Complaints were made to Sydney Children’s Hospital, and twice to the Medical Board and the Health Care Complaints Commission (HCCC), with very detailed explanations why Alina’s illness simply could not be of genetic origin, and easily explained as a chronic Enterovirus. To even include unusual symptoms demonstrated in both Alina’s parents and grandparents.
Their responses are below with Alina’s father’s comments inserted where applicable.
From Dr Mary McCaskill, Acting Director Clinical Governance and Medical Administration -Sydney Children’s Hospital Network
On 11 November 2017 Alina had her first onset of seizures, she had a prolonged focal seizure. This presented as saliva pooling in the corner of her left mouth and clenched jaw then left hand and left mouth twitches/jerks, eye and head deviation to left. The seizure lasted 45 min in duration and ceased following the administration of midazolam. Alina developed a wheeze and stridor following the administration of midazolam and was administered dexamethasone. Alina was reported to have a normal neurological and general examination and after a period of close observation in hospital Alina was discharged home on no ongoing anticonvulsant treatment…
…The causes for this are varied and may include infective meningoencephalitis, structural brain diseases such as ischaemic stroke, inborn errors of metabolism such as non ketotic hyperglycaemia, mitochondrial disease, e.g. POL-G, and autoimmune conditions such as Rasmussen encephalitis and limbic encephalitis to name only a few
…On 5 December, Alina developed an ataxic or tremulous “movement disorder” in which she would become uncoordinated and jerky with non-rhythmic movements of her limbs yet not altered in her awareness during these movements
…In relation to the use of the ketogenic diet, a review of Alina’s case confirmed that she was resistant to the ketogenic diet. Alina continued to have her enduring seizure state despite being optimally ketotic on the ketogenic diet. The administration of glucose did not contribute to Alina’s poor response to treatment. The glucose administration was not a direct link and had no bearing to the subsequent issues Alina faced
…In January 2018, Alina’s Hb1Ac (a marker of glucose tolerance) was tested. These tests revealed that Alina’s Hb1Ac was 4.5% (N:4-6%) and therefore she did not have glucose intolerance…
Dr McCaskill recongises the start of the illness and yet fails to realise that these are the “red flag” symptoms of a viral EV71 seizure; Heavy drooling, stridor (and croup) resolved with midzolam
Also as noted, but unmentioned by Dr McCaskill, Alina's sensitivity to loud noises, tonsillitis, rash around mouth, a significant change in health following the 18 month MMR vaccination, persistent cough, temperatures (and sweaty head) and eye deviation-
It is also worth noting that during times of elevated stress (which resulted in seizures – following CPAP in particular). Interestingly, there is a video to demonstrate the result of stress (elevated cortisol/glucose uptake?) and increased levels of ataxia, shown to the neurological team on the 5th December. Resolved instantly with the simplest of stress relief solutions, a video of both before and after her crying. (supplement C). It was also at this time, the father was reassured by Dr. Sandi that there was no such thing as an afebrile persistant virus.
The claim that Alina was resistant to the ketogenic diet is extremely false, likely derived from the fact that the neurological team seemed to go to great lengths to hide its effectiveness (for reasons unknown, but a symptom noticed by the parents very quickly, who had incredible frustration with the neurologists to establish this) alongside phenobarbitone, anakinra and midzolam the ketogenic diet was very successful in treating Alina, as agreed by ALL members of the neurological team. Very strangely not a single team member chose to document this. An explanation as to how glucose and the EV71 virus are directly related has already been offered.
…While there were some slight improvements to Alina’s condition she had ongoing deteriorations of her seizures in addition to her EPC. The teams at the time felt there was some association with low ketones…
…Alina was presumptively treated with multiple anti-seizure medications, multiple courses of antibiotics and multiple autoimmune therapies and dietary therapy for epilepsy pre-emptively but she did not respond to any these therapies..
Midazolam had immediate benefit, stopping the first two seizures immediately, and even with deteriorating returns was shown to be incredibly effective as the illness progressed. As did clobazam,and phenobarbitone. The recognised and improved ketogenic diet (post Christmas in particular) proved effective enough to plan to discharge Alina from the hospital in the New Year after a tonsillectomy.
She responded very positively to anakinra, so much that within 7 days she went from a stage of a month's duration of heavy non-stop seizures to one where she was attempting to communicate and respond. Once this medicine wore off she returned to the previous state of heavy non-stop seizures (awake or asleep). This was also reflected in the EEG charts, videos and noted by ICU and neurologists.
This could have only occurred if the illness was a consequence of elevated Interleukin-1 (Il-1) and subsequently reduced with a very specific medication; anakinra, fitting exactly with the explanation of chronic viral EV71.
Prior to the noted improvement, the parents had agreed to palliative care, however following the success of anakinra, Dr Cardomone postponed this final step as Alina was no longer in a vegetative state.
Despite obvious improvements he then withdrew anakinra alongside the other effective treatments for EV71; magnesium and midzolam (and this was long before the return of the exome report).
This was highly unethical and manipulative, suggestive of a culpable and purposeful incentive to cause or hasten Alina's death.
