If you sense something is not right; say something, do something about it.

No matter what, remain hopeful. Do not give up. If you have done your homework, be open to your doctor’s plan but realize your thoughts are now more grounded in factual information rather than in mere feelings. Each individual will react differently to protocol treatment plans. So, if your child is not responding well to treatment, this may be a good time to ask for a second opinion.

So, for me, I went to the hospital’s administration office and asked for a meeting through their Advocacy Department to seek additional help.  The doctor I saw agreed with me in theory that Joy was a candidate to lower her meds for the sake of her quality of life and offered to personally take Joy’s case (that was something I had not anticipated).  As it turned out, he was the head of the Epilepsy Center.

He also made it quite clear in our first meeting that he would not be responsible for any ill effects from the drug removal.  I do not wish to be mean (honestly), but does this also mean the doctor would not take credit for any success?  Perhaps he felt I was lying to him, or I was simply a naive parent; or he was protecting himself from a legal standpoint.  Everyone needs to speak their peace; it’s an essential element in communication.  I was not surprised or offended by his comment; however, I was disappointed.

At this point, I actually needed to verbalize to the doctor that I have never been against drug treatments, only treatment plans which have been proven not to work.  I could sense from him, he felt I might be someone who simply wished to eliminate drugs at any cost, which is not the case.  I have no idea how many times Joy has been on the same roller coaster with her meds; how many times do we need to see failed results before we know or realize the process being used, doesn’t work?

I had hoped the building of an advocacy team would feel a little better than this.  But then I am not out to make any friends; I am here to save our daughter’s life.

Well, the process of lowering the medications continued and it did have its good moments (which included, for the first time in her life, numbers of days were documented with no seizures recorded at all) and bad moments (including two trips to the ER for strong clusters of seizures). Despite the doctor’s strong convictions to the contrary, I still believe the strong clusters may have been drug withdrawal from the final removal of the drug, Onfi; while the doctor insisted, she was then under-medicated.

Never-the-less, Joy is now on the lowest medication level she has ever been on, and she has regained her ability to eat independently and enjoy food. She is happy, talking, smiling, more cooperative through her daily routine, and we are documenting far fewer seizures. Joy has been at this more stable level for over two years now. In the past, it was not uncommon to see one or two dozen seizures per day/every day (referring to the previous 17 years). In one of our latest monthly reports, only two seizures were recorded for that entire reporting period. We are encouraged most of the months now log less than two dozen seizures. I can’t tell you how much it warms my heart to see our daughter smiling and happy again.

A normal medication protocol for controlling seizure activity is designed to bring a normal brain, which is experiencing seizures, back to a normal stable brain function.  It is not designed for an abnormal brain but is still “the go to” procedure.  After all, isn’t epilepsy just epilepsy?  Ah no, in my book, it’s not necessarily a stand-alone issue for those with rare disorders.

Remember, the definition given earlier that a rare disorder is reserved for those conditions affecting 200,000 or less individuals? 

Well currently the number of individuals treated for Epilepsy in the U.S. is about 3.4 million and globally about 50 million.  Epilepsy is not a condition which falls into the category of a rare disorder.  For me, epilepsy should not be treated as a stand-alone issue for these special individuals.

During the medication reduction process Joy went through, I asked our neurologist how a drug (Onfi-in this case) actually worked to accomplish its goal of seizure control, and he honestly replied that he didn’t know.  That was a question I should ask our Pharmacist.  So, I did.  The Pharmacist turned his computer screen in my direction and typed in: “What is the mechanism for Onfi?”

Mechanism was a new word for me, as were over 50% of the words I saw on the screen.  However, my eyes opened wide when I saw a few familiar words in the paragraph: Onfi as well as the general group of benzodiazepines work through the neurological system or channel.  The very system which is greatly compromised in our daughter.

Perhaps this is why Joy had such difficulty with all the side-effects from the drugs, but no relief from the seizure activity.  There are other families of drugs which work through sodium or calcium channels, which might have been a better alternative treatment plan earlier on.  In retrospect, this question should have been addressed years ago, and is certainly out of a parent’s general thought process.  Who could have known? Could a Double Cortex be blocking physical matter, such as medication, from passing through? I don’t know, so let’s move on.

