Category: Rare Disease

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The Realities of Living with Chiari Malformations (Chiari Awareness Month)

September is Chiari (pronounced kee-AH-ree) Malformation awareness month. Chiari Malformations are structural abnormalities of the cerebellum, the part of your brain that controls muscular movements such as coordination, posture, balance, and speech; as well as the spinal cord. Chiari Awareness Month aims to raise awareness about the chronic symptoms those with the conditions often experience. One commonly experienced symptom by those with Chiari Malformation is chronic, debilitating head and neck pain.  

September is Chiari (pronounced kee-AH-ree) Malformation awareness month. Chiari Malformations are structural abnormalities of the cerebellum, the part of your brain that controls muscular movements such as coordination, posture, balance, and speech; as well as the spinal cord.

Chiari Malformation is not very common, however, it is being diagnosed at a higher rate than previously due to the increasing use of modern imaging diagnostic tests. According to WebMD, Chiari Malformations are more likely to affect females than males. Due to some people never developing symptoms as a result of this condition, it is impossible to estimate exactly how many people have Chiari Malformation. 

Symptoms of Chiari Malformation

Some people with Chiari Malformations experience no symptoms, however, others may experience chronic symptoms including:

  • Weakness in muscles
  • Vison issues
  • Hearing problems (including tinnitus) 
  • Vomiting 
  • Headaches
  • Neck pain
  • Dizziness
  • Difficulty swallowing or speaking
  • Balance and coordination issues
  • Numbness
One commonly experienced symptom by those with Chiari Malformation is chronic, debilitating head and neck pain.

The symptoms can vary based on the type and severity of the Chiari Malformation. 

Types of Chiari Malformation

There are four types of Chiari Malformations:

Type I is the most common type found in children. This occurs when the cerebellum extends into the foramen magnum, which is the opening at the base of the skull. Normally only the spinal cord passes through this opening. Type I is the only type of Chiari Malformation that can be acquired after birth, however, it is also possible to be born with this type of Chiari Malformation. Type I can be acquired through injury, infection, or harmful substances, due to the resulting excessive draining of spinal fluid. However, this isn’t as common as congenital Type I Chiari Malformation, which occurs during fetal development. The causes of congenital Type I Chiari Malformations are not yet fully understood. 

Type II is normally only seen in children with spina bifida. Type II is known as the “classic” Chiari Malformation. Type II Chiari Malformation occurs when both the cerebellum and the brain stem extend into the foramen magnum. This is often diagnosed during pregnancy through ultrasounds, though it can also be diagnosed after birth in early infancy. 

Type III is the most serious type of Chiari Malformation, as it has a higher mortality rate. Type III is also a rare type. Type III Chiari Malformation occurs when some of the cerebellum and the brain stem stick out through an abnormal opening at the back of the skull. This type of Chiari Malformation can cause life-threatening complications, as well as possible neurological issues. Seizures can also occur with this type of Chiari Malformation.

Type IV occurs when the cerebellum is either underdeveloped or incomplete. Parts of the skull and spinal cord may also be visible. This is another rar

Type IV occurs when the cerebellum is either underdeveloped or incomplete. Parts of the skull and spinal cord may also be visible. This is another rare form of Chiari Malformation. 

Conditions associated with Chiari Malformations

Hydrocephalus is an excessive build-up of cerebrospinal fluid (CFS) in the brain. This can be caused by a Chiari Malformation blocking the normal flow of this fluid. This can cause pressure within the head that can lead to defects, including an enlarged or misshapen skull. If left untreated, this can become fatal. Hydrocephalus can occur with any type of Chiari Malformation, but most commonly occurs with Type II. 

Spina bifida is the incomplete closing of the bone and membranes surrounding the spinal cord. As said above, people with Chiari Malformation Type II usually have spina bifida.

Syringomyelia is when a cyst forms in the spinal cord’s central canal. This can cause pain, stiffness, and weakness in the neck, shoulders, back, and limbs. 

Tethered cord syndrome occurs when the spinal cord abnormally attaches itself to the tissue at the bottom of the spine. This condition is progressive, as it gets worse as the child grows. This condition can result in the damage to nerves that control the muscles in the lower body and legs.

Spinal curvature is common in people who have syringomyelia or Chiari Malformation Type I. If the spine bends either to the left or right, this is called scoliosis. If the spine bends forward, this is called kyphosis. 

Diagnostic tests and treatment

In the process of diagnosing Chiari Malformation, a doctor may order an MRI, CT scan, or X-ray. An MRI is the test that is used to diagnose Chiari Malformation most often. The doctor will also check things such as your motor skills, balance, and response to touch. This is because all of these functions are controlled by the spinal cord and the cerebellum. 

In the process of diagnosing Chiari Malformation, a doctor may order an MRI, CT scan, or X-ray. An MRI is the test that is used to diagnose Chiari Malformation most often.

If the Chiari Malformations cause no symptoms, then treatment may not be necessary. However, if pain is caused by this condition, it can be treated with pain medication. Surgery may be required to fix any functional abnormalities and prevent any progressive damage to the central nervous system. 

Spreading Awareness 

Whether it be during September or throughout the rest of the year, organisations such as Conquer Chiari encourage people impacted by Chiari Malformation to spread awareness however they can. Whether it be through something as simple as sharing awareness posts on Facebook, or through something a bit more complicated like wearing clothing and jewellery mentioning Chiari, hosting a fundraiser, or participating in annual Chiari Awareness Month events such as the Conquer Chiari Walk. 

Like with any other chronic illness, the spread of awareness and information regarding Chiari Malformations is incredibly important. Not only does this encourage understanding towards those who experience Chiari Malformations from those who don’t, but it also opens the doors towards new research regarding the causes and treatments of Chiari Malformation.

If you’re wanting to learn more about Chiari Malformations and the lives of those who experience it, you can visit websites such as the Mayo Clinic (https://www.mayoclinic.org/diseases-conditions/chiari-malformation/symptoms-causes/syc-20354010) and Conquer Chiari (https://www.conquerchiari.org/index.html). 