So, the question that really remains, why wasn’t this medicine given to Alina again, or before (on admission)? Alina had a medical history of a chronic virus, with description emailed to Dr Sampaio.
Despite every single test returning negative for a genetic cause, Dr Sampaio chose to ignore these and question their reliability. Dr Sampaio did not chose to question the reliability of the viral test, which is known to be unreliable.
…Alina received a course of Anakinra on 9 February 2018. The parents reported to staff that they felt that Alina’s response to Anakinra was positive but Alina continued to have significant clinical and electrographic seizures despite the course of Anakinra..
…Alina’s course was typical of a supra-refractory status epilepticus from an inborn error of energy metabolism and whole exome sequencing identified a mutation in CARS2, a mitochondrial cysteinyl-tRNA synthetase gene which is known to cause mitochondrial dysfunction
… On the 22 March 2018, genetics results of the whole exome sequencing study had shown a likely pathogenic mutation in the CARS2 gene. The importance of this finding was that it provided evidence to the suspected clinical diagnosis of a likely incurable mitochondrial disorder…
Since it is now proven that Alina did not have CARS2 dysfunction, what did she have? Given that the genetics team researched and focused on every mitochondrial gene, from POLG to CARS2, an illness with slow but noticeable markers and deterioration over 20+ years. Even going as far as fabricating CARS2 as a theoretical possibility in silico in Helsinki, then you could confidently say they had researched every other alternative in between and found nothing relating to mitochondrial dysfunction. The CARS2 gene wasn’t even close in symptoms, however it was the best the hospital could do given an apparent and desperate need to avoid gross medical error by reckless endangerment resulting in homicide, The neurologists chose to falsify this as a genetic illness and thus avoid investigation, compensation and of course gross misconduct.
…After reviewing Alina’s case we can confirm that the administration of glucose did not contribute to her poor response to treatment. Alina had a rare in born error of energy metabolism, a mitochondrial disorder secondary to a genetic mutation in the CARS2 gene. Alina’s condition manifested as an enduring seizure state called status epilepticus
…In relation to the use of the ketogenic diet, a review of Alina’s case confirmed that she was resistant to the ketogenic diet…
It was abundantly clear with glucose being a significant trigger to the development of this disease, a fact reported many times by the parents, noted even as early as the 16th November 2017 regarding the change in formula from Karicare (reporting the replacement was making her wheezy). It wasn’t just a parent’s opinion, but a proven fact following testing on 26th December and even marked “seizure!” on the nurses' report card. It was also agreed by all members of neurological team, both Dr Sampaio and Dr Cardamone were using the incredible response to the diet as a measure of seizure activity, and in trying to from a diagnosis.
Falsifying medical reports and declarations is a criminal offence.
…I am sorry Mr Murtagh felt Dr Foster did not act appropriately during the conversation prior to Alina’s death. I am aware that Dr Foster has also recently written to you to offer you her sincere apology for any pain or distress caused by her interaction with you at the time. I would like to assure Mr Murtagh that SCHN take these complaints seriously and the ICU team have thoroughly investigated this issue and found that Dr Foster acted appropriately and apologies of any misunderstanding or miscommunication of the discussions on this day. From reviewing the matter, we believe that support from Social Work may have benefited the family at the time and the ICU has taken this lesson on board.
No letter was received from Dr Lily Foster. Being informed that the ICU has learnt a lesson is of no consequence either to the parents who still suffer from this conversation; a Doctor who gave a detailed explanation over the patient's bed of how morphine would cause a patient's lungs to collapse, how long it would take, and not knowing if it was painless or not. Then the parents then had to live this scenario only a few weeks later, while holding their only child.
- Treating your patients with respect at all times
- Recognising that there is a power imbalance in the doctor–patient relationship, and not exploiting patients in any way, including physically, emotionally, sexually or financially
- Communicating bad news to patients and their families in the most appropriate way and providing support for them while they deal with this information
Australian Medical Code of Conduct
…Unfortunately for Alina the clinical course was typical for a medication resistant EPC, from a mitochondrial disorder, which is untreatable. We would like to reassure Mr Murtagh and his family that Alina received the best standard of care possible. The treating team consulted with numerous medical teams across SCH (including sleep and respiratory, infectious diseases, genetics, metabolic, immunology, rheumatology, ENT), neurologists at Children’s Hospital at Westmead, and Neuroimmunologist from the Children’s Hospital Texas
…I acknowledge that Mr Murtagh does not wish to meet with SCHN staff at this time, however, please note he is welcome to contact us should he change his mind
Alina and family received far from the best standards of care. The arrogance of the neurologists and their unwillingness to accept advice other than that of their own choosing resulted in multiple arguments, gaslighting, falsification of notes and diagnosis, incredible suffering to a child and finally her death.
Consulting with external hospitals and offering incomplete information is nothing more than an exercise in confirmation bias. Had Dr Sampaio consulted with Alina's GPs, a very clear pattern would have been noticed: a chronic enterovirus, after which all other aspects, symptoms and responses of the illness fall exactly into place.
The actual response below from the Hospital when requesting an explanation after their official reply to the Medical Board & HCCC:
"Please note: that any further correspondence received in this matter will be read and placed on file. If you have a new complaint unrelated to matters already raised, you can lodge this with us by completing our webform."
