Screening rare genetic disorders

Screening for rare genetic disorders

It seems to me a wonderful imperative in a modern socially responsible economy such as Australia to give all would-be parents the opportunity of screening for the numerous rare genetic disorders when planning their families.

My fear however is that short sighted governments won’t see the long term economic benefits when assessing whether to make screening universally available as suggested in this article in the Sydney Morning Herald.

Like cancer screening, will governments take the view that it is too expensive an upfront cost, and ignore the huge economic benefits in avoiding future treatment costs for the people afflicted with the genetic disorder? I sincerely hope I’m wrong.

 

Related articles

Fertility and pre-natal genetic testing

 

Genetic testing – how can it go wrong?

Can recorded conversations be used in evidence

Recorded conversations – can they be used in evidence?

One of the most common questions I’m asked about, particularly in criminal matters and medical negligence cases where clients have recorded conversations with physicians, is whether recordings taken during private conversations without the consent of the other party can be used in evidence against them or in their client’s defence. Simply, the answer is ‘no’ but with exceptions.

Section 7 of the Surveillance Devices Act 2007 (NSW) prohibits the installation and use of listening devices to overhear, record, or monitor private conversations to which a person is a party. The exceptions are probably fairly obvious and include a situation where a person impliedly or expressly consents, the use is in the context of authorised police operations and in the protection of rights in relation to refusals to participate in police interviews.

In the recent Court of Appeal cases of Bandao v R, Bruce v R [2018] NSWCCA 181 however, the Court stepped out the means by which a party could introduce evidence of recorded conversations where the evidence they gave under cross-examination relied on it. The two men had been convicted of various sex charges on two women. On the evening of the alleged offences the girlfriend of one of the men (Ms T) took a recording of her discussions with one of the complainants.

During the trial the barrister for the men began asking a series of questions of the complainant in cross-examination about the conversation. It soon became apparent that he had access to a recording. The recording was disclosed to the Crown who then gave a copy to the complainant (whilst still in cross-examination – a serious ‘no no’). All hell broke loose. The Judge was not happy and an application followed to permanently stay the prosecutions. The men were however ultimately convicted.

On appeal it was apparent that the recording was illegal, among other things, because Ms T took the recording to protect her own interests and those of her boyfriend. However, had the defendant made application under the Evidence Act s138 prior to Ms T giving evidence, then the Court would have had the discretion to allow it into evidence and for a copy to have been provided to the complainant prior to her giving evidence.

 

Using social media as a platform for business promotion – be careful

Staff stories: Heidi Bradburn

Staff stories: Heidi Bradburn

My journey towards studying and practicing the law began with a false start following a very uninspiring work experience placement that I had at a small law firm when I was in Year 10 at High School. That placement taught me that being a solicitor involves filing and filling out forms. I had more creative aspirations so decided to pursue a BA (Mass Communications) degree rather than a law degree.

While completing that degree, I regularly performed as the singer with an indie-pop band on the Sydney live music pub scene which was flourishing at the time. Upon completion of the degree, I set off to explore the world on a working holiday visa that saw me working in various locations around Scotland in between travels over the course of 4 years. During that time, I also joined a few bands and performed at festivals and venues around Scotland and Ireland, including the Edinburgh Fringe Festival. My favourite venue at the Edinburgh Fringe, the Spiegeltent, was run by a team of Aussies and featured an amazing eclectic groups of bands and performers predominantly from Melbourne. Inspired by the Melbourne music scene, I moved to Melbourne myself and began performing with several groups there as well as at festivals around Australia and the Pacific.
Throughout my studies, work, and travel experiences, my understanding and appreciation for social and environmental justice causes had been steadily developing. Initially, I took action through song-writing and performing at rallies and fund-raisers before undertaking a Diploma in Environmental Management. As part of that Diploma, I studied aspects of environmental law and undertook a placement at the Environment Defenders Office (EDO), a community legal centre for environmental issues. I loved that the EDO not only provided legal advice to individuals and community groups but also conducted community workshops, produced public information resources, undertook research projects and contributed to public inquiries.

When my placement at the EDO finished, I was offered and accepted the position of Administrator there. Working at the EDO, I discovered that although lawyers do fill out plenty of forms and produce a massive amount of filing, they also undertake a range of other interesting and challenging tasks, including research, analysis, drafting, client interviewing and much more. I was inspired to undertake a law degree after all!

During the course of studying my law degree part-time, I began working in the vocational education and training (VET) sector as an elearning project manager, consultant and mentor. This involved facilitating and delivering workshops and mentoring opportunities for trainers in the VET sector who were keen to modernise their training and increase their reach through the use of technology. Around this time I also met my partner, John, who likewise worked in the VET sector.

