Today’s post contains three autism videos. I was asked to give a presentation about treating autism with off-label drugs. This turned out to be quite easy to write, but it kept getting longer and longer. I think most people would need to watch it in two sittings and you do need to have a deep interest in the subject. I could have gone on for hours longer, there is much more to tell.
Click on the
settings to watch in HD, then you can read the slides clearly. In the lower right corner of YouTube, click
on the white cog shape, select quality and then HD.
I also include two very good videos by Tony Attwood, which are much lighter going, but really explain why Asperger’s and Autism are better understood when considered separately, albeit that they really are part of the same spectrum. They should be required viewing by anyone new to the subject of autism, parents in particular.
Personalized Medicine to
treat Autism using off-label generic drugs
This video was presented
at the conference: -
Autism - Challenges and Solutions
Moscow 18 May 2021
by Peter Lloyd-Thomas
EpiphanyASD
Here
are the excellent videos from Tony Attwood:-
Could It Be Asperger’s?
https://www.youtube.com/watch?v=LuZFThlOiJI
I will watch the videos some other time, but kudos for doing one more step to enabling people everywhere to learn and do more for asd kids.
ReplyDeleteWe just had our second ivig (first one in Nivember) and it will be 6 monthly 1gr/kg therapies. The first one wiped away all of her irrational fears the next day already. We are amazed.
Tatjana, good luck with the IVIG.
DeleteWhere did you get that done may I ask?
DeleteCongratulations, Peter! It's so important that you spread the word about the 'alternative reality for autism'.
ReplyDeleteEszter
Thanks Eszter, as my son approaches adulthood I am so glad I took a risk in 2012 and entered this 'alternative reality', where you treat the underlying neurological dysfunctions.
DeleteAll parents love their child with autism, but everyone's life is so much better when you treat autism with Personalized Medicine.
I look forward to watching this!
ReplyDeleteLG
Also couple of links that may be of interest to some here:
https://www.improvehealthresearch.com/about
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8002905/
Bad news - Amazon has just stopped selling NAC in the US. Supposedly because FDA classified it in 1960s as a drug (to treat tylenol OD).
LG, best stock up from iHerb, while they still sell it.
DeleteFortunately here in Canada we can still buy NAC even on Amazon. But I might stock up anyway just in case.
DeleteAm I blind, or where do I find the link to your presentation Peter?
ReplyDelete/Ling
https://youtu.be/jlv6nxrSWiQ
DeleteIt may depend on what device you are using, but there should be a Youtube thumbnail with my face on it. Then two with Tony Attwood.
You can click on that picture or the youtube link below it
Found it, thanks!
Delete/Ling
Hi Peter, I found this interesting research article relating to the causes of varying severity in autism. I find it really hard to understand though, since it seems really written for an audience of academic brain researchers, not sure if there`s a simpler version out there:
ReplyDeletehttps://www.frontiersin.org/articles/10.3389/fnhum.2019.00006/full?utm_source=ad&utm_medium=fb&utm_campaign=ba_sci_fnhum
Peter I think you should know that in the United States, NAC is being pulled from the shelves as an over-the-counter supplement after being available as an over-the-counter supplement for the last 57 years in the United States.
ReplyDeleteAre people dying in droves or else being injured even remotely from NAC? Nope. The very obvious reason it is being pulled is that it is very effective against lowering the symptoms of respiratory flu viruses among many other uses mentioned on this blog. It is sold out of just about everywhere and pulled from just about everywhere I can find.
This of course all follows a very consistent pattern of the FDA banning medicines and over the counter supplements in the last year which actually have documented proof at fighting the symptoms of COVID-19 with the justifications given by the FDA are always based upon a mountain of lies that get repeated adnauseum in American media and soon become fact. This includes the lies about Hydroxychloroquine causing heart palpitations (still banned even though the science journal posting this information was found to have committed fraud), talks about banning Ivermectin which has been used safely on livestock for many years (farmers would not give their animals a dangerous drug that would kill their livestock), among others.