"Providing a prompt, open and constructive response, including an explanation and, if appropriate, an apology" – Australian Medical Code of Conduct
The actual response from the hospital can be summarized as: lie, deny, don’t reply
Statement from Dr Hugo Sampaio to the Medical Board and HCCC
…It is correct to state that on several occasions Alina was prescribed doses of medications, most specifically antiepileptic medications, at higher doses than recommended. This is not unusual practice as for many of these medications the only data available is for adults and we know that children often metabolise medications faster that adults and consequently require higher doses. For many of the medications we are able to monitor for toxicity using therapeutic drug monitoring and also liver function testing. There was never a concern in either regard in Alina’s case. We also have the failsafe of multiple opinions regarding doses (detailed further below) and pharmacist review of all medication charts.
“I do wonder if we gave her too much medicine sometimes”, the reason given when asked why Dr Sampaio withheld medications for a very clear generalised seizure on the 12th January, in which she lost 50% of her cortex over a 7-day period. Implying that he had misjudged the situation on previous presentations, then applied that misjudgement to a new and different presentation (from a different set of circumstances – with an adenovirus, and so a different treatment and response is required).
- Recognising what has happened
- Acting immediately to rectify the problem if possible, including seeking any necessary help and advice
- Acknowledging any patient distress and providing appropriate support
- Only recommending treatments when there is an identified therapeutic need and/or a clinically recognised treatment, and a reasonable expectation of clinical efficacy and benefit for the patient
- Taking steps to alleviate patient symptoms and distress, whether or not a cure is possible.
- Giving priority to investigating and treating patients on the basis of clinical need and the effectiveness of the proposed investigations or treatment
- Placing the interests and wellbeing of the child or young person first
- Doctors have a duty to make the care of patients their first concern and to practise medicine safely and effectively. They must be honest, ethical and trustworthy
Australian Medical Code of Conduct
…In Alina’s case she proved refractory to all conventional antiepileptic medications, and also the ketogenic diet, canibidiol oil, metabolic and immune treatments (detailed further below).
- Keeping accurate, up to date and legible records that report relevant details of clinical history, clinical findings, investigations, diagnosis, information given to patients, medication, referral and other management in a form that can be understood by other health practitioners
- Being honest and not misleading when writing reports and certificates, and only signing documents you believe to be accurate
- Taking reasonable steps to verify the content before you sign a report or certificate, and not omitting relevant information deliberately
Australian Medical Code of Conduct
I think you only have to read the notes (even limited in inclusion), and the actions taken by the neurologists to protect the status of the diet, and listen to the audio to realise this is untrue in all counts. A diet that was so evidently significant in improvement is so obviously absent from the hospital notes.
Comments from the neurologists during meetings below:
“because of the ketogenic responsiveness…” Dr Sandi (18.12.17)
“The fact that she is responsive to the ketogenic diet… the ketogenic diet, I have to agree does seem to be helpful…. The ketogenic diet may have played a role” Dr Sampaio (20.12.17)
“We think it has been a factor… in general principle we are on the same page… we concentrate on the diet” Prof. Annie Bye (27.12.17)
And following improvements to the diet:
“She looks good… a big change” Dr Denise
“So alert… we’re on a winning track with the diet being helpful…. We’re on a winning track with the diet!” Dr Pillai (31.12.17)
“Sugar based? Definitely off the menu!” Dr Emma (03.01.18)
“I don’t disagree the diet does help… the diet is just a small valve… you’re defiantly right, it is the only valve” Dr Sampaio (22.01.18)
“because she has been so responsive to the ketogenic diet” Dr Cardamone (06.02.18) – who was focusing his diagnosis based on this undeniable association
I believe that is sufficient proof to confirm that by his own words and actions and that of his team, Dr. Hugo Sampaio is a liar.
…Alina did not satisfactorily respond to any of these interventions.
However, she did respond positively to the interventions. The responsibility of recognising the significance and association with known diseases falls on the knowledge, management, and ability of the leading doctor (Dr Sampaio) to make them satisfactory. However, he had made a snap judgement of an incurable genetic illness from the beginning, so primed himself with excuse for any failure and wrote the notes to only support this; he filtered the hospital notes to exclude or downplay the history, symptoms and remedies that did not match his initial assessment. Eventually it became obvious, and so he has since responded by lying, the hospital has supported this with an orchestrated qnd fabricated genetic report.
- Complying with any relevant policies, procedures and reporting requirements
- Being honest and not misleading when writing report
Australian Medical Code of Conduct
…In the last 2 decades there has been an explosion of research into immune causes for epilepsy and other neurologic problems. This has led to successful therapeutic trials of immune modulation in a variety of conditions, including refractory epilepsy. As such we (paediatric neurologists) are constantly on the lookout for immune presentations which may be amenable to treatment.
"Assessing the patient, taking into account the history, the patient’s views, and an appropriate physical examination. The history includes relevant psychological, social and cultural aspects." – Australian Medical Code of Conduct
Even with limited medical knowledge and only the internet, the parents could accurately estimate the best course of action, action that should have occurred in December or even earlier. The parents have total confidence had this medicine been used earlier, Alina would have made a full recovery.
