
there is such a wide gap between my state 10 years ago and now that I seriously blame France to have pushed me over the edge. I believed 10ys ago I had 'overcome Addison's disease by raw food (tropical fruit) diet'..it's still true in a way..nearly.
October 9, 2026 at 7:35 PM
given my Addison the prob. is actually even a bit greater but the last 10 or 15% are to be closed by that expensive ABCD1 sequencing, the only test I can by no means pay out of the pocket. The treatment options at my age and stage are zero.
I cancelled an appointment in 2025 at Charité, shortly before departing to France, maybe it was not nice but all the tests would have to be repeated in France. But now the situation is that the ABCD1 sequencing would make diagnosis definite and even a MRT of the brain is not needed as I think.
the NEUROLOGISTS at Charité didn't want to give me an appointment although I sent them the result on my VLCFAs being over the french (more sensitive) limits. But maybe they work with the old gerrrman limits? The PPV of the french limits is 85%, I have thus ALD with 85% probability.
there is such a wide gap between my state 10 years ago and now that I seriously blame France to have pushed me over the edge. I believed 10ys ago I had 'overcome Addison's disease by raw food (tropical fruit) diet'..it's still true in a way..nearly.
October 9, 2026 at 8:11 PM
I cancelled an appointment in 2025 at Charité, shortly before departing to France, maybe it was not nice but all the tests would have to be repeated in France. But now the situation is that the ABCD1 sequencing would make diagnosis definite and even a MRT of the brain is not needed as I think.
I have now in two weeks another appointment with my endocrinologist and I think the ABCD1 sequencing is overdue. and then.. everything else is illusive..maybe they have an inflammation suppressing medicament to offer but these mostly do not work. I think I would not even survive HSCT.
I am now even thinking about refusing all brain imagery since even a MRT could probably hurt my poor ALD brain like i can't even JOG (sprinting yes). MRT generates a strong magnetic field. what i am doing thus there?
in addition i would not give consent to neither HSCD nor gene therapy in ALD since the risks are FAR too great and the treatments obviously not even half understood cf below. i am not their guinea pig.TROPICAL FRUIT DIET!!
October 7, 2026 at 9:24 PM
I have now in two weeks another appointment with my endocrinologist and I think the ABCD1 sequencing is overdue. and then.. everything else is illusive..maybe they have an inflammation suppressing medicament to offer but these mostly do not work. I think I would not even survive HSCT.
'But even after a 10–15 year period of stability, sudden onset of rapid neurologic deterioration may occur, reflecting a full progression to the neuroinflammatory stage of the disease" the treacherous stat. phase of ACALD pmc.ncbi.nlm.nih.gov/articles/PMC...
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved...
pmc.ncbi.nlm.nih.gov
October 8, 2026 at 5:32 AM
'But even after a 10–15 year period of stability, sudden onset of rapid neurologic deterioration may occur, reflecting a full progression to the neuroinflammatory stage of the disease" the treacherous stat. phase of ACALD pmc.ncbi.nlm.nih.gov/articles/PMC...
"A urodynamic study (not done for our patient) demonstrates the presence of detrusor overactivity and detrusor dyssynergia, indicating spinal cord dysfunction. These symptoms in female carriers usually appear in middle age and slowly progress with age" GREAT pmc.ncbi.nlm.nih.gov/articles/PMC...
October 2, 2026 at 8:07 PM
"A urodynamic study (not done for our patient) demonstrates the presence of detrusor overactivity and detrusor dyssynergia, indicating spinal cord dysfunction. These symptoms in female carriers usually appear in middle age and slowly progress with age" GREAT pmc.ncbi.nlm.nih.gov/articles/PMC...
"I am a 42 year old mother of 12 year old twins. I am terrified about what the future will hold for me and my physical health" I CAN STILL CHOOSE, should I do
the ABCD1 sequencing? It can change my family for generations to come. IS KNOWLEDGE ALWAYS BETTER?
the ABCD1 sequencing? It can change my family for generations to come. IS KNOWLEDGE ALWAYS BETTER?
terrible story of a family being completely devastated by the childhood form of ALD in the 70s and 80s, three brothers, cousins and so on all passed away doctors could do nothing www.inspire.com/groups/unite...