About The Author

Amy Clements is a 20-year-old who has lived with chronic pain, the result of Fibromyalgia, since childhood. In her teens she was diagnosed with Complex Regional Pain Syndrome in her wrist, which was the result of a netball injury. Amy lives in New Zealand and studies Business part-time at University. She enjoys reading novels and writing. She especially enjoys writing about her experience with chronic illness.

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What is Ataxia? (International Ataxia Awareness Day)

What is Ataxia? (International Ataxia Awareness Day)

The International Ataxia Awareness Day is on the 25th of September each year, with the aim of raising awareness about this rare condition. The Mayo Clinic identifies ataxia as “a lack of muscle control or coordination of voluntary movements.” This lack of muscle control can impact the movement of the arms, legs, neck, head, and the muscles required to swallow, breathe, and create speech. The symptoms of ataxia evolve over time in a progressive manner. 

Symptoms of Ataxia

The symptoms of ataxia can arrive suddenly or develop slowly over time. Depending on the cause and type of ataxia, symptoms can develop and any stage in life. As ataxia is a sign of certain neurological disorders, it is important to be aware of these symptoms:

  • Change in speech, e.g. slurring
  • Difficulty swallowing
  • Involuntary eye movements
  • Difficulty walking, unsteady gait
  • Headaches and migraines
  • Poor coordination, resulting in difficulty with fine motor skills, such as eating, buttoning your shirt, or writing.
Experiencing headaches and migraines as a symptom of Ataxia

If you experience any of these systems persistently and aren’t aware of having a condition that causes ataxia (such as muscular sclerosis), then you should consult your doctor.

Causes of Ataxia

Ataxia can often be a sign of an underlying condition. Persistent ataxia is normally the result of damage to the part of your brain that controls your muscle coordination (the cerebellum).

Ataxia can be caused by hereditary genetic disorders, but it can also be caused by many conditions, including stroke, head trauma, a tumour, cerebral palsy, brain degeneration, alcohol abuse, autoimmune diseases (e.g. multiple sclerosis), certain vitamin deficiencies, toxic reactions, and certain medications.

Ataxia can not be cured, but it can be treated. Treatments vary depending on the cause of the Ataxia. Some adults who develop ataxia never find out the specific cause of their condition.

Types of Hereditary (Inheritable) Ataxia

The first group of hereditary ataxias are Autosomal dominant ataxias. Autosomal dominant ataxias only need one abnormal gene to be passed down from one parent to result in you getting the disease. Each child with a parent who has an autosomal dominant ataxia gene has a 50% chance of inheriting the ataxia gene and developing the disease. The two types of autosomal dominant ataxia are Spinocerebellar Ataxia and Episodic Ataxia. 

The types of hereditary ataxia

The second group of hereditary ataxias are Autosomal recessive ataxias. Autosomal recessive ataxias need two abnormal genes (one from each parent) to be passed down to result in you getting the disease. Each child of parents who are both carriers of the gene has a 50% chance of becoming a carrier themselves, and a 25% chance of developing the disease. Two types of autosomal recessive ataxia are Friedreich’s ataxia and Ataxia-Telangiectasia.

There are also other ways Ataxia can be inherited. Mitochondrial Ataxias can pass from mother to child through defected mitochondria in the mother’s eggs. 

Types of Acquired Ataxia

Acquired ataxia occurs when someone suddenly develops these symptoms, without a family history of ataxia, as a result of an external cause. The two types of acquired ataxia are Sporadic Ataxia and Multiple System Atrophy (MSA). For some people who develop Multiple System Atrophy, they may have first been diagnosed with Sporadic Ataxia before their symptoms progressed. 

How Ataxia Can Impact Everyday Life

There are many ways that the symptoms of ataxia can impact everyday life. Here are some examples: Someone with developing ataxia who is unsure what is happening may feel clumsy and disheartened by their new symptoms. At first, they may alter the way they walk in an attempt to maintain balance as waking starts to become difficult. Previously active people may have to give up certain hobbies, such as sports, due to struggling with mobility. Even moderate exercise can result in fatigue and spasms when you have ataxia. As the ataxia progresses, a mobility aid or walking aid may be employed, and there is a high risk of injury due to falling as a result of lack of balance. Many people with ataxia need help with personal hygiene, eating, and dressing. Along with all these other symptoms, their speech can deteriorate. As it does, this causes communication issues, which will require the assistance of a speech therapist. 

Using a walking aid or mobility aid when experiencing the symptoms of Ataxia.

While there is currently no cure for ataxia, research is looking very promising. There are many ways that those impacted by ataxia, either directly or through a friend or family member, can get involved in fighting ataxia. There are plenty of ataxia awareness events and research trials that can be found on the internet if supporting the search for a cure interest you. For more information on ataxia or International Ataxia Awareness Day, you can visit this webpage by the National Ataxia Foundation: https://ataxia.org/what-is-ataxia/

About The Author

Amy Clements is a 20-year-old who has lived with chronic pain, the result of Fibromyalgia, since childhood. In her teens she was diagnosed with Complex Regional Pain Syndrome in her wrist, which was the result of a netball injury. Amy lives in New Zealand and studies Business part-time at University. She enjoys reading novels and writing. She especially enjoys writing about her experience with chronic illness.

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Long QT Syndrome Isn’t QT (Cute)

Long QT Syndrome is not QT (Cute)

Long QT Syndrome is a rare heart condition in which the heart takes longer than normal to repolarize (recharge) after a heartbeat. This can lead to palpitations and/or potentially dangerous arrhythmias, leading to blackouts/fainting, seizures and death. Long QT Syndrome is one of the leading causes of sudden cardiac death in otherwise young, healthy people.

Elastic Heart

I was seventeen years old when I started to experience disturbances with my heart rhythm. My heart rate would ping from one extreme to the other, shooting up at inconvenient times, or it would slow down to the point that I had to sit and wait at the top of the stairs while I waited to feel less faint.

Long QT Syndrome is not QT (Cute) Author wearing heart monitor

Thanks (but no thanks) to the frequency of these episodes, it was pretty easy for my doctors to prescribe me Propranolol to control my heart rhythm, although at this point I was not yet diagnosed with Long QT Syndrome. ECG monitoring pointed to episodes of supraventricular tachycardia (SVT for short – a faster than normal heart rate) and bradycardia (resting HR below 60bpm in adults) which was briefly controlled by the medication. Off I went to drama school with my medication, a high dose but it was working.