…Alina did not have any evidence of immune activation in her evaluations (blood, spinal fluid and MRI tests)
The history of the illness demonstrates it falls exactly within the control group and category of chronic metabolic diseases for biopterins. The tests conducted are equally flawed.
…I reviewed this extensively, including with experts in the field (internally and externally).
Ignoring the medical history and providing limited information, and selective bias, so implying this was an acute illness as opposed to chronic has of course returned a different diagnosis.
The mum summarises it better (06.02.18), even without access to the medical notes she is suspicious of the motivation and attitude of the neurology team:
“the communication [with external Immunological Doctors] did not mention to these people the fevers, the upper respiratory tract infections, or prone to croup… if that information is not there, then its mitochondrial, if you add this information, then you have some other diagnosis…. There could be a lot of missing information about her croup, and cough, and fevers!”
…Despite this lack of evidence we did embark on empiric immunotherapy given her very refractory epilepsy and the perceived relatively low risk of treatment. This included high dose methylprednisolone and intravenous immunoglobulin early in her admission, this was repeated one month later. She did not show any response on either occasion. Further immune therapy is detailed in her case summary which occurred after my transfer of care, similarly without apparent benefit.
The significant reduction in anti-GAD levels and improved thyroid hormone levels is a clear example of the improved response. iViG was indeed repeated a month later, and on this occasion, Dr Sampaio went to extraordinary length in sourcing a sugar free solution, finally in recognition and acknowledgment of the consequential and damaging effects of the elevated glucose.
To claim there was no apparent improvement following anakinra is a lie. Also noted is that the hospital notes made by the neurologists show different observations to those recorded by the ICU team.
“Being honest and not misleading when writing reports” – Australian Medical Code of Conduct
…Responding to the specific concern raised regarding the potential for a viral cause for Alina’s presentation, I would like to note the following: to date viruses have not been found to be a common cause of EPC. Given the rarity of the problem we do, however, cast a very wide net in terms of clinical investigation. I note enterovirus 71 (EV71) has been specifically questioned. Alina did not display the typical characteristics of this virus. While this virus can cause myoclonic seizures it is its effect on the brainstem and spinal cord which is most devastating, in that it causes a polio- like syndrome. It has been pointed out that spinal fluid testing is not completely accurate in the testing of EV71. This is correct in that spinal fluid does not always return positive results in patients with proven EV71.
“does not always return positive results” is a generous interpretation of a test that has 0-3% accuracy in these conditions. Effectively useless.
“to date viruses have not been found to be a common cause of EPC”
Source: Explosive onset non-epileptic jerks and profound hypotonia in an infant with Alpers-Huttenlocher syndrome – published 2013. Expanded later on this website. An almost identical presentation, one in which the child suffered from an Enterovirus.
- Being honest and not misleading when writing reports
- Keeping your knowledge and skills up to date.
Australian Medical Code of Conduct
What we have learned (and published) is that if enterovirus is suspected, multiple specimens should be sent and also that, even though the virus clearly affects the nervous system, spinal fluid analysis is a relatively low yielding test. Our standard practice is to send multiple samples and in previous outbreaks we have been able to identify the virus in virtually all suspected cases using this approach. Although EV71 was not considered a likely cause for Alina’s presentation she did in fact have enterovirus testing on 15 samples (throat, nose, stool and spinal fluid) during the course of her admission.
Correct, and exceptionally low yield, and the badly calibrated PCR reported a chronic (-ve strand RNA) enterovirus, as a +ve strand RNA rhinovirus 4/4 times over 12+ days from admission. Similar to the GP’s testing (10/05/17). Only one stool sample was taken in this period (09/01/18), again likely calibrated to look for +ve stranded RNA only.
"This case demonstrates the difficulty in diagnosing enteroviral meningoencephalitis due to non‐specific symptoms and the low index of suspicion. It is thought that, in enteroviral infection, the virus is always detected in the gastrointestinal (GI) tract. However, in chronic encephalitis, by the time the disease is presented, the virus has seeded the central nervous system (CNS) and may have cleared from the GI tract and be undetectable in the stool"
“Keeping your knowledge and skills up to date.” – Australian Medical Code of Conduct
…In addition, the only known treatments for EV71 are high dose steroids and intravenous immunoglobulin, both of which she received multiple courses of.
Given Dr Sampaio’s willingness to over prescribe multiple medications approaching that of twice an adult (by her weight), I have no doubt that if he had the ability to recognise or even accurately document the symptoms and recommend a far more successful course and approach; such as anakinra, plasmapheresis, rituximab, xiyanping, LY2334737, LY-55, formycin A, colchicine, rupintrivir, amphotericin B, micafungin, mannitol, 3-methyladenine, ganglioside, etc, there are numerous, all demonstrated effective against EV71. The inclusion of treatments in his statement is excusing himself with “tickbox doctoring”
- Keeping your knowledge and skills up to date.
