- CASE FILE
For the past 2+ years my wife has been losing the ability to use her arms n legs. 20 + drs 12 dif diagnosis's & continues to get worse.
ABOUT THIS CASE FILE
I am a 37-year-old Type 1 diabetic diagnosed with immune mediated motor neuropathy. I noticed symptoms in March of 2017. Below is a timeline of illness and mis-diagnosis.
March 2017- I went to my general care doc and said (verbatim) that I felt like my right thigh muscle was atrophying. I can't explain why I used the term, but just felt as if there was a disconnect and only in my right thigh (not calf). She gave me an anti-inflammatory and said I might be a little depressed.
June 2017 - Went to orthopedic surgeon -same symptoms, gave me another anti-inflammatory and PT (which I never went to and never took meds)
Aug 2017 - I realized it was getting worse and I wasn't able to walk upstairs on my right leg.
September 2017 - Back to ortho surgeon and he gave me another anti-inflammatory and lumbar MRI w/out contrast. I took anti-inflammatory this time and it did nothing, Lumbar MRI came back as unremarkable so he referred me to neurologist.
October 2017 - Waiting for neurologist appt, I started to go to a chiropractor (in desperation). I went 3x a week for a month and noticed it was getting worse.
December 2017 - Neurologist ordered Brain, Neck and Thoracic Spine MRI and EMG test. By this time, I realized that I couldn't stand on my tip toes on my right foot.
Brain, Neck and Thoracic MRI's came back as unremarkable and EMG/Nerve conduction study came back suggestive of diabetic amyotrophy.
January 2018 - Neurologist ordered a Pelvic MRI (unremarkable) and referred me to neuromuscular specialists
February 2018 Saw rheumatologist- he referred me back to neurologist
Saw infectious disease- Dr. said he understands why I was there but w/out having major illness around the time this first started he couldn't pinpoint it to an infectious disease.
Mar 2018 - Repeat EMG of lower limbs found that not only is nerve damage in right thigh- it's in my left leg as well. I don't feel any different in my left leg but have been falling a bit more. EMG of upper limbs was negative for nerve damage.
Dr. Mitsumoto, a motor neuron disease specialist at Weill Cornell and he said there are obvious motor neuron issues, but cannot give me a dx and even then, the dx would depend on progression.
April 2018 – Repeat pelvic MRI was unremarkable. I tested positive for celiac disease, positive in 1st round of Lyme disease (negative on western blot), elevated CPK and elevated vitamin B.
May 2018 – Dr. Visconti (infectious disease) repeated blood work. Found I had Lyme disease in my system. Speculated that motor neuron disease was caused by a combination of rocky mountain spotted fever, coxsackievirus A and B and mycoplasma that was causing motor neuron disease and the breakdown of my muscles. He prescribed doxycycline 2x a day for 3 weeks. My neuromuscular specialist also prescribed me IVIG for 5 days month 1, followed by 1 day monthly.
June 2018 – Dr. Song, a new neurologist is testing me for SMA (spinal muscular atrophy). After a repeat EMG of my whole body, she concluded that there was evidence my nerves were trying to repair (after antibiotic and 1st round of IVIG) and also said that nerve damage appeared consistent with a virus. The bloodwork for SMA came back as negative and referred me to get a lumbar puncture.
August 2018 – After reviewing results from the spinal tap, Dr. Song has diagnosed me with CIDP (chronic inflammatory demyelinating polyneuropathy). She prescribed me to receive 120 g/kilogram of IVIG, once a month and said I would notice a drastic change after 18 months of treatment. She had specified that the condition is auto immune illness and reversible but not curable.
October 2018- After receiving two rounds of increased IVIG, I contacted Dr. Song, specifying that I am feeling weaker and falling more. Curious to know if there are other treatments available, such as corticosteroids or an even larger increase in IVIG. Dr. Song specified that I have not been on treatment long enough for it to work. 10/12/18 I fell and broke my foot in two spots on my metatarsal bone.
Dr. Melissa Bernbaum a neurologist agreed with CIDP
Dr. Vishnubhakat S. Murthy, a neuromuscular specialist agreed with CIDP.
November 2018 – Fell on thanksgiving and broke my foot on another two spots on my metatarsal bone.
Upon leaving Mayo clinic, the head of neurology was convinced that I had an auto-immune issue that was causing motor neuron disease. This was determined by the results of a spinal tap which yielded elevated protein and white blood cells. and lymph nodes in my pelvic MRI were enlarged. The direction was to move forward with a round of immunotherapy (Rituximab) and a PET Scan. I was to follow up with my neuromuscular doctor and find an oncologist to administer Rituximab,
The doctors at Mayo called to tell me that genetic tests returned and I tested positive for SOD1, which is a familial amyotrophic lateral sclerosis gene. The positive test result caused the doctors to shift their focus from an auto immune issue to a motor neuron disease. As of present time, I have contacted Mike Doyle at Massachusetts General Hospital to partake in a clinical trial called MGH SOD1ASO.
Dr. Anthony Geraci, a neuromuscular specialist with Northwell health diagnosed me with ALS.
I went to Boston, MA to meet with Dr. Babu who is heading a clinical research trial for the genetic mutation. Her trial is focusing on blocking the protein that the SOD 1 gene builds up. 2% of people with ALS have my genetic mutation and she is looking for 60 additional people to fill the trial. She diagnosed me with ALS. I told her I was adamant about moving forward with Rituximab and she was hoping to discourage me from doing so as it would delay my entrance into the trial
Dr. Babu called my neurologist Dr. Song. Dr. Babu had felt Dr. Song was incorrectly advising me to move forward with immunotherapy. Dr. song is adamant that this can be immune mediated motor neuropathy because:
1) Elevated protein in CSF (Dr. Babu states it can be from diabetes but Dr. Song said otherwise)
2) White blood cells in my CSF
3) In my pelvic MRI, the nerves in my Right leg (which is the worse affected) lit up and all doctors agree that this is not typical of ALS patients, as with ALS patients the nerves are dead and unresponsive.
4) Dr. Song stated that it is not typical of multifocal motor neuropathy to have protein in CSF.
3/21/19 I had my first 1000mg infusion of Rituximab.
4/4/19 I had my 2nd dose of 1000mg of Rituximab,
8/5/19 At my urgency, the oncologist allowed me to get my 3rd dose of Rituximab 2 months early. Time is now the only decisive factor.