My name is Robert Glenn, and you may be wondering why I have even created this lecture and website.

Well, I know why… and you will soon know…, but do I have anything to say which might benefit you, as a parent or for those who are general advocates of those with rare disorders?

Prioritizing issues is helpful when faced with a chaotic situation. One in which you seemingly have nowhere to turn. It’s hard; make a wrong decision and you may even face a fatal consequence. Take heart though there is hope, and hope is central to this entire conversation. I and my family are not unique because there are families around the globe living with similar challenges.

I have no collegian training in any medical field; however, I was initially trained as an educator.  After a few years teaching, life happened as it does, and I ended up spending the bulk of my working career in a ground position for a major airline.

I am married; have two children; and to date have completed writing four published works, working on a fifth, as well as a lecture series.  So, once again, why have I documented this material?

Well to go to the quick of it; I am here for you.  I am here to encourage parents living with children who have a rare disorder and all those desiring to help struggling families. The information I will be sharing with you comes from thirty-six years of experience with an extremely rare disorder called Double Cortex. Yes, our child has not one but two Cortexes slightly separated by a small amount of white brain matter.

This disorder is part of a larger rare disorder called Lissencephaly which is translated as Smooth Brain. Double Cortex effects only one person out of thirty-nine million individuals. Using the term “rare” is an understatement.

My desire to share with you comes from not only our journey with our daughter Joy, but also for all those living with any rare disorder (especially those with rare neurological disorders). The scope of my thoughts will become more apparent as you read on.

My remarks today deal in part with ethics and will attempt to instill a peace of mind for special needs families.  I am here as a patient’s advocate.  I am here to perhaps refocus your thoughts away from a cure and more onto “quality of life”. Both concepts are equally beneficial to the overall well-being of an individual with a rare disorder.

Perhaps this is the best spot for me to pull out my “Merriam-Webster dictionary”. My notes today may be more clearly understood when examined through the lens of this one word – ethics. By definition, ethics is a discipline dealing with right and wrong, and with moral duty. Let’s keep this in mind as we continue on. You see, for these individuals, there may be no cure, so “quality of life” should become a focal point.

The information presented today is fact, not theory.

And because the factual evidence gathered was compiled from the experiences of one person, you may argue; okay it is factual for one individual, why should I take any special note or regard? The answer to this question isn’t a complicated one. You see, if an improved quality of life is achievable for even one individual, it opens a door to the possibility that someone else may also benefit.

The essence of a medical education is in itself designed to minimize failures. However, there will be those individuals which the medical community will not be able to help by applying conventional treatment protocol. I don’t know if there is a more difficult topic to engage in, but we must place all scenarios on the table if we are to live a full and productive life.

Look at the bright side, medical training does allow a professional to help almost every person who comes through their office door.  That is great and encouraging news.  Those are the scenarios doctors must focus on for the sake of their own health and well-being.

Here is one scenario we are all familiar with, cancer. A cancer may be extremely difficult to manage.  Is it in the early-stages or advanced? Is it an aggressive form of cancer? There are many factors to evaluate and as a result, the patient may experience complete remission, a measure of control, or no control at all; however, there are many options to choose from.

This is possible because there are FDA treatment procedures and CDC recommendations available to follow, which do address most stages of Cancer treatment care. Litigation will generally be on a back burner. Professionals have a number of tracks they might pursue to maximize the patient’s quality of life. For cancer as well as most conditions commonly known to man, professionals may pursue a range of plans, depending on the patient’s overall health status.  They will be free to uphold their personal comfort level with regards to treating patients, and in doing “no harm”.

But, on the other hand, there is that one percent of the population who have incurable, overly complicated conditions.  What about them?  How can the medical community better help them?  How should quality of life be addressed?  Or given some restrictions, will it even be allowed?  I am considering for a moment, the reality of litigation. You see, professionals are not able to freely treat a patient through extravagant experimentation. Doctors are able to use deductive reasoning.  They are able to delve into countless research projects to help connect the dots between a patient’s symptoms and a viable treatment plan.

