My Life with episodic ataxia

The story of Darcy

Why it took 28 years to officially be diagnosed with cacna1a rare gene mutation aka episodic ataxia-2 ? “Finally someone listened”

I have a rare genetic mutation in the cacna1a gene that controls The way subunit forms the hole (pore) through which calcium ions can flow.

(The CACNA1A gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel called CaV2. 1. This subunit forms the hole (pore) through which calcium ions can flow.)

Mutation in this gene leads to a bunch of neurological conditions. At age 28 years, I received finally a confirmation in genetic test, that I have this rare condition. I have episodic ataxia type2 a rare neurological condition associated with the mutation. The condition damages my cerebellum causing it’s nerve cells to die. (Therefore shrink or atrophy over time)

“The beginning “

When I was born something was off, I had global developmental delays which did lead to the idea from others that I had an intellectual disability, cognitive disorder and even a high functioning autism disorder by high school. I also found to have hyper mobile joints seeming like I have hypotonia or low muscle tone(which was discovered later on) with consistent muscle weakness, lack of stamina and fatigue.

By the time I was 10 years old, I began getting Ill from my condition which started as dizzy spells the dizziness with vomiting that gradually got worse, then was leading to ataxia (defined as poor balance and coordination with episodes) the vertigo (dizziness) would be severe enough I wouldn’t be able to walk at all, requiring assistance or a wheelchair and at times so bad that I’d have to get down on the floor due to severe spinning. Sometimes vomiting would be severe enough that it cause my stomach to spasm or like I had nothing left to vomit. (Almost like a muscle contraction or spasm uncontrollably)

“The doctors appointments”

The problem is that I knew I had ataxia because it was in my family and others were diagnosed. But no one would listen to what I had to say or think and took years of convincing and trying to get treatment that they wouldn’t give because tests would come back “normal “ what a silly situation when having a family history. It was stupid and that’s my honest opinion. They were trying to push to check everything else, you can think of and ran general labs as well as sent me to many different specialists, including local neurologists to find a diagnosis that I knew I had, that no one still would listen. They continued to do physical exams for any signs of anything including ataxia, which they claim was “fine” at the time , while I appeared FINE people failed to understand that “this is an episodic condition and isn’t always present “ which makes diagnosis challenging , not to mention its rarity and sometimes looking similar to an anxiety attack.

When a doctor can’t find the problem!!!!!! Doesn’t mean it doesn’t exist!!!!!!! I had learned this through my condition, and how difficult it makes it to diagnose which equals treatment which is very limited but can help control the debilitating episodes. Sometimes this condition can even be hard to control with medication and treatments aren’t the best. But truth is the suffering that had lasted a long time, interfering my quality of life and being capable of doing anything including things I love I felt were being taken away because of not being listened to and refused to be treated for it even though there was awareness of my family history and same exact physical symptoms I was having.

“Finally someone listened “

Ironically in year 2009, I traveled to Pittsburgh Pennsylvania UPMC for medical treatment. I had several MRIs prior of my brain in which hospitals, radiologists , and doctors claim to be normal and that showed no evidence of cerebellum degeneration (atrophy) I was THEN prescribed treatment for suspected episodic ataxia 2 , which helped. I feel they have listened to my concerns and knew exactly what was going on. They wanted to do genetic testing back then but I ended up going to a different neurologist which then still slowed down my diagnosis process. But at least symptoms were still under control.

“Genetic testing confirmed a cana1a genetic mutation responsible for episodic ataxia 2”

Finally after going back to that same neurologist office that started treating my ataxia. They sent me through a genetic counselor and tested. A mutation final came back in the cacna1a gene.

My CACNA1A Story

I was born July 26th 1992 with developmental congenital hip dysplasia where my hips were dislocated at birth. As an infant, I was later at reaching my developmental milestone and was suspected to be a developmental delayed child. My parents were told when I started school, that regular education classes would have been too quick for me. While it later appeared that regular Ed was too quick for me, I started going to school within the special education classes. I was put in a special needs classroom FULL time speech and language support, apparently I had developmental concerns in regards to my speech and language development, motor skills development such as when I first learned to walk. As time went on it seems that I was a bit higher functioning than I lot of my peers in these classes, while the regular classes would still be too quick. I was like the middle person, not being able to fit into any category, and I was unique and different. I was a transfer student through out my schooling due to special education classes, I would live in one area and a mini bus would come pick me up and I’d go to school in a different district than the one I was living in up until middle school. I went to about 6 different schools by the time I was done, never had the time to make friends I would lose touch with eventually due to constantly moving schools. I started getting ill by the time I was 9 years old, which started with occasional “dizziness “ however infrequent at the time, it didn’t mess to much with my daily functioning. These “spells” would happen about once a month. By the time of middle school and going into high school, they became more bothersome, as they started happening more frequently and associated with vomiting, looking as if drunk, nausea, headaches, abnormal ocular movements, poor balance and coordination, crossing eyes, as well as double vision. I would tremble and shake and have tremors during these periods. I would see doctors and doctors, specialist after specialist, test after test, neurologist after neurologist, and they would claim all my tests were normal, that there wasn’t anything wrong. It was then thought to be anxiety so I seen a psychiatrist but put on meds without successful eliminating my symptoms. I became anxious and depressed over my condition that no one could pinpoint. It seemed like a total MYSTERY.. or some sort of mystery illness no one could figure out for years. It felt as if I was imagining it or that it was “in my head “ and many doctors made me feel this way. I’ve had times or issues with emotional regulation and ended up being hospitalized several times due to that. In 2005 , I was put through a limited amount of genetic testing for hereditary Ataxias caused by repeat expansions, genetic mutations by Athena diagnosis. However, the results came back inconclusive for a variant found in the gene PRK CG which is responsible for a type of ataxia called spino cerebellar ataxia type 14 or SCA 14. The results were uncertain that I had that form of ataxia, due to the variant found that they weren’t sure about. Later on when going through my second round of genetic testing, I found out it wasn’t significant for my symptoms. I was tested for the common type of Ataxias caused by repeat expansions. In 2009, I was suspected to have a rare and unusual form of ataxia called Episodic Ataxia type2.

