The Value of a Second Opinion

… cannot be underestimated.  In the case of Charlie Gard it could mean the difference between having his life support machine turned off, and being given the chance to receive an experimental approach for his rare disease.

You will note that I deliberately avoid using the term “treatment” because until the experimental approach has proven efficacy (effectiveness) it should not be termed “treatment”.  However, all currently approved treatments have gone through a stage of being considered unproven, and experimental.  I can think of drugs like Gleevec, which were given to patients at death’s door. Some of these patients made remarkable recoveries after receiving the experimental approach.

Why is a second opinion valuable?  Because physicians are humans, and humans make mistakes. Charlie Gard’s parents have understood that it is appropriate to have a certain amount of skepticism when receiving medical diagnoses and prognoses. There are numerous examples of medical prognoses being wrong. Patients have woken out of comas after years of being unconscious. Miracles (unexplainable turn of events) do happen even in our technologically advanced world.

In the US there is a tradition of seeking a second opinion when one does not like or agree with the first one.  I know of a number of cases where the second opinion probably saved lives.    In the UK, this insistence on a second opinion is, in my view, quite unusual. This could be why, Great Ormond Street have fought back. I doubt that their prognoses have been challenged to this extent so publicly before.

While it is important to seek a second opinion, particularly in life and death situations, it can be difficult to obtain an independent second opinion uninfluenced by the first. In a situation such as this, the physician being asked for a second opinion would tend to be swayed by the standing of the physician or institution that gave the first opinion. You can imagine that few pediatric physicians in the UK would be comfortable criticizing or being seen to critique a prognosis  eminent physicians at Great Ormond Street Hospital  Dr. Michio Hirano is the physician that has been tasked with examining Charlie Gard and giving a second opinion.

What characteristics and qualifications are desirable in a physician giving a second opinion?

  1. He or she should be eminently qualified in the disease area on which the opinion is being sought.  TickDr. Hirano is eminently qualified. He specializes in neurological conditions such as Mitochondrial Depletion Syndrome, and is a physician scientist on top of that. He not only treats patients, but is also qualified to conduct research on the causes of diseases and to study new potential treatments. 
  2. He or she should be able to exercise independent thought. Tick – Dr. Hirano held his own under cross examination at the High Court. He was respectful but was not cowed by the high profile nature of the case.
  3. He or she should be able to express this independent thought without apology. TickDr. Hirano expressed the view that he has seen no evidence that Charlie Gard is in pain. By the way, would turning off the life support machine not cause Charlie pain as he is allowed to effectively suffocate?
  4. He or she must be able to examine the patient without being swayed by evidence already presented by the institution that gave the first opinion. Tickthis confidence and independence was evident during the interaction with the Judge and QCs last week.

I believe Charlie has a real chance of being given an independent second opinion by Dr. Hirano. I am pleased that he has managed to remain anonymous until now.   For the sake of this Baby, I hope that he will be allowed to do his job without endless distractions and side stories about him, his practice, his family and his previous patients.

 

A Tale of Two Healthcare Systems …

What do you do when you have a terminally ill child that is very much alive, and clearly deserves a chance to live?  You do every thing in your power to find that help and you fight each day until there is no more hope.

Charlie Gard’s parents are doing just that.  Unfortunately, not only do they have to fight Charlie’s rare disease, but they also have to fight the system which has set itself against them, and is determined to ensure that Charlie’s life support is turned off so that he can die in their words, “with dignity.”

Today, one of the UK newspapers that has been covering the story has raised the ugly question of (social) class in all of this.  I wondered when this subject would be raised, and it is about time. I doubt very much that Charlie’s parents would have been fighting to keep his life support machine from being turned on if they were from the upper echelons of UK society, or if their parents were well connected.

They will go in front of a judge from a very privileged part of UK society tomorrow (Thursday), who will decide if their baby’s life is worth prolonging.     He is from the upper echelons of society. He is well connected. His pronouncements to these two despairing parents have so far been patronizing, and  poor reflection on the legal profession.

I can’t help but think about the Grenfell fire victims. There we had the tale of two housing systems. In the well-to-do housing system, tower blocks are pent houses. They have sprinklers, and everything needed to ensure that there is a low risk of fire. If a fire ever breaks out in the penthouse, the inhabitants are able to escape with their lives.

On the other hand, if one is poor and lives in a tower block, your housing block is likely to be decoratively refurbished with material banned by every civilized society, including the US and Germany, because it spreads fire.  Sprinklers will have been omitted in the construction because of the expense. The clincher is that while the fire is raging you will be told to stay in your apartment  The death toll is likely to be in the hundreds, but may never be known.

