The Right to Try – Let’s Explore the Good

The Right to Try law was signed by President Trump on 30 May 2018. Whilst there are bad and a just plain ugly sides to the Law, it is appropriate to not forget that there is also a good side to the Law.

For anyone with a rare disease, or a terminal illness, hope is priceless. I remember the film with Queen Latifah that came out some years ago [ref Last Holiday 2006]. In the film Queen Latifah’s character Georgia, is told that she has a terminal illness (a brain tumor). What did she do? She booked an extremely expensive holiday in a 7 star hotel in a beautiful location. Her character was determined to try all the things she had always wanted to do. In the process of doing this, she had a wonderful time, and her life derived hope from all of these wonderful new experiences.

The good thing about the Right to Try Law is that it gives hope to those who often have little to hope for. For someone with a terminal illness, hope can be all that is left to hang onto. When the physician utters the words, “We’re sorry. There is nothing else we can do for you”, hope can be priceless.

Lorna Speid, Ph.D., is President of the Board of Directors of Putting Rare Diseases Patients First!(R) a 501 (c) (3) non profit that seeks to provide actionable information to patients with rare diseases about the clinical trial and drug development process, so that they can be empowered.

The Right to Try – The Good, the Bad, and the Just Plain Ugly

The Right to Try law was signed into law by President Trump on 30 May 2018. It is appropriate that anyone that is terminally ill have the opportunity to take the steps determined by them to be appropriate to extend their lives, or improve their quality of life. However, I have a lot of issues with this law, not least of which is the terminology that is being used.

The term “Right” implies that someone has a right that should not be denied them. For instance, everyone has the right to be treated with dignity and respect. Everyone should have the right to free speech and to live their lives as a free human being. Unfortunately, the use of this type of terminology here creates more problems than it solves.

Does everyone really have the right to try an experimental approach that is not yet approved by the Food and Drug Administration? What does this mean in practice? Can this law ever be implemented? Can companies be forced to grant access to their unapproved drugs? Do lawmakers have a realistic or a naïve view of how the regulatory process and systems work?

In practice, no pharmaceutical or biotechnology company is obligated to provide an experimental drug to anyone, regardless of how sick they are. Most will do so on a compassionate basis, depending on the stage of development. However, they will first take into account the risks to the patient, to the drug, and to the company, before granting access. For example, the medical officer overseeing a Phase 3 program for a drug close to securing approval to go onto the market, may determine that it is not in the best interest of the drug or the patients that could receive the marketed drug, to grant access to a dying patient because of the questions that could be raised. On the other hand, the same medical officer could consider the risks to the drug to be low and grant access. In the first case, can the law force the hand of the company to gain access? I very much doubt it.

The death of any patient during a clinical trial, leads to the necessary use of resources to determine why the patient died, and whether or not it could be related to the experimental approach. The death of a patient while taking the drug, prima facie could be considered possibly related to the drug. Any death during a clinical trial puts the program at risk, and could result in the treatment being placed on clinical hold.

Johnson & Johnson have set up an ethics process for the consideration of requests for medicines under compassionate use. The committee that considers the requests for access are a step removed from the executives in the company. They will consider the individual cases and then make recommendations which are provided to the company. If the company endorses the decisions, the patient may or may not receive the drug. However, the consideration of the case by a representative group should provide confidence in the decision even if it is that the drug should not be provided.

Can the Right to Try law require that a company grant access to their experimental drug? We will have to see the extent of this law, if cases are brought to court.


Lorna Speid, Ph.D. is the author of the Book Clinical Trials: What Patients and Healthy Volunteers Need to Know, published by Oxford University Press in 2010.  She is also President of Putting Rare Diseases Patients First!(R).


Autism Spectrum Disorder – The Future

Autism Spectrum Disorder is one of the most challenging rare disease disorders to develop new treatments for.  Nevertheless, it is good news that the disorder is garnering a lot of attention from the pharmaceutical industry.

When many people think of autism they think of some characteristic behaviors that have been made popular by films, etc.  The truth is that autism is a spectrum disorder. There are people that have autism that would by most standards appear to not in any way be impacted. There are others that are severely disabled by the disorder.

Most people would agree that interventions must be behavioral and cognitive as a first line. However, there are times when the introduction of a medicine or a combination of medicines may be necessary in addition to behavioral and cognitive therapy. The medicines that would be used to treat patients with autism will vary depending on the symptoms experienced by the patient.

Patients with autism can show the following symptoms:

-Repetitive Behaviors

– Irritability

– Anxiety

– Depression

-Gastrointestinal symptoms



-Learning difficulties

  • and many other symptoms

When developing new treatments for this disorder, the pharmaceutical industry must try to address the underlying causes of the disorder. There are many organizations seeking to understand the disease, yet there is still so much that we do not know.  Researchers are currently noticing symptoms and associating them with the areas of commonality between autism patients. We have to take care with this approach because association does not indicate causation.

Autism Speaks is a non profit that is providing support to families and patients with autism. The report:

Autism and Health: A Special Report by Autism Speaks, Autism Speaks, 2017, is well worth reading for anyone involved in this field or impacted by the disorder.

