Peter Coleman is an independent researcher and full-time carer with a background in sound, TV, film and special effects. Both Peter’s wife and son suffer from a set of extremely complex symptoms that have progressed since puberty. After years of specialist appointments and still no answers, Peter has decided to find answers himself by analysing whole-genome sequencing data and isolating variants by hand.
Please note the transcript has been edited for brevity and clarity.
FLG: Hello everyone and welcome to the latest Patient Perspectives interview. Today, we are going to be joined by independent researcher and full-time carer Peter Coleman. So, before we get into it, Peter, if you could just introduce yourself and tell everyone a little about your background as well.
Peter: Hi, my name is Peter Coleman. I’m Australian. Both my parents are British. They immigrated after World War II. I’m currently living in Canberra, and I am a full-time carer for my wife and son. My wife will be turning 70 next year and my son will be turning 36 next year. My wife and I have been married for almost 38 years.
I come from a middle-class family. I went through high school and got a Commonwealth scholarship to go to university. Unfortunately, that didn’t work out, and so I did four years public service and then went into the television and film industry. I also ran a home recording studio, became a director and got into the very first 3D technology when it came out in the early mid-80s. I had to learn a certain degree of coding, everything was done in Fortran. I started one of the first 3D companies in Canberra. Then, I eventually moved to Sydney where I worked with a place called Garner McLennan Design, which was one of the top two production houses in Sydney. I ran and produced and did the 3D department there.
After quite a few years, I then eventually moved to Malaysia in the late 90s. I helped to build the industry in Malaysia. I eventually worked as the company director and also operations director. I ran the whole department there. Overall, we won about 45 international awards, including Clio Awards for special effects, and I basically helped develop the industry.
So, my background is technical. It is overall science based. But I do tend to think differently to most people, as I’ve been told. I have a very lateral way of thinking. I tend to keep a lot of things in my head and as new knowledge comes in, I adjust that knowledge. So, part of this whole journey has been how to relate multiple symptoms to multiple causes, and to be able to somehow link them up and find some sort of a commonality between them in such a way that we can actually look at potential diagnoses and cures or at least treatments.
FLG: You mentioned your wife and your son. They both have extremely complex conditions; would you be able to just give us a little more detail about what their symptoms are, when they first arose and how they have progressed as well.
Peter: I’ll start with my wife (Natalie). Ultimately, a lot of these things are in common. From puberty, she started having some physical problems in terms of loss of energy, extreme exercise. It made things worse and gave her a lot of pain. She also had a lot of psychiatric problems. She was sectioned at one stage for a while. She had difficulty completing tasks, partly because of fatigue, whenever she’d get stressed, she’d also get extremely fatigued. And at the same time, she was diagnosed with chronic depression, anxiety, etc. She went through a number of treatments, the majority of them didn’t really work. They stabilised her somewhat. And then, when she was pregnant with Sam, she actually felt the best she’d ever felt in her life, even until now. This was unusual because when it came to delivery, after an 18-hour labour with very little dilation, she had to have an emergency caesarean. She needed three days intravenous for extreme urticaria and extreme fatigue and also postpartum depression. And at the same time, then the early signs of the tachycardia that she had came on fully. So, what happened then over the very first year of the birth, roughly once a month, we had to take her to hospital with a heartbeat of 240. It would just suddenly switch from 100 or something up to 240. And it would stay there. It freaked everyone out. Initially, the standard treatment at that stage, which was isoptin, would only work for a little while. After that, each one got progressively worse, until finally it took roughly six hours to be able to stabilise her and that was done through experimental drugs. They couldn’t actually stop it. Eventually through a number of specialists we got her onto beta blockers. And through trial and error, found one that worked. And she remains on that today.
My son is common in the sense that he has slowly had similar heart problems in terms of racing heart, sometimes irregular heartbeats, etc. He is also now on beta blockers as well. So that’s an underlying problem but it is under control. However, it could tie into some of the potential causes. They’ve never actually worked out what causes it. It does appear to be whenever they get very high adrenaline rushes, which is common to both of them. The heart switches into a double beat to kick start it again, and it just doesn’t switch off. That has remained consistent throughout.