Yes, unfortunately litigation is out there, and it has the potential to destroy a thriving career and the professionals’ quality of life.  But enough about litigation, let’s move ahead concerning the more important topic at hand.

My thoughts today go beyond the common scenarios just alluded to and on to those individuals for which there is no FDA treatment plan available. My passion is to help those individuals who live with a rare disorder. Our firstborn is one of these individuals; as I mentioned earlier, she is living with a rare genetic brain anomaly. I am here to introduce you to a very unique, complicated, loving, and needy group of people of which you will meet.

Granted, my comments will center on our daughter’s journey, but the intended message is to highlight all those with severe neurological disorders and thus, I will begin here with my closing thoughts (oddly enough), so you might begin now to see these special individuals in a new light.

The closing thoughts are as follows: “Medication Plans for those with a Rare Disorder should only be guided by FDA and CDC recommended plans, not ‘locked’ into them. These disorders are, for the most part, rarely seen, understudied, and therefore maybe misunderstood”. All the fourth-coming information is my attempt to validate this conclusion.

If you haven’t looked up the term “Rare Disorder” recently, let me share some of the facts with you now. According to NORD (the National Organization for Rare Disorders), there are about 7,000 rare disorders identified. To qualify as a Rare Disorder, a condition must only affect 200,000 individuals or less on a global scale (and please take note, there are conditions which affect a far fewer number of individuals than 200,000). With this in mind, do the math: When we are considering about 7,000 disorders, we are speaking about a considerable group of individuals. We should also be aware that less than ten percent of these disorders (less than ten percent) have an FDA approved treatment plan in place.

In order for a treatment plan to be approved, there first needs to be research groups (test groups) to help us derive plausible treatment plans.  It is my understanding that most research projects are conducted in part with test group volunteers and focus either on new or improved potential treatment plans aimed at helping as many individuals as possible.  When approved by the FDA, these new treatment plans are made available for all practicing professionals to apply for their patients’ benefit.

It makes sense that those conditions affecting the largest groups in the population will be researched first.  I totally understand.  But the long and short of it is, by the time one gets down to those conditions classified as rare disorders, the funding or even the general medical interest may not simply be there.

So, how is a professional to proceed?

They will be practicing professionals and not researchers.  What will their approach be?  Individuals with rare disorders are being treated.  So, how are they being treated?  What is the approved protocol accepted by the medical community which provides professionals the comfort to treat an individual with a rare disorder?

To answer that question, I must state the following thoughts are merely my own. In talking with numbers of individuals and reading published medical commentaries, I am confident the following observation of our healthcare structure is indeed the common practice.  And it is as follows: “When there is no FDA recommended treatment plan addressing a main diagnosis, a professional is to follow an FDA recommended treatment plan for the secondary diagnosis for which the patient has been referred to a specialist’s office”.  By following FDA guidelines, one is able to treat any individual with peace of mind.

However, in reality, my next question is: “Is it (the treatment plan) the most beneficial plan for an individual with a rare disorder?”  This is a very complicated question.  As a writer and a special-needs father, I have been asking that last question for years. I am always asking: “Why, why is this happening? Why did we get the treatment results we are experiencing?  Why doesn’t our daughter ever feel better? Why?”

Well, today those questions will only be partially answered. I am going to set up the foundation (the groundwork) to better understand the reality many individuals who live with a rare disorder may be experiencing on a daily basis. To help setup this foundation, let’s take a little closer look at FDA recommended treatment programs. Top professionals study the results from completed research studies and thereby approve treatment plans for doctors to follow. These approved plans are designed to provide maximum success for the greatest numbers of affected individuals.

I believe participants are mostly healthy normal individuals who struggle with the issue being studied or have a genetic family connection.  Treatment plans are mainly designed to restore a healthy individual who is experiencing a medical challenge, back to their normal healthy condition. Isn’t a “healthy condition” the benchmark for healthcare?

