tag:blogger.com,1999:blog-655962722302095847.post2847466689131241810..comments2024-03-28T22:33:35.806+01:00Comments on Epiphany: It’s not Autism, it’s Sotos Syndrome – and more about GABA therapiesPeter Lloyd-Thomashttp://www.blogger.com/profile/10173383229834614994noreply@blogger.comBlogger39125tag:blogger.com,1999:blog-655962722302095847.post-55822656576749617972016-05-15T08:59:36.050+02:002016-05-15T08:59:36.050+02:00Hello John Doe,
among all the treatments to which...Hello John Doe, <br />among all the treatments to which I subjected my son, I would advise the cranial sacral massage. Unfortunately mine are empirical observations, but I think it's worth groped; my theory is that by improving the circulation of the cerebrospinal fluid, it will help to purify the spurious produced by the defective TCF4. Please let me know if you need other info.<br /><br />Regards,<br />Danilo.Anonymoushttps://www.blogger.com/profile/12839581310159633024noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-92069629390109750192016-05-05T23:52:49.726+02:002016-05-05T23:52:49.726+02:00Hi Peter,
Hi John Doe.
I just found these article...Hi Peter,<br />Hi John Doe.<br /><br />I just found these articles that seem a very good news!<br />Please let me know what do you think about.<br /><br />https://pitthopkins.org/2016/03/10/maher-lab-identifies-potential-drug-targets-for-pitt-hopkins/<br /><br />http://www.libd.org/research-activities/our-news/2016/study-identifies-potential-treatment-for-autism-spectrum-disorder<br /><br />Meanwhile I'm giving Broccoli sprounts fresh+powder and sodium butyrate to my son.. I'll post my first impression next 2-3 weeks of treatments...<br /><br />Regards,<br />Danilo.Anonymoushttps://www.blogger.com/profile/12839581310159633024noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-54648766070763393592016-04-07T08:15:47.341+02:002016-04-07T08:15:47.341+02:00Hi Danilo, minovycline has been trialled in Fragil...Hi Danilo, minovycline has been trialled in Fragile X and Angelmans... b/c PTHS is so rare, I look to other similar disorders to see what is helping. There is currently a trial of Minocycline going on in Spain for Angelmans... or perhaps it just ended. It is no magic pill, but I have taken my son off of it a few times and each time that faraway empty look in his eyes comes back... as if he is not in there...after 3-4 days without. We dose at 5 mg/ kg. he is 14 Kg so he takes 1.5 50 mg pills a day. Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-87884544515778117902016-04-06T21:55:39.142+02:002016-04-06T21:55:39.142+02:00Anonymous with 5yo son PTHS = Mr. John Doe.
Hi Joh...Anonymous with 5yo son PTHS = Mr. John Doe.<br />Hi John, what about minocyCline? How do you use it on you son? Please explain as much as possible, thanks!Anonymoushttps://www.blogger.com/profile/12839581310159633024noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-77016087693894520852016-04-05T01:24:05.923+02:002016-04-05T01:24:05.923+02:00We fill 00 cap size, equivalent of about 1/3 of a ...We fill 00 cap size, equivalent of about 1/3 of a teaspoon, which we found was the best dosage for our son (once a day for 2-4 days in a row, followed by 2-3 day break). Sorry not sure how much that would be in weight, but you might find your child does better with more or less than that anyway. Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-27769284964823317332016-04-04T17:55:49.574+02:002016-04-04T17:55:49.574+02:00thanks! How much broccoli powder do you put in eac...thanks! How much broccoli powder do you put in each cap? What size cap do you use? Unknownhttps://www.blogger.com/profile/07290276102260430780noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-15091098717264135482016-04-04T15:55:51.187+02:002016-04-04T15:55:51.187+02:00Hi anonymous, you can always buy empty caps online...Hi anonymous, you can always buy empty caps online (very cheap!!) and fill them with broccoli sprout powder yourself. That is what we do, it saves loads $$££$$Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-89621109925249064462016-04-04T05:20:39.522+02:002016-04-04T05:20:39.522+02:00Hi there… I had posted last week, but for some rea...Hi there… I had posted last week, but for some reason my post did not come through. I have a five year old son with Pitt Hopkins. He currently takes Minocyline which has helped with focus and attention and cognition, I believe, though difficult to measure since he has been on it since he was about 2 years old -- and since he is non verbal it is difficult to measure such things. Around his 4th birthday… he became increasginly more agitated, much