"You have Parkinson's Disease."
Not what I was expecting to hear from the foremost expert in movement disorders to whom I had been referred to by a neurologist colleague. Instead I was hoping to be exonerated from what was obviously a ridiculous first opinion. What had started out as an intermittent tremor in my right finger had now evolved into a diagnosis of a progressive, incurable neurologic disease. As a physician, I should have seen it coming, the tremor had progressed and had become more consistent, my arm felt stiffer and I was having more difficulty with my fine motor skills. What I didn't expect was to hear such a diagnosis now, as I embarked on a new chapter in my life, at the start of my medical career, as I was expecting my first child -- at the age of 27.
In my case it was a diagnosis of Parkinson's, but the same general scenario is not unique. Millions of people face the same type of situation everyday - the disease they are diagnosed with may be different perhaps but life altering nevertheless. Chronic medical illness knows no boundaries, and does not discriminate on the basis of age, gender or ethnicity. At any point in our lives, our worlds can change in an instant with a physician's simple conclusion. And the journey that comes after such a declaration can be the most difficult of all but regardless it is one that must be made - both physically and emotionally.
For me, once my diagnosis was given to me, my dance with denial, anger, fear and secrecy began. As the tremor worsened in my right hand, then my right foot, and ultimately progressing to the left side of my body, I immersed myself in work and our growing family. And that growing family eventually included three beautiful daughters. It was easy for a short time to distract myself with the joys of motherhood - children and their innocence and joyful attitude are therapeutic in their own right. But despite the "happy face" I needed to put on for them, beneath the surface I was in a constant state of emotional turmoil.
For a long time, I focused on the difficulties I faced on a daily basis and all that I felt I was giving up. Primarily because it was not my choice to slow down, I was not given the option. My husband and I were both enjoying parenthood, we both had blossoming careers, and we were building a new house. Life should have been ideal considering all that we were blessed with, but there was always a shadow hanging over me.
This progressive neurological disease was taking over my body, stiffening it in the morning, cramping my feet to the point it was difficult to walk, amplifying my tremor, causing significant upper back and neck pain and turning my nights into restless exhaustion. There was no escaping it. I mourned the day I had to give up assisting in the operating room, and suturing in our urgent care. I hated the fact that I had to time my medications so that my hands would not be shaking when I gave immunizations or dressed wounds. It infuriated me that the tremor would give me an air of nervousness when I was sure in my knowledge and skills. And it was extremely difficult to try and do what was best for my patients, to help them through their medical issues while trying to hide and manage my own symptoms. The Parkinson's was slowly relentless. And it followed me into all aspects of my life - from caring for my young children to taking care of my home to my relationships with friends and family. A simple invitation to a social event entailed careful planning of the timing of my medications, and the energy expended to position my body to minimize any tremor or dyskinesia, was exhausting.
I was angry that at a time when life was so busy and exciting, I had to deal with this diagnosis. I became consumed the disability I was sure I was going to face. Would it put an end to my medical career? What about my plans to travel the world with my husband when we retired? Was I going to be there for my daughters as they journeyed through their life stages? And that's where I stood for a very long time. On the brink of disaster. In fact I spent almost a decade in defiance and avoidance.
But then ultimately things changed. They had to change. I was growing tired of the stress, it worsened my symptoms and it was changing me as a person. Although no one could tell from my happy demeanor, I didn't like the fact that I rarely laughed anymore that I was so intent on distracting myself with busyness that I was exhausting myself with constant activity.
I was at a crossroads. My future for now included this chronic illness but my life experience I began to realize would be very different depending on how I decided to face this challenge. This realization came gradually. There wasn't one defining moment; it was a natural evolution, a necessary change. My shift in perspective can be best summarized by a quote from Dr. Viktor Frankl (Austrian neurologist, psychiatrist and author of "Man's Search for Meaning") who said "Everything can be taken from a man but...the last of the human freedoms - to choose one's attitude in any given set of circumstances, to choose one's own way."
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This disease, which <a href="http://rarediseases.info.nih.gov/GARD/Condition/6506/Gigantism.aspx" target="_hplink">according to the NIH</a> is most often caused by a begnin tumor in the pituitary gland, results in an excess of GH, or growth hormone. This causes sufferers to grow abnormally large, not just in terms of height, weight but also organ size. It results in complications like delayed puberty, increased sweating, and secretion of breast milk.
Characterized as an eating disorder, <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pica" target="_hplink">Pica</a> causes people to eat what the <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pica" target="_hplink">National Organization for Rare Disorders describes as</a> "non-nutritive" things. That umbrella term can include (but isn't limited to) dirt, clay, paper, and paint. Interestingly, it's not unusual for young kids to experience transient pica as a kind of phase, and <a href="http://www.americanpregnancy.org/pregnancyhealth/unusualcravingspica.html" target="_hplink">pregnant women</a> are also known to develop temporary pica cravings. The cause? Unknown. But in order to be diagnosed with full-blown Pica, a person's symptoms must last for more than a month.