MY ALD STORY
My name is Shari. My family has been afflicted with Adrenoleukodystrophy since 1959. My mother Sandee had a younger brother, Robert, who died from
www.inspire.com
September 25, 2026 at 3:51 AM
"I am a 42 year old mother of 12 year old twins. I am terrified about what the future will hold for me and my physical health" I CAN STILL CHOOSE, should I do
the ABCD1 sequencing? It can change my family for generations to come. IS KNOWLEDGE ALWAYS BETTER?
the ABCD1 sequencing? It can change my family for generations to come. IS KNOWLEDGE ALWAYS BETTER?
"Whether the cellular changes that are caused by ABCD1‐deficiency in X‐ALD patients influence synthesis rate, processing or secretion of POMC‐derived peptides, remains to be investigated, and may add a further level of complexity" may explain why my ACTH is not really high anymore ever
"all clinical trials in X‐ALD have been conducted with very low numbers of patients." you inevitably become a guinea pig with that disease pmc.ncbi.nlm.nih.gov/articles/PMC...
Current and Future Pharmacological Treatment Strategies in X‐Linked Adrenoleukodystrophy
Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X‐linked adrenoleukodystrophy/adrenomyeloneuropathy (X‐ALD/AMN). Currently, the most efficient therapeutic opport...
pmc.ncbi.nlm.nih.gov
September 21, 2026 at 11:50 PM
"Whether the cellular changes that are caused by ABCD1‐deficiency in X‐ALD patients influence synthesis rate, processing or secretion of POMC‐derived peptides, remains to be investigated, and may add a further level of complexity" may explain why my ACTH is not really high anymore ever
but it shows that also TOO MUCH coconut fat is not great since it is not only about lowering saturated VLCFAs but also about lowering ALL TYPES of VLCFAs by activation of the complementary ABCD2 to ABCD1. My raw food diet was low cholesterol high MCTs, low VLCFAs almost automatically.
"This finding provides a link between ABCD2 expression& possible positive effects of cholesterol‐lowering compounds such as lovastatin" that means in turn that cholesterol reducing diet ACTIVATES ABCD2, so with a great diet you need no gene therapy whatsoever. Low fat, low cholesterol and high MCTs
"Thus, pharmacological induction of ABCD2 should be able to compensate for the lack of functional ABCD1 in X‐ALD patients, if the induction is sufficiently strong and targets disease relevant cell types" they mean here that ppl should be treated with their OWN but over expressed proteins, great idea
September 22, 2026 at 12:47 AM
but it shows that also TOO MUCH coconut fat is not great since it is not only about lowering saturated VLCFAs but also about lowering ALL TYPES of VLCFAs by activation of the complementary ABCD2 to ABCD1. My raw food diet was low cholesterol high MCTs, low VLCFAs almost automatically.
"Thus, pharmacological induction of ABCD2 should be able to compensate for the lack of functional ABCD1 in X‐ALD patients, if the induction is sufficiently strong and targets disease relevant cell types" they mean here that ppl should be treated with their OWN but over expressed proteins, great idea
"all clinical trials in X‐ALD have been conducted with very low numbers of patients." you inevitably become a guinea pig with that disease pmc.ncbi.nlm.nih.gov/articles/PMC...
Current and Future Pharmacological Treatment Strategies in X‐Linked Adrenoleukodystrophy
Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X‐linked adrenoleukodystrophy/adrenomyeloneuropathy (X‐ALD/AMN). Currently, the most efficient therapeutic opport...
pmc.ncbi.nlm.nih.gov
September 22, 2026 at 12:20 AM
"Thus, pharmacological induction of ABCD2 should be able to compensate for the lack of functional ABCD1 in X‐ALD patients, if the induction is sufficiently strong and targets disease relevant cell types" they mean here that ppl should be treated with their OWN but over expressed proteins, great idea
"all clinical trials in X‐ALD have been conducted with very low numbers of patients." you inevitably become a guinea pig with that disease pmc.ncbi.nlm.nih.gov/articles/PMC...
