Things I get asked a lot
The choice of the zebra as a symbol for rare diseases has roots in an old adage used in medical schools: “When you hear hoofbeats, think of horses, not zebras.” Coined in the late 1940s by Dr. Theodore Woodward, a professor at the University of Maryland School of Medicine, this saying encouraged medical students to consider common ailments rather than rare ones. However, the rare disease community decided to embrace the zebra as a symbol of unity and resilience.
Rather than shying away from being labeled as “zebras”, individuals with rare diseases and their advocates took pride in the uniqueness of their conditions. The zebra transformed from a metaphorical representation of medical rarity to a powerful symbol of strength and community.
Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur. Symptoms usually become apparent during adulthood between 20 and 60 years of age. Aceruloplasminemia is caused by mutations of the ceruloplasmin (CP) gene.
So as Australia's leading expert on Aceruloplasminemia I need to share my knowledge. Basically, how Aceruloplasminemia is currently thought of is completely and utterly wrong. A normal persons body produces two types of Ceruloplasmin. One is Holoceruloplasmin and one is Apoceruloplasmin. The difference? Holoceruloplasmin is the protein that carries six copper atoms. Apoceruloplasmin is also generated when those copper atoms are removed, it 'expires' in hours versus the days that Holoceruloplasmin takes to degrade.
Unfortunately due to having a pathogenic (disease causing) mutation in my CP gene I am producing defective Holoceruloplasmin which cannot carry copper. This means that the iron conversion from Fe 2+ to Fe 3+ fails, hence the iron buildup in all of my organs.
The problems? Laboratory equipment generally cannot differentiate between the two different types of Ceruloplasmin. So people who have some levels of Ceruloplasmin in their blood are currently thought not to be affected so further investigation is generally excluded. When in actual fact, MRI's to find iron deposits in the brain should be the absolute first diagnostic tool used in conjunction with a clinical examination to firmly establish neurological symptoms. A gene test should then be conducted to check for any mutations. (Even a benign result should be considered pathogenic if neurological symptoms are present, particularly in conjunction with a positive MRI)
Even with a mutation or two a persons body will still generate Ceruloplasmin. One mutation affects the protein enough where it cannot carry essential copper. Two mutations affects the protein enough where it's not recognised by laboratory equipment.
Hermansky-Pudlak syndrome (HPS) is a rare, hereditary disorder that consists of decreased pigmentation (albinism) with visual impairment, and blood platelet dysfunction with prolonged bleeding. Some individuals have lung fibrosis, inflammatory bowel disease, immunodeficiency or an abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body.
Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment in specialized cells called melanocytes. Absent or insufficient melanin pigment results in abnormal development of the eyes, resulting in vision abnormalities, and light skin that is very susceptible to damage from the sun including skin cancer. Visual changes include nystagmus (involuntary side to side eye movement), strabismus and photophobia (sensitivity to light). Other changes include foveal hypoplasia (which affects visual acuity) and mis-routing of the optic nerves. All individuals with OCA have the above visual changes but the amount of skin, hair and iris pigment can vary depending on the gene (or type of OCA) and mutation involved.
Episodic Ataxia 2 mimics Spinocerebellar Ataxia 6 without the addition of dysphagia (inability to swallow). It comes and goes with attacks lasting hours. The only way to tell the difference is a PCR expansion test (in my case).
The hereditary ataxias are a group of neurological disorders (ataxias) of varying degrees of rarity that are inherited, in contrast to a related group of neurological disorders that are acquired through accidents, injuries, or other external agents. The hereditary ataxias are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk (gait) accompanied often by poor eye-hand coordination and abnormal speech (dysarthria). Hereditary ataxia in one or another of its forms may present at almost any time between infancy and adulthood.
Post-traumatic stress disorder (PTSD) is a mental health problem that can develop after experiencing a traumatic event. The event may have threatened your life or safety, or you may have witnessed a serious accident, assault or natural disaster. In PTSD, symptoms of fear and distress continue to affect you long after the traumatic event.
Complex PTSD (sometimes abbreviated to c-PTSD or CPTSD) is a type of PTSD. It can affect people who have experienced prolonged or repeated trauma, such as child abuse or torture.
Pitt-Hopkins Syndrome (PTHS) is a rare, genetic, neurological disorder. Affected children have distinctive facial features and experience intellectual disability, delays in reaching developmental milestones, impaired ability to speak, and can have recurrent seizures and breathing pattern abnormalities. Additional symptoms that can occur include poor coordination (ataxia), repetitive nonfunctional hand movements, constipation, sleep disturbances and severe nearsightedness (myopia). Behavioral abnormalities are common, although children are often described as social and having happy dispositions. Some affected children meet the criteria for an autism spectrum disorder. The specific signs and symptoms of the disorder and their severity can vary from one child to another.
So to start off with, I borrowed the description for Pitt-Hopkins Syndrome instead of Pitt-Hopkins Like Syndrome 1. The reason for this is PHSL1 is meant to mimic PTHS but is just caused by a different gene.