MSUD, which is passed down through families, is a life-threatening metabolic disorder passed down through families that stems from the body's inability to process certain amino acids, leading to a build-up of them in the body. <a href="http://rarediseases.info.nih.gov/GARD/Condition/3228/Maple_syrup_urine_disease.aspx" target="_hplink">According to the NIH,</a> symptoms usually surface in early infancy and can include vomiting, lack of energy, seizures, and developmental delays. MSUD takes its name from another symptom -- the urine in affected infants smells like caramel or maple syrup.
Situs Inversus is a congential condition in which internal organs of stomach and chest lie in mirror image of their normal body position -- something many sufferers aren't aware of until they seek medical help for an unrelated problem. <a href="http://en.wikipedia.org/wiki/Situs_inversus" target="_hplink">People with Situs Inversus</a> typically wear some form of identification to help doctors in the case of a medical emergency.
Trigger thumb, or trigger finger as it's sometimes known, causes a person's finger or thumb to get caught in a locked position. <a href="http://www.mayoclinic.com/health/trigger-finger/DS00155" target="_hplink">According to the Mayo Clinic,</a> it can then stay stuck or straighten with a painful "snap." The cause? It depends. Trigger Thumb is the result of a narrowing of the sheath around the tendon in the problem figure, but that can be caused by a lot of things, including any activity that requires people to grip things frequently. Trigger Thumb is also more frequent in women.
Once the disease of sailors and pirates, <a href="http://www.ncbi.nlm.nih.gov/pubmed/16911372 " target="_hplink">scurvy does still exist in the United States,</a> though predominantly in older, malnourished adults. It usually stems from a Vitamin C deficiency, which can result in gum disease, skin leisons, and swelling of the joints.
This progressive genetic disorder causes sufferers to store excess copper in tissues, including the brain and liver. <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Wilson's Disease" target="_hplink">Though the Mayo Clinic says</a> that the body depends on copper in order to use iron and sugar, too much of it in the body can have real consequences. Which is why sufferers of Wilson's Disease are prone to liver failure.
<a href="http://www.utdallas.edu/research/FAS/about/" target="_hplink">According to researchers at the University of Texas at Dallas,</a> this speech disorder causes people to experience a sudden shift in their accents and though it is known to be caused by things like brain trauma, conversion disorder, or multiple sclerosis, an exact reason behind the syndrome is unknown. Sufferers of FAS dramatically shift their speech in terms of timing and intonation, which often causes them to sound foreign, but they remain totally comprehensible. <a href="http://www.utdallas.edu/research/FAS/about/" target="_hplink">Documented accent shifts</a> include from American English to British and from British to French.
People who suffer from this acquired neurological disorder experience repeated, often painful, muscle spasms as well as muscular rigidity and stiffness. <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Stiff Person Syndrome" target="_hplink">According to the National Organization of Rare Diseases,</a> spasms can occur at random or they can be caused by something as seemingly benign as light physical contact or an unexpected noise. The cause of Stiff Person Syndrome isn't yet known, but symptoms can be stabilized with medication. Left untreated, however, a person can lose the ability to walk.
<a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Carcinoid syndrome" target="_hplink">According to the National Organization of Rare Diseases,</a> about 10 percent of people with carcinoid tumors -- which <a href=" http://www.mayoclinic.com/health/carcinoid-tumors/DS00834" target="_hplink">the Mayo Clinic says</a> are slow growing tumors that produce excess serotonin and usually appear in the gastrointestinal tract or lungs -- get this syndrome. It occurs only in patients whose tumors have metastasized to the liver. The symptoms? Wheezing, hotness, and extreme facial blushing.
Children and adults afflicted with <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cyclic Vomiting Syndrome" target="_hplink">CVS</a> experience recurrent episodes of severe vomiting, which can last for days, followed by sudden periods of no vomiting. While kids are likely to experience more frequent attacks, adults's often last longer. To date, the cause of CVS is unknown.
This obscure, <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Peeling Skin Syndrome" target="_hplink">genetic skin disorder</a> does exactly what its name implies: causes sufferers to experience constant shedding of their skin. (In some patients, peeling is limited to the feet and hands.) Along with that, sufferers often feel itching and redness -- symptoms that can appear from birth or develop later in life. Although the exact cause is unknown, <a href=" http://www.nature.com/jid/journal/v130/n6/full/jid201023a.html" target="_hplink">a mutation in the TGM5 gene</a> has been identified in many sufferers.