Current and Future Pharmacological Treatment Strategies in X‐Linked Adrenoleukodystrophy
Mutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X‐linked adrenoleukodystrophy/adrenomyeloneuropathy (X‐ALD/AMN). Currently, the most efficient therapeutic opport...
pmc.ncbi.nlm.nih.gov
September 21, 2026 at 11:49 PM
"all clinical trials in X‐ALD have been conducted with very low numbers of patients." you inevitably become a guinea pig with that disease pmc.ncbi.nlm.nih.gov/articles/PMC...
ABCD1 genetics costs 500eu, the cheapest I saw was in Lyon for 400eu, but for that you need the appointment with a 'genetic counselor' or at least your generalist has to approve it. it is EU law and not a good law since it is patronizing (if you pay for it!)
oc I already paid for half of the relevant tests in the last year from my own pocket so that there is a basis for a meaningful appointment at all ie the ALD stuff is already half diagnosed so to speak. But for the genetics I have simply not enough money, otherwise I would have the result already.
now got an appointment next week with my old endocrinologist resp. his assistant from FU Berlin. That was only possible after I GUESSED his email at a health centre in Berlin mitte. the email was nowhere available. Then in his reply he had his mobile phone #. I wouldn't have got any appoint. w/o it.
September 17, 2026 at 2:20 PM
ABCD1 genetics costs 500eu, the cheapest I saw was in Lyon for 400eu, but for that you need the appointment with a 'genetic counselor' or at least your generalist has to approve it. it is EU law and not a good law since it is patronizing (if you pay for it!)
September is #LeukodystrophyAwarenessMonth. Dr. Danielle Kim is studying ALD, a type of leukodystrophy that severely affects young boys. With funding from Arrivederci ALD and ABF, Dr. Kim is seeing if vitamin D could be a low-cost preventative therapy. buff.ly/UgfttYK
September 18, 2026 at 4:02 PM
September is #LeukodystrophyAwarenessMonth. Dr. Danielle Kim is studying ALD, a type of leukodystrophy that severely affects young boys. With funding from Arrivederci ALD and ABF, Dr. Kim is seeing if vitamin D could be a low-cost preventative therapy. buff.ly/UgfttYK
they have 2000ppl with neurol. disease phenotype here and 3 were additionally false-positive positive with the more sensitive cutoff (0.1, 0.02). Among these 3 was oc NOONE with Addison's disease. So practically you don't need much further testing in my case. pmc.ncbi.nlm.nih.gov/articles/PMC...
August 31, 2026 at 3:14 PM
they have 2000ppl with neurol. disease phenotype here and 3 were additionally false-positive positive with the more sensitive cutoff (0.1, 0.02). Among these 3 was oc NOONE with Addison's disease. So practically you don't need much further testing in my case. pmc.ncbi.nlm.nih.gov/articles/PMC...
"We suggest to use our new optimized cutoff values (Table 5), especially the two ratios (C24:0/C22:0 (< 1.0) and C26:0/C22:0 (< 0.02)), in combination with standard lipid profiles as a screening tool." pmc.ncbi.nlm.nih.gov/articles/PMC...
August 29, 2026 at 3:07 PM
"We suggest to use our new optimized cutoff values (Table 5), especially the two ratios (C24:0/C22:0 (< 1.0) and C26:0/C22:0 (< 0.02)), in combination with standard lipid profiles as a screening tool." pmc.ncbi.nlm.nih.gov/articles/PMC...
"Two of the three cases which were not recognized by a cutoff ≥ 0.02 for the ratio of C26:0/C22:0 presented with the mutation c.1816 T > C, p.S606P (both females), shown to be pathogenic" that german paper really proposes the LOWER cutoffs as in France pmc.ncbi.nlm.nih.gov/articles/PMC...
