Jul 11, 2019 Latest post:
Sep 30, 2021
My name is Marissa and I am Micah’s mom. My husband, Matt, and I began what is called a diagnostic odyssey (meaning a search for a diagnosis) for our son Micah on July 7th, 2019.
This all started when we noticed what was at the time a slight right sided weakness in Micah, affecting his leg/gait, his right hand, and the side of his mouth on the right side. We went to the ER in Fargo, ND, on July 7th, 2019, and were transferred to the Sanford Children’s Hospital in Sioux Falls, SD the next day. The first treatment that was tried in Sioux Falls and seemed to help Micah partially improve at first, along with starting physical, occupational, and speech therapy, was an infusion of IVIg and high dose steroids. In the setting of illness, though, when Micah contracted campylobacter in August 2019, despite treatments of steroids and antibiotics, all of the progress towards recovery that was made in July 2019 disappeared unfortunately, and it has not returned since then despite everything that has been tried.
We started doctoring with the Mayo Clinic at their earliest opening in September 2019 and by then we could tell it was affecting his left side as well (not just his right side). This disease has since affected nearly every aspect of Micah’s life, from communication-making his speech difficult for others to understand, affecting his balance at times, and affecting him physically-causing weakness in his body, such as grasp strength/fine motor issues in his hands, causing pronation in his ankles for which he has AFOs, and affecting his reflexes, including but not limited to those involved in swallowing, so he is on nectar thickened liquids.
In late November 2019, a 3 month trial of infusions of IVIg and high dose steroids was started every 3-4 weeks to see how he would respond. We didn’t see much lasting discernible improvement over that time but we noticed steep declines starting any time the treatments were farther apart than about 3 weeks. So we continued to get IVIg and steroids infusions for Micah every three weeks as they seemed to stabilize his condition at least somewhat in the beginning. He received those until he began to taper off of them in the summer of 2021 when it was becoming clear they were no longer helping him and were causing him some negative side effects. He received them every three weeks for about 18 months.
The presentation of this was not consistent with any disease seen by any doctor along the way, so from pretty early on we’ve been told this will be something rare or something that is presenting in a very atypical way. We have had several possible diagnoses along the way, which were later rescinded-we were told he could possibly have Rasmussen’s encephalitis in July of 2019 at Sanford Children’s Hospital in SD-this was later ruled out & there was also a misdiagnosis of a resolved spinal epidural abscess in September 2019 at Mayo. We were told he could possibly have post infectious autoimmune neuropathy/encephalopathy at Mayo in November 2019 for which we did a 3 month trial of intravenous immunoglobulins (IVIg) and steroid treatments but there was not a lot of lasting response by the end of the trial, thus ruling this out. Some improvement was noted after 5 continuous days of IVIg and steroids while inpatient at Mayo in March 2020, though. We, along with his medical team, decided to try the next more aggressive tier of treatment so he received Rituximab in March 2020, which is a drug used for certain cancers and autoimmune conditions. We didn’t notice changes for the better afterwards unfortunately from that. In May of 2020 he had a port implanted in the right side of his chest due to his severe anxiety surrounding IV placement at that point. In January 2021, he started on anti-seizure medications to see if they would lower the amount of pre-seizure discharges on his EEGs. He has not had a seizure that we know of, nor has one ever been captured on any of his numerous EEGs.
Micah has had hundreds of tests and imaging since his health issues began: * Multiple repeat MRIs of his brain, brain stem, and the entire length of his spine, all clear * Magnetic resonance venogram (MRV) of his brain, a magnetic resonance angiogram (MRA) of his brain, and a magnetic resonance spectroscopy of his brain, all clear * Electromyogram (EMG), normal * countless blood and spinal fluid tests, nearly every one of them normal * neurotransmitter profiles, normal * Micah’s Trio whole mitochondrial plus whole exome sequencing of his DNA revealed that he is a carrier for 3 rare genetic diseases. Fulgent Genetics Single Gene Deletion/Duplication tests have been performed on two of those genes and no other genetic variations in them have been found and so far he has only been identified as being a carrier for both. The third mutation is a very common one in the general population so not likely to be a cause. Chromosomal microarray analysis was normal for him. Last fall, a company performed trio Whole Genome Sequencing for Micah as well, which is the highest level of genetic testing available with current technology, and no additional answers were identified from that.
Abnormal Test Results • He has had positive but low titers of autoimmune antibodies in his blood for CASPR2 and GAD65 (but they do not believe them to be high enough titers to be the main cause, they believe that they are a marker of inflammation that we don’t know the cause of yet). These two in combination together occurring in pediatrics are exceptionally rare according to both the Mayo Clinic and Children’s Hospital of Philadelphia. • Abnormal EEGs-Epileptiform discharges on the left temporal lobe of his brain have been seen on multiple EEGs. • Atrophy of his muscles was found from his muscle biopsy, but no clear explanation of why that is happening was found. His fibroblast culture was normal. • Leukodystrophy Center for Excellence at Children’s Hospital of Philadelphia (CHOP) did 3 separate inflammatory blood tests (only available on a research basis at this time-interferon blood tests) and they all came back elevated for Micah.
We were referred to the Undiagnosed Diseases Network (UDN) in 2020 by his neurologist at Mayo Clinic and he was accepted into the UDN at Vanderbilt in May 2020 and their research teams are currently working on combing through his whole genome sequencing raw data there which was started in October of 2020 but unfortunately due to COVID-19, the time frame for finishing that testing had to be extended.
Micah has been doing speech, occupational, and physical therapy appointments every week locally since his health issues started in July 2019. We still doctor through the Mayo Clinic in Rochester, MN and doctor locally through Sanford Health in Fargo when we can.
Micah has had countless doctor appointments, tests and imaging, hospitalizations, treatments, and therapy appointments. He is truly one of a kind and has touched countless people’s hearts along the way with his kindness, spirit, and determination.
We will continue to advocate for him and we will remain hopeful in our search for a diagnosis for Micah and our family as we continue to navigate this very challenging situation which has now continued for over two years. We are using our CaringBridge website to keep family and friends updated in one place. We appreciate your support, words of hope, and prayers & thank you for stopping by.