more flailing and flapping and was having a very difficult time going to sleep. Some call this "wired but tired" … we started him on amantadine, an NMDA receptor antagonist as well as a subtle dopamine agonist and saw calm as well as some motor improvement within 3 days. We have tried the Bumentanide… it most definitely had an effect… he was screaming and hyper…. and I used a very very tiny dose. He urinated so much and developed dark circles under his eyes… that it scared me a little… so we took him off. It was clearly having an effect… but not exactly a desired effect. Per peters advice, I very much want to try clonazepam, but have had a hard time getting it. So next we tried the broccoli sprout powder… this also had an effect in increasing vocalizations.. that very day… perhaps 40 minutes or so after he took it… however the taste is strong and getting it down my son was a challenge… so I have ordered the powder in capsule form and am waiting for them to arrive from australia. Just today we started the sytrinol. Very vocal. again, noticeable within 40 minutes or so… he also seemed to have a bit better motor control… very subtle though… so I will continue with that and let you know how it goes. Lastly, my son is on the severe end of the spectrum with regards to stomach issues… every day since he was 2 weeks old we live to make sure he poops regularly. He is on 3 different probiotics, as well as the Miraysian that peter recommended-- I drop 3 of the little tablets in his juice and they dissolve easily! and are virtually tasteless! He also takes Betaine HCl, to increase his stomach acid and senna, a natural laxative to help keep things moving. Stay away from Miralax if you can… I believe in Europe you call it Movicol? It depletes magnesium and, I believe, can play a role in reducing seizure threshold… though Peter would know more about that then me. Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-52431462352862635422016-03-25T15:54:18.818+01:002016-03-25T15:54:18.818+01:00Danilo, the plan looks good. I think the actual ef...Danilo, the plan looks good. I think the actual effect of NaB is from the butyric acid it produces, so I would just take 500mg in one go. <br /><br /><br />Here is an interesting paper for you:-<br /><br />Butyrate, neuroepigenetics and the gut microbiome: Can a high fiber diet improve brain health?<br />http://www.sciencedirect.com/science/article/pii/S0304394016300775<br /><br />To make more butyric acid you can eat sodium butyrate, but you can also increase its production in the colon by eating more fiber and/or adding a bacteria/probiotic that produces butyric acid by fermentation.Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-64633305438046309062016-03-25T15:10:50.235+01:002016-03-25T15:10:50.235+01:00Hi Peter,
I studied a lot these days and I decide...Hi Peter,<br /><br />I studied a lot these days and I decided I'm starting this trial with my Son:<br /><br />1)Sulforaphane >> I'm preparing fresh broccoli sprouts by hydroponics and combine 20 gr of these with a little bit of Super sprouts powder, because I found an interestin clinical trial that demostrated the high absorbition of Sulforaphane by the combination of fresh and powder broccoli.<br />I'm planning to give It to my son once a day, during the dinner.<br /><br />2) Butyrade>> I think 500mg per day of sodium butyrate could be sufficient, Btw I found that It half-life is very short (around 5 minuti) so I think to mix the butyrade with 500ml of water ( it is soluble) and give it to drink during all the day.<br /><br />The first cycle will be for 2 weeks of treatment with one week of stop. <br />Depending from the observed result I will increase to 3-4 week with one of stop or decrease to 1 week plus 1 of stop.<br /><br />Peter, do you have any comment or suggestion regard my idea?<br /><br />Meanwhile I'm continuing with Q10 and omega 3 AL-ALA-DHA that I used from more than one year.<br /><br />Ps: I invite again the father with PTHS son that wrote on 20 october 2015 to share his experience with others, thank you!Anonymoushttps://www.blogger.com/profile/12839581310159633024noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-54710626979695122562016-03-21T13:10:15.980+01:002016-03-21T13:10:15.980+01:00Danilo, HDAC inhibitors are being trialed in the r...Danilo, HDAC inhibitors are being trialed in the research model but not yet in humans with PHS.<br /><br />There are safe HDAC inhibitors and it seems strange not to test the ones known to be very safe.<br /><br />Sulforaphane from broccoli has been trialed in autism by Johns Hopkins. You can buy broccoli powder, I use Super Sprouts brand from Australia, just 2.5ml of powder per day.