There are a few variables involved including a somewhat lessened strength if you like, but it's still equally devastating. I'd rather not get into my individual symptoms as such but just know this, how I got away with it I'll never know. It's a bit of a 'light bulb' moment to be honest but the intellectual impairment? I'm not sure how that works precisely in all honesty. I mean... look at me! I'm solving child abductions, murders, burglaries, stolen vehicles. As well as successfully diagnosing myself with some of the world's rarest diseases. I don't seem that impaired!
Just remember, there are less than 30 individuals ever diagnosed with PHLS1 in history! Probably closer to 20 from what I can gather! Not to mention out of the entire group I am one of the oldest known sufferers in the world! There are less than 20 out of 1600 out of the whole entire Pitt Hopkins group my age or older!
Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
My identity will be revealed in time. But for now I just want to remain the unknown.
I needed a mobility scooter due to my balance issues. While the Teverun Tetra isn't aimed at the disability market it was more than suitable for my specific needs. I have used it to aid in the detection and prosecution of multiple, often serious criminal offences. It's the right tool for the job. It's also easier for myself to find parts and repair versus other scooters.
Specs?
200km's battery range! It's closer to 80-120km's but is easily twice that of any other scooter on the market. This is highly important because of the work I do.
Speed? Factory rated to 55km/ph and can be modified to 110km/ph. I have wound it out to 67km/ph in pursuit of a stolen vehicle to obtain plates and other details to help units in the area locate the vehicle and assist in the investigation and prosecution of the offenders.
Weight? Supposedly 82+7kg seat, roughly half the weight of any other mobility scooter on the market.
Price? $6500. This is roughly market average for a mobility scooter with a lot less features.
Limiter? I can adjust the limiter between 6km/ph and unlimited. It has a pedestrian mode which I engage 100% of the time in various places like shopping centres, theme parks etc. This limiter has a MAXIMUM speed of 6km/ph but is closer to 4km/ph based on pedestrian movements. SAFETY FIRST!
Why the helmet? Why not? A helmet does not imply speed but safety. I've read one too many reports where users of mobility scooters have been struck by vehicles and have passed away as a result. It probably won't save me but it's better than nothing! TBI's are forever!
Why the jealousy? I am just trying to make the best of a horrible situation. Why be jealous of someone's disability/mobility aid? Yes, I know it's awesome but that's why I picked it! If you've got to buy something then buy the best you can. It's no fun otherwise!
Why the registration? This comes with a free CTP/injury policy provided for by the Queensland Nominal Defendant. It also means that the vehicle is recognised as a mobility aid and not as a regular scooter. This comes with various protections under state and federal anti-discrimination legislation.
Can anyone register their scooter? No... while I wasn't asked for much proof I am still able to provide a phenomenal amount of medical evidence if/when required. Due to my 'history' and medical issues I was granted special permission to register it as a mobility scooter. This does not apply to an ordinary person.
Wouldn't you be after being mis-diagnosed, mistreated and told 'it's all in your head' by over 100 doctors over the course of 38 years? The only reason why I was able to work out what was wrong with me is because I used every single last day of the 12 years of law enforcement training I have to conduct an incredibly thorough and unbiased investigation into my own health! A position no one should be forced into!
To put it into layman's terms, it's like having 10 different types of drinks in a fridge with the labels removed... and they are all cola's.
Essentially I was absolutely correct except for one minor detail of all my diseases. I've traded one ultra-rare disease for one that's even rarer still! Some of them would have been easier to confirm if I didn't have another one that presents with exactly the same clinical symptoms. This is why specific testing when I have been able to get a referral has been so absolutely crucial to arriving at the correct diagnosis.
I am absolutely happy with the final list but will update it if more evidence comes to light (which any good investigator should do). Essentially it comes down to making highly educated guesses based on incomplete data! With less than 10 persons diagnosed with some of them, there is absolutely nothing out there. It's all just educated guesswork to a point!
I completely understand you are a business but there are some things that would be nice if offered outside the usual.
Example? Granting free entry to a business, a hotel, a theme park etc. This does not incur any cost to you because you would have the same operating expenses if I didn't enter. It would allow myself to observe and relax or participate in activities I couldn't afford to do. In return you will have a highly trained law enforcement and risk expert willing to go through your business and identify any potential hazards, risks and who will also step in and take steps to notify you and respond to any incidents that may occur, often before they 'kick off' and hey... what better way to advertise your business as progressive than by having someone with some of the world's rarest medical issues/disabilities visit!
Example? Offering myself a free coffee or other small cost item. I'm happy to pull it apart for you if you want! I can offer input and techniques including how to properly set and adjust a grind, tamp pressure, water temperature etc. You'd be trading a small product cost for input into improving your product.
Example? Offering myself an insight into your business. I cannot count the amount of times I have provided advice which has or could have saved a business from making a critical mistake. Or I've been told about an expensive product and straight away, off the top of my head I've been able to refer that business to a supplier reducing product cost but not quality, sometimes by 80% or more.
It's not about what I can get for free but ways I can help you with your business. Critical thinking is one skill highly praised in law enforcement and despite the dementia I'd like to think I have still 'got it'.
Because it helps with the stress and the C-PTSD. The darker your experiences the darker your music tends to be. Music is a big part of my life due to using it to express my experiences. It's kind of like an 'exposure therapy' if you will. I'm happy to share my tastes to give you an insight into what it's like being inside the brain of a zebra.
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