At 5 years old, my daughter Isabel was a beautiful, bubbly girl with no health problems. I took her to the Father-Daughter Dance and she became ill 2 days later. This was the start of what would amount to 3 hospital visits and 5 doctor visits with multiple misdiagnoses. One week after the Father-Daughter Dance, Isabel was admitted for what would turn out to be a misdiagnosed disease. At first, she was having seizures with active vomiting, extreme behavioral changes and her doctors did not know what was going on. They continued to treat her for unrelated illnesses. Even while in the hospital, the doctors there attempted to discharge her, stating that it was only an infection and that she was fine. We told the doctors that it was something neurological and that she was in an altered mental state. They insisted that this was not the case and that we did not know what it was. By the next day, she was in the Pediatric ICU fighting for her life, paralyzed and unable to speak with absent seizures as well as other neurological problems and altered consciousness.
The doctors treating her were concerned and told us she may not make it through the night as her body
was shutting down and they were concerned her respiratory function may go next. In ICU the doctors said they would have to rule out meningitis and would have to do a lumbar puncture without sedation due to how far gone she was. They requested that we hold her down since there was no sedation. After the lumbar puncture, they diagnosed her with acute disseminated encephalomyelitis, or ADEM, and at the time, it was believed to be a “one-time illness”. After getting high-dose steroids she was able to come home, and it took over a month to get her walking on her own and drinking without a straw. The next 18 to 24 months we had her in therapy to help make almost a full recovery with only slight cognitive delay being noted.
At the beginning of January and February of 2016, this supposed “one-time illness” attacked again. For 3 weeks we took her to 15 doctor visits with 9 different doctors and 3 hospital visits to be told nothing was wrong and that we were over-reacting. We continued to fight against these doctors and 3 weeks from the start and almost 2 years to the day of the first attack she had a relapse of ADEM with Optic Neuritis (ON). However this time she was left blind in one eye and for several weeks, continued losing her vision in the other, along with extreme behavioral changes and severe headaches.
At the beginning of January and February of 2016, this supposed “one-time illness” attacked again. For 3 weeks we took her to 15 doctor visits with 9 different doctors and 3 hospital visits to be told nothing was wrong and that we were over-reacting. We continued to fight against these doctors and 3 weeks from the start and almost 2 years to the day of the first attack she had a relapse of ADEM with Optic Neuritis (ON). However this time she was left blind in one eye and for several weeks, continued losing her vision in the other, along with extreme behavioral changes and severe headaches.
Doctors then said that we were somewhat right but also wrong in that it was not a relapse but what they thought was Multiple Sclerosis (MS), a diagnosis without doing any testing. They then tried to treat her with MS drugs. We had already done a great deal of our own research, and going on what we learned, we requested a new test for the anti-MOG antibody which they did not do because they did not know what it was and had never heard of it. We knew that the MS treatment would make patients with MOG Antibody Disease (MOG-AD) worse and we did not want to chance it without her first being tested for the anti-MOG antibody. The local doctors refused to test her, saying again that we were wrong. After almost being misdiagnosed in Orlando where we live, we refused to listen to the doctors. We felt what she was having was the even more rare version of her illness called multiphasic ADEM or MDEM, which is a form of recurrent ADEM. We reached out to multiple hospitals and only Boston Children’s Hospital and Philadelphia Children’s Hospital contacted us back. Others told us to go to Philadelphia Children’s Hospital. We choose Boston Children’s first not only because they called us back about a week before Philadelphia Children’s, but also since we were racing against time. Our local doctors were now saying we were withholding care from our daughter since we were not giving her treatment for MS. We needed to do something fast.
Within several weeks, we raced to get an appointment and in April of 2016 we flew our daughter up to Boston Children’s Hospital to be seen by Dr. Gorman and properly diagnosed. The doctor there ran several tests and even tested her for the anti-MOG antibody per our request. He was surprised we even knew about it as the test was still in the research stage and he told us that most neurologists probably did not even know about this test since it was so new. Boston Children’s tested and ruled out Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorder (NMOSD) at the time. We then went home pending the anti-MOG antibody test which was sent to the Mayo Clinic, and weaned her off of the steroids over several weeks. She then relapsed almost immediately after coming off of the steroids in May of 2016 with Optic Neuritis only this time. She was then put on oral steroids to hold her off until a plan could be made and put into place.