<br /><br />Butyrate (500mg) is used by one reader who finds it has an impact in her son, but he does not have PHS. Butyrate may also help any GI problems that are present. It is sold as a supplement but many clinical trials are using it.<br /><br />Valproate is very widely used in autism, but I have no data on its use in PHS. It is sold in a liquid form or children and available very widely.<br /><br />Valproate is well understood by many doctors and so quite a good one to trial. Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-61694685002850261452016-03-21T11:35:08.864+01:002016-03-21T11:35:08.864+01:00Dear Peter,
Thank you very much for the prompt re...Dear Peter,<br /><br />Thank you very much for the prompt reply! I'll contact my doctor ASAP! <br /><br />Do you know if others with PHS tested these drugs?<br /><br />I want going to the doctors, that actually doesn't know anything regarding these protocols, with the much info possible...<br /><br />Thanks again.<br />Danilo.Anonymoushttps://www.blogger.com/profile/12839581310159633024noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-69591125481584143712016-03-21T10:42:00.682+01:002016-03-21T10:42:00.682+01:00Danilo, both Bumetanide and very low lose Clonazep...Danilo, both Bumetanide and very low lose Clonazepam are safe drugs. Several doctor readers are treating their children with these drugs. Bumetanide will cause diuresis and so you have to add back the lost potassium. So I add 250mg of potassium for 1 mg of bumetanide. You should test potassium levels in his blood. Some people seem to have no drop in potassium.<br /><br />The dose of clonazepam is so small the biggest problem is how to give such a small dose. In people who respond to this therapy you have the chance that at slightly above the cognitive enhancing dose you get anxiety. Most people are using about 0.025 mg a day. Since your son is very small I would try even lower perhaps 0.02mg, if you go too low it will do nothing.<br /><br />With bumetanide you need to try it for a month to know for sure if it helps. With Clonazepam, if he dose is right, you should see an effect after 3 days (it has a long half-life).<br /><br />In the PHS research they are looking at HDAC inhibitors in increase the expression of the TCF4 gene, this is epigenetic therapy. There are several well established HDAC inhibitors:-<br /><br />Sodium Butyrate (makes butyric acid in the intestines)<br />Sulforaphane (from broccoli sprouts)<br />Valproate (used for childhood epilepsy) <br /><br />In your position, I would ask my doctor to let me trial valproate syrup. It is given to many kids with autism, even without epilepsy. It might well change TCF4 expression. Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-22135687531583842792016-03-21T01:42:58.234+01:002016-03-21T01:42:58.234+01:00This comment has been removed by the author.Anonymoushttps://www.blogger.com/profile/12839581310159633024noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-19402094299225161732015-12-06T22:36:07.482+01:002015-12-06T22:36:07.482+01:00Thanks a lot, Peter! I will stop the GHRH immediat...Thanks a lot, Peter! I will stop the GHRH immediately. <br />Pantogam has an instant effect on him, so I hope that Bumetanide will help as well. I ordered two more packs from Mexico, they are called miccil there, like you said. Hopefully it will arrive soon.<br /><br />Thank you,<br /><br />PollyPollyhttps://www.blogger.com/profile/17169489289012330736noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-60547804568485390912015-12-05T20:55:12.184+01:002015-12-05T20:55:12.184+01:00It is pretty clear he has/had hyper active pro-gro...It is pretty clear he has/had hyper active pro-growth signaling. He fits the "textbook" case of classic autism.<br /><br />I think GHRH injections are the opposite of what is needed. I would not use them. In the recent post the researcher suggested Gleevac, which reduces GH levels, but this is rather experimental. It may be late now.Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-53533130411554874102015-12-05T20:43:32.127+01:002015-12-05T20:43:32.127+01:00Thanks! Allergies seem to be under control now. I ...Thanks! Allergies seem to be under control now. I stopped the Periactin and his night time jerking had stopped, thanks God! I am so scared of him getting seizures. He does not have them now, once they start its a totally different game plan. I hope none of the new meds will trigger them, even though it seems like all of those meds have siuzures as a possible side effect. But I will still keep trying them, one at a time. It's better to take a risk and try a new thing, as much as I am against any drugs, that to watch your kid be non-verbal for the rest of his life. I know there are other problems besides speech with our kids, but it seems like without speech it's impossible to teach him anything, he still is not potty-trained, does not eat on his own, he is still acting like a baby and I do everything for him. Usually people teach these things when kids start talking, but our kid never started talking and we are still dealing with all those toddler age problems. I am not pushing him, because his mental health and happiness is more important that potty training and drinking from a cup. But at some point I want him to be a little more independent, and speech would help with that.<br />He was growing fast until 2 yo. He was a 100 percentile in hights at the age of 18 months. But he never cared for food, never wanted to nurse as a baby, I had to pump and feed him from the bottle while he was sleeping, he never wanted food and would not eat while awake. Still not interested in food. Which is another reason ABA would not work for him, I can not use snack as a positive reinforcement. He is average hights now, but because of the lack of appetite he is underweight. Periactin was perfect for him, because it is supposed to increase the appetite and also would normalize his sleep. But because of its antihistamine properties, it is dangerous for us to use it right now, as it might trigger seizures. I want to start him on Bumetanide and clonazepam first. <br />I am also giving him GHRH injections. Is it a good idea for a kid with a hyper active pro-growth signaling? I am also doing RAS injections that r supposed to balance the hormones. I did not see anything on those, except for better coordination and other physical attributes. He also has this "marble pattern" spots on his skin, all over his body and they seem to go away on these shots. I think they are related to growth hormones and he had those spots all his life. Not sure what they mean. No doctors could ever explain those spots to me.<br /><br />Thanks again for your answers! I hope my experience will help someone as well.<br /><br />PS I tried to do APGAR once, recently, and he was around a 100. But perhaps I answered incorrectly, as the questions are pretty subjective. Like whether you have a problem with potty training. I answered no, because it's not a problem for me to change him and I never even tried to train him, but now I think they meant if he is trainable or not, I did not try, but I think it would not be easy, because he is non-verbal. I do not want to add stress to him, because stress is one of the factors that increase autustic symptoms and I am trying to avoid it at all cost. <br /><br />PPS sorry, I meant not the APGAR score, but the autistic test score was a 100. His APGAR score was perfect, 9 out of 10, both one minute and 5 minutes after the birth. He was born perfectly healthy, easy 7 hour labor. The only problem he never wanted to eat. And still does not.Pollyhttps://www.blogger.com/profile/17169489289012330736noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-11147755942437062162015-12-05T12:23:02.375+01:002015-12-05T12:23:02.375+01:00Polly, one way to narrow things down is at the end...Polly, one way to narrow things down is at the end of the following post:-<br /><br />http://epiphanyasd.blogspot.rs/2015/10/biomarkers-in-autism.html<br /><br />Just look up you son's weight/height and other measurement you have (head circumference) at birth and in the first couple of years; then compare to the standard growth charts. Also the APGAR score. If he was big and strong that may suggest that hyper active pro-growth signalling, if he was small and floppy that might suggest hypoactive as being more likely.<br /><br />The approach of that paper is a simplification, you could be hypo on thing and be hyper the other. But it is much better than no approach.<br /><br />He is very young and I would be careful not to give him too many things. Oxytocin nasal spray is worth a try.<br /><br />For allergies you just need to find what is effective. I would see an allergist/immunologist, not a DAN doctor. You might find a mast stabilizer like Cromolyn Sodium is suggested. Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-25971582412691376182015-12-05T01:26:04.770+01:002015-12-05T01:26:04.770+01:00Peter, I think I have a pretty good idea what was ...Peter, I think I have a pretty good idea what was the trigger of my son's autism. I am trying to figure out which meds would address his subtype of autism the best, but I am having hard times understanding all the medical terms and conditions. Maybe you could help me to identify if he is hyper/hypo and what can be done to address it.