August 29, 2026 at 2:46 PM
"Two of the three cases which were not recognized by a cutoff ≥ 0.02 for the ratio of C26:0/C22:0 presented with the mutation c.1816 T > C, p.S606P (both females), shown to be pathogenic" that german paper really proposes the LOWER cutoffs as in France pmc.ncbi.nlm.nih.gov/articles/PMC...
"To increase sensitivity, we evaluated new cutoff values..ratio C24:0/C22:0 (< 1.0) and ratio C26:0/C22:0 (< 0.02)." this still has over 80% positive predictive value which is MUCH better than for instance the antibody gold standard in celiac disease pmc.ncbi.nlm.nih.gov/articles/PMC...
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy
X-linked Adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene resulting in the accumulation of very long chain fatty acids (VLCFA). X-ALD is the most common peroxisomal disorder with ...
pmc.ncbi.nlm.nih.gov
August 29, 2026 at 2:42 PM
"To increase sensitivity, we evaluated new cutoff values..ratio C24:0/C22:0 (< 1.0) and ratio C26:0/C22:0 (< 0.02)." this still has over 80% positive predictive value which is MUCH better than for instance the antibody gold standard in celiac disease pmc.ncbi.nlm.nih.gov/articles/PMC...
the german cutoffs are based on that paper here, but that is only one paper in many, I will now see if I get the other papers together who generally work with lower C26/C22 cutoffs between 0.02 and 0.025. But as I said, only one quotient needs to be positive. pmc.ncbi.nlm.nih.gov/articles/PMC...
August 29, 2026 at 2:36 PM
the german cutoffs are based on that paper here, but that is only one paper in many, I will now see if I get the other papers together who generally work with lower C26/C22 cutoffs between 0.02 and 0.025. But as I said, only one quotient needs to be positive. pmc.ncbi.nlm.nih.gov/articles/PMC...
With apologies, NYC, another missed opportunity. Love, your ABCD1 😉
August 27, 2026 at 5:45 AM
With apologies, NYC, another missed opportunity. Love, your ABCD1 😉
The authors included RRIDs in their in Communications Biology paper! Thanks for making your methods matter! #OpenResearch #accelerateopenscience #methodsmatter
Genetic analysis of the X-linked adrenoleukodystrophy gene ABCD1 in Drosophila uncovers a conserved phenotype - Communications Biology
This study establishes a Drosophila model of X linked adrenoleukodystrophy (X-ALD). Loss of fly Abcd1 causes VLCFA accumulation, reduced peroxisomes, and locomotor defects mirroring X ALD, offering a platform for variant analysis and drug screening.
doi.org
August 22, 2026 at 7:00 AM
The authors included RRIDs in their in Communications Biology paper! Thanks for making your methods matter! #OpenResearch #accelerateopenscience #methodsmatter
Primary adrenal insufficiency resulting in diagnosis of rare ABCD1 pathogenic variant in X-linked adrenoleukodystrophy. Read more in #JCEM Case Reports: https://bit.ly/4hDo4qV #AdrenalInsufficiency, #ABCD1 @endocrinesociety.bsky.social
Primary adrenal insufficiency resulting in diagnosis of rare ABCD1 pathogenic variant in X-linked adrenoleukodystrophy
Abstract. X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative demyelinating disorder with variable presentations. We report a case of a 32-ye
bit.ly
August 20, 2026 at 11:54 PM
Primary adrenal insufficiency resulting in diagnosis of rare ABCD1 pathogenic variant in X-linked adrenoleukodystrophy. Read more in #JCEM Case Reports: https://bit.ly/4hDo4qV #AdrenalInsufficiency, #ABCD1 @endocrinesociety.bsky.social
ABCD1個ずつ
かわらず渋すぎ
また手形買うしかないかなー
かわらず渋すぎ
また手形買うしかないかなー
August 12, 2026 at 12:37 PM
ABCD1個ずつ
かわらず渋すぎ
また手形買うしかないかなー
かわらず渋すぎ
また手形買うしかないかなー
a ketogenic diet is of course a no go in adrenoleukodystrophy. all fats are high in 'C26', these tables are in the end useless. pmc.ncbi.nlm.nih.gov/articles/PMC...
