Raising Kids With CMT-Where In The Heck Is the Manual?

Last week, I purchased a top-of-the-line 4K LED Smart TV with enough options to bedazzle even the most technologically gifted.  Some of the features were intuitive enough that I proudly disregarded the instruction manual altogether.  To my dismay, I soon discovered that a good number of even the simplest functions were complicated, puzzling and downright impossible to comprehend even with the handy user’s manual.

smart TV                                                           New Toy – LED TV

 

Realizing my dependence on this pamphlet of how-tos, I reflected upon all the parenting guides I have purchased over the years, all dealing with every different aspect of the child imaginable: the terrible twos, sleeplessness, anxiety, positive discipline, the emotional lives of boys, tolerating teens, etc  The one book I have yet to come across is called the “THE MANUAL: Raising Kids With An Unexpected Diagnosis (Like CMT, a Progressive Nerve Disease).”

 

Parenting-troubleshooting

 

My instruction booklet was not included in my take-home packet from the hospital when Yohan was born 25 years ago, and I still fantasize about getting my hands on a copy of this yet non-existent source of knowledge.

Initially, I learned to care for my bundle of joy by asking questions, reading a selective few of those parenting books I mentioned above, taking advice from others (even if unsolicited) and relied heavily on my own maternal instincts. Through trial and error, my husband and I, as do most parents, strove to raise and nurture our child to be a resilient human being, who would hopefully be happy, successful, compassionate, friendly, confident, etc….. None of these attributes are ever guaranteed, but parents can and do influence their children to a very large degree by modeling behaviors and values, including empathic listening, acceptance of the whole child, unconditional love, acceptance and positive discipline.

Born with unique dispositions and temperaments, every child will integrate what he or she witnesses, observes and experiences to form a personality, which is in a state of constant flux, molding to and shaped by the surrounding environment. Raising children is truly a humbling adventure, where perfecting parental skills comes through valiant efforts on the part of the father and/or mother to do the best they can at any given moment.

And just to keep us on our toes, life has this nasty habit of throwing wrenches into our well thought-out and admirable plans and dreams, forcing us to change directions or reroute our individual and family’s journey throughout life over and over again.

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For instance, when parents are told that their apparently healthy and precious child has a progressive neurological disease called CMT, (or any other chronic illness or disability) the world as they knew it comes to an abrupt halt. For a while, time just seems to stop as the shock of reality works its way through to the senses. With no current treatment or cure, CMT is a group of diseases whose effects vary greatly from one person to the next, even among members of the same family. The fear of an uncertain future for our beloved child creates a chaos so disruptive, parents may inevitably experience and re-experience a whole gamut of different feelings anywhere from grief, rage, disbelief, depression, anxiety, sadness, hopelessness, to guilt and disappointment. This flurry of unyielding and varied sets of emotions is unequivocally normal and expected in the face of such devastating and unwelcome news.

 

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Stages of Grief

 

We immediately wonder what this diagnosis means for our child’s future – will she be able to play the piano, have children and fulfill her dreams as an actress? Will his legs remain strong, what about his basketball career, and just how much will my son be affected?  Will he/she become more or less disabled than me, than my mother, than other family members? As concerned parents, we all have a tendency to get ahead of ourselves by asking a million questions about the fate of our children by continuously wondering and inquiring about what the future has in store, trying to predict what cannot be foreseen.

To top it off, in the midst of this traumatic news, unsettled parents must return home to their children, bearing the intolerable news that will inevitably change the lives of every single member of that particular family. How hard it is to remain calm, in control and at ease after you’ve been hit with the CMT hammer! In these delicate situations, let’s not forget that children are savvy readers of parental anxiety, tension, and stress. They are inexorably influenced by our attitudes, opinions, and expressions as they learn a great deal about themselves by watching, listening and absorbing all the subtle messages left behind in conversations to be had both in public and in private. They definitely do not wish to see us devastated by their disease (even if we are) and need most of all to be comforted, supported and understood.