This is a blanket designation for several rare platelet abnormalities, most of which lead to mild or moderate bleeding disorders. <a href="http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5034" target="_hplink">According to the NIH,</a> the problem stems having limited granules -- the parts of platelets that, among other things, store ADP -- the energy released when a molecular bond is broken. That reduction in storage space inhibits the platelets' ability to secrete <a href="http://www.biology-online.org/1/2_ATP.htm" target="_hplink">ADP</a> in a speedy fashion, which is thought to be what causes the bleeding. Classic symptoms of a Platelet Storage Pool Deficiency are nosebleeds, excessive bruising, and profuse bleeding in surgery.·
Only nine people in the United States are known to have this disease, which was just given a name in a recent study in the<em> New England Journal of Medicine</em>. ACDC, or arterial calcification due to CD73 deficiency, results in calcium build-ups in the arteries below the waist of sufferers and in the joints of their hands and feet. <a href="http://rarediseases.info.nih.gov/files/NIH ArterialCalcNEJM-final.pdf" target="_hplink">According to the NIH,</a> the breakthrough discovery found that the disease is related to a variant in the NT5E gene.3
<a href="http://rarediseases.info.nih.gov/GARD/Condition/6191/Conversion_disorder.aspx" target="_hplink">This condition,</a> which typically occurs after an extremely stressful emotional event, causes a person to experience sudden blindness or paralysis that can't be otherwise explained. People with mental illlnesses are at particularly high risk and psychological treatment can help lessen the symptoms.·
Ochronosis results in black or blue external tissues, often the ear cartilage or eye, though it can occur throughout the body. It affects people who suffer from certain metabolic disorders, but it can also be caused by exposure, though <a href="http://www.ncbi.nlm.nih.gov/pubmed/11705248" target="_hplink">scientists</a> aren't exactly sure to what. Not just a cosmetic issue, the affected areas can become brittle and degenerate over time.
This condition, which is caused by genetic mutations in the so-called ACADVL gene, keeps people from converting certain fats to energy. <a href="http://rarediseases.info.nih.gov/GARD/Condition/5508/VLCAD_deficiency.aspx" target="_hplink">According to the NIH,</a> the deficiency often presents during infancy in symptoms including low blood sugar, weakness, and lethargy.
As the name suggests, Hairy Tongue is a condition in which the tongue develops a black, hairy texture. <a href="http://www.mayoclinic.com/health/black-hairy-tongue/DS01134 " target="_hplink">According to the Mayo Clinic,</a> the disease is "harmless" and is caused by an overgrowth of bacteria in the mouth, which can be treated with antibiotics. <a href="http://rarediseases.info.nih.gov/GARD/Condition/6561/Hairy_tongue.aspx" target="_hplink">The NIH reports</a> that hairy Tongue can also present as brown, yellow, or green discoloration. ·
This obscure, inherited disorder presents at birth and causes infants to grimace when, in fact, they are attempting to smile. <a href="http://www.everydayhealth.com/health-center/ochoa-syndrome.aspx" target="_hplink">The disorder also includes</a> an extreme urinary abnormality: an obstruction that interrupts the connection between nerve signals in the spinal cord and bladder, leading to incontinence. <a href="http://rarediseases.info.nih.gov/GARD/Condition/104/Ochoa_syndrome.aspx" target="_hplink">Though treatment does exist</a> in the form of antibiotics and bladder re-education, some patients can develop renal failure in their teens and 20's, which can be life-threatening.
This syndrome, caused by a particular calcified ligament or elongated bone, frequently causes sufferers to feel that something is stuck in their throat. (Scientists don't know the reason behind said elongation/calcification.) Other symptoms can include ear and throat pain as well as difficulty swallowing. <a href="http://rarediseases.info.nih.gov/GARD/Condition/9401/Eagle_syndrome.aspx" target="_hplink">According to the NIH,</a> it can be treated surgically or non-surgically with steroid injections and other anti-inflammatories.
<a href="http://www.mayoclinic.com/health/progeria/DS00936 " target="_hplink">According to the Mayo Clinic,</a> only around 130 cases of this devastating genetic disorder have been documented since it was discovered in 1886. Affected babies normally appear normal at birth, but within 12 months begin to have symptoms like hair loss and wrinkles. <a href="http://www.mayoclinic.com/health/progeria/DS00936 " target="_hplink">According to the Mayo Clinic,</a> progeria is caused by a genetic mutation, but not one that's passed down through families; it's a chance event that affects only one egg or sperm. The average life expectancy for sufferers is 13.
I began to understand that although the diagnosis was simply not within my control, how I faced this challenge was ultimately mine to determine, moving me from a position of helplessness to one of true empowerment. This realization didn't change my symptoms. It didn't lessen my disability. It didn't soothe the physical pain. But what that change in perspective did, was to allow me to choose not be defined by my disease, to thrive despite its limitations and to concentrate on those variables that I do have control over. This fundamental paradigm shift did not come easy, nor quickly in my case but once I was ready to accept my diagnosis, it did come quite naturally.
Now I try to live my life with an optimistic outlook. After all, I couldn't have made it successfully through the past 15 years watching as my body has deteriorated, my health falter and my life change forever by focusing on the negative. I know that my life experience depends on how I approach this challenge and it is for this reason that I try and look at the blessings I have been given instead of all that has been taken away. And for the most part, I approach each day with a feeling of gratitude and optimism but I'm only human and I too have my down days - days when this journey seems too difficult to navigate, times when I feel defeated.
Thankfully those days are far and few between and I've learned to recognize them for what they are, accept them as being a normal part of this experience and allow them to run their course and bring my focus back to the positive. After all no one knows what life will bring and at some point you have to abandon your fear of the future in order to begin living your present.
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