It is not a conspiracy theory to suggest the FDA and American Government is actively trying to harm people who get COVID-19 or at least remove all possible alternatives to treating COVID-19 than getting vaccine injections while the companies that sell them keep moving the goalposts in terms of how many vaccine booster shots an individual would need in their life before they are "fully immune".
Peter, is the banning of NAC on the table in your neck of the woods?
I think that maybe in the US it's going to be sold at a higher price as a medication. My son and I have been sick, the Dr said it's probably Covid and the last NAC capsules were of great help, before that I had Neuropathy and POTS/Dysautonomia and it was also useful while I was diagnosed. NAC Sustain is a great supplement, it will be such a pitty if they stop making it.
DeleteNAC sustain is indeed great, I just ordered more in case they stop selling it on iHerb. I'll have enough for a year.
DeleteTyler, banning NAC as an OTC supplement is indeed a crazy idea.
ReplyDeleteWhere we live NAC, is widely used as a mucolytic and the effervescent version (Fuimucil) is sold in every pharmacy without prescription, it is made in Switzerland. I do not see a future problem with this, but it is not cheap. We use this once a day, plus NAC Sustain 3x.
The clever OTC version, NAC Sustain, is made in the US and I wonder for how long they will continue to make it. The cheap gelatin capsule versions are mainly sold under US brand names and I wonder what will happen to those. I presume the NAC powder itself comes from China and they are not going to stop making it.
It is a very unhelpful development.
Jarrow Formulas NAC Sustain is now out of stock everywhere I have checked online in Canada.
ReplyDeleteThank you FDA!
LG
I wonder if it is "out of stock", "no longer stocked" or "no longer produced".
DeleteHi Peter
ReplyDeleteJust watching the new video you posted and it is very interesting .
Our WES results are out and I wasn’t sent anything except a letter to say that it was normal with no abnormal findings .
I had to call the geneticist and requested for the results and all the data but I was only sent a one page result still .
They claimed they only compare against previously established genes that are known to be responsible for ID or developmental disorders and the only thing the result said was
AMBRA1 c.1193G which is a variant of uncertain significance .
I just emailed them tonight to ask for all the raw data or what do you suggest that I do or is it not the raw data that I am meant to request for ?
I am happy to send you a copy of the one page report if you don’t mind so that you can advise me on what to request from them
Please do you know anyone who can go through the raw data for me and I am very happy to pay for this service as the NHS only compared against known genes and I feel I need a second opinion.
Many thanks for your help
Apinke
Apinke, it sounds like it was not "whole" exome sequencing, but rather just a selected number of what they see as risk genes.
DeleteThat gene AMBRA1 does look very relevant.
It is an autism gene, which the NHS geneticist would see, if he looked it up.
It produces something called regulated autophagy protein 1. It regulates autophagy and development of the nervous system. Involved in autophagy in controlling protein turnover during neuronal development, and in regulating normal cell survival and proliferation.
For most people this is a gene that may cause problems in old age (Parkinsons, Huntington, Alzheimer’s etc) but the research says that ambra1 regulates autophagy and development of the nervous system, so it can also be a problem at the beginning of life.
Autophagy is the like the body’s garbage collection service. It is very important that unneeded bits get cleared away, your protein is involved in this process and also a particular sub-type called mitophagy. Mitophagy is the process you have to get rid of defective mitochondria, these are what produce energy (ATP) inside your cells.
When you look up AMBRA1 and autism you find:
Ambra1 Shapes Hippocampal Inhibition/Excitation Balance: Role in Neurodevelopmental Disorders
https://link.springer.com/article/10.1007/s12035-018-0911-5
Together, these findings identify an Ambra1-dependent mechanism that drives inhibition/excitation imbalance in the hippocampus, contributing to abnormal brain activity reminiscent of neurodevelopmental disorders.
Notably, a behavioral study on heterozygous Ambra1 mice (Ambra1+/−) revealed an autism-like phenotype that was restricted only to females [23] and a recent work proved an association between autism and intronic single nucleotide polymorphisms of the AMBRA1 gene in human female patients [24].
