Tingling on the side of the face during tasks involving intense cognition was my first symptom.
Nature of my job involves regular problem solving of various degree, on certain occasions there was a halting tingling sensation on the right side of my face to the end of lower jaw.
Initially the tingling sensation occurred about once in a month for about three months, gradually increasing to occur about a couple of times in a month & later to a new symptom of acute pain on the right-back side of the head.
I consulted a Neurologist, with no obvious symptoms of any anomalies with my brain from physical tests; I was suggested that the tingling sensation could be due to work related stress and was asked to take on related medications.
After a month of medication, though the tingling sensation had subsided; the pain on the right-back side of the head had worsened. I was asked to take a MRI for brain at this point.
Though the MRI was for the brain, the Radiologist was proficient to identify an anomaly with spine & called me again to take an MRI for spine. The MRI for brain didn’t show any abnormalities, but the MRI for spine showed fracture with the odontoid process — OS odontoideum & T2 hyperintensity.
I was told that my pain in the head & tingling sensation could have been due to the anomalies with the spine & was referred to an orthopedic surgeon immediately.
The orthopedic surgeon advised to consult a spine surgeon as leaving spinal stenosis untreated would result in me becoming quadriplegic and surgery is the only way forward to get it treated.
I consulted multiple spine specialists & their diagnosis were same, that I should get operated soon to address the condition or risk 100% paralysis on all 4 limbs.
Odontoid is the top most region in the C2 (second cervical vertebra). C1 along with C2 helps in rotational movements of the head like a wheel on the axle; aptly C2 is anatomically called axis.
Though there are different types of odontoid fractures with varying levels of severity, medical community largely agrees upon three major classifications of the same.
My fracture being in the tip of the odontoid fracture, would be Type-I; a rare but relatively less severe fracture in general. I was told that due to the distance by which the bone fragment had traveled in my case; the fracture by itself would need surgery to be fixed.
Narrowing of the spinal canal resulting in the pressure on the nerves is called spinal stenosis. If it occurs in the cervical region (neck) as in my case, it is cervical stenosis & if it occurs in the lumbar region (lower back) it is lumbar stenosis.
Apart from the orthopedic surgeon, multiple expert spinal surgeons confirmed the necessity to get operated for this condition & the risk of paralysis if left untreated.
CT scan report confirmed the earlier findings and mentioned the dimensions of the spinal canal.
About 15 years back when I was 15, last of my Ilizarov limb straightening surgical procedures were carried on. The reason being, my legs started bowing again as it did when I was about 7 years old; Ilizarov procedures were carried upon then as well.
Ilizarov apparatus is an external device which by planned fractures to the bones with regular manual screw adjustments helps with straightening, lengthening & even better union (joining fractured bones).
By the time I got operated again for limbs when I was 15, it was clear that my height has been stunted since the first surgery at 7; but I was assured by the doctor that I would grow up-to at-least 5.5 feet. I’m now at 4.5 feet.
The orthopedic doctor who treated me till I was 15 didn’t diagnose my condition as achondroplasia at that time, either due to blatant oversight or the symptoms of condition weren’t clear at that time, though unlikely.
Achondroplasia is a mutation of FGF3 gene resulting in a common form of dwarfism characterized by shortened limbs.
I was told by my spine surgeon that spinal anomalies are of common occurrence with patients of Achondroplasia as we strain our necks to look up through out our life.
During my final checkup with my orthopedic doctor about 18 years back, I was told that my calcium & vitamin D levels were low based on Bone Mineral Density test. I was asked to take on supplements for the same, which I did for about 2 years and discontinued it on my own fearing it’s repercussions on kidney.
Fast forward now, with spinal anomalies; I wanted to take the BMD test again. My current bone BMD reports revealed dangerously low levels of density leading to osteoporosis & osteopenia with high risk of fractures.
Studies show low bone mineral density in achondroplasia.
I’m now on Calcium, Vitamin-D3 supplements along with Zoledronic acid intravenous treatment to address osteoporosis. Though this has complicated the treatment for spinal stenosis, it’s now being treated separately by an endocrinologist.
Unlike first 15 years of my life, I haven’t been on any medical treatment for the past 15 years; until now.
Besides obvious short-comings (pun intended), I was physically very active. Exercises including pull-ups, walking 1 Km to & from the office every day were part of my routine. I wonder whether I overdid it to compensate for the pain from osteoporosis.
Burn outs were regular, as an entrepreneur I attributed it to being single founder of an ambitious startup taking care of management, leadership, finance & of-course technology.
Though I don’t attribute my lifestyle choices directly to my present medical conditions, failure to asses my conditions at an earlier stage though it’s questionable on whether it could have made any difference is an outcome of my lifestyle.
Every expert I consulted regarding the spinal stenosis suggested surgery as the immediate course of action.
I decided to undergo C1-C3 fusion which would fuse cervical vertebrae 1 & 3 using permanent titanium screws & donor bones. Apart from supposedly curing the cervical stenosis, it would preserve the lateral rotational movements of the neck (looking left & right) to some extent.
Due to the physical limitations brought upon by this surgery, I would loose the ability to look up & down to the chest (flexion, extension). I was also repeatedly informed that due to the complexity of the surgery, it would be life threatening to undergo it.
Since, not opting for surgery means risking imminent paralysis; I decided to go ahead with it.
Surgery was conducted for about 3–4 hours using intraoperative CT navigation. The surgery was largely successful, except for right C2 pedicle screw being differed due to high riding vertebral artery.
I was made to walk incrementally 4 days after surgery & was discharged in 10 days. I was reminded to be extremely careful for next several months and to avoid any activities which could affect the recovery like bending, flexing etc.
Pain is manageable, but I wouldn’t dwell too much into it as pain is subjective & It’s not my first time in such situation; I didn’t subsist on pain-killers either.
Apart from obvious neck-stiffness, which is likely to be permanent; back side of the head is numb from several nerves being cut for surgery.
The sutures were of dissolvable type, not that the visible scars being my concern.
I was given Sternal-Occipital-Mandibular Immobiliser (SOMI) Brace to wear full-time except during sleep; at which I had to wear a soft collar.
After a month, SOMI brace was replaced with Philadelphia collar; partly on my insistence as the SOMI brace were a sore on my shoulders.
There’s risk of bacteria or other microbes forming a bio-film over any permanent implants leading to infections; research is underway by medical engineers to address this issue.
Due to the restriction of neck movements, there are major accessibility issues during recovery & post-recovery due to some of the permanent restrictions detailed above.
Though there were some major accessibility hurdles with regard to computation during bed-rest; I’ll document it another time for the sake of brevity. Now that I can manage to sit, I could type using wireless keyboard on my lap albeit from muscle memory as looking down at the keyboard is not an option anymore to me.
Like wise, walking, climbing stairs etc. needs to be done with extra precaution as the hurdles in the path isn’t visible anymore & my peripheral vision needs to work overtime. Falling down now would not only be dangerous owing to my spinal surgery but, also due to high risk of fractures from osteoporosis.
- Wrong diagnosis or not diagnosing my condition as achondroplasia by the pediatric & orthopedic doctors who treated me when I was child have created life threatening scenarios.
- Achondroplasia is prone to loss in bone mineral density & spinal stenosis.
- Achondroplasia should be treated as a chronic illness, treating with cosmetic surgeries alone like Ilizarov limb lengthening & straightening is not the solution.
- Though achondroplasia being one of the oldest recorded genetic defects, it’s correlation with other bone related diseases are still not known among even expert medical professionals; not to mention there’s no cure for achondroplasia yet.
- Bone unlike other organs, doesn’t necessarily show signs of failure until catastrophic failure (fractures). Full body medical check ups generally ignore bone health checkup, insist on a BMD test.
- Surgery being the only cure to prevent becoming quadriplegic in the cases of severe cerebral stenosis.
- C1-C3 fusion though preserving rotation movements to some extent, limits flexing & extension movements for life-time. Risk of microbial infections over the implants is note worthy.
- Lifestyle changes are needed to address the accessibility issues resulting from C1-C3 fusion.
I wish someone had warned about the potential consequences of achondroplasia, hence I’m documenting my conditions for posterity.
Due to the technical challenges involved, data on C1-C3 fusion for spinal stenosis seems to be very limited.
I’m winding down operations at our startup & en-route to sell our products to interested companies; to focus on physical & mental health.