- Ensuring that your practice meets the standards reasonably expected by the public and your peers
Australian Medical Code of Conduct
…Alina’s case was complex and I was grateful for the help I received from colleagues. At Sydney Children’s Hospital neurologic cases are assigned to a lead consultant. In Alina’s case this was me as I was on call when she first presented on the 15th November 2017. I remained her primary consultant until the 20th January 2018. It is not uncommon for cases, particularly complex ones, to change hands for a fresh set of eyes. On this occasion it occurred as a result of a parental request. I recall feeling fraught at the time regarding the transfer of care as Alina was so complex and I had months of accumulated knowledge regarding her case. Ultimately though I did not see an alternative as Mr and Mrs Murtagh has lost their trust in me and our therapeutic relationship could not be salvaged.
Dr Sampaio demonstrates further misdirection. He knew exactly the reason why he was dismissed, he even apologised the following day on the return from his Tennis holiday that he “just didn’t react in time” to the different type of seizure, where Alina had suffered so much prior to intubation. It was not a surprise to him.
…I regret that this breakdown occurred but I would seek to reassure them that all through my time as Alina’s primary consultant, and even after handing over her case, I sought the guidance of colleagues within my department and also experts in the field. The latter included Professor Ingrid Scheffer (Royal Children’s Hospital Melbourne), world renowned and most respected paediatric epileptologist in Australia; Dr Deepak Gill (Children’s Hospital Westmead), head of the epilepsy programme; Dr Christopher Troedson (Children’s Hospital Westmead), paediatric neurologist and Professor Russell Dale (Children’s Hospital Westmead), world renowned expert in the field of paediatric neuroimmunology.
However, Dr Sampaio completely failed to contact the GP for Alina’s medical records to confirm the parents reporting of her chronic viral medical history, this failure resulted in endangerment of the patient and subsequent misdirection of opinion by reply, not allowing for an alternative perspective or balanced suggestion.
…I have reviewed their responses to me and am comfortable we followed through on all recommendations. I also consulted multiple specialists from other disciplines within Sydney Children’s Hospital, most notably paediatric intensive care, immunology, sleep medicine and ENT. I am most grateful, however, for the help of colleagues within the neurology department at Sydney Children’s Hospital.
…In summary, I trust this response is helpful in your determination of the facts in this highly tragic and complex case. I remain at your disposal to answer any further queries. In his complaint Mr Murtagh makes some comments about his perception of my attitude and motivation.
From the response above, and that from the Hospital, I hope it is clear that the comments being made do not reflect my true attitude and motivation.
In addition to questioning the perception of Dr Sampaio's attitude and motivation, the father also questions his cognitive dissonance and validity justification, qualitative reasoning, ability, medical knowledge and research, perception and observation, management, note taking, clarity, reaction time, and of course complete lack of honesty.
It appears Dr Sampaio is more motivated in falsifying and filtering the hospital notes from very early on, driven to prove an unlikely disease as suspected by the father from mid December, and supported by the neurological team
“We are actually working as a team… we totally endorse so far what Hugo has done and his investigations” (audio 23.01.18)
The reply from the Medical Board and Health Care Complaints Commission, on reading accounts from Dr Sampaio, the hospital and the parents
The peer paediatric neurologist provided a comprehensive clinical advice, as follows:
“The most likely cause of Alina’s condition was a progressive neurological disorder, of genetic origin. A mitochondrial disorder was likely, but that expert geneticists in the field would be best placed to consider whether the CARS2 genetic mutation was the specific cause. It is not the Commission’s role to determine the cause of Alina’s death.”
The Medical Board, like Dr Sampaio, is attempting to link the illness by clinical observations to juvenile Alpers–Huttenlocher Syndrome
- Most patients are initially healthy without symptoms before disease onset, but some can demonstrate nonspecific neurologic features of clumsiness, headache, progressive ataxia, hypoglycemia episodes, or mild medically controlled seizures before explosive onset
- AHS is an autosomal-recessive disorder induced by mutations in the POLG gene
- Findings on the EEG are similar to childhood AHS; parieto-occipital lobe predilection during the early periods of the disorder
- As the disease progresses, the findings on EEG change in location and can become more generalized in distribution
- As the disease progresses, most will develop simple sensory focal status epilepticus, EPC, and generalized motor status epilepticus. EPC is a motor seizure that involves only one part of the body, such as the hand, face, or arm, with a constant and repetitive clonic movement that may continue for hours to days with or without loss of sensorium or level of consciousness. A mistake can be made by the clinician by not considering they may be nonepileptic in origin
- Environmental factors, such as infections, can influence the presentation of AHS. In one series, 12 of 15 children who had confirmed POLG mutations presented with their first symptoms within 3–10 days of an intercurrent infection. The frequency of infections is not greater in patients with AHS, but the sequelae can be, although not always more severe. Viral infections seem to be more exacerbating of disease than bacterial infections. This may be connected to the evolving central role that mitochondria play in innate immunity
- Although AHS is associated with mutations in POLG, there are no universal mutations that exclusively give rise to disease. Over 60 mutations in POLG are known to cause AHS, both homozygous and compound heterozygous mutations
An example of very similar overlap with Alina, in virtually all presentation – published 2013 and mentioned earlier.