Why are Charlie Gard’s parents having to fight to keep him alive? Simply because they do not come from that well-heeled part of society that will ensure that the question of his life support being turned off is never even raised.   This is a tale of two healthcare systems.

Charlie Gard – When Parents Are Pushed Aside

I am sure most of  you are watching the sad and truly tragic story of Charlie Gard with interest. I am watching it with disbelief.

For those of you that are unaware of the unfolding story, I will give a little background.

Charlie Gard is a baby. Like all babies, he is adorable. The difference between Charlie and  other babies is that Charlie was born with a rare disease called Mitochondrial DNA Depletion Syndrome.

Charlie is on life support at the Great Ormond Street Hospital. There is a fight to remove this life support so that Charlie will be allowed to die.

There is no doubt that Charlie Gard is extremely ill.  What I want to focus on in this case is the extent to which the parents have been sidelined in deciding what should happen to their child.

Let’s consider for a moment where Charlie is being cared for. The Great Ormond Street hospital is as famous and British as Shakespeare, Jane Austen,  etc., etc.

On the Great Ormond Street website, the values of the organization are listed as

• Always be Welcoming
• Always be Helpful
• Always be Expert
• Always be One Team

With values  like these, how on earth, did the Great Ormond Street Hospital find itself in the cross hairs fighting against parents whose only desire is to ensure that their baby receives every chance to live?

The Great Ormond Street Hospital probably receives more charitable donations than any other hospital around the world. There can be no doubt that they have helped many sick children, and will continue to help many sick children, but this great hospital will forever be remembered as the hospital that went to the High Court in the UK  to seek an injunction to remove the life support from Charlie Gard, against the parents wishes.  Who will donate to them now?  I cannot think of a worse PR crisis for this institution.

They have fought the parents every step of the way, even when there was the opportunity for the parents to take Charlie to the US for the an experimental intervention. The hospital refused to allow Charlie to leave their care, claiming that the experimental approach would make no difference to Charlie Gard’s condition. Surely this decision should have been left up to Charlie Gard’s parents and not the hospital.

Now the decision on whether Charlie will live or die will be made by a judge who is not a scientist. He plans to make the decision on whether to turn off Charlie’s life support machine on the basis of facts given to him by others. The heart rending tears and cries of the parents will be disregarded.

How did we get here as a society?

Calling Patients with Rare Diseases/Parents of Children with Rare Diseases

We at Putting Rare Diseases Patients First!® are calling all who fall into these categories to take our survey. We are seeking to hear from those with rare diseases so that we can serve them better and marshal the support needed.

If you fall into either of these two categories, or if you are a rare disease patient advocate, we would like you to take our carefully constructed Survey by clicking on the following Link, or copying the link into a new browser.

https://www.surveymonkey.com/r/XP6P5C6

If you are an advocate, the survey will simply ask for your contact information so that we can keep in touch. If you are a patient with a rare disease, or a parent of a child with a rare disease, ensure you tick these options so that you can be taken to the rest of the survey.

We need to test or pilot the survey to 100 patients/parents/advocates as quickly as possible. After this initial pilot the survey will be sent to 1000 patients/parents/advocates using social media, and email. We will then analyze the results and publish our findings.

Why are we conducting this survey? We plan to use the current focus on healthcare to bring appropriate attention to the needs of patients with rare diseases. If you are involved in the rare disease space, I hope you will want to get involved in this initiative. The survey takes about 15 minutes max to complete.

Do visit us on Facebook and visit us on our social media sites shown below.

Lorna Speid, Ph.D.

Founder and President of the Board

Putting Rare Diseases Patients First!®

PRDPF! Website: www.puttingrarediseasespatientsfirst.org

PRDPF! Facebook page: https://www.facebook.com/PuttingRareDiseasesPatientsFirst

PRDPF! Twitter: https://www.twitter.com/PuttingRDPF

Join our Linkedin Group: https://www.linkedin.com/groups/7053055

PRDPF! Blog: https://rarediseases123.wordpress.com/

Support PRDPF! by shopping at Smile.Amazon.com https://smile.amazon.com/ch/32-0430223

Patient Engagement – Making it More than a Buzz Word…

sThis is probably the greatest time to be alive, if you are a patient with a rare disease. Why? Not only are there more diagnostic tools and more advances being discovered every day, but you also have the opportunity to become involved in finding solutions and new treatments.

