When it comes to healthcare, we all hope that if we get sick, the doctors will do their best to help us, and if our condition is unusual or rare, they will investigate the cause or our illnesses and provide the proper treatment. Unfortunately, in many cases, patients do not receive the care they need. In best case scenario, it happens because doctors are not informed about certain conditions, and, in worst case scenario, because they are unwilling to investigate or due to medical negligence. For people with pre-existent disabilities, the possibility of being medically mistreated is even higher.
You may have already read about our younger son in the “Help us to fix our house or move” article. If you have, you know that he was tested positive for lead poisoning. This situation was only the beginning of a long journey of battling health related issues.
About a year after the poisoning, our family doctor raised some concerns about our son’s development and soon after that a clinical psychologist from a local hospital diagnosed him with Autism. Our son was two years old at the time. He did not speak. Now, seven years later, he is still non-verbal and is suspected to have Apraxia of speech.
Until one Summer day in 2015, our son was a happy child, who enjoyed outdoors, traveling, active games, who loved going to school and meeting new people. Despite the challenges associated with Autism, our son was a cheerful, friendly and lively kid. Then, within a few days, our world turned upside down. Our son developed an infection of unknown origin, and days later his behavior drastically changed. Our boy started hitting his head on hard surfaces. He appeared depressed. He lost his appetite and developed OCD-like symptoms. Our son had to follow specific patterns during walking, placed objects in particular spots and wouldn’t let anybody move them, then he stopped eating and barely drunk anything. Initially, after the symptoms developed, he got better, and I hoped it was nothing serious. But soon the symptoms returned.
It was the end of August, and our son went back to school. He was getting sick on and off all through out the Fall and Winter. Our boy had strep throat twice in 2 months, and other infections. The new terrifying symptoms kept returning. We could not figure out what was causing the health issues. The symptoms did not seem to follow any pattern, even though it appeared that they came back after infections. Teachers at our son's school were shocked to see the change: our son transformed from a joyful, silly kid into a child impossible to control. The symptoms started getting worse. He developed severe separation anxiety. I could not leave him for more than a few minutes. When I left him alone for a longer period, he would hit his head and break walls. It would take him a minute to make a hole in a wall (our little boy had always been very strong).
We did see a few doctors, but nobody could tell us anything. At school, I had to face the officials, who recommended to move our son to a therapeutic school, because the public school could not accommodate him. Our boy had been a very healthy eater before the symptoms started, he loved fruits, vegetables, and chicken. Soon after the symptoms began, he refused to eat and lost a lot of weight very quickly. Periodically he would get better and then get worse again.
I did not know which doctor we should see. Our primary doctor at the time suggested seeing a neurologist and a gastroenterologist. We made appointments with both. We did have to wait for about two months before we could see them. At that time, there was only one pediatric neurologist in our area.
One day, our son's condition seemed to be getting worse. I decided that I had enough of waiting, and with the absence of other options, I took him to the ER at the same hospital, where the neurologist and gastroenterologist worked.
I would like to mention something before I continue, you will see why it is important later. Right after our boy’s Autism evaluation, we saw a different neurologist (he left, and a new neurologist replaced him.) The doctor ordered some blood work and an MRI. The MRI was normal. As for the bloodwork, the doctor never showed it to us and reassured it was normal as well.
Now, back to the story. We came to the ER. I explained what was going on with our son. The nurses took his vitals and asked us to wait. We waited for about 4 hours; then we finally saw the doctor. Right away the ER doctor told us that he was not sure how to help us. Our son's situation did not seem to be a medical emergency. He did not show any symptoms of an ongoing infection or had anything that the doctor could treat at the hospital. I was disappointed, but not surprised. I had a history of being misdiagnosed by several doctors and knew medical professionals could not know everything. Out of desperation, I started throwing ideas at the physician. I did not know what it could be, so I just mentioned whatever popped into my mind. I asked if an increased intracranial pressure could cause our son’s symptoms. The doctor replied that they did not have enough evidence to do the spinal test. I mentioned that they could perform dilated eye exam (I had the condition when I was a kid and knew what methods medical professionals might use to diagnose it.) The doctor said they did not have the equipment to perform the test. To me, it seemed laughable: how come that one of the best hospitals in the state did not have the equipment to do the test? But I let it go. I asked if it was possible, that a migraine caused my boy’s problems. That theory seemed appealing to the physician. He asked if we saw a neurologist. I answered that we still had to wait for pretty long time to see her. He called her and asked for advice. She prescribed Topomax and also was able to order a new MRI.
We went home with a prescription that my son probably did not need and no answers. I promised myself to never go to ER again.