About half-way through my studies, John and I welcomed our first child into the world and we moved to beautiful Port Stephens. Two years later, our second child was born. In an effort to balance motherhood with work and study, I decreased my study load. As a result, it took far longer to complete my degree than I had ever imagined. There were certainly times when I was tempted to give it up but I am so pleased that I didn’t. I completed my law degree with honours and went on to complete a graduate diploma in legal practice prior to being admitted as a solicitor.

In an industry that is often criticised for its out-dated traditionalist approach to work-life balance, I have been fortunate throughout my career thus far to have been given the opportunity to work family-friendly hours, including here at the Law Office of Conrad Curry. Working primarily as a personal injury practitioner, I find it very rewarding to work each day toward helping individuals navigate complex legal systems in order to obtain the financial assistance they need in difficult times. In my role here at the Law Office of Conrad Curry, I am developing experience in assisting victims of medical negligence in obtaining fair compensation for the traumatic ordeals that they or their loved ones have suffered. I am particularly inspired by the potential for systemic change that can flow from such matters through impacts on hospital policies and professional best practice.

Staff stories: Jasmine Foster

Staff stories – Lauren Faulkner

Genetic testing gone wrong

Genetic testing – how can it go wrong?

Australia claims to be a world leader in genetic testing and in the diagnosis of genetic abnormalities in the pre-implantation phase of IVF and the early pre-natal stage. With such touted expertise, we are entitled to expect accuracy in diagnosis, aren’t we? After all, the decision to proceed with the pregnancy will have profound consequences for parents, families and the affected child concerned if the results of the tests were wrong. In most cases the choice to have genetic testing arises because one of the parents suffers the genetic disorder themselves or is a carrier and does not want to burden a child with the genetic disorder. Unfortunately, genetic testing errors keep occurring despite the rhetoric from genetics laboratories as to their status as world leaders.

Despite butt-covering claims that the results were skewed because of ‘biological’ circumstances beyond laboratory detection, most of the mistakes in diagnosis arise because either the incorrect test was carried out (believe it or not), or the test was not carried out in accordance with accepted and adopted professional standards and protocols sufficient to exclude errant results.

The Law Office of Conrad Curry now has a number of cases where parents who have sought genetic testing, either as part of the IVF process at the embryo stage prior to transfer and implantation or through pre-natal diagnosis, have been let down by genetics laboratories with incorrect negative results. Now they are left with the responsibility of a life-long commitment to the care of profoundly disabled children. The personal, emotional and financial commitment is enormous and literally life changing. Whilst these parents are loving and devoted to their children (this cannot be denied), they are entitled to hold laboratories and genetic services to account, if no more than to provide for the health and allied health services required by their children to live the semblance of a normal life.

The Law Office of Conrad Curry is passionate in ensuring that individuals have a voice when affected by incorrect negative results or inaccuracy in genetic testing.

If you have been affected by negligence in genetic testing, please call us today to speak to our friendly team.

 

Fertility and pre-natal genetic testing

 

Medical negligence and reproductive negligence

Medical negligence and reproductive negligence

Medical negligence and reproductive negligence

Reproductive negligence

More and more people are turning to health care professionals to help plan their families, whether that is to conceive via reproductive technologies such as in vitro fertilisation, to allow prospective parents a greater level of control over the avoidance of genetic traits or disorders, or to obtain advice and treatment by way of surgical sterilisation to prevent the birth of further children.

Decisions about having children more than any other decision in our lives shapes who we are as individuals, what we do and what we will be remembered for. Most people find profound enjoyment, fulfillment and meaning in pregnancy and parenthood, and so, the interference with reproductive plans is a serious affront to us as human beings. With scientific advances and highly educated and skilled practitioners who are paid a high price for their skill and expertise, we are entitled to expect that their skills and knowledge will be applied in a way that avoids mistake or chance, and that our decisions are carried out to full effect.

Unfortunately, the level of clinical and pathology mistakes is alarmingly high in a field where there can be no higher objective for treatment and professional care. Few people in our community are aware of their legal rights and remedies for redress arising from the avoidable errors which plague the broad area of reproductive medicine. This is why I am so passionate about my work in seeking redress for victims of reproductive negligence in the field of reproductive medicine.

The topic is vast, and I am simply unable to do it justice to it in such a short piece. However, I will try to touch on just a few examples of issues I have encountered in my years of practice in reproductive negligence.