If you are a patient with a rare disease, or a parent with a child that has a rare disease, you may or may not be aware that pharmaceutical companies, biotechnology companies, and major regulatory authorities are seeking to engage you in the drug development process.  If you would like to be involved in the process of finding new treatments for your disease, how should you go about involving yourself?  Your first point of call should be the organization that represents your patient group. In reality, there may be several such organizations. If the patient groups are not interested in engaging with the pharmaceutical industry and regulatory authorities, the next step would be to organize a group of patients that feel the same way that you do. This may involve forming a  non profit or charity, but not necessarily. You may organize yourselves as a patient support group. This may simply involve setting up a Facebook support group.

When you are reasonably clear on your goals and objectives, obtain information about the drug development process. At Putting Rare Diseases Patients First!® our goal is to provide you with the information that you need so that you can engage effectively with pharma/biotech/regulatory authorities. Sign up to receive information about Webinars etc. at http://www.prdpf.org. Your contact information is kept in the strictest confidence, and is never shared.

When you feel reasonably well informed, the next step will be to contact the companies that are engaged in developing treatments for your disease, and the regulatory authority in your region.  Ensure that they are aware of  your group, and your interest in being a part of the dialogue to find solutions for patients with your rare disease.

You will be able to make a contribution in many areas, including the following:

  1. Setting up Patient Registries
  2. Design and conduct of Natural History Studies.
  3. Identifying the needs of patients
  4. Designing the ideal treatment for the disease.

The pharmaceutical industry and regulatory authorities should welcome your interest and contact. Unfortunately, individual companies are not the easiest places to contact. When you call the companies, unless you have identified a named individual, you will not be transferred to anyone. Why?  There are concerns around confidentiality and security.

Becoming more patient friendly is going to be crucial if companies are going to be successful in engaging with patients.  One way to move past the gatekeeper, may be to ask for the medical information department. Hopefully, the company  medical information department will then be able to pass on your details to the person responsible for patient engagement.

In the Pharmcast podcast (see below), Dr. Speid speaks to pharmaceutical companies about how they can better engage with patients with rare diseases to find new treatments. Click on the following link to go to the podcast. Do spread the word among your patients, family members, and colleagues.

http://blog.yourencore.com/patient-advocacy-putting-rare-diseases-first-pharmcast-ep-10

 

Lorna Speid, Ph.D.

President and Founder of Putting Rare Diseases Patients First!®

Natural History Studies and Your Rare Disease Child

Approximately 50% of rare diseases occur in children. A rare disease may present differently in different children at different ages. The same disease in a 5 year old, may look different in that same child at 10 years old. This is why Natural History Studies are so important.

Natural History Studies enable us to understand the course of a rare disease. For instance, how does it present itself at the outset? What symptoms do patients complain about? What happens to the patient after two years of living with the disease? What happens after five years of living with the disease? Does the disease become worse, or even out in terms of the symptoms?

Many patients with rare diseases suffer for a long time without receiving an accurate diagnosis.  One of the reasons for this is that the course of the disease is not well documented. As a result, the ability to accurately diagnose the disease in relation to the presentation of the disease is poor. This is especially troubling in children. Without an accurate diagnosis, it would not be possible to alleviate the child’s suffering. It would also not be possible to understand the prognosis, and what interventions might be appropriate to slow down the progression of the disease. It would be unethical to give a drug to a child if it would not help them. In this situation, the risks would outweigh the potential for benefit.

Conducting natural history studies in children presents some challenges. There are ethical challenges as well as practical challenges. Within the different age groups of childhood, there are different challenges. A baby is a very different research subject to a teenager. A teenager has to a certain extent learned to think for themselves, although some parents would debate that. They can generally provide feedback about levels of pain, and discomfort during bouts of illness. A baby cannot provide input except by e.g. crying, laughing and other forms of expression that have to be interpreted by a parent, nurse, doctor or carer.

While seeking to understand the natural course of a disease, we have to ensure that we are not denying someone treatment that is already available. This would be unethical. At the same time, we do not want to be studying the course of a disease that has effectively been modified and that does not really reflect the true course of the disease because pharmacological methods are being used to modify it.

How should Natural History studies be designed for children?