One additional question I asked our Pharmacist on a separate visit was this: “Is there a way to compare the drugs which are measured in hundreds of milligrams with those relatively newer drugs which are measured one milligram at a time?”  I was expecting an answer like a 10 to 1 ratio or even 25 to one.  But to my disappointment, he said no; to date there is no mathematical formula to mix the two measurement systems of medication into one number, to access how much medication an individual is actually on.  I have double-checked this finding with another pharmacist.

Knowing the total drug level has no direct implications concerning the success of the treatment-plan (it just doesn’t); however, it has great implications if one is trying to minimize a drug’s side-effects. Attempting to control side-effects when using multiple anticonvulsants is in itself, unmanageable. And side-effects may be as devastating to an individual’s daily life as the condition being treated. I have too many stories I might share some day to illustrate this point.

One story, however, I will share here.  One side-effect Joy experienced was motion sickness.  For hygiene reasons we felt Joy needed a bath instead of a sponge-bath. We only put about one inch of water in the tub, but she would scream at the top of her lungs for the entire three minutes it took us to complete a thorough yet short bath. Once we were able to wean her off that particular medication, Joy was again content with bath-time.  Side-effects are a big deal.

So here are some more questions: Why haven’t we lowered Joy’s med-level more than we have? Could she actually have total seizure control? Why is this current process so difficult? How long will Joy even be with us? (Joy is already six years older, than the documented oldest survivor with Lissencephaly, who died at the age of thirty).

Why do many medical professionals cling so closely to protocol? After all, following protocol is simply being obedient. Is it not? Ethics is the mechanism used for problem solving.

We all may deal with allusive dilemmas from time to time. Does it have to boil down to “Patient vs Protocol”? Well, it should not; the answer should lie in a unique intermingling. In this case, a unique team effort which expands the role of the patient and family as well as professionals in other fields of study; thus, being able to better develop an overall treatment plan; a treatment plan addressing a patient’s complete diagnosis.

Even with a team approach, the primary physician’s name will remain at the top of the script, however as a strong team, it should not feel like a lonely position to be in, but rather that of a greater strength.

So far, there have been three events which indicate Joy’s brain may take up to two weeks to respond to a crisis event, in contrast to a normal brains’ reaction of two or three days. This anomaly has been documented in connection with an over-dose, an under-dose (a missed med), and another type of drug related event. I would be happy to share the details with you individually if you are interested.

I do have a few theories which I can’t prove, however they are certainly worthy of mention: I believe Joy’s cognitive level (the transmission of thought waves) is driven by her Double Cortex in conjunction with her Lissencephaly-Smooth Brain issue (which is the lack of Neurotransmitters/receptors) and not the condition of her brain lobes. And then there is also the matter of Joy’s Double Cortex; I feel the thick Double-Cortex also may block physical matter (I.E., medications) from fully passing through the dense Cortex. This would explain why larger doses of medications for Epilepsy yield a low return while Joy seems to still experience all the nonproductive side-effects.

So yes, in one regard, I am a research team of one, with a test group of one.  Therefore, any knowledge obtained from this study does not have the propensity to affect all of the 7.8 billion people on our planet.  It will not affect even millions of individuals.  However, it does have the potential to change thousands of lives, those with compromised Neurological systems.

Precious family members needing understanding will look to our Medical Professionals.

Together we can help these individuals with rare disorders. Not all, but certainly one-at-a-time. I hope a new dialogue will begin today for all of us (Medical Professionals, parents, and advocates); a dialogue even more focused on the needs of those individuals who live with a Rare Disorder.

I don’t believe Joy is an isolated case within the Rare Disorder community. A compromised neurological system as well as epilepsy are both common components in many of the seven-thousand conditions we refer to as “Rare Disorders”. And there is a bottom line here; simply ask if there is an FDA approved treatment plan for the client’s main diagnosis. If the condition is among those 90% plus with no plan, then special care and consideration should be mandated.

The brain is an amazingly wonderful and complicated organ, and we need to continue research, to more clearly understand and help this very special group of individuals.

Our family journey has no end as long as Joy is with us, but we are making progress.  Over the past four years, we have successfully lowered Joy’s medication level about 55%, resulting in the lowering of her documented seizure activity over 90%.  Joy is experiencing a better quality of life than she has had for the past twenty-six years.

It’s sad for me to think that we may have mismanaged Joy’s treatment plan for nearly twenty-six years, but it is still sadder for me to imagine using the original treatment approach, for the remainder of her life.

Let’s start a new conversation, now.

Thank you for listening!