What happened then was the fatigue and the psychiatric problems and other things, particularly the inflammation, slowly progressed from there, and also extreme pain. Her muscles were incredibly hard, they were very difficult to relax. It got to the point where at certain times, when she was very highly stressed, she would just literally drop to the floor. The fatigue was so bad that she could at most open her eyes and move a finger to be able to indicate what was going on. For a very long period of time, including the 20 years we were in Malaysia, we had a number of issues where any very stressful situation would give her such fatigue that she would be solid and immobile or hospitalised for three or four weeks. Interestingly, the last time it happened was when we were trying some different medications. She had a tachycardia attack and she tried to thump her chest to try and fix it, but it turned into atrial fibrillation. She spent four days in ICU which didn’t resolve it. They couldn’t actually stop the atrial fibrillation. In the end, she said, ‘Give me a sedative’ and to the wonder of everyone including the heart specialist, Xanax stopped it. That led the heart specialist at that time to turn around and say, ‘Look, we’ll send you off. There are definitely other things wrong’.
She was also tested for multiple sclerosis, and a whole heap of other neurological issues. No one could work out anything that was going on. She was progressively getting sicker. In her early 50s, she started getting oedema and at one stage when she was trying to walk up the stairs, she just collapsed. Currently, that oedema is so bad that the legs and feet are mainly affected. No one can work out what’s causing it. It’s not standard fluid and it doesn’t respond to diuretics. It’s so bad that she hasn’t been able to wear shoes for 15 years. They literally have got absolutely no idea still what is causing it.
She still has the same problems with the muscles in terms of them never relaxing and also never not being in pain. She’s been on codeine, opioids – almost every type of drug. With certain diagnoses, when we’ve tried those particular pain medications, they don’t work. So, it’s very, very specific to what sort of medication she needs. The things that you would naturally think of as being useful for these sorts of situations, they can either make it worse, or at best don’t work.
My son is slightly different. He has been diagnosed with ADHD; he has difficulty concentrating. He just managed to get through school. The stress before his last exam got so bad that he collapsed with a glucose level of 1.2. He had a couple of mentos to try and help it but went into complete hyperglycaemia and went to the doctors. The doctor was so concerned that he could actually be awake at that glucose level, that he tested him for pancreatic cancer. Both of them have got hyperglycaemia if they’re not constantly eating, which is also another problem. And again, no one can currently explain, although I’m getting closer to understanding that.
His main problem was when at the age of 23 he went to the US to study, and he got progressively worse. He was on Ritalin. He was being given generic Ritalin because of the insurance company over there. And we found that generic Ritalin made him worse, whereas the branded Ritalin actually improves and gives him the opportunity to help relax his muscles, which is again contrary to what Ritalin should do according to the science.
He was involved with a number of things with the US government, which caused him to get progressively weaker. At the same time, he ended up with extreme PTSD, which was diagnosed as being at the top level. His muscles were slowly getting more and more compressed, and also at the same time weaker. However, he (similar to my wife) has very high adrenaline. So, when the adrenaline kicks in, he has extreme strength, way beyond what a normal person would have. He also has ultra-concentration for a period of about 40 minutes without damaging his heart or any of the other major organs. But at the end of it, it becomes extreme fatigue.
So, the things that are in common, both of them have autoimmune issues, although they are slightly different. They both have elevated CRP; they both have elevated ESR. My wife is normally between 40 to over 100 and it’s been consistent all her life. My son’s will vary depending on what situation he is in – it will vary from zero through to about 40 or 50. They also have slightly different para-protein results. My wife has got extremely high IgM, very low IgA and IgG. My son has got high C4, high C5 and low IgA. So that one varies slightly.