Eventually, the symptoms started to come back, and then they got worse. At one point my chest pain was so bad and continued for a few days so my best friend and I got the Tube to the A&E department, where we spent seven hours (she hates hospitals) and they didn’t find anything new, just the standard extra electrical activity from my SVT. Another time I simply passed out while walking down the stairs and suddenly I was on the floor with a huge gash in my ankle. We started to lower the dose of the Propranolol, and eventually, the cardiologist decided that there was nothing we could do for now as medical treatment was unsafe, but it wasn’t bad enough to warrant any other treatment.

My heart will go on (and on…)

I continued for a few years just living with a random heartbeat. It was annoying, but I got used to it. Most of my A&E visits were not cardiac related, as around the same time the rest of my health conditions started to get worse. I had ECGs (electrocardiogram – tracing of the electrical activity of the heart) consistently enough to be fine with GP input.

Around the age of 23, my SVT really started to play up again and I had a few A&E trips. One time a nurse somehow managed to get the cannula straight through my vein, which he only noticed when I pointed out that my blood was dripping onto my coat and that I was about to pass out. At the time I had a housemate who would give up her time to come and sit with me and escort me to the toilet (not her favorite part of the experience) and buy snacks for when I was finally allowed to eat again. Every time, it was the same thing – it’s your SVT, it’s good you came, if it gets worse come back again.

Long QT Syndrome is not QT (Cute)

So we continued this game. In the summer of 2018, I moved into my own apartment, which was great. My best friend and my mom helped me paint it. A couple of weeks later I experienced some horrible chest pains that were making me almost constantly dizzy, so after a couple of days, I called 111 who sent me an ambulance although by now it wasn’t quite so bad. I wasn’t having a heart attack or anything life-threatening, so they said I don’t have to go to the hospital, but they asked me “did you know you have a prolonged QT?” – I did not. I didn’t even know what that really meant. They advised me to see my GP urgently, but call the ambulance if it got worse again. I saw my GP the next day, who gave me similar advice – I was due to see a new cardiologist in January.

Continuing Problems

A month later, I woke up just after midnight with the worst chest pain I had ever experienced. I honestly thought I was about to die. I literally reached for my phone and was ready to text my family group chat that I love them, my colleague that I wasn’t coming into work because I was dying, and call myself an ambulance. I was too dizzy so I sat up for a few minutes trying to breathe, grasping at my chest in tears. For whatever reason, I decided to put a halt on my plans. In retrospect, calling the ambulance would have been the correct thing to do so they could see exactly what was happening. I did text my mom, just to say that I had really bad chest pains and that I was going to see how things go.

Blood Pressure testing equipment for Long QT Syndrome

After about an hour, in which the pain didn’t subside but I did feel calmer, I got up and slowly walked around my apartment to see if the movement would help. I had a glass of warm milk, and did my basic obs (yes, I have a blood pressure/HR machine by my bed) and decided I was too tired to deal with the hospital. I was too scared, too wired, and too chest pain-y to sleep. My breathing wasn’t the best but manageable. I decided it was safe to close my eyes around 5am, and after two hours of sleep I got up and went to work, where I felt okay at my desk but during a meeting kept fading in and out with a spectacularly low HR. 28bpm is not normal for me when awake, even if the meeting is boring.

I drove home and after a few hours I decided to call 111 for advice, and once more they sent me an ambulance. I sat in my recliner while they looked at my medical file (I have a physical copy at home), put electrodes on me and petted my cat Lily who watched the three paramedics suspiciously. They decided to take me to the hospital, and I’m proud to say that was only my second time in an ambulance. Not my planned Friday night, but oh well. The A&E nurse did an excellent cannulation.

Diagnosis

After all my tests were done, an on-call cardiologist came to see me. She ordered some medication for the pain and a chest x-ray, just in case. Eventually, she came back and that’s when I got diagnosed with Long QT Syndrome. She told me that I really ought to be coming in as soon as I feel these chest pains and extreme changes to my HR, which is fair enough. This is important advice for anyone even without a heart condition – it is far better to be safe than sorry in these cases.

I saw my GP, who gave me similar advice and to avoid stress and strenuous exercise. My old NHS trust moved my cardiology appointment to February which was inconvenient but I felt like I knew enough to not worry too much about this. A lot happened with my other health conditions at this time but eventually, it was time for my cardiology appointment. Guess what? Because it was a different NHS trust that I’d left when I moved, they had nothing about my new diagnosis. But the cardiologist did laugh out loud at how quickly my HR changed. Thanks, I find it funny too.

I finally saw my new cardiologist this April 2019 (I didn’t want to see the other one again) and he seemed pleased with the management of my heart conditions, apart from one thing.

“I don’t want you swimming,” he said seriously when I described what kind of activities I do with work. “Don’t do it. You can go in shallow water if you are accompanied. But don’t swim.”

Well… I like swimming. Even with a bad shoulder, a useless ankle and crappy legs, I can swim well. I enjoy going swimming at work (I teach at a SEN college) and I love being in the water. Sure, the ocean freaks me out, but I love swimming in it on holiday. Weirdly, this is probably my least favorite thing about my heart condition. I understand why (if my heart stops in the water, I drown, if I have palpitations in water, there’s too high of a risk I can’t get myself out) but I just want to swim. Shallow water is boring. Swimming is the one thing that despite the restrictions my health puts on me, I could actually manage doing and felt worth the extra pain and fatigue.

Nothing Breaks Like a Heart

Aside from no swimming, and not doing strenuous exercise, Long QT Syndrome can be strange to manage. After doing my research and seeing that sudden loud noises can trigger it, I realised that many of my night episodes were probably because of my phone vibrating on my bedside table – not particularly loud, but in the silence, it does make me jump. I’ve had the vibrate function switched off for about five months now and the night episodes have decreased. Weird adjustment, but it works for me.

There is a lot of monitoring involved, as there always has been since I was seventeen. I hate the goo of the electrodes, and I hate when you walk into the ECG room and its cold and you have to take off your bra. I hate the ambulatory ECGs (worn for 24 hours or a week) because they’re itchy and you can’t take a bath (at the moment I can only take baths, as showers make me really dizzy). I don’t mind echo’s (echocardiogram – an ultrasound of your heart) because I find it cool that I can hear the whoosh-whoosh of my heart. I’m used to the blood tests, which my mom usually does for me (she’s a nurse) so these don’t bother me in the slightest.