So, when a parent unintentionally acts out his or her intense sadness, despair and anxiety in front of their children, the child is sure to take it all in, every bit of it. If our children receive messages confirming that their own situation is hopeless and the future bleak, he or she will surely feel out of control and helpless in the face of upcoming and ongoing adversity.  However, if our kids are met with reassurance and optimism, they will be more likely to cope adequately, if not conquer the intermittent hurdles that are bound to appear throughout their lives. So, the quicker we as parents learn to “deal effectively” with the challenges presented by CMT, the quicker our children will build the necessary coping skills and resilience to live well despite this disease.

Let me qualify the expression “dealing effectively with CMT” as an extremely subjective experience, which takes on a different meaning for each and every one of us. Coming to terms with your child’s progressive disease and limitations takes a lot of time and energy, and as you already know, this does not happen overnight, if ever at all.

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There are still moments when  I am angry at this disease and obstinately think of Yohan’s CMT to be the ultimate definition of unfair lots in life, followed by a pathetic, “Why me?”, “Why him?”, “Why us?” I usually manage to calm down by focusing on what he can do, by living in the present moment and by appreciating the gifts of today. I also fervently practice replacing my negative and catastrophic thoughts with a more positive and realistic perspective which encompasses a broader, less self-centered approach to challenging situations.

The brutal reality is that I cannot control his disease or make it go away.  However, we as parents are far from powerless and impotent. On the contrary, by sharing an unwavering hope for the future, role modeling coping mechanisms such as humor, optimism, faith while remaining connected to others for support, we are fostering resiliency and courage in our children, traits on which they will rely heavily today, tomorrow and the days to come.

Let me reiterate that as parents, we have the capacity to guide and support our children, despite the absence of that darn manual.  There are always silver linings to all black clouds, you may just have to look for them. Hurdles and stumbling blocks exist to a greater or lesser extent in everyone’s life and many times, these challenges will bring families closer together or even offer a deeper, more meaningful purpose to life itself. Whatever afflicts us or our loved ones and no matter how severely, life is truly what we make of it. By planting the seeds of hope, confidence, and self-assurance, we are offering our children the right to a bright and fruitful future.

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Whether it be CMT or some other uninvited disease, our children will have acquired the tools with which to triumph over whatever may befall them, because YOU, as parents, have given them the means. No one ever said that a parenting is an easy endeavor, but your hard work, time and patience is and will make a marked difference in the minds and lives of your children and the generations to come. Manual or no manual, your kids will be forever grateful, which I deem the best award a parent could ever receive.

 

 

 

Seeking Alternatives to Narcotics: Cannabis

We are in the midst of an opioid overdose epidemic.

As the laws on prescribing narcotics become stricter, the millions of people who suffer from chronic and debilitating pain are left to fend for themselves. Denied access to pain-relieving medication, those with excruciating conditions are suffering, searching for alternative forms of relief.

It is in this light that I asked neuromuscular specialist, Dr. Greg Carter, chief medical officer of St. Luke’s Rehabilitation Institute and clinical professor at Washington State University’s College of Medicine about his research on cannabis as it relates to neuropathic pain in CMT.

 

By Greg Carter, MD

Humans have used cannabis (marijuana) as a safe and useful pain reliever for thousands of years. With appropriate patient screening and physician oversight, it can be used to treat chronic pain, particularly neuropathic pain, which causes people with CMT much grief and suffering.

Originally delta-9-tetrahydrocannabinol (THC) THC was felt to be the main active ingredient in cannabis. However, over the past several decades, other compounds unique to cannabis (“cannabinoids”) were isolated and characterized. Cannabis is now estimated to contain over 100 such compounds, many of which are not psychoactive but have potential medicinal benefits. This includes compounds like cannabidiol (CBD) and cannabinol (CBN).

We now know there is an internal cannabinoid system in our bodies that is intricately involved in the control of movement, pain, memory, mood, motor tone, and appetite, among others. Activation of this internal “endocannabinoid system” is what produces the runners high, among countless other physiological effects.

Overall evidence indicates that cannabinoids are safe and effective if used properly and may relieve pain without serious adverse effects. You do not need to be “high” to get pain relief. Strains that have higher CBD content and lower THC strains are the best. Patients should not smoke cannabis but rather use concentrated tinctures, putting several drops under the tongue. Vaporizers can also be used, which allows for inhalation of active hot mist, without the smoke. For dosing, patients should “start low and go slow.” They can take two or three inhalations, stop, and wait 10 minutes to see what the effects are. Ingestion takes about an hour to get effects so it’s harder to dose but lasts longer. Cannabis is absorbed through the skin and may be used in a liniment for localized pain. Patients should not drive or do anything that requires full cognitive and motor function while medicated with cannabis.