Both of them have generalised inflammation, which includes their face blowing up to looking quite different, particularly my son. He will go from a round face to a normal face depending on how much stress there is. With my wife, it is mainly through her gums. They’ve both had teeth problems because of the inflammation in their gums. We’re currently in a situation where my son’s muscles get locked up so much that he can’t breathe. If he has a flashback, particularly from the PTSD, I have to intervene and try and release the energy that’s built up in there. So, the diagnostic journey has been almost impossible because what has now been recognised after 35 years is that they suffer from multiple, very likely genetic conditions, all of them overlapping, all of them giving different symptoms. Having gone to probably five different neurologists, about six different psychiatrists, metabolic specialists, physiotherapists, everyone else, they all are looking for one thing. And of course, nothing ever fits. That’s really the reason why I ended up, after getting frustrated for such a long time, going I’ve got to do something. So luckily, the opportunity came up, and I thought, ‘Okay, maybe we can find this through the genes.’
FLG: The spectrum of symptoms that they have are so broad. What have been the challenges with people acknowledging that there is something going on? Why did you then start to do your own research as well?
Peter: The difficulty is that they look well. Particularly with my wife, she would only ever see people when she felt well enough to see them. No one ever saw them sick. My son hid it from himself. Because he thought, ‘Oh, heck, I’m getting sick like mum.’ He hid it from everyone – all of his friends. If he was feeling really, really bad, he wouldn’t go out and wouldn’t participate. So, most of the time, you talk to a doctor and say you’ve got all of these problems, then they just diagnose you with chronic fatigue and fibromyalgia (FMS). That’s the first one because they literally had the same symptoms. So, they’ve got every single one of the trigger points. They’ve got the muscle pain. They then go to a rheumatologist, they do all the tests and go, ‘No, it’s not that. It can’t be anyway because she’s got elevated ESR.’ Chronic fatigue is a generalised term that can be caused by so many different things. So, they were labelled in many cases as malingerers, because my wife couldn’t do long, extended work sessions. She would only be able to work for a certain amount of time. She was training to be a nurse. A week before she was about to graduate, she collapsed and couldn’t complete it. My son did three years of university, and after struggling to get to that particular point, one and a half units before the end, he called me and said, ‘I can’t get out of bed’. I had to fly to America to collect him he was that ill. The doctors in America who were dealing with him were saying that didn’t know what it was. We had a metabolic specialist in Malaysia who was looking at MAO deficiency because of the type of results that they had with all the catecholamines.
They have such unusual clinical results. They have high GGT but their liver is okay. And you talk to the doctor, and they say, ‘Well, you should have cirrhosis of the liver or have you been drinking?’ Neither of them drink. My wife stopped drinking when she was 30, yet she’s got a GGT of anything up to over 200. And nothing else in the liver enzymes. The kidneys are fine, the functionality is okay. But, for example, they have low B2, B6 and B12. B12 injections did help for a little while. But again, a lot of the medications that we try will work for about three weeks, and then they’ll drop off and no longer work.
Our GPs have been the most helpful of any of the doctors. Because in general, you go to a specialist, they’ll look at one particular area and say, ‘This doesn’t fit anything that I can see. I’ve only got 10 minutes. I don’t have time to investigate this. You don’t have the money to investigate this’. We’ve gone through stiff-man syndrome because at certain times my wife would walk along and suddenly completely freeze. She couldn’t connect her brain to the lower half of her body. There were times where their muscles were so locked up that we are now looking at a potential for myotonia and/or dystonia.
The only specialist who has ever really been able to help in all of these cases has actually been the psychiatrist because the psychiatrist is the only one who can do the medications. We found a psychiatrist in Malaysia who was trained in London and also lectures at Cambridge. The psychiatrist said the problems that my son had were not psychological problems but physical problems. Then the psychiatrist worked through this, and we explained what was going on in terms of things like the tachycardia and the stuff we were looking at for MS and she managed to get them on a drug regime that at least stabilised them. She was one of the very few doctors who actually really listened and sat down and she had long enough to be able to get to know them that she could go, ‘Look, I can see that there are all these problems’. She actually took over the primary care.
They’re on a combination of Prozac for depression. My son is on eight Ritalin a day, but he takes it in halves. Because if he takes one and a half his muscles lock up. If he takes none, his muscles lock up. We found these things over years and years of trial and error. Any other medication other than Prozac will make them both instantly suicidal. They’ve tried different medications and anything, particularly with norepinephrine involved in it, is disastrous for them. So, we also know that it’s within those particular pathways. But currently, there is no known disease that gives the results to be able to identify through their symptomology. So, it was really getting to the point where the most we could do is get them stable on a certain drug regime.