With that said, I surmise treatment plans tend to isolate issues.  We treat cancers, a whole variety of blood disorders, heart related issues, neurological disorders, skeletal issues, and the list goes on.  Depending on the number and severity of an individual’s issues, we tend to detach one disorder from another.  Why, because they collectively may over-complicate the diagnosis a specialist may be addressing.  Oh, a person with two or even three diagnoses can be managed.  But what about a diagnosis you have never seen or even heard of before?

How many of you reading this article have knowledge concerning a condition called “Lissencephaly” (smooth brain)? Well, if you have, I suspect it might be from something you have read from a search-engine entry.  Lissencephaly is our daughter’s main diagnosis.  When we go to a new neurologists’ office, it is so obvious to me now that the doctor Googled Lissencephaly to confidently report he or she is familiar with the condition. Really? Somehow such statements no longer provide me with any personal comfort.

I would rather hear a doctor honestly say they have never seen a client with this disorder before and ask the patient and parents to share what we have learned, so that we may better work together as a team.  Honestly, that has never happened for us.  One overly confident neurologist even had the chutzpah to reply she sees such patients on a fairly regular basis.

Well, that will probably never happen!  For our daughter’s unique diagnosis, there are only about 200 individuals identified, globally (200).  For a number of reasons, our daughter, Joy, has had about seven or eight neurologists over the years, and none have been able to improve her quality of life through any medication regimen.

For seventeen years she had an average of one to two dozen seizures per day; and there was even a 2 ½ year period, prior to that, in which she had eighty strong seizures a day.

Think about this for a moment.  What would most professionals think if a client came into their office with a past seizure record similar to this? Obviously, a genetic anomaly has no cure.  Quality of Life has always been our main goal, second only to keeping her alive.

It is generally understood that different people react differently to medication treatments.  One unknown factor may be addressed with the following question – “To what extent does a rare disorder exacerbate or complicate a medication’s intended benefit?” This is an interesting question and it may take a considerable amount of time to unravel, time which many doctors simply may not have.

Say you go to a specialist for Epilepsy; there are well established treatment plans for controlling seizures, so your loved-one is inserted into a plan. Constant monitoring is given to optimize a successful outcome. You’re proceeding with the doctor’s recommended treatment plan, but it isn’t working and no options for an alternative treatment plan are even suggested. What do you do?

This is a worst-case scenario.  What would you do?

I hope the answer for a professional will not be – “Nothing, I will simply follow protocol; what else could I do?” I hope the response will be – “Why?  How has the patient come to this poor state of health? Is there something about this condition I am not aware of?”  Or “Is there anywhere I can turn to learn more?”

There are a number of things a doctor may do, and I feel one of the most important reasons I am here today is to spark a new and continual dialogue between professionals and the general population concerning viable treatment options.

One of the first steps may be to reach out beyond the patient’s medical chart.  A medical chart is a collection of isolated tests and events which really doesn’t give you a clear picture of a client’s over-all daily medical peaks and valleys.

 Ask the patient and parents if they are able to remember more details.   Inquire about a past study the patient may have been in or any genetic information which might be available.  In short, the doctor should brainstorm with the patient (I should say, if verbal), the parents and other medical colleagues to better understand the patient’s full medical condition. I know what I am suggesting involves time, which doctors maybe short on.  But with the expanding forms of social media formats, including email, forming virtual collaborative teams has become easier.  It is okay to say, “I don’t know; let me take some time and look into this more”.

For all professionals, I am injecting an additional layer of the human element here, not that anyone isn’t acting humane. I’m not implying this at all. What I am simply saying a little sarcastically is for patients with a rare disorder, a higher, more complicated thought process may be needed to derive an effective treatment plan. A “Red Flag” should be raised, if you will; “oh, this client needs more of my time”.

Let me say, for now, that we should not assume people will react one way or another to any treatment plan which has been FDA approved for only one group of individuals.