What is episodic ataxia type2?

This ataxia is characterized by prolonged bouts or spells of poor balance and coordination, nausea, vomiting, dizziness and vertigo, headaches, tremors, abnormal ocular movements, double vision, muscle weakness and fatigue. In between these episodes, which typically lasts from hours to days, individual may develop permanent cerebellar atrophy and nystagmus.

This condition has put me in a wheelchair in periods of being totally incapable of walking. In school, the nurse would frequently need to get me a wheelchair to take me where I needed to go such as the bus at the end of the day. In 2009, while I was suspected to have this form of ataxia, I was prescribed a medication called Diamox to help control my symptoms of dizziness and nausea. It doesn’t take away every symptom I have from my ataxia so it seems and treatment options are limited for this ataxia. Even though more of the dizziness is under control, I still notice I have frequent balance issues, whether it’s stumbling or periodically losing my balance while turning around corners and running into the side of the wall. I have collapsed or fallen before in physical education in school and eventually had to get a doctors note to not participate in gym classes as it was a triggering factor of my condition. I also have to stay away from caffeine as it’s been a triggering factor, watch the heat in the summer time. By March of 2020, I had a severe “attack ” in response to an anti seizure medication that was given to me by a prior neurologist to help my vertigo, and after taking the medication one morning, I started putting my shoes on as we were about to go out for breakfast, and I suddenly couldn’t put on my shoes. I was uncoordinated in my arms and hands and so weak it felt like I was paralyzed. Luckily I was already sitting in a recliner chair when symptoms started coming about and I just laid back, started breathing real heavy and at first looked like a panic attack. But then as I laid back, I started jerking and jerking almost as if I was having a seizure like episode. I couldn’t control these muscle contractions but I remained couscous through the whole thing. The paramedics was called and then arrived, and I was still counscous but as they were asking me questions, I physically couldn’t respond. I couldn’t talk, Towards the beginning of the episode, I started slurring my words, but it progressed to inability to respond to the paramedics. As I couldn’t walk, I was lifted out of the house and into the ambulance and taken to the emergency room where I stayed for quite a few hours. They ran tests, and it was found I also had low potassium in the blood, so I was given treatment for that. On September 2020, I was finally transferred back to the same neurologist in Pittsburgh that’s been dealing with my family’s condition for years with Ataxia at UPMC. It was the same office that suspected I had the condition back in 2009, but I was seeing a different doctor there. It was explained to me finally that I have midline cerebellar atrophy on my MRI’s and it goes back to at least 2008, and every one else claimed I didn’t have it or anything wrong. So it was a bit of a shock to me and have made progress in discovery since then. Though cerebellar atrophy tends to be degenerative meaning the nerve cells within the cerebellum deteriorate or die, which is usually a progressive condition, mine showed no significant changes between the period of 2008-2017 but up to this actual date , as of September 2021 though, it had worsened. My neurologist referred me to a Geneticist to find my gene variant for ataxia. On December 28 2020 I finally did my genetics testing for ataxia, and was tested for up to 1000 different genes that cause ataxia related to point mutations, deletions and missense mutations by gene DX . After nearly 2 months of waiting on the results, it came back as being “likely pathogenic “ and positive for a CACNA1A related disorder, Episodic Ataxia type2. I was finally thrilled I was able to get the validation, and the confirmation on my form of ataxia. Even though my variant is currently labeled as “ likely” there has been multiple people that have the same variant in literature that have Episodic Ataxia. My genetics team feels pretty confident that it’s the answer but the answer isn’t still 100 percent certain however being LIKELY it means there is a very high chance that this variant is DISEASE CAUSING my ATAXIA. I’m recommended to follow up with my genetics team in a few years to make sure this variant upgraded from likely pathogenic to pathogenic (100 percent guarantee disease causing variant) My variant within the gene CACNA1A is c.835C>T p.R279C autosomal dominant inheritance 50 percent chance.

What are some signs and symptoms of CACNA1A mutations? Cerebellum atrophy Seizures Eye movement disorders Developmentally delays Autism spectrum disorders Intellectual disability Ataxia (SCA 6) Hemiplegic migraines Episodic Ataxia type2 

Walking during episodic ataxia episode vs walking after recovery