Patients with CMT need to be aware of the laws in their particular state or country. Even in states that allow for medicinal use, there may be laws that require that all standard means of treating pain be tried and failed before cannabis can be offered. Arguably, any decision to offer medicinal cannabis as a treatment option will depend on the severity of the underlying pain condition and the extent to which other approaches have been tried. Patients also need to be aware that the use of cannabis for any reason remains illegal under federal law in the United States.

 

 

Here are a few of his sources, including one of his research papers:

Br J Clin Pharmacol. 2011 Nov

Cannabinoids for treatment of chronic non-cancer pain; a systematic review of randomized trials.

Lynch ME1, Campbell F.

 

Abstract

Effective therapeutic options for patients living with chronic pain are limited. The pain relieving effect of cannabinoids remains unclear. A systematic review of randomized controlled trials (RCTs) examining cannabinoids in the treatment of chronic non-cancer pain was conducted according to the PRISMA statement update on the QUORUM guidelines for reporting systematic reviews that evaluate health care interventions. Cannabinoids studied included smoked cannabis, oromucosal extracts of cannabis based medicine, nabilone, dronabinol and a novel THC analogue. Chronic non-cancer pain conditions included neuropathic pain, fibromyalgia, rheumatoid arthritis, and mixed chronic pain. Overall the quality of trials was excellent. Fifteen of the eighteen trials that met the inclusion criteria demonstrated a significant analgesic effect of cannabinoid as compared with placebo and several reported significant improvements in sleep. There were no serious adverse effects. Adverse effects most commonly reported were generally well tolerated, mild to moderate in severity and led to withdrawal from the studies in only a few cases. Overall there is evidence that cannabinoids are safe and modestly effective in neuropathic pain with preliminary evidence of efficacy in fibromyalgia and rheumatoid arthritis. The context of the need for additional treatments for chronic pain is reviewed. Further large studies of longer duration examining specific cannabinoids in homogeneous populations are required.

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J Neuroimmune Pharmacol. 2015 Jun;10(2):293-301.

Cannabinoids for the Treatment of Chronic Non-Cancer Pain: An Updated Systematic Review of Randomized Controlled Trials.

Lynch ME1, Ware MA.

Author information

1

Departments of Anesthesiology, Pain Medicine and Perioperative Care, Psychiatry and Pharmacology Dalhousie University, Halifax, Nova Scotia, Canada, mary.lynch@dal.ca.

Abstract

An updated systematic review of randomized controlled trials examining cannabinoids in the treatment of chronic non-cancer pain was conducted according to PRISMA guidelines for systematic reviews reporting on health care outcomes. Eleven trials published since our last review met inclusion criteria. The quality of the trials was excellent. Seven of the trials demonstrated a significant analgesic effect. Several trials also demonstrated improvement in secondary outcomes (e.g., sleep, muscle stiffness and spasticity). Adverse effects most frequently reported such as fatigue and dizziness were mild to moderate in severity and generally well tolerated. This review adds further support that currently available cannabinoids are safe, modestly effective analgesics that provide a reasonable therapeutic option in the management of chronic non-cancer pain.

 

Pain Manag. 2015;5(1):13-21. doi: 10.2217/pmt.14.49.

Re-branding cannabis: the next generation of chronic pain medicine?

Carter GT1, Javaher SP, Nguyen MH, Garret S, Carlini BH.

St Luke’s Rehabilitation Institute, Spokane, WA 99202, USA.

Abstract

The field of pain medicine is at a crossroads given the epidemic of addiction and overdose deaths from prescription opioids. Cannabis and its active ingredients, cannabinoids, are a much safer therapeutic option. Despite being slowed by legal restrictions and stigma, research continues to show that when used appropriately, cannabis is safe and effective for many forms of chronic pain and other conditions, and has no overdose levels. Current literature indicates many chronic pain patients could be treated with cannabis alone or with lower doses of opioids. To make progress, cannabis needs to be re-branded as a legitimate medicine and rescheduled to a more pharmacologically justifiable class of compounds. This paper discusses the data supporting re-branding and rescheduling of cannabis.