After 20 years, we came back to Australia, and suddenly they couldn’t get those drugs anymore. They wouldn’t accept overseas tests; they wouldn’t accept overseas diagnoses. The GP didn’t have the authority to issue any of the drugs. For example, they’re on high levels of diazepam to relax the muscles, they’re on high levels of Ritalin and my wife is on high levels of Prozac. We then had to go through the process of getting everything reassessed in a public system that takes up to a year to get to see a specialist. So, when we first got back the first two years, it took my son over a year to get his Ritalin. The heart specialist decided that he had a slightly different QT time, and therefore he wasn’t allowed Ritalin. When he finally got on Ritalin again, his blood pressure dropped from 220/120 to 110/80.
Again, it was things that we knew worked because we had been through experience, and we tried to explain it to the specialists, but you only get 10 minutes to talk to them. It’s only really now after we’ve gone through multiple specialists, and they’re getting to know us. For example, the latest comment from the neurologist when he saw my wife was, ‘I want to see these famous legs’ because everyone knows about this oedema that no one can understand. They’re actually starting to finally listen and talking between themselves to try a bit more of a multidisciplinary approach.
Now, the whole reason for me getting into the genetic side of it was because genetics seems to be the only real form of medicine left that is multidisciplinary. It actually crosses over the specialties. I’ve been using it purely to try and identify conditions through variants that exist with the two of them and not myself (as a comparison), which are in most cases completely unreported. They’re not in anyone’s databases and they are only predictive scores. But what they’ve done is lead me to illnesses that I had never even heard of, with symptoms that fit and start to make sense. Then, I’ll find another gene and search it and find out what it is related to. And then you find what symptoms fit which components and you start to build up an overall picture. Our GP now thinks it makes sense when I bring up a particular condition and there is a potential to change a few things, e.g. diets, which she can help with to try and at least improve their lives and get a bit more treatment. Then actually, once we can get some results from that, referring us to specialists, and going further and testing.
FLG: If we just take a step back – how did your genetics journey begin? What are some of the things that you’ve been involved in? I know you got involved with the iHope program – could you take us through this journey because I know it is an incredible one?
Peter: It was interesting. A friend of mine that I met in Malaysia happened to be a bioinformatician. He was a professor, he helped co-write one of the first books on bioinformatics, he’s also a biochemist as well. We had been discussing about the possibility of setting up our own lab and focusing more on the privacy issues of whole human genome sequencing, and being able to give people a lifetime analysis. He had the skills to be able to do predictive bioinformatics and he understands all the databases and everything about it.
As I was talking to Illumina about the costing and the business side of it, I happened to mention what was going on with my wife and son. They said, ‘We will talk to the iHope program and see whether they would be prepared to put you within their programme.’ And we were extremely lucky, at that stage there were only about 10 families covered within that.
Part of reason for why their conditions are so complex is because of our ancestry. I’m English, but my wife is of Ukrainian Russian heritage. I got interested in tracing the history and there is a potential link to the royal families of Russia, and ultimately back through to England. It is the complexity of their genetics and the number of variants. For example, for the two of them the number of variants is way higher than mine. We still don’t know why but they’re all mainly heterozygous results, they’re multiple entries within the same variant.
Then, when the iHope program came up, we thought, ‘Oh, wonderful, at last we can actually hopefully get some answers’. We were already starting to talk with Professor Matthew Cook at Canberra Hospital and the John Curtain School of Medical Research . And I said, ‘Look, would it be okay?’ because he was considering doing sequencing as well because they were his patients. He said, ‘Please go ahead’. So, after a couple of months, we managed to get that sorted out. Unfortunately, the results that came back were non-definitive. There was a stop gain variant that my son and myself have, which is related to my mother, to do with cardiomyopathy. The only other things were drug resistance, including to Prozac which explains why my wife needs three Prozacs and my son only needs one. It was incredibly disappointing. We hoped that this would pick something up.