- A 10-month-old boy, with a normal perinatal history and developmental milestones presented following a mild coryzal illness with explosive-onset continuous, asymmetrical jerk-like movements involving the proximal shoulders, arms, lower limbs and neck.
- Despite treatment with combinations of diazepam, lorazepam, paraldehyde, phenobarbitone, fosphenytoin and midazolam the jerks persisted in wakefulness and sleep
- Introduction of thiopental and paralytic agents abolished the jerks, which reappeared on withdrawal of these agents along with the presenting clinical state
- Postnatal acquired microcephaly was noted
- The patient died from respiratory failure 68 days following illness onset.
- Cerebrospinal fluid (CSF) analysis showed normal lactate with elevated protein (516 mg/dL), lymphocytosis (49 mm−3) and enterovirus DNA
- The presentation described i.e. explosive onset repetitive non-epileptic jerks and profound hypotonia without impaired consciousness is a clinical description that has not been previously reported in AHS. Albeit in this case associated with enterovirus infection, POLG1 mutations should be considered in infants with this presentation
https://www.seizure-journal.com/article/S1059-1311(13)00198-2/fulltext
But to note, AHS is a syndrome (a collection of related observations). AHS is an autosomal-recessive disorder induced by mutations in the POLG gene. POLG is responsible for mtDNA replication and repair. The example of the 10 month infant had a recognised mutation in POLG in line with AHS, as well as microcephaly. Alina did not have microcephaly (her head circumference was only 7mm less than average for her age), nor any genetic mutations (POLG was checked several times, as well as a full exome revealing nothing other than the wild type). However, both this child and Alina did suffer with an enterovirus, skilfully identified by the doctor in the former patient, sadly not by Dr Sampaio. You could confidently argue that the only true consequence of this particular POLG mutation was simply microcephaly, all other overlaps were purely due to enterovirus, chronic on her occasion. For this child, because the poor lad is unable to repair his mitochondria. For Alina, because of the viruses chronic and accumulative nature, with insufficient time between for recovery (despite having a fully functioning POLG gene). This is also suggested in AHS “12 of 15 children who had confirmed POLG mutations presented with their first symptoms within 3–10 days of an intercurrent infection”
While the gene mutation may be responsible for physical or intellectual impairment, of which Alina suffered from nothing other than the late milestone of walking.
The logical belief held by the neurologists of gene association is not dissimilar to a comparative analogy: “Wind turbines are placed in windy areas, where the wind is stronger it's noticed that there are more turbines and they are turning faster. Therefore wind turbines are the source for generating wind.”
There was only a 6 week period between Alina's first seizure and the first suggestion of palliative care. Alina's seizure was triggered by her 18 month MMR, unquestionably from a pre-existing condition; a chronic enterovirus.
The approach taken to managing Alina’s complex symptoms was appropriate and noted that cases like Alina’s involve significant consultation with colleagues, other peers and multidisciplinary team members. In Alina’s case Dr Sampaio consulted with peers from other hospitals, both in Australia and overseas, to inform an evolving treatment plan as her symptoms escalated.
Whilst your views and research are acknowledged, the peer was not of the opinion that Alina’s symptoms were caused by glucose intolerance or viral encephalitis.
The opinion of the medical board is based on a the “buffed” notes by the neurological team. It's believed that all doctors uphold the Medical Code of Conduct. Dr Sampaio is a proven liar by his own words and team's comments. Perhaps this opinion is based on an incredibly flawed medical belief that chronic enteroviruses do not exist (explained later).
Every MRI of Alina clearly includes “cannot exclude encephalitis” .
The parents would be keen to hear an explanation of nearly 40 visits to the GP and alignment of every symptoms with a chronic enterovirus .
Unsupported “Opinion” and “Likely” do not explain or excuse; medicine is applied science, maths and reasoned logic.
The opinion is a credulous support of an incapable and dishonest doctor. Incidentally, the father requested a paediatric virologist/immunologist to review the hospital notes, anyone but a neurologist. The Medical Board employed an anonymous neurologist.
It was noted that your complaint was the subject of consultation with the Council before any assessment decision was made. The Council did not find any departures in Dr Sampaio’s care and treatment of Alina.
It would appear a doctor who is a proven liar, who is significantly unprepared, and completely out of his depth is in line with the expectations of the Council. The Council affords itself protectionism of its members and impunity by a self-governed executive privilege.
The medical community seems to have self-awarded societal protectionism, stultifying and dismissing any diametric contribution not made by the doctors, even with recorded evidence of the actual doctors themselves. The same doctors that had professional incentive to buff the notes and report an unproven genetic possibility to avoid further investigation. Purposefully withholding demonstrated beneficial medication is culpable homicide and concealment.
The clinical advice indicates that Dr Sampaio managed this complex clinical case appropriately and there is insufficient basis for further action by the Commission concerning Dr Sampaio.
Clearly there are differing accounts on what was communicated by Dr Sampaio. It is not unusual for the Commission to be faced with two differing versions of events, and in this case the medical records do not assist to definitively determine what in fact occurred. On this basis the review has not found a basis for further action by the Commission in relation to the care and treatment provided by Dr Sampaio-
The Medical Board and HCCC were both sent a link with both audio and video content and making both parties aware that it proved the fabrication of the hospital notes and actions of the doctors. It was a different and actual and accurate record of events. The Medical Board did not even open the link.