During the upcoming months, we did the MRI. We also visited the neurologist and the gastroenterologist. Our son refused to take the Topamax. The MRI was normal. Most of the tests that gastroenterologist ordered were normal (the doctor did not mention the positive results or provided copies of the blood work, so we did not know about them until years later.) My son underwent the gut cleansing treatment, the GI suggested. After that I could not see how else the doctor could help us, so we did not visit him after the second time.
The neurologist’s appointment was as disheartening as any other visits we had. The doctor expressed an opinion that all the symptoms were Autism-related and that our son would benefit from ABA therapy. When I asked if there was any other possibility, any other reason behind my boy’s symptoms, the doctor replied that it was not very likely. She did diagnose him with a migraine and prescribed a nasal spray to replace Topamax.
When we left the hospital, I felt angry and hopeless. At that moment I did not believe that there was one doctor who could help us, who could take time and would be willing to search for the real cause of our son’s symptoms.
I turned to google, just like many misdiagnosed people do. I typed “sudden onset of OCD” and, right away, saw a link leading to the PANDAS network website. I had never heard about PANDAS (Pediatric Autoimmune Neuropsychiatric Disorder Associated with Strep) before. When I read about the symptoms, I was shocked. They seemed exactly like the ones our son had.
I messaged our primary physician at that time and asked her about PANDAS. She did not know what it was but was willing to research. After learning about the condition, she ordered blood work suggested by the PANDAS network. But, unfortunately, the tests came back negative. The family doctor said, that, because the tests were negative, it was not very likely that our son had PANDAS. She advised to go and see the neurologist again.
Instead of seeing the neurologist, I went back to the PANDAS network website and found a recommended physician in our state. In a few months, we saw the doctor.
During the time of waiting, more and more holes appeared on the walls, but, thankfully, our son’s appetite got better.
The recommended doctor ordered more blood tests. They also came back negative. The doctor said that our son may still have PANDAS even with negative results. The physician advised taking antibiotics for a few weeks and then steroids. Our boy appeared to be getting better, but the improvement was not drastic. The doctor suggested considering an IVIG treatment.
At that time, I started doubting whether our son had PANDAS at all. I wondered if it could be something else and decided to contact the Undiagnosed Diseases Network, hoping they would take our case. It took four months to receive a final reply from them. It took so long because the UDN failed to notify us twice about additional paperwork needed. In the end, they denied our case, saying that they could not help us. It was hard to believe, but I had no choice and accepted the negative reply.
During that time, my son also developed severe sleeping problems. Our family doctor stopped practicing, so we found a new one. The new doctor was very enthusiastic about the investigation of the actual causes of our son’s condition but did not feel confident to do it himself. He prescribed a few medications to try to help our son sleep better. The 3dr medication did the charm, and, after more than a year of poor sleep, our son was resting again.
While we were waiting for the response from UDN, we had another shock waiting for us: a call from DCFS. They received an anonymous call. The caller was accusing us of medical negligence. I was furious. While we were desperately looking for answers, someone decided they knew better what our son needed. I saw the investigator and explained the situation. He quickly agreed that the accusation was false, but it took another few months for the officials to close the case. The DCFS employee mentioned the information provided by the caller. Based on the data provided, I figured out that the caller must have worked at our son’s school and had to be present at his IEP meeting (I discussed that particular information only with educators, the therapeutic and medical staff.) Later when I had more evidence to confirm my fears. My first reaction was to file a lawsuit and accuse the person in retaliation and providing false information to DCFS. But I was concerned that it would be too expensive and difficult to win. And, just like with our home situation, we decided to forgive and forget. I do still feel upset about it and want the person come forward and apologize.
By the beginning of 2017, we were still clueless. Our son had seen doctors at the urgent care several times. Even though we did not know for sure what illness our child had, I mentioned PANDAS a few times. None of the doctors we saw knew about the condition and had to look it up. Thankfully they were compassionate and understanding, but none of them were in the position to investigate further.
Our new family physician suggested seeing a psychiatrist. I went back to the PANDAS network website, hoping to find a name of a psychiatrist there. The only other doctor (besides the one we saw in 2016), knowledgeable in PANDAS and similar conditions in our state, was, indeed, a psychiatrist. We made an appointment and, a few months later, we came to his office.
The doctor was surprised to see how many professionals were not able to do anything for our son. He ordered more blood tests. He also wanted to see any old blood work we had. When I prepared documents for UDN, I went to the earlier mentioned hospital and requested medical notes. I also printed out the bloodwork ordered by the 1st neurologist (the one we saw right after Autism diagnosis.) I never looked at the bloodwork, because at the time when it was taken, our child did not have all the symptoms. Plus the neurologist never mentioned that something was wrong. The psychiatrist looked at the old blood work and pointed out that several items were out of range. When I looked through all the tests ordered by the 1st neurologist, I was shocked to find out that about 50% of results were out of range.