There are three broad categories of reproductive negligence in the field of reproductive medicine:

  1. Failed sterilisation – imposition of unwanted pregnancy
  2. Deprivation of pregnancy
  3. Birth of children with unwanted genetic traits

Tubal ligation and reproductive negligence: Erin’s story

Vasectomy and reproductive negligence: Tony’s story

Deprivation of pregnancy and reproductive negligence: Michael & Stacey’s story

 

 

 

 

 

Vasectomy and reproductive negligence Tony's story

Vasectomy and reproductive negligence: Tony’s story

Male sterilisation: Vasectomy

Vasectomy is a surgical procedure for male sterilisation or permanent contraception in which the vas deferens are cut and tied or sealed so as to prevent sperm entering into the urethra and thereby preventing fertilisation through sexual intercourse. The procedure is not fool proof. Whilst most failures happen in the first few months after the procedure when live sperm may still be in the man’s semen, vasectomy can fail for example if the doctor misses the vas deferens during the procedure or where the cutting and closure of the tubes is not effective and the vas grows back (re-canalization). It is extremely important that there are repeat sperm assays over an extended period to ensure that there is no sperm in the semen. Doctors should advise of the necessity of repeat sperm assays.

Reproductive Negligence Case Study: Failed Vasectomy – Tony’s Story

Tony was divorced after many years of marriage. He hadn’t need to worry about contraception because his wife had a hysterectomy after complications with their fourth child. Tony was still sexually active and planned to have casual relationships after his separation, not ever wanting more children. Tony saw his doctor who referred him to a urologist. A vasectomy was conducted in day surgery and Tony’s care was referred back to his G.P. Tony was not advised to have follow-up sperm assays.

Tony entered a casual sexual relationship with a woman and told her that he had had a vasectomy. The woman, who was in her late 30’s, fell pregnant and ultimately gave birth to a child with down syndrome. Later paternity tests showed that the baby was Tony’s and subsequent tests revealed that the vas had re-canalized soon after the procedure because of the procedural shortcomings. Tony sued the urologist and his G.P. in negligence for their failure to advise of the necessity to have repeat sperm assays and the risk of re-canalization.

The Law Office of Conrad Curry is passionate in ensuring that individuals receive appropriate treatment during all aspects of sterilisation treatment.

If you have been a victim or suffered loss as a result of medical negligence, call us today to speak to our friendly team.

 

Deprivation of Pregnancy – Fertility clinic: Michael & Stacey’s story

Tubal ligation and reproductive negligence: Erin’s story

Reproductive negligence - tubal ligation - Erin's story

Tubal ligation and reproductive negligence: Erin’s story

Female sterilisation: Tubal Ligation

Tubal Ligation is a permanent form of contraception and is intended to be non-reversible in which the fallopian tubes are blocked or occluded with the placement of clips. It can be conducted by laparoscopy (keyhole surgery) or laparotomy (in which there is a small incision in the lower abdomen to give access to the fallopian tubes) and usually under a general anaesthetic. Tubal ligation might also be conducted during a caesarean delivery. The clip, if effectively placed, prevents the eggs released from the ovaries travelling down the fallopian tubes and coming into contact with sperm. Instead the eggs are absorbed into the tissue. The procedure is very effective in preventing pregnancy. However care must be exercised to ensure that the clip is positioned correctly on the appropriate part of the tube to ensure the tube is occluded, otherwise an egg can travel past the clip and through the fallopian tube. If pregnancy does occur there is an increased chance of ectopic pregnancy.

 

Reproductive Negligence Case Study: Failed Tubal Ligation – Erin’s story

Erin and her husband had 3 children in fairly quick succession. It was always their plan to have 3 children and no more given the financial pressures of having a young family. To make matters worse all three babies were delivered by caesarean section given issues with her cervix. Erin planned to return to work to ensure that she and her husband could give their kids a good quality of life and a good education. During the third pregnancy, Erin consulted her obstetrician and asked about the options available to her for sterilisation. The doctor recommended tubal ligation after the caesarean.

Erin’s third child was delivered and tubal ligation was performed, with clips placed on her fallopian tubes to prevent further pregnancy. About 8 months later Erin found out that she was pregnant with her fourth child. Whilst they had no plans for another child, Erin and her husband could not morally terminate the pregnancy. The child was again delivered by caesarean and Erin elected for a salpingectomy where the fallopian tubes are removed altogether. The tubes were sent to pathology where it was discovered the one of the clips had been poorly placed very high on the fallopian tube and had failed to block the tube.