  1. They should be designed in such a way that they are not placing stress on the child. We do not want the child to dread the visit to the doctor’s office for the evaluation. That would place an undue level of stress on the child, as well as the parent.
  2. They should not require that the child be denied effective treatment that is currently available. This presents the challenge that any treatments may alter the course of the disease and therefore bias the natural history study.
  3. They should take into account the child’s normal day to day activities. The natural history study should avoid interfering with fun activities that the child wants to take part in. Nursing services that can visit the child in the home to take measurements are invaluable because they can work around the child’s schedule.
  4. Technology should be used where possible to take measurements. Using Apps to collect data from the child directly would be invaluable. For instance, very small children are very tech savvy. They can respond to questions about how they feel on a scale of 1 to 5, especially if pictorial representations and games are incorporated into the App.
  5. A natural history study must be practical. A design that is so onerous that it cannot be conducted is a waste of everyone’s time.
  6. Standardization of data from one natural history study in the same disease to another, would increase the usefulness of the natural history study, and avoid the need to duplicate efforts.
  7. Funding is a tremendous challenge for patient organizations that are interested in setting up natural history studies.
    1. Pharma and biotech companies should find ways to strategically provide small amounts of funding to ensure natural history studies are being conducted in all the 7000 rare diseases that exist.
Putting Rare Diseases Patients First! will be running a free Webinar on 25th February at 8 am PST. The title is Natural History Studies and Your Rare Disease Child. If you have a rare disease or have a child with a rare disease, please feel free to register by clicking onto the following link:

 

 

Patients Speaking for Patients

The Webinars run by Putting Rare Diseases Patients First! are designed for patients with rare diseases, and the parents of children with rare diseases.  We are often asked why we have designed content for this audience and not those who represent them.

We do receive many requests from advocates and professionals who work with rare disease patients.  They have often read the descriptions of the planned Webinars, and want to attend because they recognize the value of what will be presented.  So  why does PRDPF! design these Webinars for patients and the parents?

One important reason is that there are other organizations that develop information for professional advocates, and those who represent patients. We presume these organizations have taken the time to design the content appropriately for this professional audience. We have no desire to duplicate their efforts.

We have chosen to develop the content for patients and parents because there is very little available to them that addresses their needs, especially in relation to  issues of drug development and clinical trials, in an informed way. There are many professional conferences that seek to address the topic of patient engagement. The only problem with many of these conferences, is that they are very expensive, and therefore “the patient” is generally not present to voice his or her concerns.  Additionally, a lot of the content presented at these conferences is policy based, philosophical, or theoretical. In other words, it is not very useful to the real patient living in the trenches with their rare disease.

Who speaks for “the patient”?   We feel that the patient should speak for the patient. Who knows better the drug development needs, than the patient? Why filter the information by first providing it to a professional who will then determine how much of what was gleaned should be provided to the patient?

Patients and parents often voice concerns, urgency and ideas that would be missed if they were in a professional setting. By allowing them to speak, we have found that they are very creative in relation to the regulatory and drug development approaches that we often take for granted. From running the Webinars we have also discovered that patients/parents can decide for themselves what they want to follow up on and what is not of importance to them.  They are clearly best placed to speak about the issues that concern them.

Lorna Speid, Ph.D.

Lorna is the author of Clinical Trials: What Patients and Healthy Volunteers Need to Know, published by Oxford University Press.

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Putting Rare Diseases Patients First! Board of Directors

Lorna Speid, Ph.D., is the Founder and President of Putting Rare Diseases Patients First!  She is joined on the Board of Directors by Patricia Ortiz, and John Gilbert.

Patricia Ortiz – VP of Patient Liaison

Patricia is a Biomedical Engineer with a strong background in Medical Device Development, Diagnostic Instrument Development,  and Clinical Site Management. Patricia is an important addition to the Board because she has a rare disease, and is active in LAM, the patient organization for her disease. Patricia is the VP of Patient Liaison.

John Gilbert – VP of Public Relations, Marketing and Social Media

John is a commercial business executive for a pharmaceutical company. He has a deep background in life science commercialization. He is also an expert in public relations and social media. He is The VP of Public Relations, Marketing and Social Media.

Lorna Speid, Ph.D., President and Founder

Lorna is a Clinical Pharmacist, and is registered in the Royal Pharmaceutical Society of Great Britain. She has worked in the pharmaceutical industry, developing and obtaining approvals of new medicines since the early 1990s. in 2014 she set up a 501(c) (3) non–profit, Putting Rare Diseases Patients First! in January 2014 to educate patients with rare diseases about the clinical trial and drug development processes. Lorna has a special interest in developing new treatments for rare diseases, and in empowering patients with rare diseases, and parents of children with rare diseases.