A major breakthrough came in the recent months, mainly due to several (until recently) strangers, with whom close contact has arisen during the search for a diagnosis: parents of children with similar problems, who recognized the situation and Hugo’s very serious symptoms. A decade after the first symptoms showed, the right diagnoses have finally and officially been made: very severe M.E., brain stem compression (CCI/AAI), POTS, Chronic Lyme Disease (MSIDS), and reduced cerebral circulation (blood and oxygen to the brain).
MECHANICAL ISSUES (CCI/AAI)
Hugo was clearly meeting the criteria for a structural/mechanical diagnose, but in order to make a correct diagnose, an upright MRI scan had to be made in London, because such a device is (no longer) available in the Netherlands. March 2019 Hugo has been transported from Amsterdam to London per ambulance, a life-threatening journey in Hugo’s state.
The full medical report and the diagnose were very clear: Hugo has been diagnosed with CCI (cranio-cervial instability) and AAI (atlanto-axial instability) with subluxations, as a result of a hypermobility spectrum disorder (HSD), together with clear signs of brainstem compression (the master regulator of the autonomic nervous system and also responsible for immune functioning) and possible spinal cord issues.
The treatment and also the final option when nothing else work: a complete fusion of his neck vertebrae. For this possible life-saving treatment, further examinations are needed at the hospital in Barcelona, with a top-level and very specialized spine- and neurosurgeon. The surgery itself costs around tens of thousands of euros and is not covered by insurance. At this moment Hugo’s state is too bad and fragile to be even transported by ambulance. But, there might be hope for Hugo to be able to continue this process in The Netherlands (fully covered by insurance) in the future, because the very successful results achieved with other fellow patients have triggered the interest of various Dutch doctors and neurosurgeons.
M.E., POTS & DECREASED CEREBRAL BLOOD/OXYGEN FLOW
Around the same time as the MRI examination, Hugo visited two specialized cardiologists in the Netherlands, they diagnosed Hugo with very severe M.E., POTS and reduced cerebral blood flow (blood and oxygen to the brain).
Myalgic Encephalomyelitis (M.E.) is a complex and debilitating multisystemic disease that dysregulates the autonomic nervous system, it is also called a neuro-endocrine-immune-disease. This leads to far-reaching functional physical and cognitive limitations, together with a pathological level of extreme fatigue (complete exhaustion) and sensory overstimulation. The Health Council of the Netherlands stated that 10% or less of patients with M.E. recovers spontaneously in such a way that they are able to function as before. However, in patients both in The Netherlands and abroad, with the same disease profile as Hugo, and who have already undergone the CCI/AAI surgery, their M.E. (including POTS) in remission.
Postural orthostatic tachycardia syndrome (POTS) is a chronic condition in which your heart rate rises and blood pressure lowers dramatically when you move from a laying to a sitting or standing position. It is a form of orthostatic intolerance, literally the intolerance to be upright. Symptoms such as dizziness, light-headedness, brainfog, weakness and blurred vision occur. Your heart reacts like you are performing top sport, while you actually only move from a lying to a sitting position. The cause is not the function of the heart itself, but the dysfunction of the (autonomic) nerves.
ME is characterized by PEM: post-exertional malaise, which means exertion intolerance. This means that after any form of (minimal) physical, cognitive or emotional exertion, there is a severe worsening of symptoms and reduction in functioning, with flu-like "flare-ups", also called a crash, with very slow and almost zero recovery.
When talking about exertion and “activity”, you should think of going to the toilet (lying in bed with an urinal bottle), eating small bits of food, formulating a few sentences, dealing with emotions such as fear and grief for the life that has been lost, or getting an IV needle. They all cause a crash. But you can also get light- or noise related crashes after being exposed to bright light or ongoing noise, such as a toilet flushing or a doorbell ringing. Hugo even crashes from rolling over in bed. Misleadingly the ramp-up in symptoms is often delayed, and kicks in one or two days after the “activity’ but then can last weeks of even months. Once in a PEM-crash the sensory intolerance increases even further, and every form of sound, light, contact, radiation (EMF) or touch are an assault on the entire system.
It is expected and researched that exertion intolerance in people with ME is due to poor blood flow (and thus low oxygen) to the brain, in spite of normal oxygen saturation. The doctors have examined that Hugo’s bloodflow is reduced by 27% when he is sitting upright. The standing tests could not be done due to Hugo 's weak state, but it’s expected that there will be a reduced blood flow between 30-40%.
Low blood flow to the brain cause a range of neurocognitive symptoms and vertigo/dizziness, which can lead to fainting when getting upright. There is no clear explanation at this moment for abnormal blood flow, but it is often seen in ME-patients, and it is suspected by doctors that nerve compression/tension/deformation/strain can cause low blood flow, as the nerves are involved in the blood supply to the brain. It gives clear signs for impaired autonomic regulation.
The disruption of the autonomic nervous system has greatly impacted and compressed Hugo 's immune system over the years. Hugo thought to have found all the answers at the end of 2017 with the diagnosis of late stage chronic lyme disease, and traveled to Germany with the help of a crowdfunding campaign for a bone marrow stemcell surgery. Now this appears to be 'only' a consequence of much larger underlying issues. The stemcell surgery never took place as it had to be aborted prematurely, due to Hugo being in a state too bad and too fragile for any treatment.
The search for answers for his immune problems has continued and Hugo ended up having consultations with Dr. R. Horowitz, MD. Dr. Horowitz is one of the world’s most prominent LLMD’s (Lyme Literate Medical Doctors), as well as one of the founders of the international ILADS guidelines (The International Lyme and Associated Diseases Society). He wrote two best-selling books about treating chronic Lyme disease and co-infections, trained many Lyme-therapists over the world, and treated more than 13,000 Lyme patients. Also is he counselor to the US Congress on how to achieve better healthcare for Lyme-patients.
This doctor has again diagnosed Hugo with MSIDS (Multiple Systemic Infectious Disease Syndrome) and together with Hugo his Dutch LLMD a treatment had started. "Hugo is in a life-threatening situation", is what he said. Hugo's body still appears to be weak and sensitive for any form of treatment (and the additional temporary increase in symptoms) and an opening has not been found yet.
Next to Dr. Horowitz, Hugo his German stem cell doctor is still involved in Hugo’s process and is appalled by the state of affairs within The Dutch health care system.