Despite its implications in both schizophrenia and ASDs, the underlying neurophysiological mechanism linking Ambra1 loss to these pathologies is unknown. Here, we show that haploinsufficiency for the Ambra1 gene results in a reduced number of PV interneurons in the Ambra1+/− mouse hippocampus, resulting in alterations in inhibitory synaptic transmission, network oscillations, and synaptic plasticity.
Sexual dimorphism of AMBRA1-related autistic features in human and mouse
https://www.nature.com/articles/tp2017213
Ambra1 is linked to autophagy and neurodevelopment. Heterozygous Ambra1 deficiency induces autism-like behavior in a sexually dimorphic manner. Extraordinarily, autistic features are seen in female mice only, combined with stronger Ambra1 protein reduction in brain compared to males. However, significance of AMBRA1 for autistic phenotypes in humans and, apart from behavior, for other autism-typical features, namely early brain enlargement or increased seizure propensity, has remained unexplored. Here we show in two independent human samples that a single normal AMBRA1 genotype, the intronic SNP rs3802890-AA, is associated with autistic features in women, who also display lower AMBRA1 mRNA expression in peripheral blood mononuclear cells relative to female GG carriers. Located within a non-coding RNA, likely relevant for mRNA and protein interaction, rs3802890 (A versus G allele) may affect its stability through modification of folding, as predicted by in silico analysis.
I am not a geneticist, and I doubt there are many good geneticists anywhere. In the US lots of people go to a Dr Richard Boles. I have watched his presentations. Just google "Dr Richard Boles autism".
In the US, FDA-approved medical WES companies will generally not give you the raw data. They do sequence it all, but they only report to you any findings of concern. You can ask for the raw data, but in my experience, they will say no. If you want to get the raw data, you have to use a direct-to-consumer company such as Nebula. The privacy protections are much more limited. You may want to check where a particular company does the actual sequencing. Some places outsource to BGI in China, and it is safe to assume that the Chinese government keeps a copy of the data. You may or may not care about that.
DeleteIn the US, they will typically only share the one-page report comparing against known pathogenic variants and some might share VUS. However, you can call the lab that did the sequencing and ask them to release the raw data to you. This may require some persistence and escalations even though I believe they are legally obliged to share data with the patient, but for some reason take pleasure in stonewalling. Some might say they will release only to doctor and then you need to use a middle man. In the end, they would ask you to sign a release and perhaps pay a small fee if they are shipping this physically. While you are at it, ask them for both versions of raw data, the VCF format is smaller and typically downloadable and the BAM format they may send it to you. Once you have the VCF data, there are some services that you can use for re-analysis. For example, last year a start-up was offering free reanalysis for rare diseases day. There is also a program at CHOP that does this for research and will share results with you. There are also paid services and geneticists who can do this, so its best to just get the raw data from them immediately following the testing (they may only store in for a certain length of time) so you can open up these possibilities.
DeleteAnother option is using the lower cost sequencing services that are available now (few 100s of $) and pay out of pocket. I suggest doing whole genome sequencing if you plan to repeat in future.
Bear in mind you may find nothing more than what the current report says for now, so I would also not get your hopes up (as I did).
Thanks so much Peter for this comprehensive explanation .The NHS claims to do WES but seems what they did is just to compare with risk genes like you said and the paediatrician confirmed same when I spoke to her .
DeleteI will read more on the AMBRA gene and I have googled Dr Boles too and will be contacting him today to see if I can get a video or telephone appointment.
Do you think it is treatable if there is a genetic factor like this AMBRA 1 gene.
Thanks Sara for your response too.We are in the UK son will wait to see what they say when they get back to me.
Apinke, genetic testing can sometimes give you an answer with near certainty. Often testing gives you a list of "maybes".
DeleteAMBRA1 might be the cause of your child's autism, it might be a contributing factor, or it might be completely irrelevant. They should have also tested both parents to see if you also have this mutation, or it just appeared in your child.