A big struggle has been medical management. I have a whole load of other conditions which require medication, so I had to have a long review to decide what was worth the risk and what was not. The problem with Long QT Syndrome is that anything or nothing at all can set it off, so medications that interact with the electrical activity of the heart might just be the thing that top it off. On the other hand, without some medication, I don’t function properly, which is also a risk.

Although this all can sound scary, it’s not. Possibly because I got used to the diagnosis and the warnings a long time ago. The people at my work are incredible and there is an Occupational Health nurse who makes sure that I am supported at work, and my colleagues have adjusted to my humor about my unfortunate health. My friends likewise make sure we can do things together (so if I can’t go swimming, I can join them later for tea) and laugh at my jokes. I think that’s an important part of any illness, disability or condition – having people, whether that is your family, friends, or colleagues – who keep you included and feeling like yourself.

Long QT Syndrome really isn’t the best. While I can rock an ambulatory ECG monitor with a Calvin Klein crop top, the reality is not so pretty. Fortunately, I have a wonderful support network, some great doctors and the wonderful NHS 111 service at hand.

About The Author

Vai is Lithuanian who has lived in England since the age of 2. She has a love of theatre and performance (she danced semi-professionally in her teens) and has a degree in Drama. She discovered her passion is in teaching SEN college students and supporting young people with disabilities. Vai has been diagnosed with several different chronic conditions and thinks it’s important to share her experiences of living with chronic illnesses to support others going through the same thing.

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Distichiasis – Living With Chronic Eye Pain

Distichiasis, Chronic Eye Pain

Nearly everyone has had sore eyes at some point. Sometimes they get better on their own, but they can also be a sign of something more serious.

Your eye doctor can figure out what’s going on and find the right treatment for you.

Distichiasis - Chronic Eye Pain

My Eye Pain Story

Have you ever experienced the pain of something sticking into your eye, like an eyelash or a bit of debris? It hurts badly, doesn’t it? Well, I have that pain almost every day. I was born with a congenital eye defect called Distichiasis. It means I have a double row of eyelashes in each eye, and one grows on the inside of the eyelid, so the eyelashes scratch my corneas and the surface of my eyes.

The defect was only diagnosed when I was a toddler, following a long battle between my mother and her local doctors. As a baby I had suffered extensively with sticky eyes, and all the usual childhood eye illnesses, but nobody would listen when mum said it was serious. Then my brother was born and displayed the same symptoms. Finally, the doctors decided to take a closer look.

Seeking Medical Care

My first eye consultant told my mum that he had only ever seen this condition in a pet chihuahua! And up to now, at the age of thirty-seven, I have only ever known it to be present in me, my brother and my dad. I have been diagnosed as carrying a recessive gene, FOX C2, which means my official condition is called Lymphoedema Distichiasis. I could be prone to swollen limbs and developing cellulitis as I grow older, but so far, my condition only seems to affect my eyes. My dad and brother have both been hospitalized due to the Lymphoedema aspect of our condition. It is very strange. 

Treatment

As a child I underwent over a dozen medical procedures to remove the ingrowing eyelashes in both eyes. This involved cryogenic treatment, and laser treatment, all done under general anaesthetic. It left me with severe scars on both corneas, which gradually left me prone to severe Dry Eye Syndrome. My eyes do not produce enough natural tears to keep the surface lubricated, so I apply eyedrops frequently throughout the day, and I use an overnight ointment every night.

About eleven years ago I had eyelid rotation surgery, where the surgeon cut my eyelids and repositioned them in the hope that my eyelashes would grow outwards rather than inwards. It was very painful, but it seemed to help for a while. Nowadays I manage my condition by removing the ingrowing eyelashes with tweezers, and I visit Manchester Royal Eye Hospital for a check-up once or twice a year.

Daily Life

Despite my best efforts, I have not yet found another person with the same condition. Indeed, I didn’t consider myself particularly ill up until I began to explore the spoonie community on social media. My doctors had never made a big fuss about my eye condition, and I always just got on with life. I used to work in an office full time, I drive a car, and I have young children, although I was warned there was a fifty-fifty chance they could inherit my condition. It seems that my husband’s genetics have watered down the illness, however, because both our children seem to have perfect eye health. I am simply a freak of nature, as my husband affectionately calls me!

All my life I have experienced painful eyes, but it is so normal that I only notice it on days when my eyes don’t hurt. The pain can be sharp, stabbing sensations like needles, or it can be an ache, as though my eyeballs are just tired. Some days I want to rip my eyes from their sockets just to stop the excruciating pain. I am also very light sensitive, so I wear sunglasses even when the sky is white, because the light hurts my eyes. There is no cure for this condition. I can only manage it by removing the ingrowing eyelashes, and using eyedrops and ointment to try and ease the pain. 

About The Author

Author Catherine Green

Catherine Green is a pagan housewife, who blogs about lifestyle, family, the world of books, and of course, her favourite pastime, ghost hunting. She also blog about her adventures in British shamanism and witchcraft, holistic health and wellbeing, and living with a rare genetic disorder. Find her on facebook.

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10 Things I Do Because I Have Dysautonomia

Ten Things I Do Because I Have Dysautonomia and my tips for others to live well with this illness.

Six months ago, I was diagnosed with small fiber neuropathy and autonomic neuropathy, which is a form of dysautonomia. I had been searching for a diagnosis for my unexplained weakness and fatigue for a few years, but all of my testing was coming back normal. Every doctor I saw diagnosed me with different conditions: depression, fibromyalgia, chronic fatigue syndrome, anxiety, and PTSD. I never felt like these were the cause of my symptoms, and after months of searching, I was referred to an amazing neurologist who put the pieces together and found the true cause.

In the human body, the autonomic nerves control things that we don’t normally need to think about like digestion, blood pressure, and heart rate. Autonomic neuropathy causes all of these nerves to malfunction. Though I have found many things that help, I still experience symptoms such as dizziness, nausea, fatigue, and weakness on a daily basis. I am working hard to improve my symptoms and quality-of-life, but I know that the chances are low of my nerves regenerating.