The Medical Board and HCCC now consider this matter closed, with no further appeals a coroner’s report was requested via personal appeal directly, and was rejected on the grounds that the Medical Board had sufficiently investigated the matter.
The police will not intervene in matters of medical enquiry .
Requests to the local MPs and the Minister for Health only result in direction to another department of enquiry – a rabbit hole. None of which will accept video and audio contribution. In NSW, you can only make recordings if you are protecting your interests. I have to ask when would a situation be more applicable?
Legal advice will not act without a coroner's or medical report, derived of course from the hospital notes, which are buffed and limited. The estimated costs of independent review cost $100,000+ , and they are restricted to the hospital notes also, the court will not accept audio and video recordings (that clearly show the true course of events and context).
Supplements
The maternal grandfather has diabetes, the grandmother has a number of nerve related conditions; ankylosing spondylitis and hemiplegia, frequent red eye and what is believed to have been bells palsy. Often, she is bed ridden and takes various medications such as vigabatrin.
Alina's mother suffered from deteriorating vision and hypothyroid during pregnancy, which was finally diagnosed as Hashimoto's Disease (an autoimmune disease)
The father suffered initially from alopecia in both calves, two years before Alina was born
https://edm.bioscientifica.com/view/journals/edm/2015/1/EDM14-0084.xml
This progressed to a monthly cycle of testicle pain, lethargy, vertigo for 3-4 days, followed by diarrhea. After 6 years of several pelvic scans, this was suggested as Chronic Pelvic Pain.
Interestingly all family members suffered in sites of immune privilege. Viruses are communicable, and this is more than coincidental.
Medical Science is based on false belief
Introduced in 1983 the RT-PCR replaced Northern Blotting in identifying viruses. An alteration and assumption was applied in 1989 to try and make RT-PCR more accurate by streamlining its operation, consequently more commercially viable too. The true consequence is catastrophic.
Or even…
And hence these papers were accepted as the standard medical interpretation regarding EV infections. Doctors do not believe in chronic (non-polio) enterovirus infections, they are not taught and barely researched.
However, these papers were based on poor laboratory design
The papers above were based on the methodology of the 1989 experiment by Kwok & Higuchi, so are of equal terrible design, that limited the testing to only identify the +ve (antisense genomic viral) stranded enterovirus RNA. Hence the belief that chronic enteroviruses do not exist, or are self resolving.
Consequently for 30 years, medical science has been working blindly, stemmed from these papers by only identifying half the virus types, by only identifying the acute variations. RT-PCR has become the global industry standard for identifying and excluding viruses as a root cause for persistant illness . This error includes the body of works and opinions from the consultants of Immunology and Neurology papers written since.
This is not exclusive to enteroviruses. Other single stranded +RNA viruses in which RT-PCR is used to identify include:
- Nidovirales (Arteriviridae, Coronaviridae, Mesoniviridae, Roniviridae)
- Picornavirales (Dicistroviridae, Iflaviridae, Marnaviridae, Picornaviridae, Secoviridae, Comovirinae, Bacillariornavirus)
- Tymovirales (Alphaflexiviridae, Betaflexiviridae, Gammaflexiviridae, Tymoviridae)
- Astroviridae
- Caliciviridae – includes Norwalk virus
- Flaviviridae – includes Yellow fever virus, West Nile virus, Hepatitis C virus, Dengue fever virus, Zika virus
- Hepeviridae
- Nodaviridae
- Statovirus
- Togaviridae – includes Rubella virus, Ross River virus, Sindbis virus, Chikungunya virus
For the Picornavirales alone, there are 81 non-polio and 3 polio enteroviruses that can cause disease in humans. Of the 81 non-polio types, there are 22 Coxsackie A viruses, 6 Coxsackie B viruses, 28 echoviruses, and 25 other enteroviruses. This does not include the novel enteroviruses such as C105… recently discovered.
You may recognise a virus on this list. COVID of the Coronaviridae family.
https://www.cdc.gov/coronavirus/2019-ncov/long-term-effects.html
Symptoms very similar to a Chronic Enterovirus infections:
- Difficulty breathing or shortness of breath
- Tiredness or fatigue
- Symptoms that get worse after physical or mental activities
- Difficulty thinking or concentrating (sometimes referred to as “brain fog”)
- Cough
- Chest or stomach pain
- Headache
- Fast-beating or pounding heart (also known as heart palpitations)
- Joint or muscle pain
- Pins-and-needles feeling
- Diarrhea
- Sleep problems
- Fever
- Dizziness on standing (lightheadedness)
- Rash
- Mood changes
- Change in smell or taste
- Changes in period cycles
The nearly 30 years of this firm belief in the medical community that Chronic Enteroviruses do not exist, they are self resolving. So many “auto-immune” diseases that are explained so more readily by the -ve RNA strand, which on acute infection is present at 100:1 ratio, and from successive generations of replication this is reduced to a demonstrated 1;1 ratio. In particular when you consider the have an affinity to “seed” in areas of immune privilege, where they are not cleared from the host easily, areas like the Central Nervous System.