The results showed that my son had an immune deficiency and, possibly, an ongoing infection. The new blood work, requested by the psychiatrist, also showed immune deficiency and other issues. The last set of tests revealed that our son might have a chronic Lyme disease. The results did not eliminate a possibility of additional infections that were affecting his immune system and the brain. Right now (written on 09/04/2017) our son is taking two types of antibiotics under the psychiatrist’s supervision. We will continue the treatment and investigation under the guidance of this doctor. I would post updates on soulbattles tumblr blog.
Our son will most likely require additional tests. He may still need IVIG, but at this moment we will be trying to treat him with medications.
Chronic Lyme disease is challenging to treat. Prompt diagnosis is essential; it improves the outcome drastically. Unfortunately, when the disease turns chronic, it becomes increasingly harder to manage. Our son did not have the traditional rash associated with Lyme infection. A tremendous amount of people does not have the rash and can go undiagnosed for many years. Many doctors are unaware of the broad range of Lyme disease symptoms, some of them can look similar to other illnesses. What is unfortunate that many doctors do not even try to find out the cause of a condition. They dismiss vague symptoms as something unimportant. And when it comes to people with Autism, there seems to be no hope to receive a proper treatment at all.
I am happy that we found a doctor that is different from many others, and that our son may finally get better. But I do expect the journey towards the recovery to be a long and expensive one.
After completing Cunningham panel, we had to step away from the Lyme disease theory. We are back to PANDAS/ PANS. The symptoms A. has are more consistent with PANDAS/ PANS but, based on the previous positive blood tests results and on the fact that Lyme disease can affect the whole body, the doctor considered Lyme diagnosis. We have completed IGenX test for Lyme, which was inconclusive. Then we have completed Armin test, which was negative. Cunningham panel showed a positive result, which may indicate PANDAS or PANS. We will still have to follow up with the doctor to review the next step.
What a journey had it been! It the end of 2017 my son’s treating doctor sent an authorization request to receive IVIG treatment. Initially, we were approved, but the company which was supposed to perform the treatment could not find a nurse in our area. We decided to try to get the treatment approval through our pharmacy (since we get medication coverage through CVS.) I called CVS, and they assured me the could cover the IVIG treatment, but after receiving the doctor's request denied us. We were trying to get approval for PANDAS diagnosis. We decided not to complain and called out medical insurance company instead. They told us to get a new approval (since the old one expired.) The company that could not find a nurse now had a nurse for us. So the doctor sent another request to the medical insurance company and got a denial. Nobody could explain why they approved us first and then denied. The medical insurance company asked for additional information, if they did not receive the data on time, they simply denied again. Where are we now? It is getting harder to communicate with the doctor’s office, and the insurance company claims the office does not return their calls. On September the 6th, our son got his tonsils and adenoids removed due to chronic inflammation and recurrent strep infections. A week after the surgery A’s mood changed drastically. It seemed he was back to his happy normal. We could not believe what we were seeing. Unfortunately, something happened: possible a new infection or some leftover reaction to an old one. He started showing old symptoms again (OCD, depression, lack of appetite. But the symptoms were not severe and not constant. Plus it also seemed A. experienced pain (I’m not sure where.) So what now? The insurance company has a new IVIG request in their files. The doctor’s assistant sent it before the surgery. We do not have a response from them yet. I am planning to move away from the treating doctor and see a rheumatologist with a new group of specialists (unless A. improves entirely.) The treating doctor has done a tremendous job but, I found his office staff and other medical professionals on the team to be a little sloppy, which is not only annoying but also caused us to waste time and money. One more thing, we also saw an immunologist. A. has a selective IgM deficiency. “Immunoglobulin M (IgM) provides the initial response to foreign antigen and plays a regulatory role in subsequent immune response development, accelerating the production of high-affinity IgG. Though selective IgM deficiency was described more than 45 years ago in children with fulminant meningococcal septicemia, it has been largely an ignored primary immunodeficiency. It appears to be more common than originally realized. Selective IgM deficiency is observed in both children and adults with no gender bias. The most common clinical manifestation of selective IgM deficiency is infections with extracellular and intracellular bacteria, viruses, and fungi. Allergic diatheses are the second commonest presentation of selective IgM deficiency. There is an increased prevalence of autoimmune diseases, which in both humans and mice appear to be secondary to selective IgM deficiency rather IgM deficiency secondary to autoimmune diseases.” (source: ncbi.nlm.nih.gov)
I am working on building my business right now. I am an artist and a designer. It is hard for creative people to establish an income-bringing self-employment. I am making the business from scratch with virtually no investment. It may seem unrealistic, but I have faith I can succeed.
Every time you buy my products or donate, you not only help me as a creative entrepreneur but also impact our future living situation and help us to pay for our son’s medical treatment and investigation. (Please read about the house troubles here.)
Liudmila Maksimovskaya NIKOXXII