In the human body, the autonomic nerves control things that we don’t normally need to think about like digestion, blood pressure, and heart rate. Autonomic neuropathy causes all of these nerves to malfunction. Though I have found many things that help, I still experience symptoms such as dizziness, nausea, fatigue, and weakness on a daily basis. I am working hard to improve my symptoms and quality-of-life, but I know that the chances are low of my nerves regenerating.

Because of this, I have learned to manage my symptoms with lifestyle changes as well as medications. To me, these are normal things that I do every day. But to other people, these things might seem a little bit weird. I hope that by sharing these 10 things, I can help bring a better understanding to the chargies living with this condition.

Ten things that I do because I have Dysautonomia:

  1. Fidget Constantly Autonomic neuropathy causes blood to pool in my arms and legs, so I try to move them a lot. I fidget while sitting down, standing in line, and even in bed. This keeps the blood moving around and prevents my arms and legs from becoming painful and swollen.
  2. Drink Lots of Water Autonomic neuropathy causes me to have low blood volume, so to combat this, I drink water all the time. I always have a water bottle with me, gallons of water in my car, and electrolyte tablets in my purse.
  3. Wear Compression Socks Because autonomic neuropathy causes blood pooling in my legs, I wear compression socks anytime I am moving around to help squeeze the blood back to my brain. They keep me from feeling dizzy and lightheaded, and they help my pain a little bit as well. Most compression socks are not the most stylish, and most of my outfits don’t look the greatest with knee-high socks. However, I put up with this since compression socks make such a difference for me.
  4. Make Lots of Bathroom Trips Autonomic neuropathy causes my G.I. system to malfunction in different ways everyday. I get nauseous frequently, and a lot of times, food doesn’t sit well.  I also have problems completely emptying my bladder, so I tend to make lots of bathroom trips in order to avoid being uncomfortable with no bathroom available.
  5. Squat or Sit on the Floor Sometimes on bad days, I just need to sit down. This is not always convenient, like when I am standing in line at the grocery store, but it’s better to be sitting and embarrassed than unconscious. If I am shopping with friends and they stop to look at something, sometimes I will find a seat on the floor next to them. Usually, though, I just use my wheelchair so that I always have somewhere to sit and stay safe.
  6. Avoid the Heat As much as I don’t like the cold, the heat is so much worse for my symptoms. Autonomic neuropathy can cause heat intolerance, which makes me nauseous, lightheaded, and extremely tired when I am overheated. Because my sweat glands are affected as well, I can get overheated in places that most people would find a comfortable temperature. I always carry cooling towels in my purse, but sometimes it is just too hot for me to stay.
  7. Elevate my Legs Because the blood pools in my legs, I like to rest with my legs elevated higher than the rest of my body. This can help to resolve symptoms, and it improves my ability to rest. If I am extremely symptomatic, sometimes I will lay on the floor with my legs up the wall.
  8. Change Positions Slowly If I move too quickly, my body doesn’t have enough time to move the blood from my legs to my brain.  This is especially important when I wake up in the morning or from a nap. I spend a few minutes sitting upright, a few minutes with my legs dangling off the bed, and a few minutes standing up before I start my day. This gives everything time to get into the right place and avoid a morning flare.
  9. Pick Things Up with My Feet Bending over to pick things up causes a lot of dizziness, so I find creative ways to avoid it. At home, I usually am barefoot and pick things up with my toes, but in public, I try to ask for help or squat down to get things. Soon, my service dog in training will be able to pick things up for me so that I no longer need assistance.
  10. Use Grocery Delivery Autonomic neuropathy causes my heart rate to be elevated all throughout the day. This makes normal things like washing the dishes, folding clothes, and going to school a workout for my heart. If I can conserve energy by delegating tasks, I will, and getting groceries is one of my least favorite tasks. It always drains my energy, and I am always exhausted for a few days afterwards. Getting the groceries delivered means that I can spend my energy doing things that I find enjoyable instead.
Ten Things I Do Because I Have Dysautonomia and my tips for others to live well with this illness.

Some of these things may seem a little weird or unnatural, but for those with autonomic neuropathy and other forms of dysautonomia, they are essential. They are all small things, but when combined, they make a huge difference in symptom control and quality of life.

my tips for living with dysautonomia

Blythe Neer is a Chargie living well with Celiac Disease, Ehlers Danlos Syndrome, and Small Fiber and Autonomic Neuropathies. She spends most of her time at home blogging, taking photos, training her future service dog, and making unique spoon gifts with polymer clay for her Etsy shop. You can find her at sustainablespoonie.com or on Instagram at instagram.com/sustainablespoonie.

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I Can Never Swim Again – Cold Allergy Exists!

Cold Allergy, Cold Urticaria Story

Chronic illness can strike in many unexpected ways. This has been the experience for so many of us. We never know how or when chronic illness will strike. It can often feel like you’re trying to navigate a minefield just to get through each day. This is the story of how I discovered I had one of my chronic illnesses: Cold Urticaria, and why I can never swim again.

Today, I want to tell you about this weird allergy I have and I have had ever since I was a teenager. I’m allergic to cold, and especially to cold water. It’s called Cold Urticaria. I didn’t know this until about two years ago. I knew I had the allergy, but I had no idea that it actually had a name and that other people had it as well.

I knew there was something very wrong, as I would get a strange rash and feel ill every time I was exposed to cold water, but it would take many years before I found out this condition was real and actually had a name. This is a challenge so many of us have faced along our journeys with chronic illnesses.

Here is how I figured out what is wrong with me. When I was younger, we had a little boat that we went to and a little island in Holland. When we would go there, we would go swimming and play in the water. When I was a teenager, I noticed that the longer I would stay in the water, the worse my reaction to the water was. It was very weird.

How Natalie learned she has an allergy to cold (Cold Urticaria) and has adapted her life to be able to cope with it better. Woman sitting on a cold,rocky beach wearing a sweater.

It’s Raining and I’m Burning!

The first time that it was really bad was when I was 14 years old. I had my boyfriend over on the weekends, and we went on a little sailboat on to the lake. Well, on this particular lake, the weather can get crazy and turn in seconds. We saw a dark cloud come in, so we turned around instantly to try to sail back to the harbor in time, but we didn’t make it.