Boston Children’s also asked us to continue with Children’s Hospital of Philadelphia as Dr. Brenda Banwell and her staff were the only notable doctors in the United States at the time who had treated MOG-AD pediatric patients and were familiar with MOG-AD as they were doing research at the time collecting samples. Dr. Gorman also reached out to several doctors in Germany, the UK, and Australia for additional discussions about MOG-AD as it was still so new, until we could get to Philadelphia.
After consultation by Boston Children’s, the decision was made to put my daughter on a treatment plan of IVIG infusions to see if this would help her. We were only about 2 weeks away from an appointment in Philadelphia and held off until we could see her, so she could do the treatment as our local doctors did not know how. She began treatment in August of 2016 at Children’s Hospital of Philadelphia and has continued with IVIG every 4 weeks since. She continues to receive treatment at the local hospital under the supervision of Philadelphia and Boston. We have been back and forth between Boston and Philadelphia now every 3 months alternating between the two for 2 years now.
My daughter has had 67 treatments as of this writing. She also had complications 6 times with the IVIG, 4 of the times ending up with a bad reaction called drug induced aseptic meningitis and the doctors up north began discussing possibly switching to chemotherapy type drugs. We held them off from switching her treatment for personal reasons and instead she stayed on the IVIG. She is still testing positive for MOG-AD and treatments will continue though they are no longer discussing chemotherapy as she has made such a great recovery with IVIG. In fact, the recovery has been incredible with no major symptoms noted even recovering fully from all previous paralysis, seizures, major behavioral changes and blindness, to name a few. She continues to have very mild chronic pain symptoms though they are becoming further apart with each treatment. Now, the pain is lasting only 1 or 2 hours instead of days and only happens once a month now if at all. We have also found things that trigger bad days, such as heat intolerance, and have done well to minimize triggers.
Today, Isabel is doing very well and is a spunky tween who loves to draw and play games. She is a courageous, brave, and determined girl, always facing her problems head-on without letting them break her. She loves to play violin and has a spirit that can’t be broken. Her brother Israel, who is an energetic teenager and loves to play games and his guitar, watches over her and protects her. He is a large, strong and smart lovable teddy bear who is always trying to look after and help as many people as possible. Since the start of her illness, all 4 of our family members have banded together to help Isabel and others who suffer with MOG and ADEM learn more about these diseases and help to further push research efforts. Through Isabel and Israel, we have learned to become, in their words, so much more. Our children have endured and continued to keep pushing forward without letting the disease break them down. Through them, we are inspired to push further and become more of what they need us to become to help them and make them grow into better individuals. We are proud of our incredibly close family who supports each other and loves to spend time together.
With our daughter almost passing and after being told that we did not know what we were talking about regarding her condition, we made a promise to ourselves that we would never be told that again when someone we loved had their life on the line. So, we began to learn everything we could about her MOG-AD diagnosis. We share this story to help others who have gone through this as well. We have participated in multiple studies and have shared much of the information we acquired throughout the years to help others. With knowledge of their conditions, people are able to become better advocates for themselves. We were invited to join an advocacy group for MOG-AD called The MOG Project as part of the pediatric advocacy. We have also joined the Siegel Rare Neuroimmune Association (SRNA) as advocates and peer support group leaders for Central Florida. We do this to help further the sharing of information and knowledge as well as helping those who are going through this and similar illnesses to know that they are not alone and we together as a community will help each other build towards a better future. You are not alone, we see you and we are here together. Do not give up hope and you are stronger than you imagine.
By Peter Fontanez
Hi Mr. and Mrs. Fontanez,
Isabel’s story is very similar to my story. I was six and diagnosed with ADEM and then diagnosed with childhood multiple sclerosis. I am 29 now and have not been on meds for 11 years and have not had any symptoms. I just found out this week that I am positive for anti-MOG. It is crazy that I went this long without knowing the actual diagnosis. I appreciate you putting Isabel’s story out there and allowing people to read it. As this is a rather new disease and is a new diagnosis for me I am unaware of a lot of information.