This includes the Vagus Nerve; the Gut-Brain connection. Now consider all the organs along this nerve; the heart, the lungs, the pancreas, the thyroid.
1% of the global population has type 1 diabetes, 9% have type 2.
Auto-immune diseases are where the medical community believes the body mistakenly attacks itself.
The body is a billion years in design, its does not now seem plausible that it would simple “attack itself” without reason. RT-PCR is 30 year in use, and its being used incorrectly.
We know, very sadly that the virus can be passed vertically (even during gestation, Alina was exhibiting Myoclonic jerks on hearing loud noises, and mum had a troublesome pregnancy, late delivery by C-section) as well as between direct family & partners. From research into this illness, the virus has evolved to produce more chronic RNA variations than anticipated. The actual illness is very mild, exceptionally (as suggested and personally experienced). The damage caused by repetition from an over responding immune system is catastrophic.
And we know from experience with Alina, the triggers are elevated stress and cellular glucose for Enteroviruses EV71.
This mistake, to rapidly prepare samples for diagnosis has become standard medical practice, forming the basis of significant incorrect diagnosis, vaccine design and research and teaching since. It appears that half of immunology is fallacious pathological science, the chronic half.
After trying to calm Alina for about 90 minutes in a stressful situation, the noisy ICU ward at Sydney Children’s Hospital. Noticing she was developing “Ataxia” a video was taken (as noted 5/12/2017). I had tried a lot of tricks, distractions, cuddles, books & toys. She always enjoyed playing with wallets, they had lots of pockets, coins and cards to take out and inspect
After 90 minutes I needed to use the rest room, so left Ali briefly. When I returned, she was significantly different, co-ordinated and acting like her typical self, playing with wallet and taking it apart
I asked the Nurse what had happened? “Oh as soon as you left, she got upset & started to cry. I picked her up and she had a cuddle for a minute, so I put her back down”
Charles Darwin was curious why Humans were the only animal that truly cried when stressed. It would appear in the example that crying offers the benefit of tempering chronic viruses
Alina was particularly stressed in hospital (elevated cortisol?), especially noticeable during the set-up of an EEG – which takes 10 minutes to glue the sensors to your head and during she was not allowed to be touched. The overlap with stress was discussed with the Neurology team
She was at her most relaxed in the environment of her Mum and Dad, Aunts and friends, listening to normal conversations, having her hair played with. Ali had particular friends who just made her laugh uncontrollably and was besotted with; Rahul, & Prachi. (Videos playing with watch and necklace, and being teased with hanging keys) as seen in the videos introducing Alina
Association of Enterovirus and Diabetes
- Lead researcher Dr. Maria Craig, an associate professor at Children’s Hospital at Westmead’s Institute of Endocrinology and Diabetes in Sydney, said, “The finding implies that enterovirus infection is a very important cause of Type 1 diabetes.” Craig noted that the idea that enteroviruses are involved in the development of Type 1 diabetes is not new, but this study makes use of new data that makes the association more likely.
- Dr. Didier Hober, a professor of virology at University Lille in France and author of an accompanying journal editorial, said, “The increased incidence rate of Type 1 diabetes can be explained by a role of environmental factors, especially enteroviruses, like coxsackievirus B.” However, it is unclear whether enteroviruses are involved in all patients or just some, he added. “Enteroviruses could act as inducers of the disease or as accelerators of the progression of the disease. A persistent infection or consecutive infections could play a role,” he said.
http://www.diabetesincontrol.com/cold-viruses-appear-linked-to-type-1-diabetes/
- Dr. Craig has also linked the cause to a chronic variation of Enteroviruses
- EV infection and autoimmunity
- Enterovirus VP1 capsid stained + in pancreatic tissue in a child repeatedly positive for islet cell antibodies
- No inflammatory changes in islets No reduction in beta cells No insulitis, apoptosis
- Findings suggest that (chronic) EV infection contributed to positive islet cell autoantibodies
- Enterovirus infection is likely to be implicated in some cases of type 1 diabetes, and possibly other forms (type 2, fulminant)
- Metabolic abnormalities of diabetes mellitus such as hyperglycemia and hypoglycemia could have a damaging effect on the CNS, which may cause seizure; indeed, in endocrine disorders, seizures could be the result of neuroinflammation, autoimmunity, or of metabolic disturbances
- In particular, anti-glutamic acid decarboxylase antibodies (GAD-Ab) have been associated with T1DM and a large variety of neurological conditions, including epilepsy (43, 44). GAD-Ab have been detected in 80% of patients with new diagnosis of T1DM
From Alina’s first admission to Canterbury Hospital, it was noted a “high stepped gait”
Diabetic Neuropathy and Gait: A Review
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5688977/
Additionally, the images sent to Dr Sampaio of “cheese triangle sized white patches”, or Ash-leaf spots typically associated with Tuberous Sclerosis also are interruptions of the mTOR pathway
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520048/
Entero means from [within] the gut
Hippocrates, the father of medicine is attributed to stating “all disease begins in the gut”