If you have a target gene, like you have AMBRA1, you then look up what it does and see what might happen if there was a reduction in what this gene is supposed to do.
If AMBRA1 is not expressed correctly it might be possible to compensate for this shortfall. There are many therapies to promote autophagy.
If Dr Boles thinks that there is likely reduced autophagy, then you can look up ways to increase autophagy.
Since your child responds to Bumetanide, you now for sure that he is treatable.
Thanks Peter they tested both of us but did not give us any results.I will contact them tommorrow to find out if we have the mutation too.
DeleteThanks so much.I will look into this and hopefully hear back soon from Dr Boles too.
Hi, just out of curiosity, Prof. Antonio Persico is posting on a Forum about autism here in Italy and he wrote about his article regarding psicopharmacology of autism in actual clinical practice, Part I
ReplyDeletehttps://www.sciencedirect.com/science/article/pii/S0278584621000853?dgcid=author
Also, he said he is now working on Part II, where all studies listed in the site ClinicalTrials will be reviewed and he is going to offer an “algorithm” for drug choices…..We’ll wait and see…..
http://autismo33.it/pipermail/autismo-biologia/2021-May/004215.html
carla marta
Carla Marta, that is interesting. Hopefully he will come up with something that is usable.
DeleteOur functional medicine doctor ordered a set of labs and test for my son, and I am starting to get results back. Peter, I am wondering if you or any of your readers have thoughts about what these results might suggest to trial first with my son, age 5. He has just started bumetanide a few days ago, so we are not waiting to see how he responds.
ReplyDelete-high cholesterol
-low blood glucose
-low serum IgA and IgE, borderline low IgG
-high serum chloride
-low homocysteine in urine
On the OAT, results suggestive of yeast (but I also wonder if this is just because his diet is mostly fruit), and
-High DHPPA
-High β-OH-β-Methylglutaric Acid
-High malic acid
-high glyceric acid
She also had as order an Enterolab test, which returned anti-gliadin IgA slightly over the threshold, although I can't find any published information suggesting that this has clinical significance beyond being a sign that the diet contains gluten (it's thus useful for people with celiac to track whether they are getting trace gluten). If anyone has relevant information, I'd be happy to see it.
Thanks as always for any insight you have!
Sara, most people with autism have numerous "metabolic anomalies", which often do not tell you anything actionable.
DeleteThe really useful lab tests would be those that use spinal fluid, because this tells you about what is happening in the brain. Almost nobody get a spinal tap, because it is an invasive process.
Hopefully, your son will respond to Bumetanide.
It has been slightly less than a week, but it does seem that he is responding! He has been using much more complex language this week--several of his therapists commented on it, without know ing that he had started a new medication. He has also been less anxious, I think because it is easier for him to understand our explanations when we tell him that he can't have something immediately, but will be able to have it at a later moment. I will keep going with it for at least two more weeks and see if the effect sticks before changing anything else, but will probably try verapamil next to see if that also has an effect.
DeleteIt is hard to make sure that I am not giving in to placebo effect and noticing positive things because I know that he is on a new medication, but the therapist reports seem like a good control.
Hopefully the bumetanide effect will be evident to all. If you are not 100% sure, then make a pause and the effect will slowly fade away in the next 2-5 days.
Deletehola estimado Peter,
ReplyDeleteEsto iniciando con mi niño de 7 años, con Varapamilo 20mg, tres veces al dìa, NAC 600mg tres veces al dìa, atorvastatina 5mg dos veces al dìa.
Siento que tiene un poco de dolor de cabeza, està un poco màs hiperactivo de lo comùn.
Solo llevamos cuatro dìas con el tratamiento,
I think your dosage of Atorvastatin is too high. Try 5mg once a day, or even just half of one tablet. This very likely has caused the headache.
DeleteIt is always best to test therapies one by one, otherwise you cannot know which ones are helpful. I would first trial NAC, see if it helps and has no side effects, then you trial the next therapy.