The baby was born perfectly healthy, but there was an intense emotional impact of Erin and her husband, who were forced to change their life plans. Erin was also left with serious gynaecological issues as the result of the numerous caesarean sections. Intimacy in her relationship with her husband suffered as well.

Erin was successful in proceedings against her obstetrician for the pain and suffering she endured during the pregnancy, the caesarean, the gynaecological symptoms and the emotional impact on her as the result of the pregnancy and the birth of the unplanned child.

Note: Since November 2002 in NSW damages cannot be awarded for the costs of raising a perfectly normal child or any income loss arising as the result of the time away from the workplace arising from the time to care and raise the child. However, damages are available for the costs of rearing a disabled child over and above the costs applicable to raising a normal child.

The Law Office of Conrad Curry is passionate in ensuring that individuals receive appropriate treatment during all aspects of sterilisation treatment.

If you have been a victim or suffered loss as a result of medical negligence, call us today to speak to our friendly team.

 

Vasectomy and reproductive negligence: Tony’s story

Deprivation of pregnancy and reproductive negligence: Michael & Stacey’s story

 

Reproductive negligence - fertility clinic - deprivation of pregnancy

Deprivation of pregnancy and reproductive negligence: Stacey & Michael’s story

Reproductive Negligence Case Study: Deprivation of pregnancy – Stacey & Michael’s story

When they married, Michael and Stacey planned to have two children and hoped very much that they would have one of each. Unfortunately, Stacey suffered from endometriosis which meant that she suffered a great deal of pain during sexual intercourse. It also made conception very difficult. To make matters worse Stacey had a diminishing number of eggs and was very concerned about the risk of ectopic pregnancy.

Michael and Stacey sought a referral to a fertility specialist and undertook in vitro fertilisation. During the first 11 cycles, where viable eggs were harvested they were fertilised with Michael’s sperm. A number of cycles had failed to produce fertilised embryos and where viable embryos had been obtained, implantation had failed. It was an exhausting and emotionally difficult journey for both of them, not to mention expensive. It had the largest psychological impact on Stacey particularly given the increased difficulty in obtaining eggs. The couple had all but given up.

On the twelfth cycle four eggs were harvested and fertilised with Michael’s sperm. All were stored by the IVF clinic and Stacey continued through the cycle in readiness for transfer. The fact that there were four fertilised eggs was very encouraging because it meant that there were further opportunities for transfer. Shortly prior to the planned transfer, the incubator containing the fertilised eggs was switched off accidentally when a pile of cases notes was placed on the bench against the incubator. This action triggered the on/off switch and the embryos were destroyed.

The destruction of the embryos was devastating and marked the end of the couples’ reproductive plans. Both Michael and Stacey suffered psychological disorders affecting every aspect of their lives, including the ability to work. Michael and Stacey threatened proceedings for damages. Fortunately, the fertility clinic admitted their contractual and tortious breaches and resolved the case out of court.

The Law Office of Conrad Curry is passionate in ensuring that couples receive appropriate treatment during all aspects of fertility treatment.

If you have been a victim or suffered loss as a result of medical negligence, call us today to speak to our friendly team.

 

Vasectomy and reproductive negligence: Tony’s story

 

Tubal ligation and reproductive negligence: Erin’s story

Medical negligence and malpractice cases

Medical negligence and medical malpractice cases

At The Law Office of Conrad Curry, we have acted for a large number of clients who have suffered injury as a result of medical negligence.

Our experience includes the management and resolution of a broad range of medical negligence disputes including:

  • wrongful birth – failure to properly carry out genetic testing for fragile X – child born with fragile X, global development delay
  • genetic false negatives in IVF and pre-natal testing resulting in wrongful birth
  • the administration of gentamicin resulting in nephrotoxicity and ototoxicity
  • birth hypoxia resulting in cerebral palsy
  • overdose of narcotic pain medications both fentanyl and morphine resulting in the first case in respiratory arrest and the second in death
  • failed diagnosis in respect of bowel and stomach cancer
  • failure to diagnosis le fraumeni (genetic pre-disposition to cancer)
  • failure to properly treat patients presenting with acute coronary syndrome resulting in myocardial infarction causing reduced functional capacity or death
  • failure to diagnose stroke and treat by way of thrombolysis
  • surgical mishap resulting in damage to arteries, stroke and death
  • brain surgery resulting in haemorrhage and stroke
  • failure to diagnose brain aneurysm resulting in haemorrhage and stroke
  • mismanagement of infection post ankle arthrodesis resulting in osteomyelitis and the amputation of left lower limb below the knee
  • failure to properly treat ectopic pregnancy resulting in rupture of the fallopian tube and affected the mother’s fertility
  • neonatal death as the result of failure to diagnose and properly treat incompetent cervix
  • septic shock as the result of negligent dental treatment
  • anaesthetic awareness in surgical procedures
  • failure to diagnose and properly treat fibroids resulting in full-abdominal hysterectomy in young single female
  • failure to properly treat pneumonia in a young child resulting in brain hypoxia and developmental delay
  • nerve injury subsequent to unnecessary nerve block
  • failure to properly reduce fracture resulting in nerve damage
  • incorrect transfer of patient post-hip replacement surgery
  • failure to diagnose anastomotic leak after bowel resection
  • death as the result of failure to monitor oxygen levels
  • damage to urethra during catheterisation after kidney stone procedure