The storm caught up with us. There was a lot of wind, crazy rain, and we were just drenched. We eventually made it back to the harbor safe and sound, but I was feeling weird. I felt like my whole body was on fire. I felt like I was burning. My mom took me in and she saw this rash all over my body that looked like hives. It felt like it was burning and I was shivering and in shock. My mom thought I was just really cold and needed to warm up. I took a warm shower, but it didn’t really do anything. So then she put me in a lot of blankets and we just waited it out. It took about ½ hour to an hour and my body calmed down and I was fine again. It was just so strange.

After that very extreme episode, I wasn’t able to just jump into the lake and swim anymore. If I were to jump into the lake and stay in for more than 5 minutes, I would get this rash and this reaction and these hives that felt like a sunburn. I didn’t feel it while I was still in the water, only after I got out, so I thought as long as I stayed in the water, I’d be fine.

At first, I didn’t realize it was the water itself causing this strange reaction, but thought maybe it was the beach itself or even the algae in the water. I thought the reaction might be triggered by warming up after I got out of the water. Little did I know that I was literally having an allergic reaction to water. Then I thought, maybe it’s the lake? Maybe it’s the sweet water so I’ll go to the beach and try to go into the sea. No matter how warm it gets outside, the sea water in Holland always remains cold. I noticed I couldn’t do that either. Now I thought if I can’t go in the lake and I can’t go in the sea, maybe I can swim in an outdoor pool since pool water has chemicals in it to help keep it clean. By this point, I still thought I may be allergic to the algae or something else in the water.

I went to the pool and the same thing happened again. By this time, I was about 16 and really wondering what was going on. I’ve tried everything. I cannot swim in lakes. I cannot swim in the sea. I can’t even swim in the outdoor pool, but I can go to the indoor pool and swim and I’m fine there. This made no sense to me.

Girl jumping into a lake. Learning about Cold Urticaria, it's causes, and how to prevent future attacks.


That winter I was 16. I’m from Amsterdam and we ride our bikes a lot. I was riding my bike and it started to rain. I was in a restaurant and I didn’t have my gloves on and my hands started to burn like the rain was giving my hands an allergic reaction. I started breaking out in hives and it felt like my hands were on fire and extremely sunburned. It’s the worst! I started to make a connection— the rain, the water in the sea, the water in the lake, the water in the outdoor swimming pool…I am allergic to water! Something still didn’t make sense to me. I knew I couldn’t actually be allergic to water since I’m still able to take a warm shower without a reaction. Then something clicked. Maybe it’s just COLD water?

Still Many Unanswered Questions

Still unsure about what was actually causing this rash, I just tried to live with it for about 20 years, basically from 14 to 34. I don’t really think twice about it, I really just don’t go swimming anymore. I’ve tried putting my toe in the water and then my foot. I’d have to take my foot out in about 2 minutes because it starts to prickle and burn. That’s how I’d decide whether or not it was safe for me to go into the water. I’m not going to go in the water.

Something changed when I moved to Aruba when I was 23 years old. I lived in Aruba for about a half year and I was able to go in the water there. I could swim, stay in the ocean for a very long time and I didn’t have any reaction. I thought maybe my weird episode is gone so I can just swim outside again.

This change made me think it was just a transient episode and it was now over and I could return to the water. I soon learned this was not the case. When I was back in Holland and wanted to go outside again into the sea, I had the same reaction. I went on a holiday to the Azores Island, near the middle of the Atlantic Ocean, and got the same reaction there. I thought it would be safe to try swimming again since it had been so long since I’d had the reaction. I once again had the reaction and broke out in hives all over on my holiday.

“I’m Allergic to Cold!”

I finally realized a key difference between the sea in Aruba and the water she swam in at home in Holland: the temperature. I made the connection that the sea in Aruba has a better temperature. It’s not cold so I can go into the water there, but basically cannot go into the water in any other parts of the world. I took it as a given. I never really talked about it because I just really didn’t think about it. It wasn’t something that typically impacted my daily life.

A New Challenge

Recently, my daughter has taken an interest in water and swimming, so I had to face this challenge again. My daughter, who is now 7 years old, started to go swimming. First, she was a little bit afraid of the water. When she really went and and wanted me to come in with her, she was about 5 ½ . She was like, “Mommy, come swim with me.”, and I was like, “No. I cannot go into the water because I’m allergic to the cold water.”, and I realized this is actually really strange. When her friends come over, they’re also like, “is your mom going to swim?”, and I’m kinda like, “No” and having to explain to these 5,6,7 year olds that I’m actually allergic to cold water and I cannot enter the swimming pool or the sea for that matter. I started to realize that this is really weird and maybe I should know more about it. So I started looking online for cold water allergies or something and I stumbled upon Cold Urticaria.

Beach Heart Learning about living with an allergy to cold and cold water.

But What’s Really Happening?

Like many of us with chronic illnesses, I have several conditions that are comorbid, and sometimes it can be difficult to distinguish if a symptom is related to one of the pre-existing chronic conditions or if it is a new problem altogether. I thought to myself, “You are allergic to the cold and now so many symptoms from over the years that I thought were from my fibromyalgia or maybe my Hashimoto’s or maybe an undiagnosed issue were all cold urticaria and I just never knew.” Prior to this, I had never researched it and wasn’t diagnosed by a doctor. The rash would come and go, so I didn’t even think about it when I would go to the doctor. That just never occurred to me.

I’m One in a Million!

This can be a particular issue with rare disorders, as I soon found out. After doing my research, I found out Cold Urticaria is actually super rare and only 1 in maybe a million people (or something really rare like that) have it, It’s literally that you’re allergic to cold, so i was just shocked. It was something I lived with for basically my entire life and so I really didn’t think about it too much.

Serene beach scene with pink sand and sunny sky How Natalie learned she has an allergy to cold (Cold Urticaria) and has adapted her life to be able to cope with it better.

Changes….