I had posted a while back about N-Acetyl-Glucosamine before on this blog in regards to its potential in restoring weakling myelinated axons in people with autism. Well here is some new research showing that naturally occurring levels of NAGl in the blood decrease substantially in people with MS:
ReplyDeletePress Release:
https://www.sciencedaily.com/releases/2021/05/210512115550.htm
Paper:
https://jamanetwork.com/journals/jamaneurology/fullarticle/2779917%C2%A0
NAGl is pretty easy to mix into other foods and beverages at is a sugar. You can buy it in pill form of powder form from various supplement retailers. We use BulkSupplements NAGl, but it is not super-expensive no matter which retailer you go for.
Tyler, there are so many emerging interventions for MS; but people do not use them.
DeleteN-acetylglucosamine has also been suggested for epilepsy.
Do you see a specific visible benefit from NAG? or are you using it more for long term potential benefits.
One of the studied autism genes is SLC35A3, mutations cause autism spectrum disorder and epilepsy.
This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane.
It looks like N-acetylglucosamine might be a good anti-dementia therapy as well.
https://www.mpg.de/8009079/roundworm-alzheimers
Long term as remyelination does not just happen overnight. The same with Clemestine
DeletePeter, do you think this has any real life implications for supplementation? Or is it a metabolic problem where just supplementing wont help? https://www.frontiersin.org/articles/10.3389/fnins.2021.645267/full?&utm_source=Email_to_authors_&utm_medium=Email&utm_content=T1_11.5e1_author&utm_campaign=Email_publication&field&journalName=Frontiers_in_Neuroscience&id=645267&fbclid=IwAR1ZnEfbJeLamNd8GFsKounDwGE3BQRl-fjNaAiKnsflcx8Y08NoYQ8qWDw
ReplyDeleteTatjana, it is an interesting paper that shows that many people with PANS share metabolic dysfunctions common in autism. This may be why PANS is common in people with autism.
DeleteOxidative stress is present in both conditions, and is treatable.
Histidine metabolism, phenylalanine, tyrosine and tryptophan metabolism, glutathione metabolism, glycine, serine and threonine metabolism, alanine, aspartate and glutamate metabolism, glutamine, and glutamate metabolism are all mentioned.
Some of the above might respond to treatment, but many will just be a downstream effect.
I did find histidine supplementation had an anti-allergy effect. Some people do find amino acid supplementation helpful in autism and other conditions.
ReplyDeleteHello friends, I am very glad I found this blog
My son is totally incoherent, except he follows some simple commands.
Goes from nonsensical laughter to nonsensical crying, does not speak, does not pay attention, makes many nonsensical sounds, tantrums, self-harm, such as hand biting
I would like to know if any parent has the same case and what direction did he take regarding treatment
I need help
Melisa
Hello Peter, Friends, and Community,
ReplyDeleteIt feels like forever since I've posted. A new very busy job + remote schooling of my daughter (which feels like a full-time job in and of itself) have kept me from doing much of anything else, but I did want to post an interesting find I made today.
Check out the following paper, which at first may not seem relevant, but may in fact be really interesting:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907527/
The very relevant part I found has to do with the fact that Betaine (otherwise known as Trimethylglycine or TMG) appears to be an NKCC1 inhibitor, and that its impact on GABAergic transmission (like Bumetanide) may be relevant to ASD.
Peter - I don't recall if you (or anyone on the board) had ever identified Betaine as an interesting molecule for NKCC1 inhibition, but I don't remember ever having considered it for that purpose. Do you (or anyone else on the board) have any thoughts on this? It may be an interesting alternative to Bumetanide for those who can't access it.
AJ (in Sunny and warm Canada)
AJ, very interesting.
DeleteConsuming betaine will increase methionine, which in your paper it suggests can have negative consequences.
In the case study they ended up giving 10 g of betaine to adults and methionine levels did not shoot up.
Betaine can be bought cheaply in powder form.
The following old paper suggests that under certain conditions both betaine and taurine can reduce the amount of NKCC1 mRNA and so reduce the number of transporters.