 

Medical negligence and heart attack

Medical negligence and pre-eclampsia – Corinna’s story

Medical negligence and ectopic pregnancy

 

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Doctor Shopping and Prescription Pain Medication

GPs and danger of addictive prescription pain medication

An area of concern which has grown immensely over the last two decades is the overuse and abuse of prescription pain medication.

Studies in the United States of America and Canada reveal that there has been a 68% increase in unintended deaths associated with opioid use in the first 2 decades of this millennium.

Moreover, the correlation between unintended deaths and the steep increased prescription of opioids such as OxyContin and benzodiazepines such as Alprazolam is remarkably consistent. It is hard to know whether the increase in the prescription of these drugs relates to an increase in non-malignant pain disorders in society or an increased willingness by doctors to prescribe opioids for existing conditions.

GPs have an immense role in primary care of patients.

In the clinical setting, doctors do prescribe potentially abusable drugs for therapeutic effects for chronic pain related conditions. These drugs can be mood altering, analgesic and give euphoric effects, and are highly addictive. All patients on long term opioids become physically dependent and get withdrawal symptoms, but when the withdrawal symptoms include behavioural problems this is addiction.

Abusers of pain medication often target new, overseas trained and female doctors but are a challenge to all GPs with their persuasive stories, urgent requests and occasionally aggressive and threatening manner.

In a recent Medical Board of NSW decision where a practitioner was deregistered as the result of inappropriate prescribing matters, the Board said:

“Overall, the flavour of the respondent’s evidence was that he was a slave to the patient’s request for drugs, he could counsel and advise them to reduce but in the end submitted to their demands. The Tribunal finds this demonstrates both a lack of insight but also a failure to exercise his responsibilities as a medical practitioner.”

Unfortunately, there are inadequate prescription monitoring mechanisms in Australia such as to allow real-time prescription monitoring across the state and country. There is a concerted push in most states of Australia for such a system, but it does not yet exist. The Commonwealth Government has implemented a 24 hour service through the Medicare Prescription Shopping Information Service which allows GPs to search (without the need for patient consent) for their patient to see whether they are a known doctor shopper.

Extreme caution needs to be exercised by GPs in recognising and dealing with patients who have a chronic pain condition and may be overusing or abusing their pain medication.

GPs are guided by the Royal Australian College of Physicians publication, which is endorsed by RACGP – “Prescription Opioid Policy: improving management of chronic non-malignant pain and prevention of problems associated with prescription opioid use – Sydney 2009”

GPs need to better recognise and deal with patients who have chronic pain conditions but who may be overusing or misusing their pain medication, identify risk factors such as past or present substance abuse and psychiatric illness, personality disorders that affect their response to pain, and those who exhibit behavioural difficulties. In some instances it may be best to manage a patient in a multidisciplinary way involving GP, pain specialist and psychiatrist.

Some strategies recommended under the policy are as follows:

  • Develop standing clinical policies on the prescription of drugs of addiction and stick to them
  • Engage the patient in a treatment programme
  • Say ‘no’ to the requested prescription if there is reason to believe the drugs are being abused or misused
  • See the patient more frequently so as to avoid the large one-off consumption
  • Arrange for the pharmacy to dispense smaller quantities more frequently
  • Request urine tests
  • Adopt a multidisciplinary approach
  • Switch to a methadone or buprenorphine programme if signs appear of ongoing drug abuse

The Law Office of Conrad Curry has had a number of cases involving GPs and the overdose and subsequent death of people from pain medication who have had chronic non-malignant pain conditions. The area is complex and challenging but the GPs duty is high. If you would like to discuss this article or a potential case in this field please feel free to contact our office to make an obligation free appointment.

 

References: Article: The Herald 9/8/18