Now that I had a better understanding of what these reactions were and what was causing them, I began to make lifestyle changes to avoid this additional health challenge and sought advice from doctors as to what to do if I did have an episode. I just didn’t go swimming. I realized I can’t ride my bike in winter without my gloves. I realized living in a warmer climate would be better for my health, so after living in Holland for several years, I moved to the Canary Islands. At a point, I had these weird lumps on my toes and they hurt and looked like it might be some kind of allergic reaction. I went to the doctor and the doctor told me, “well, why don’t you put your feet in soda water (water with baking soda in it)”. Well, that just made it worse and I couldn’t walk because my toes got so swollen and filled with these bumps. I couldn’t even wear shoes anymore! The reaction seemed to be getting worse, but I still only got it in winter and I had no problems during summer. I had never linked all these weird symptoms with the cold water reaction, but my feet were only getting these weird bumps in winter in Holland. Things were starting to make more sense now. Now I know what the cause is and now that I know what kind of symptoms it has, I can tie all these weird reactions together. And that’s my crazy story about why I can never swim outside and can only swim in a heated pool or in the Caribbean Sea. So I just have to go there really often.

I learned that I should trust my instincts when I feel something is not right within my body. After a lot of research and through trial and error, I learned that Cold Urticaria, or an allergy to cold, actually does exist and discovered that it can be managed with certain lifestyle changes and avoiding conditions that trigger the reaction. As with any condition, other people may react differently to a stimulus, such as cold water, and have varying results with treatments.

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Rare Disease Spotlight Series: Thalassemia

WHAT IS THALASSEMIA?

Thalassemia is a genetic condition more prevalent in individuals of certain ancestries that can result in anemia. People with thalassemia have mutations in the cells that create hemoglobin. Hemoglobin is needed to store and carry oxygen in the red blood cells, leaving those with this condition fatigued. Mild thalassemia may be managed with life-style changes but severe forms may require blood transfusions or stem cell replacement therapy and can impact life expectancy.

thalessemia
Credit; Transport Executive

Types of Thalassemia

There are two types of thalassemia: alpha and beta. The type that a person has depends on which proteins in the hemoglobin DNA are affected by mutation. The severity of the disease and the symptoms a person experiences is determined by the type they have inherited.

Alpha Thalassemia

Two genes from each parent, for a total of four genes, are required to make the alpha globin protein chains. The chart below shows how missing any number of the genes leads to alpha thalassemia.

Missing Alpha GenesDisorderAnemiaOther Names
1Silent CarrierNoneAlpha thalassemia – 2 trait, alpha thalassemia minima
2TraitMildAlpha thalassemia – 1 trait, alpha thalassemia minor
3Hemoglobin HModerateHemoglobin H disease
4MajorFatalHydrops fetalis with Hemoglobin Barts

Beta Thalassemia

One gene from each parent is inherited to form the beta hemoglobin chain. The chart below shows how the affected genes cause various forms of beta thalassemia.

Affected Beta GenesDisorderAnemiaOther Names
1Silent CarrierMildBeta thalassemia minor
1TraitMildNone
2IntermediaModerateNone
2MajorSevereCooley’s Anemia

Signs and Symptoms of Thalassemia

thalessemia causes fatigue

Individuals with thalassemia have symptoms that vary in severity depending on the type they have inherited. Some persons may be silent carriers with no symptoms but others may have mild symptoms that minimally impact their life. Still others may have symptoms severe enough to require life-saving interventional treatments.

Symptoms can include:

  • Chronic Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine
  • Anemia
  • Delayed puberty
  • Poor appetite
  • Enlarged liver, heart, and/or spleen

Diagnosing Thalassemia

thalassemia

Thalassemia is typically diagnosed within a child’s first two years of life by their pediatrician.  As thalassemia is a genetic disorder, many parents will be aware of the risk and their health care providers will know the symptoms for which they need to be watchful. A complete blood count (CBC) will measure the hemoglobin and size and quantity of red blood cells. A type of test called a reticulocyte count can determine if the bone marrow is producing enough new red blood cells. Iron studies can determine if the cause of anemia is due to iron deficiency. Genetic testing may be used especially in cases of a family history of alpha thalassemia. Sometimes people choose genetic testing in family planning. Besides that, prenatal testing is possible when there is an identified family-history risk.

 

Treatment for Thalassemia

Treatment depends on the type and severity of the symptoms. Mild thalassemia may require no treatment or a patient may require a blood transfusion a few times during their lifetime. Moderate to severe thalassemia could require regular blood transfusions as often as every few weeks. This procedure can lead to the build up of iron, therefore patients would need to be treated with medications for iron overload. Some hospitals are now treating thalassemia with stem cell transplants. This procedure is capable of eliminating the need for transfusions in some patients. Most patients with thalassemia will be able to live full lives, but in severe cases life expectancy could be reduced.

Author T.J. Madden for The Unchargeables

About Author T.J. Madden

T.J. is a contributing author for The Unchargeables, manages The Unchargeables Twitter feed and is the newly appointed administrator for the Caregivers Support Group. She describes herself as a Reader, Writer, Baker, Teacher, Chicken Soup Maker, and Fighter for all Things Healthier, Stronger, Kinder, and Better than Yesterday.

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Rare Disease Spotlight Series: Ankylosing Spondylitis

Ankylosing Spondylitis on The Unchargeables

Ankylosing Spondylitis (AS) is one of several conditions in the family of rheumatic diseases that primarily impact the spine. It is an inflammatory condition that can lead to bone spurs or joints in the vertebrae fusing. In severe cases the inflammation, pain, and stiffness also impact hips and shoulders. Cartilage, tendons, the eyes, or even the heart and lungs can be victims of this damaging disorder. There is no cure, but some treatment options exist to manage symptoms and slow the harm AS eventually does to the body.

Ankylosing Spondylitis

Symptoms of Ankylosing Spondylitis

Pain in the lower back or joints that begins as a dull ache but worsens and widens quickly is usually the first indication of AS. As the condition progresses, the pain spreads to more areas of the body, affecting primarily the lower back, hips, and pelvis. This pain typically becomes chronic. Fatigue and anemia can also occur.

Some sufferers have mobility issues related to the pain and progression of arthritis. Many people with AS also have co-occurring conditions such as IBS, Crohns or Colitis, mental health disorders, other rheumatic diseases, and heart problems.