August 11, 2026 at 8:01 AM
a ketogenic diet is of course a no go in adrenoleukodystrophy. all fats are high in 'C26', these tables are in the end useless. pmc.ncbi.nlm.nih.gov/articles/PMC...
The complex #lipidome as a driver of tissue-specific pathology in #adrenoleukodystrophy
Stephan Kemp, Marc Engelen, Yorrick R. J. Jaspers @amsterdamumc.bsky.social #lipidomics #leukodystrophy #neuroinflammation
link.springer.com/article/10.1...
Stephan Kemp, Marc Engelen, Yorrick R. J. Jaspers @amsterdamumc.bsky.social #lipidomics #leukodystrophy #neuroinflammation
link.springer.com/article/10.1...
The complex lipidome as a driver of tissue-specific pathology in adrenoleukodystrophy - Molecular Neurodegeneration
X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, encoding a peroxisomal membrane transporter required for the import of very-lo...
link.springer.com
July 20, 2026 at 6:51 PM
The complex #lipidome as a driver of tissue-specific pathology in #adrenoleukodystrophy
Stephan Kemp, Marc Engelen, Yorrick R. J. Jaspers @amsterdamumc.bsky.social #lipidomics #leukodystrophy #neuroinflammation
link.springer.com/article/10.1...
Stephan Kemp, Marc Engelen, Yorrick R. J. Jaspers @amsterdamumc.bsky.social #lipidomics #leukodystrophy #neuroinflammation
link.springer.com/article/10.1...
New podcast: The Grey Zone in ABCD1 variant classification.
With Troy Lund and Stephan Kemp, we discuss risk-based approaches to interpreting variants in ALD and what this means for newborn screening.
🎧 open.spotify.com/episode/6VyQ...
or search for JIMD Podcasts wherever you like to listen.
With Troy Lund and Stephan Kemp, we discuss risk-based approaches to interpreting variants in ALD and what this means for newborn screening.
🎧 open.spotify.com/episode/6VyQ...
or search for JIMD Podcasts wherever you like to listen.
May 12, 2026 at 7:23 AM
New podcast: The Grey Zone in ABCD1 variant classification.
With Troy Lund and Stephan Kemp, we discuss risk-based approaches to interpreting variants in ALD and what this means for newborn screening.
🎧 open.spotify.com/episode/6VyQ...
or search for JIMD Podcasts wherever you like to listen.
With Troy Lund and Stephan Kemp, we discuss risk-based approaches to interpreting variants in ALD and what this means for newborn screening.
🎧 open.spotify.com/episode/6VyQ...
or search for JIMD Podcasts wherever you like to listen.
VUS ≠ surveillance.
In The Grey Zone Project, Lund et al. propose LPC-based risk stratification for ABCD1 variants detected via newborn screening.
Biochemistry — not variant label — determines monitoring intensity.
Read: doi.org/10.1002/jimd...
#ALD #NewbornScreening #RareDisease #JIMD
In The Grey Zone Project, Lund et al. propose LPC-based risk stratification for ABCD1 variants detected via newborn screening.
Biochemistry — not variant label — determines monitoring intensity.
Read: doi.org/10.1002/jimd...
#ALD #NewbornScreening #RareDisease #JIMD
February 11, 2026 at 5:43 AM
VUS ≠ surveillance.
In The Grey Zone Project, Lund et al. propose LPC-based risk stratification for ABCD1 variants detected via newborn screening.
Biochemistry — not variant label — determines monitoring intensity.
Read: doi.org/10.1002/jimd...
#ALD #NewbornScreening #RareDisease #JIMD
In The Grey Zone Project, Lund et al. propose LPC-based risk stratification for ABCD1 variants detected via newborn screening.
Biochemistry — not variant label — determines monitoring intensity.
Read: doi.org/10.1002/jimd...
#ALD #NewbornScreening #RareDisease #JIMD