We’ve gone through everything. For example, we’ve gone through porphyria because they do have the same symptoms, but they don’t have the relapses between. I even traced that one through the American and the UK Porphyria Association, etc. They’ve got so many things in common. And that was where we would have started to look for how to explain these symptoms.
Luckily, iHope had agreed that they would provide me with the data. So, they actually sent me the GVCF files and a number of the other original files. So, I spoke to Martti, who was the bioinformatician, and I thought, ‘Okay, where do I start?’ The main one was getting an editor to work so I could actually have a look at the files. I had a really crappy old Windows PC; it didn’t even have Linux to be able to do good programming on it. I started actually physically looking at the files. That was where it started. And then talking to Martti, he taught me a lot about what to look for, what not to look for, and a lot of the terminology.
I went through a lot of dead ends, and I went through a lot of bad starts. The very first time I tried I started to research what gene was related to a particular illness that I thought it might be, then grabbed the three files, searched for that particular gene, cut and pasted that into an editor and then manually went through and sorted out all of the particular variants so that I had three different files. I was finding in a lot of these cases that there were like 200 variants in Natalie’s file, maybe 180 in Sam’s and 60 in mine. So, I thought, ‘Oh, wonderful, this is fantastic’. And then I talked to a real bioinformatician, and they said, ‘They’re all totally irrelevant, and they’re not important’.
So, then I started going through and looking at every single RS number and referring that to dbSNP and ClinVar, one by one and looking at the frequency of it, and also whether it was pathogenic, etc. I went through that way, and came down with a group of genes, which still didn’t really define anything.
So, the next part of the journey was, I took some findings from that and sent it off to Professor Cook and I also sent it off to the head of the lab of the Garvan Institute in Sydney. I was trying to talk to as many people within the industry as I could to say, ‘What do I do with this stuff? I don’t understand’. And to be honest, I still don’t understand most of it. But Amanda Russell at the Garvan Institute then turned around and said, ‘Look, you’ve been going about it the wrong way. What I’d suggest is you look for unknown variants’. So, a friend of mine, who was a good Python programmer, helped me isolate a lot of things. And we cut the databases down a lot, and we eventually ended up with about 3,500 variants for my wife and roughly the same for my son, which were all variants with no RS number. They’re just basically a dot on the reference file.
And then from there, she also put me on to VarSome. And the good thing about VarSome was that you can trial it out for free and also the fact that when I went and looked at an indel which I’ve been using Variant Ranker for which is absolutely terrible with indels and has no predictive scores at all and has no information on them. It was starting to show some interesting results.
So what I do is I go through each variant line by line, close to 4,000 of each of them, find something that says it was uncertain, likely pathogenic or pathogenic or had uncertain significance and would look at what the gene was, go to GeneCards, see what diseases or what it was actually doing in terms of the proteins, then reference that with MalaCards to see what sort of symptoms were, and then coming back and going, ‘Okay, that starts to look interesting’. And then I slowly whittled it down to a list of uncertain, likely pathogenic, etc, into a very large spreadsheet, and then started sorting that spreadsheet. So, what I ended up with was a list for Sam and Natalie. I also did the same with pathogenic variants and isolated each of the major areas within the actual GVCF file. And then went back to the original file, looked at the particular entry and looked to whether they were high quality reads or bad quality reads and what were the actual genetic codes. I also put the three of them together and compared to see who had it and who didn’t have it. I then also cross referenced these to the exome sequencing that Professor Cook had done and again, he found really nothing of any significance to do with the immunological side.
I’ve come down now to the list of about five or six variants that are unknown, predicted to be likely pathogenic or pathogenic, aren’t even in CADD or DANN databases, either novel or generally extremely rare. For example, NAV1 is to do with paramyotonia, this starts to explain why they both get exercise intolerance and why their muscles are not releasing. The clinical indicators of what they have now start to make sense. I have then discussed this with my doctor, and she’s gone, ‘Okay, they’re unknown variants for dystonia and paramyotonia.’ And so, they’re now being examined. We’re now hopefully being seen by a neurologist in January and these are things that can be tested for.