Expression and regulation of the Naþ=Kþ=2Cl cotransporter NKCC1 in rat liver and human HuH-7 hepatoma cells
https://europepmc.org/article/med/12054469
Long-term hyperosmotic treatment of HuH-7 cells by elevation of extracellular NaCl or raffinose concentration but not hyperosmotic urea or mannitol profoundly induced NKCC1 mRNA and protein expression. This was antagonized by the compatible organic osmolytes betaine or taurine.
Taurine and betaine are compatible organic osmolytes, which do not disturb protein function even at high concentrations and are involved in the long-term adaption to hyperosmolarity [41]. These osmolytes accumulate in liver cells due to cumulative uptake by specific transport systems [42]. When HuH-7 cells were allowed to accumulate taurine or betaine for a period of 12 h before switching to 405 mosmol/L with NaCl-enriched medium, the hyperosmotic increase in NKCC1 mRNA expression was suppressed and did not significantly differ from the control situation (305 mosmol/L in presence or absence of betaine or taurine, respectively; Fig. 6A). Under normoosmotic conditions betaine or taurine were ineffective to modulate NKCC1 mRNA expression. As shown in Fig. 6B the regulation of the NKCC1 by hyperosmolarity was roughly mirrored at the protein level. Taurine largely abolished hyperosmotic NKCC1 protein accumulation, whereas a delayed induction of NKCC1 expression occurred in presence of betaine. This may be due to the protein stabilizing property of this osmolyte on the one hand [43,44] and on the smaller intracellular accumulation of betaine compared to taurine in hepatocytes on the other hand [45]. The data suggest an involvement of the NKCC1 in long-term regulation of cell volume and intracellular osmolyte balance.
Both betaine and taurine are already widely used as supplements for autism. Apparently betaine causes hyperactivity in some children.
AJ, it turns out taurine also inhibits KCC2, so it would be bad choice.
DeleteTaurine Inhibits K+-Cl− Cotransporter KCC2 to Regulate Embryonic Cl− Homeostasis via With-no-lysine (WNK) Protein Kinase Signaling Pathway
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3375508/
Hi Peter,
ReplyDeleteHope all is well and thanks so much for your response!
I am definitely considering Betaine, with my one hesitation being the potential for hyperactivity. If / when I start, I would start with a low dose and titrate up slowly, looking for the optimal dose where there is some benefit without any offsetting issues (e.g. hyperactivity).
Have a wonderful day Peter!
AJ
This is very interesting peter any educated guess what a good starting dose for 8 year old or child would be based on the case studies. I know I would love to try bumetanide but have no way of getting it. This looks like a promising potential therapy
ReplyDeleteIn the literature it says that up to 15 g a day of betaine is known to be safe in adults. So you might infer that up to 5 g would be equally harmless in an 8 year old.
DeleteBetaine is also known as TMG. Both TMG and the related DMG have long been DAN doctor autism supplements, but at much lower doses.
In the case studies they increased to dose in an adult to 10g a day.
As AJ has suggested, start at a low dose and gradually increase it.
If it does reduce NKCC1 mRNA, as suggested in the research, over the following weeks chloride levels in neurons should fall. The result would be similar to bumetanide, but without the diuresis.
You can buy betaine HCL as a bulk powder.
Hi Peter, I finally got around to watching this video. Thank you for sharing it. Unless I missed it, you did not mention DMF, which you had said in a previous video you had substituted for sulforaphane. Have you discontinued that? I had been thinking about trying it, so would be interested to know how it worked out for you.
ReplyDeleteAs a side note, the DMF that is available by prescription in the US takes the form of microtablets with an enteric coating. So it should be possible to open the capsule and separate out a few micro tablets to give a low dose of DMF, without harming the enteric coating. This is useful information to me, since my son cannot yet swallow pills.
The prescription is very expensive, but with a GoodRx coupon, it would be possible to buy 14 capsules of 120mg each for about $150. That would be more than a year's supply for my son, so it actually works out reasonably in the end.
Sara, DMF needs to be in an enteric capsule to avoid quite severe GI side effects. I tried it on myself without the enteric coating and it is not something I would ever repeat.