 

 

CMT, Carrots and Cones- Rare Diseases to Care About

February 28 was Rare Disease Day!!

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Whoop-Dee-Doo!

Is that what you are thinking?  Hold on. Before you get all judgmental on me, let me explain why I believe Rare Disease Day to be a noteworthy event.

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Rare Diseases- The Backstory

Passed by Congress in 1983, the Orphan Disease Act defined a rare disease as a condition that affects less than 200,000 people in the US. This piece of legislation provided incentives, like tax cuts, to encourage pharmaceutical companies to develop medications for rare or orphan diseases.

Here are some Rare Disease Statistics:

-There are over 7000 different types of rare diseases.

-25-30 million people in the United States are living with rare diseases. That’s 1 in 10 Americans.

-It is estimated that 350 million people worldwide suffer from rare diseases.

-80% of rare diseases are genetic in origin.

95% of rare diseases have not one single FDA approved drug treatment!!

My son, Yohan, has CMT or Charcot-Marie-Tooth disease. Though it is known as an inherited disease, Yohan’s rare disease is the result of a spontaneous genetic mutation.  I guess these things gotta start somewhere. There is currently no way to slow down the progression of CMT.

 

Over the years, Yohan has literally tripped and stumbled, learning to manage this diagnosis and its symptoms. Progressive in nature, CMT gets worse over time. So just when you think you’ve reached status quo, WHAM, something else goes wrong. It’s the nature of the beast – the stuff that life is made of.

 

 

So, having CMT is bad enough, but then life gets even more complex when:

-You trip and break your kneecap.

 

 

 

 

 

-Your tremor is so apparent that a friend tells you that maybe cold turkey is not the way to go.

– Your fingers go rogue, making it impossible to grasp your cell phone before it falls into the port-a-potty. To make matters worse, you panic and attempt to retrieve it. Ewwwwwwww! But, it no longer works. Shit happens!

 

 

 

 

 

 

 

-You accidentally hit “send” on that that email no one was supposed to see. Monday morning is going to be a bitch.

 

 

 

 

 

 

 

You are suddenly diagnosed with a second rare and progressive disease.

Yes. Really.

No one ever made a rule stating that one rare disease per person is the maximum you can have. Some lucky people get none, and others get 2 or even more.

This past summer (2017) Yohan was diagnosed with a second rare disease that has nothing to do with CMT. It’s called Keratoconus (Carrot-A Cone-Us), which also has nothing to do with carrots and a lot to do with cones.

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With Keratoconus, the clear, dome-shaped tissue that covers the eye (cornea) thins and progressively bulges outward into a cone shape. It is also progressive in nature.

THANKFULLY, there is a treatment to slow down the progression. It’s called Corneal Collagen Cross-Linking (CXL) whereby Riboflavin or Vitamin B2 is used to strengthen the cornea. Unfortunately, this procedure is not FDA approved and still in the investigational trial phase. Non-FDA approved means that insurance will not cover the procedure, so I guess we’ll be paying out of pocket.

Rare diseases are expensive.

The shock of the diagnosis is fading, and we are all coming to terms with the news. Compared to foot surgery, this “should” be a breeze. But, I have trained myself never to use the word “should” because it sets unrealistic expectations, ends up undermining me and adds weight to my already present feelings of anxiety, stress, and lack of control in the world.

 

 

 

 

 

 

My first reaction to unpleasant or distressing news is to stick my head in the sand, even if I might suffocate. Instead of facing the facts head-on, I hide out for a while and do a lot of self-talking before I can come up for air and move forward. And I’m not even the one who needs the eye surgery!

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Where I Hang Out Most Days

How’s Yohan taking this? Yohan lives in the moment, in the now. And he is resilient. He doesn’t dwell on what might happen at some point in the future. He weighs the pros, the cons, seeks out good counsel and forges ahead. He must have got that quality from his dad as he sure did not learn it from me. On the contrary, I am learning from him….again. Funny how that happens.

Deep inside I know that whatever the future holds, we’ll all be able to handle the outcome. We always do.

But I first better get the sand out of my eyes or I might be undergoing a similar eye procedure!