Why are treatments for autism so difficult to develop? Why have the studies that have been conducted by companies like Seaside Therapeutics tended to fail to show a compelling effect on the disorder?  How can we move closer to our goal of helping patients and families where the severe forms of the disorder can be so devastating?  Keep reading this Blog to find out more about what is being done, and what can be done.

The Charlie Gard Case – Lessons to be Learnt


For those of you that have not been following the case of Charlie Gard, Charlie was a baby, who was born with a very rare disease. The rare disease came to light about four weeks after his birth because he was not thriving. He was diagnosed with Mitochondrial DNA Depletion Syndrome.  His condition was so rare that there have only been about 16 other cases.

He remained at Great Ormond Street from about 4 weeks of age, until shortly before his death in a hospice.  The Hospital refused to allow him to be transferred to the US for an experimental approach being developed by an expert physician scientist called Dr. Hirano in NY.

The hospital refused to allow Charlie to be transferred to the US despite the raising of the needed money to allow this transfer. Then ensued a long court battle over who should have the final say over what would happen to Charlie Gard, the Hospital (i.e. the authorities), or his parents.  The case went to local and high courts.

The parents were supported by highly qualified lawyers, called Queen’s Counsels (QCs). These were pitted against the Queen’s Counsels hired by the hospital. After a long and grueling court battle going all the way to the UK Supreme Court and the European Court of Justice, the parents were refused their request to be allowed to take Charlie to the US to be given the experimental drug developed by Dr. Hirano.  Why?  Because the hospital were adamant that it would not help Charlie.

Eventually, at the end of the line, Dr. Hirano flew to the hospital and examined Charlie.  By this time many months had passed, and it was determined even by Dr. Hirano that the window of opportunity had passed to help Charlie. Then followed a relatively protracted court procedure to determine where Charlie should die – in the hospital or at home. The hospital would not allow him to go home because they stated that he needed intensive care support. When intensive care nurses and doctors offered to provide support, the hospital argued that the ventilator could not fit through the door of the home.

The final decision was that he could be taken to a hospice and the life support would be turned off there shortly after he arrived. Even here, the parents’ desire to spend a few days with him,  before the life support would be withdrawn, was not granted.   He died today 28th July, in a hospice shortly after he was transported there by the Great Ormond Street Hospital.  His parents were not granted their wish of being able to spend some time with him on life support, saying Good Bye.

Lessons to be Learnt

The Great Ormond Street Hospital argued that there are many lessons to be learnt from the Charlie Gard case. Apparently, the hospital plans to learn these lessons.  What are the lessons that the hospital could learn?  What can other hospitals learn from this case?

  1. This case has been a public relations disaster for Great Ormond Street Hospital. This case made the hospital appear uncaring, cold, and distant. It even appeared out of touch with the latest research ongoing in other parts of the world into rare diseases. Clearly there are no winners from this case (except perhaps the lawyers).  Time will tell what damage has been done to the reputation of this British Institution.
  2. The parents should never have been forced to take legal action to exert their rights as parents.  Surely a way could have been found to work with Dr. Hirano at the earliest opportunity to allow the administration of the experimental approach?  Clinical trials of experimental medicines take place all the time, and to dismiss what appeared to be the only chance for this child raises questions. Dr. Hirano apparently even offered to provide the experimental approach with instructions. Transporting Charlie to the US would have been challenging, and probably unnecessary, but finding a way to administer the experimental approach in the UK, could have, and should have been found.
  3. It is wrong for any hospital to use its vast resources, some of which are donated by well-wishers, to obstruct the will of well meaning and intelligent parents. When the parents are caring, intelligent and functional, it is inappropriate for the hospital caring for their very sick child to put unnecessary obstacles in their way, every step of the way, even at the very end, refusing their wish to spend time with their dying child.
  4. Insisting that Charlie die in the way that the hospital mandated was cruel.     He was not an animal that was being put down. He had two loving parents, and simply withdrawing his life support without the opportunity for his parents to tell him how much they loved him was unwarranted.  Quite frankly, we treat animals that are being put down better than this.
  5. It would not have been a sign of weakness for the hospital to acknowledge that the hospital did not have all the expertise necessary to treat this child that had an extremely rare disease.  They should have found a way to work with Dr. Hirano from the earliest opportunity.
  6. To excoriate the renowned physician in public, is highly unprofessional, and demonstrates the sheer arrogance that has been evident throughout this case on the part of the hospital.
  7. Hiring expensive lawyers to fight against parents, rather than working with the parents to find solutions, is deeply troubling. The legal procedures took the parents away from spending time with their child, at a time when they were most needed by their child.
  8. To release information about the case to build public support (presumably without the parents’ consent) was not appropriate. Ultimately because the hospital had treated Charlie for some months, there was a presumption in the public domain that the hospital must be right in the case.

The Charlie Gard case showed us what can happen to ordinary parents with a child that has a disease for which there is no treatment. Ultimately, after spending huge amounts of time and resources to save their child’s life, their baby was given the sentence of death because the hospital felt that death was better than life with whatever palliative and symptom-alleviating treatment was available.   No amount of tears,  anguish and pleads from the parents could change this decision and stance of the hospital.

The hospital has many lessons to be learnt. In order that the lessons can be learnt, a change of management should immediately take place at the top of the institution. This situation will arise again, and I certainly hope we will not see a repeat of the heartbreaking events of the last few weeks and months.

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.

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!®

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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 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.


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: