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Early Signs of a Rare Disease

Now that I have been diagnosed with Myelin Oligodendrocyte Glycoprotein Antibody Disease, or MOG-AD, I have met others who are afflicted and have listened to their stories.  They all start similarly, with an acute attack, out of the blue, and always marking the start of an unexpected turn in health.  My story is different.  I experienced unexplained chronic fatigue and a slight dimming of vision: a little peek of what was to come.

Almost 19 years ago at the point of writing this story, I was a young mother, with a wonderful husband and 2 beautiful little girls.  By all rights I was in the happiest part of motherhood.  I had a good life with my family and I had plenty of energy.  I don’t really remember how or exactly when it came on, but I started to notice that I was feeling very fatigued, shaky and weak, especially when exerting myself.  I had labored breathing at times and I felt like my legs weighed a million pounds.  It is hard to describe, but it seemed like if I stopped struggling to breath, my body would just stop breathing naturally.

A typical day for me started with normal energy, which only lasted about 2 hours.  After that I could barely walk, I had labored breathing and I felt like if I did not lie down, I would fall down.  Frankly, it was frightening.  If I took a nap for about an hour, I was fine again and the whole cycle would repeat.  That feeling, while waxing and waning, did not leave me for two years.  I prayed and a few times, there were tears.  Because of the support of my husband and family though, I never gave up hope even though life was over as I knew it. Early in this two-year battle, I remember noticing one day that our normally bright kitchen seemed dimmer than usual.  I asked my husband what he thought and he said it didn’t seem darker to him.  It was very subtle and only lasted a week.  Also during this time, I remember many trips to the doctor to try to figure out what was wrong. The repeated visits were frustrating for my doctor, who just told me that he had no idea what was wrong with me as my blood tests were perfect.  His staff stopped returning my calls.  Frustrated myself, I found a new doctor.  I was told the same thing by this new doctor as well and my visits, I could tell, were an annoyance to him.  Despite asking for more tests, I never saw a neurologist or was given an MRI.  I look back and wonder if they would have seen something.  My doctor did, however, send me to a psychiatrist because he suspected that my fatigue was caused by depression.  Despite being adamant that I was not depressed, he insisted, so I went.  After talking with the psychiatrist, he said the funniest thing I’ve ever heard one doctor say about another.  I won’t repeat it here.  Needless to say, he did not diagnose me with depression.  He instead said that he did not know what was wrong with me, but he did know that I needed a new doctor.
Julia and her older daughter smiling with San Diego Harbor in the background from their hotel
Julia and Kristina Lefelar
Graham and Julia Lefelar
After those two years of chronic fatigue, I slowly got better, always wondering if that terrible fatigue would return.  I wondered if I would die from this mysterious illness and thought about never seeing our girls get married or meeting our grandchildren.  It was a scary time.  I did pretty well for the next four years until I got Lyme Disease.  At the time, I was very sick and I noticed again that the dimming vision occurred.  Again, it was very slight and this time I brushed it off because it had happened before and it didn’t seem to be a problem because it went away.  Little did I know, that was a clue to unlocking the mystery. Fast forward to April of 2014.  After a terrible cold, I started having intense stabbing pain around my eye sockets, especially while rolling them around.  I was treated with antibiotics assuming it was a sinus infection, but the treatment did not work and the pain only got worse.  It wasn’t long before I started going blind.  I raced to the eye doctor who immediately got me in touch with an optic neurologist, Dr. Shalom Kelman in Baltimore.  By the time I saw him, I was almost blind.  He confirmed that I had Optic Neuritis and I he treated me with a round of high-dose Solumedrol for 5 days.  He hoped that would be the end of it, but a week after the treatment ended, I was completely blind.  It happened twice more, in one eye, then the next, and included a week in the hospital.  The fourth time was in both eyes, and that’s when he suggested that I had Neuromyelitis Optica, or NMO, and I ended up in Dr. Michael Levy’s hands at Johns Hopkins Medical Center in Baltimore, Maryland.  At the time, Dr. Levy put me on Rituxan which put a stop to my persistent attacks.  What a relief.  After a blood test to determine whether I had NMO, I was categorized into a group of 30% of people who meet the criteria for NMOSD but test negative for the Aquaporin-4 antibody, which is considered the blood test for NMO.  Dr. Levy diagnosed me at that point for NMOSD.  I went on for 3 more years using Rituxan, but every time I caught a cold, I had another attack, usually in my eyes, but once or twice in my spine, with a small lesion causing leg spasms and bladder issues.  Finally, when the MOG antibody test was perfected, Dr. Levy tested me for MOG.  It was positive.

Finally, after a total of 17 years, I knew exactly what had been causing all of my problems.

Because of my new diagnosis of MOG-AD and the failure of Rituxan, I was put on CellCept.  I continued on this medicine for 2 years with no relapses and I felt pretty good with plenty of energy. Most recently, because of small infections and low immunoglobulin, I switched to IVIG and am still stable.  My wounds mostly healed but my eyes are damaged from past attacks.  Thankfully, I can function normally and live independently.
Julia and Kristina Lefelar
Someone once told me that either I would get better and no one would ever know what was wrong with me, or I would get much worse and doctors would figure it out.  What words of wisdom they were.  I had to practically lose my eyesight in order to finally find answers.  Having a rare disease often sadly means that no one is out there to help.  No resources, no support and no answers.  I was lucky to finally find Dr. Levy; not everyone is.  This is the reason that my daughter Kristina and I wanted to start The MOG Project.  Others affected by MOG-AD helped make this dream a reality by joining to create a team of people with a desire to spread awareness: Amy Ednie, Cynthia Albright, Peter and Pamela Fontanez, Jen Gould, Andrea and James Mitchell, Diana Lash, Chuck Bies, Chelsea Ednie, Jim Broutman and Sarah Huson-Whyte.  Recently, we have taken on new volunteers and we are growing.  These members span across the United States and across the pond, and all have had their lives turned upside down by MOG-AD.  The members of the MOG Project, known as the MOG Squad, work hard to advocate for others.  Our mission is to support the community of those who have nowhere to go and are frightened at the prospect of having a rare disease with no cure.  Our overall mission is to raise awareness, educate and advance research because, as a rare disease, there is a lot of misinformation, lack of education for patients, caregivers and doctors, and not a lot of research addressing MOG-AD.  We are so lucky to have found each other and even luckier to all be filled with resolve to accomplish great things.  While this is not the end to my story, it certainly is the turn upward to a bright new chapter filled with hope.

By Julia Lefelar

3 thoughts on “Early Signs of a Rare Disease”

  1. Hi Julia, I am really happy that you and your daughter started this project. My situation is very similar to yours but it effected my walking more than my vision. I wish there was some way the test for the MOG Antibody could be done prior to an attack, i.e., as a means of prevention, so as to avoid damage. I had symptoms for 15 years prior to the attack that landed me in the hospital paralyzed from the chest down. I even saw a neurologist at that time because my optometrist noticed a pallor on my optic nerve head. The neurologist told me to come back when I develop “real” symptoms, but I needed a referral from my family doctor who dismissed my concerns outright. I changed doctors 3 times and was still treated like I was making up stories. I wish my children and grandchildren could be tested for the MOG Antibody. I worry that they might have an attack one day that could have been prevented.

  2. I have suffered from MOG for almost two years now! I feel the same way you did as far as energy and feeling like I was going to fall all the time due to extreme weakness! Mine affects my walking and spine more then my vision. I sometimes have these blurry periods and somewhat of a hard time seeing. My bladder and bowels have been affected due to this illness too! I wish they had more resources and knowledge about this awful debilitating auto immune disease! I keep pushing through life and only hope things turn around and get better for me.

  3. Hi my name is Erin and I was diagnosed with MOG two years ago at the Mayo. I started with a headache that would not quit. I saw a doctor thinking maybe it was an ear infection, nope, i saw a dentist thinking it was my teeth, nope, so for days I took tylenol, suffered, tried to sleep, could not eat,
    My daughter who had been on vacation, came over and as I sat on the couch with the grandkids tipped right over…I laughed because it was so ridiculous, convinced my daughter I would be fine, she left but turned around and out of concern gave me an ultimatum. She was bringing me to the ER or calling 911…I was admitted for a week and had many many tests, at one point they treated me for meningitis while waiting for the tests results to come back. That was not it, so they sent me to Mayo where after a week of tests, spinal, MRIs I as diagnosed. I was given intravenous steroids for a week then high dose steroids (60mg). The headaches did become less severe…but I could not walk without help. I had a friend stay with me for about two months and my memory was gone. My MRI showed my entire head was covered with inflammation, I was given an antidepressant…that really messed me up… my daughter was so scared she brought me to the ER…lol…I wasn’t depressed at all, then or now, I’ve always been pretty upbeat….then we tried cellcept which really upset my stomach so after several improved MRIs, steroids, we decided to see if we got it, I relapsed within two months of tapering off the steroids although I’m thinking it just didn’t go away, I was improved but far from better, we saw the relapse on the MRI which showed an area of inflammation on my brain again, smaller but new. I started IVIG monthly about 7 months ago. The plan is to end the treatment in July. Today I am still a bit unbalanced, unable to drive, weaker than I use to be, but functioning very well compared to the past couple years! Yay!! I have tried physical therapy a couple times, however I struggled so much and its not a type of thing some physical therapy could change, it seems I improve in tiny micro steps Very hard to explain, I also went through a few months of shortness of breath which was a bit scary, bowel and urination issues for awhile, back pain, and now mild headaches pretty regularly. I am super hopeful tho. I wish there was some reason to this, how did I get it? I’ve been healthy all my life and was tested for every single possible thing…My expectation is full recovery!! Its so good to read this blog and know I’m not alone, I am still the only MOG patient my neurologist has had. I live about 5 hours from Mayo in a smaller town in Northern Minnesota. My neurologist and I are learning as we go. I would love to hear how everyone is doing, Take care and sll will be well!!

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Massachusetts General Hospital
Harvard University

Michael Levy, MD, PhD

Dr. Levy is an Associate Professor in Neurology who was recently recruited to lead the new Neuroimmunology Division at the Massachusetts General Hospital. His mission is to build a combined clinical and research neuroimmunology program to develop therapies for patients with autoimmune diseases of the central nervous system. Dr. Levy moved from Baltimore, MD, where he was one of the faculty at Johns Hopkins University since 2009 and Director of the Neuromyelitis Optica Clinic.

Clinically, Dr. Levy specializes in taking care of children and adults with rare neuroimmunological diseases including neuromyelitis optica, transverse myelitis, MOG antibody disease and acute disseminated encephalomyelitis. In addition to four monthly clinics, Dr. Levy is the principal investigator on several clinical studies and drug trials for these conditions.

In the laboratory, Dr. Levy’s research focuses on four main areas:
1. Development of animal models of neuromyelitis optica (NMO) with the goal of tolerization as a sustainable long term treatment: His team generated a mouse model of NMO based on pathogenic T cells reactive against the aquaporin-4 water channel. Now, they are using this mouse model to create a tolerization therapy to desensitize the immune response to aquaporin-4.
2. Genetic basis of transverse myelitis: His team discovered a genetic mutation in VPS37a found in a group of patients with a familial form of transverse myelitis (TM). To understand how this gene is involved in this immune process, they generated a mouse model with this mutation.
3. The immunopathogenesis of MOG antibody disease: This may depend on a subset of T cells called gamma/delta T cells. These specialize T cells react to MOG in mouse models and attack the central nervous system. In addition to understanding why and how these T cells are involved in MOG antibody disease, they are developing a treatment to target these cells.
4. Biomarker assays for other autoimmune diseases of the central nervous system: They are developing assays that detect autoreactive T cells in NMO and MOG antibody disease. In parallel, they are screening for novel antibodies to glial cells in related disorders such as encephalitis and optic neuritis.