<br />I appreciate your help a lot. It's hard to concentrate with an active and rambunctious boy running around and trying to climb me every 5 seconds ;)<br /><br />When I was 7-8 month pregnant I had a flu shot that apparently I had a bad immune reaction to. I had developed pain in my wrists shortly before his birth (arthritis) and I was struggling with it all his first year. Steroids did not help, but I changed my diet and it seemed to keep the symptoms away. But after taking PEA just recently, I realized I still have a problem, because I could feel some warm sensation in my wrists and in other joints, it helped to take the inflammation away. <br />I think that was the culprit of my son's problem. He had developed similar to mine autoimmune response to my flu vaccine and this inflammation messed up his developing brain even before he was born. The rest of 24 childhood vaccines "finished him off". <br />He was born almost two weeks late, I was induced with oxytocin, but not the c section. Do you think oxytocin would be a good drug to try on him?<br />What else would be beneficial in this type of autism (autoimmune disorder)?<br /><br />Thanks a lot for your time and for this blog. I wish I had more time and opportunity that read it all, but I am the only person taking care of my son 24-7, and it's hard to focus when he is bothering me all day long. I feel overwhelmed with the volume of the information and it's hard to choose the correct strategy at this point.<br /><br />Thank you for your help,<br /><br />PollyPollyhttps://www.blogger.com/profile/17169489289012330736noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-86839034756443925392015-10-22T19:15:32.767+02:002015-10-22T19:15:32.767+02:00There are clear sub-groups in autism trials, so ce...There are clear sub-groups in autism trials, so certainly people respond to certain therapies. Some sub-groups are genetically defined, but others may linked by events or the environment. So if you can define your sub-group, you can look at works in other people in the same sub-group. So someone with Fragile X would likely respond to watever helped someone else with Fragile X and not what helped the person with Rett Syndrome.Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-18953886404912977272015-10-22T18:14:27.190+02:002015-10-22T18:14:27.190+02:00would be incredible that these 4.4 subtype will re...would be incredible that these 4.4 subtype will respond to the same treatment, but the question is if this treatment should be different from the other types of autism. ValentinaAnonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-63629135738052162762015-10-22T17:51:23.432+02:002015-10-22T17:51:23.432+02:003 times a day would be fine. 3 times a day would be fine. Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-89237666952011179852015-10-22T17:17:05.606+02:002015-10-22T17:17:05.606+02:00It might be possible that there is a specific sub-...It might be possible that there is a specific sub-type of autism caused by gestational diabetes and type 2 diabetes.<br /><br />In California 1.3 percent of pregnant women have type 2 diabetes, and 7.4 percent have gestational diabetes, so 8.7% in total. But seems that only onset before 26 weeks of gestational diabetes increases risk of autism. This group is about 1.6%. So about 3% of pregnancies are linked to the circa 50% higher incidence of autism linked to T2/GD. So in all, about 4.4% of ASD in California is linked to maternal diabetes (T2 or GD).<br /><br />That is quite a big sub-type that could/should be considered separately.<br /><br />Perhaps these 4.4% will respond to the same treatments?<br /><br /><br />http://jama.jamanetwork.com/article.aspx?articleid=2247143<br />http://www.sciencedaily.com/releases/2012/04/120409103942.htmPeter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-33679975055962880432015-10-22T16:59:08.624+02:002015-10-22T16:59:08.624+02:003 times daily would be fine to start with nac or i...3 times daily would be fine to start with nac or is too much?Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-655962722302095847.post-75769161290170547852015-10-22T15:24:42.504+02:002015-10-22T15:24:42.504+02:00I would just use NAC, without B12 to start with. ...I would just use NAC, without B12 to start with. He should have enough B12 in his system.Peter Lloyd-Thomashttps://www.blogger.com/profile/10173383229834614994noreply@blogger.com