DeleteI split a hard 30 mg DMF tablet into 6 and repackage in 6 enteric capsules, for my final 5mg product.
There seem to be numerous drugs/supplements that have a positive effect on autism and you cannot take them all.
I started to think of them as "Game changers" and "Fine-tuners".
DMF is a fine tuner, as is Sulforaphane.
When my son younger, Sulforaphane did make him very happy and he did verbalize more, it stimulated words rather then speech.
DMF makes my son hyper-aware. So the effect is very different to sulforaphane. If you are looking for awareness and alertness, DMF is good.
Pentoxifylline, once a day, has a nice effect on mood.
At the moment, the only person taking DMF in our house is me. 5mg once a week is beneficial for nerve damage.
I have added low dose Roflumilast, because cognition is a priority due to school. Monty has to keep up academically with the typical teenagers.
Thank you for these updates! In the version of DMF sold here, the enteric coating is applied to the individual beads contained within the capsule, not to the capsule itself. Hence my thinking that it would be possible to separate them out. I did this successfully with a similar formulation of omeprazole when my daughter was very young. However, I would certainly test it on myself before giving it to my child! I am also working on getting him to swallow pills, we shall see how that goes.
DeleteGeneric roflumilast has been approved by the FDA, but is apparently not actually on the market in the US yet. I hope that it will actually be available soon, as the brand-name (Daliresp) is prohibitively expensive.
Sara - are you talking about the brand Tecfidera or something else? They mention that the capsule is a hard gelatin coated delayed release one, so not sure if that is also required to keep it from not releasing in the stomach.
DeleteYes, Tcfidera. The information on the micro tablets is here: https://www.biogen.ca/content/dam/corporate/en_CA/pdfs/products/TECFIDERA/TECFIDERA_PM_EN_28Nov2019.pdf. It's true that it's not entirely clear how well the enteric coating on the tablets alone would work without the capsule; but in any case I would try it on myself first. If it causes GI distress without the capsule, we would just have to wait until my son can successfully swallow pills.
DeleteDear Peter, thank you for the blog and videos.
ReplyDeleteI'm a newbie follower.
I wanted to ask if someone had a similar situation and how to go about it: I had to request raw data from my son's genetic tests. NHS (after quite long battle) sent me a one page report with a short list of genes, mentioning there are more (with exact numbers of how many more). Is there a way to make them send me the whole list of genes?
I was also shocked when I started reading about genes one by one, as I found them very disturbing, although the original one line report says: no significant abnormalities.
Can someone recommend a good genetic doctor to analyse the data in the UK or in Russia?
My son has low-functioning ASD, ADHD and other co-morbidities. He is 8 and is sadly regressing. The main issues ATM are aggression and selfharming ��
I also wanted to ask Peter if there is a list of treatable genes related to autism?
I desperately want to help my son and I would be grateful to get some guidance from other parents.
P.S.: not sure if it's a good idea to list genes here but any comments, links or suggestions are welcomed!
ACE2
CDKL5 (Autism and epilepsy)
PIGA
GPM6B
KAL1
TLR8, TLR7
STS
TMSB4X
WAS
POU3F4
XK
CLCN5
FOXO4 FOXP3
OPHN1
PAK3
SLC6A14 SLC6A8
ATP1B4
BTK
ABCD1
CD4OLG
RBMX
L1CAM
IRAK1
DKC1
ReplyDeleteMasha, there no definitive list of autism genes, let alone a list of treatable ones. A very good resource is treatableID.org these are all known disorders that are treatable.
All of us carry 20-30 genetic mutations and live just fine. Ideally you compare your child's genetic mutations with those of both parents to see if there are any new ones. Then you narrow down the problematic ones.
You have a long list with multiple possible targets. CDKL5 is well studied and if you knew the specific mutation you might know if it is the big issue.
You are more likely to find a free thinking geneticist in Russia than the UK. Once you know the gene(s) you look at what they do and how you can compensate for the likely lack of expression of that gene. For CDKL5 there is a gene therapy in development.