It’s a difficult process, it’s an incredibly time-consuming process. VarSome have been absolutely wonderful, because what was happening was, I started running out of time limits, and I was getting throttled down to two or three a minute. And I was going through thousands at the time, so I requested and said, ‘Look, is there any chance of giving me access?’. All I was doing was looking them up, seeing how they affected, what sort of frequency and eliminating as much as possible out of that particular list. And they gave me basically unlimited, or I think it’s 60 per minute or something, so that I could constantly go through this, whenever I had spare time. I started at the beginning and 4,500 later I finished and went, ‘Wow!’ I had a whole heap I sent off to a number of people, some of them said, ‘We are not quite sure, maybe it’s not conserved well enough. We don’t think it’s necessarily protein encoding’. But at the same time, they fit certain criteria within their whole symptomology which is giving us enough ability now to hopefully be able to go and actually test.
Some of the things I have found, which have turned up as definitely pathogenic with very high CADD scores and everything, they have turned around and said, ‘Oh, they’re not rare enough’. And then I’ll look at the data and think at the same time you’ve got 14 saying its pathogenic and 6 that are saying it’s benign. And yet, some people who’ve got that particular variant aren’t sick, but at least we can test for it. I have challenged quite a few people and upset quite a few people by being a bit pig-headed about the whole thing. But at the same time what I learned from the techs at Illumina, from Martti and even the way Professor Cook’s teams looked at it, is that the standard is to filter out anything that’s slightly low quality. Even though in our case, it might be that Sam has a low GX, we both got passes, it would be completely eliminated from the whole database. Anything that wasn’t known, in most cases was eliminated from the database. Anything below a certain threshold in terms of frequencies was completely eliminated from the database. And virtually none of it was ever referenced back to their clinical results or their symptoms. That’s why I’ve come into it from a different way. I’ve done it very naively. And I’m not an expert. I’m getting a result and I still don’t know exactly how to properly read it within the gene readers or anything. All I’m going by is predictive scores helping to identify a potential illness that is one of at least, and even Professor Cook admits, between three and five separate overlapping illnesses, to then be able to give a way to be able to start clinically diagnosing.
And a lot of them just make sense. When you’re going through and you suddenly come up with, for example, paramyotonia and say they’ve got compression, but they don’t lose muscle mass, that’s one of the few things that does that. So, our GP is going, it makes enough sense now to be able to go to a neurologist and say, ‘Look at that, ignore the rest, ignore the fact that he’s had a high white blood cell count his whole life’. They look at the results, they look at everything going there, and they try to encompass that into one illness. And it’s an impossible way of trying to diagnose. And on top of that, because each of them is so specialised, and they can’t legally or ethically talk about any other specialty, you try to talk to them about how these interact, they clam up. They don’t have that ability to be able to do those things.
We unfortunately were in a situation in Malaysia where we lost everything due to unforeseen circumstances and an extremely bad partner. But if I had a lot of money, my dream was to get a specialist from every area and hire them all for two days in a room and sit down and say, ‘Okay, this is what’s wrong, here are long term results that no one can explain, but maybe if all of you put your heads together, maybe we can explain it’. That’s what I was hoping to do with the genetics. And so far, it seems to be showing results. I know that it’s a very different way, it’s probably a controversial way of doing it. And it’s extremely time consuming. But it seems to be getting results.
FLG: If we could use this interview as a call to action, what would be some of the support and/or expertise that you feel you need? What do you hope going forward?
Peter: I’m really hoping that the talk can help get more of a connect between the symptomology and the way that the data scientists think about what they’re doing. Because you have to somehow relate what the person is suffering to what you’re finding. Maybe it’s not possible, the fact that one thing is done by a lab, and it’s done through specific filtering and everything. When it comes to very rare things, it needs to be much more multidisciplinary and needs to look at the possibilities that can then be followed up clinically.