A member of our Unchargeables community described reduced reactive time as well as cognitive dysfunction brought on by fatigue and painsomnia. Levels of activity, particularly those which include physical touch, must be carefully monitored and modified. Some people with AS may become confined to home.

Ankylosing Spondylitis hoodie for sale at The Unchargeables shop.

​​​​Diagnosis and Treatment of Ankylosing Spondylitis

According to the Spondylitis Association of America, the average age of onset is between 17 and 45. Additionally, AS primarily impacts men. A rheumatologist is the specialist most likely to make a diagnosis of Ankylosing Spondylitis. There seems to be evidence of a genetic component so knowing your family history can help. A physical exam, including medical history, and imaging tests are routine in the diagnostic process. While the Mayo Clinic lists AS as common (more than 200,000 cases per year in the United States), it is not commonly known.

Treatment options include medications, home remedies, lifestyle modifications, alternative therapies, and surgery. Always talk to your doctor to develop a complete plan. The Mayo Clinic and the Spondylitis Association of America recommend a multipronged approach.

Medications that reduce inflammation or pain help many with AS. If that is not enough, some patients qualify for biologic medications. These are usually given as an injection or through IV fluids.

Home remedies such as heat and ice are also safe. They are often recommended as a first step or used to compliment other treatments.

Lifestyle modifications include diets known to reduce inflammation, regular exercise, and stress management.

Alternative therapies such as meditation and acupuncture are often tried. However, patients should be careful before agreeing to any spinal manipulation. Therapies including physical therapy, occupational therapy, and postural therapy are recommended as well as cognitive behavioral therapy.

Ankylosing Spondylitis
​​​How do I know if I have Ankylosing Spondylitis? Is it genetic?

Only a doctor can diagnose Ankylosing Spondylitis. If you think you might have it, setting up an appointment with a rheumatologist is the first step. One female member of the Unchargeables community experienced a delay in diagnosis of over a decade, possibly due to her gender (recall AS primarily affects men), so self-advocacy is crucial. Currently no blood test can positively identify AS. However, certain inflammatory markers can be used to help the doctor rule out other conditions or point toward a diagnosis of AS.

There does seem to be a genetic predisposition to AS. Testing for the gene HLA-B27 has been used. However, this test alone is not reliable as many carriers of the gene do not have the disease.

For more information on this rare disease, visit www.spondylitis.org.

For a patient perspective from members of our community interviewed for this article, please check out www.beingcharis.com or follow @JediMaster941 on Twitter.

For more support:

If you’ve already been diagnosed with Ankylosing Spondylitis and are looking for more support, you are welcome to join the hundreds of other Chargies (our alternative term for Spoonies derived from the Battery Analogy) on our Facebook support group, The Unchargeables! We’re also on Instagram and Twitter. We’re a community open to all chronic illness warriors including those with rare diseases and those who have yet to be diagnosed.
Also, check out our Ankylosing Spondylitis section in the shop for great gear to help you represent and raise awareness.

About Author T.J. Madden:

T.J. Madden writes about Ankylosing Spondylitis for The Unchargeables Reader, Writer, Baker, Teacher, Chicken Soup Maker, Fighter for all things Healthier, Stronger, Kinder, and Better than yesterday.

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Rare Disease Spotlight Series: Chiari Malformation

As a new feature, we’re going to start a regular blog highlighting some of the rarer diseases in our community. For our first post, we’ll be talking about Chiari malformation.  By Monica Roberts

Chiari malformation is a condition in which the brain tissue (specifically the cerebellum) extends past the skull into the spinal area, resulting in compression of both the brain and the spinal cord. This also disrupts the regular flow of cerebrospinal fluid (CSF).

 joejanechiari

  Types of Chiari Malformation

Chiari malformation can be classified into three types, the latter two being congenital, or present at birth.

Type I develops as the skull and brain are growing, therefore symptoms may not occur until early adulthood.

Type II (sometimes called Arnold-Chiari) is usually noted by ultrasound during pregnancy, though it can be diagnosed after birth or in early infancy as well. This type is also closely related to Spina Bifida.

Type III is a rarer pediatric form, and is considered to be the most severe.

 

Spotlight Chiari Malformation

 

Symptoms

It’s possible to have a Chiari malformation without symptoms and often the condition is only detected when tests are performed for unrelated issues. In addition, since Chiari affects the nervous system, symptoms are widely varied across a range of possibilities.

There are some common symptoms, most notably severe headaches that can occur after sudden coughing, sneezing, or straining. Other symptoms connected to Chiari are neck pain, problems with balance and/or dizziness, vision and speech problems, and difficulty swallowing. Less often, people with Chiari experience more severe spinal-related symptoms such as scoliosis or have difficulties breathing.

Diagnosis and Treatment

The most common way to diagnose Chiari is through imaging, such as MRI and CT, or ultrasound in pediatric cases. Recently, however, with the definitions of Chiari malformations shifting, doctors are using a combination approach that includes reported symptoms and a neurological exam to aid in diagnosis.

Treatment for Chiari depends on the severity of the malformation. If there are no symptoms present, doctors typically recommend monitoring through regular exams. If symptoms are interfering with quality of life, worsening, or impairing the nervous system, doctors may recommend surgery. The most common surgery for Chiari is decompression surgery, but alternatives like shunting to channel the flow of CSF exist as well.

 

Spotlight Chiari Awareness

 

How do I know if I have Chiari? Is it genetic?

Though studies are ongoing, Chiari isn’t currently known to be solidly linked to genetics, which means there is no way to identify if the condition may be passed on within families. The current lack of study information also means there is no accurate way to estimate what percent of the population has a Chiari malformation.

*If you believe you may be experiencing the symptoms of Chiari, or any other neurological symptoms, we strongly recommend you visit your doctor.

For more information on this rare disease, visit www.conquerchiari.org.

For more support:

If you’ve already been diagnosed with Chiari and are looking for more support, you are welcome to join the hundreds of other Chargies (our alternative term for Spoonies derived from the Battery Analogy) on our Facebook support group, The Unchargeables! We’re a community open to all chronic illness warriors including those with rare diseases and those who have yet to be diagnosed.

Also, check out our Chiari Malformation section in the shop for great gear to help you represent and raise awareness.