But the biggest problem that I have is, I’ve used KEGG, I’ve used a whole heap of other things to look at pathways and look at all the genes within a particular illness. The big problem I have at the moment, in relation to what my son suffers from, is that I can’t find any gene anywhere in the pathway that shows any results relating to sustained high adrenaline in the blood and in the case of norepinephrine almost unmeasurable in urine, extremely low HVA, which is showing the dopamine channels not working properly, but there is no explanation for that. And no one yet has been able to come up with anything. I’m hoping that a few of the things that they actually do suffer from which are clinical results, maybe someone within the community can go, ‘Oh, I’ve heard of that. Maybe have you looked at that particular gene? Or have you looked at another way of being able to go and diagnose it or there’s a specialist there who may understand it’. Maybe getting references from people, like what Amanda did, getting on to the Garvan Institute and saying, ‘Look, I can’t really help you. We can’t do the analysis, but I can help point you in the right direction’. I don’t mind doing the work, that’s what I’m here for to try and find it.
But when you go through all of the pathways and every gene and don’t find anything significant or different, but you know that this is something that maybe only the two of them have. Or maybe it’s related to something to do with the fact that they’ve got something obvious wrong with their blood. They’ve got high IRT times, they’ve got a high Factor X, Factor XI. Maybe it’s to do with low IGF-1. Strange things are at play with their symptoms. They have a lot of memory problems; my son’s PTSD came back because I tried lysozyme chloride as an anti-inflammatory. It worked for a while as an anti-inflammatory, but what it did was not only unlock both of their memories, but no one could also explain it. The more I’m researching it, lysozyme seems to be very closely related to memory, but I cannot currently get the supplies that I need out of Netherlands to try to see if it’ll actually help with the inflammation again because it’s not on the TGA list in Australia. It’s like so many of these things are difficult because we are going through their psychiatrist to try and see if we can find something different than Prozac. My son’s been on morphine now for quite a long time. He was on codeine before that, it’s the only thing that helps with pain. My wife is now close to allergic to codeine. We tried changing to methadone, half a tablet narcotised her for five days. Our pain specialist is going, ‘What?! I give out 100 milligrams a day and you’re saying 2.5 milligrams will narcotise her?’ More than 30 milligrams of codeine at the moment, will result in her losing her memory. But nothing else works. No one can explain why with current diagnoses, for example with FMS, none of those drugs will help with the pain or the psychosis. The only things that really help actually are Ritalin, diazepam, and opioids. And they’re extremely difficult to get in Australia, they’re so controlled, that we’ve got to go to a specialist every single time we want to try and see if we can amend it.
I suppose I’m looking to try to find someone maybe who’s a bit more diagnostic, a cross-specialist who may be able to look at their case, and I can show them clinical results over like 20 years, and they can go, ‘Maybe it’s this, try something else’.
Both of them are in a wheelchair. My son’s bed bound 22 hours a day. On top of that, if he has PTSD attacks, his muscles are totally locked up. I spend anything up to two hours a day massaging them both. I can’t work, I haven’t been able to for 15 years. Both of them need a wheelchair to go out. And they need maybe three or four days to be able to build their energy to be able to get to a point where they can go out. And then when they come back again, they’re totally exhausted again for another week or two. And every time we talk to someone, and I would have seen at least 50 different doctors over thirty years, they go, ‘Well, there’s something obviously wrong, we’ve got no idea what it is – go away’. And that’s literally been the attitude, ‘Go away. I don’t have time for this. I don’t have the resources for this’. And unfortunately, a neurologist doesn’t talk to a metabolic specialist. And there is no metabolic specialist in Canberra on top of it, even if the ACAD9 gene turns out to be correct. So, we’re hoping that maybe even someone can look at the results I’ve got, maybe look at what my overall database is and maybe run another analysis that is using a different methodology. Maybe they could just look at what the symptoms are and what the overall clinical results are and say, ‘I know something that may explain that’ or talk to someone and network.
FLG: Yes, it’s such a complex case, and I hope that someone watching this might be able to help you along your journey. But thank you so much for sharing your story today, Peter. It’s an incredible story and your determination is unbelievable. So, thank you so much.
Peter: Thank you.
