I am frequently asked how so much has happened to one person, and when it all happened! I thought it might be easier to give a quick snapshot with a timeline. I have hyperlinked where there is a corresponding blog entry, if you are so inclined.
- 1993-2009: HAPPY AS LARRY. Besides childhood asthma, honestly no health problems. I had glandular fever and it wasn’t even that bad, I was like, über healthy.
- February 2010: I’m in my last year of high school. My vision starts sporadically blurring over whilst I’m in class. It is completely disabling, but only lasts for 10 minutes or so at a time. The optometrist wants to run tests which freaks me out, so I do the only sensible thing I can think of which is refuse said tests and pretend there’s nothing wrong. This strategy works for me, and after a month my vision is back to normal.
- September 2012: Randomly start going completely blind in my right eye when I go running… And shower… Realise it happens whenever I get hot. Found to have optic neuritis and admitted to hospital under neurology. Lesions found on my brain. Diagnosed with a rare paediatric neurological disorder called acute disseminated encephalomyelitis. 95% of vision returns to normal after a nice big dose of methylprednisolone!
- September 2013: New lesions found on brain. Diagnosis changed to relapsing remitting multiple sclerosis. MASSIVE sad face. Start the Disease Modifying Therapy Tecfidera.
- May 2014: Lymphocyte count dangerously low = PML risk high. Pulled off Tecfidera.
- July 2014: Start Gilenya. LOVE IT. It doesn’t hurt my tummy like Tecfidera did.
- June 2015: Covered in bruises. Bleeding a lot. What’s that? Oh I have no platelets. My relationship with haematology begins. I spend a night in hospital, am started on high dose steroids and am pulled off Gilenya.
- July 2015: Diagnosed with 2 types of gynae pre-cancer. Woohoo. 😐. I have laser surgery to zap the abnormal cells.
- August 2015: Platelets are back to normal and I feel less like porcelain. I start Tysabri.
- September 2015: Really struggling to breathe. Think it’s probably just a chest infection with a smidge of asthma, have second dose of Tysabri. Am sent for x-ray and CT of my lungs. GP looks at my scans and goes WTF.
- October 2015: Tell neuro about my pre-cancer. He says oh hell no and pulls me off Tysabri. My immune system needs a break, so I move onto a weaker drug called Copaxone.
- November 2015: See the respiratory physician who thinks I have sarcoidosis. I have a bronchoscopy which rules out sarcoid. OOPS just having another horrible DMT reaction. My doctor calls it “Tysabri-induced interstitial lung disease/non-specific interstitial pneumonia”. Lucky I’ve already stopped Tysabri! In the absence of Tysabri and back on steroids my lungs improve.
- March 2016: My stomach is giving me constant grief. I freak out that it’s a reaction to Copaxone, but concede my problems started long before Copaxone. I’m referred to a gastroenterologist and a gastroscopy/colonoscopy confirms a rare form of inflammatory bowel disease called lymphocytic colitis. Start on a new steroid called budesonide. My life is steroids. Glad it’s not Copaxone’s fault though.
- June 2016: New brain lesions on my annual MRI. I am shattered. Neuro tells me Copaxone isn’t working but there’s no other drugs suitable for me on the market. We agree that I’ll wait for a drug called Zinbryta to be approved for the Australian market and then I’ll move onto that.
- August 2016: Pre-cancer is back 😥 more laser surgery.
- February 2017: I start on the product familiarisation program for Zinbryta. My first few doses go great.
- May 2017: Hands are becoming intermittently paralysed. Entire body is stiff and tingly. Feel HORRIBLE. Blame MS and don’t think too much of it. At the same time my pre-cancer is back AGAIN. I go in for more laser. A day later I am struggling to move my arms altogether and can feel my legs following suit. I go to emergency expecting steroids and muscle relaxants for my MS and am instead found to have severe hypokalaemia, hypomagnesia and hypocalcaemia. Who knew an electrolyte imbalance could be so serious! Admitted to ICU. I also have a chest infection (story of my life, I ALWAYS have a chest infection). An immunologist happens to be working in the ICU and takes a look at my medical history of constant infections, precancer and autoimmunity. All that time I’d been telling people “my immune system is really really crap” I was right! I am diagnosed with a primary immunodeficiency (ie. genetic, HIV is a secondary immunodeficiency) called CVID.
- June 2017: Am about to move to London for a working holiday. Decide to have a full health blitz first and have a skin cancer check. A mole is removed from my left ear and diagnosed as melanoma. At the same time this is happening, I am completely nauseated and can’t keep food or water down. I think it might be stress-related because of the melanoma, but am freaked out about electrolyte imbalances and feel so unwell that I present to emergency. Bloods come back showing that I have severe neutropenia. There goes my move to London. I am isolated and kept in hospital for almost 2 MONTHS until my little neutrophils decide to come back. My doctors organise genetic testing to work out what the hell is going on in my bod.
- August 2017: FINALLY DISCHARGED. Have a bajillion outpatient appointments and spend most of my time eating because my GI tract shut down whilst I was neutropenic and I am so thin I look ~gross~.
- September 2017: Have wide excision surgery on my ear to remove melanoma margins. The margins are pathologically confirmed as clear of melanoma.
- October 2017: Everybody warns me that genetic testing probably won’t find anything. They are wrong. My results come back and reveal a CTLA4 gene mutation. AN EXPLANATION FOR EVERYTHING!!! My immunologist applies for me to begin a synthetic version of the CTLA-4 protein called abatacept.
- November 2017: Prednisolone yaddy-yah I love you and all that but damn you mean to my bones. My DEXA scan shows I now have osteoporosis. My plight to becoming an elderly woman in my 20s is progressing smoothly.
- January 2018: Find a small lump behind my left ear. It’s growing quickly. A bunch of tests confirm that my melanoma has metastasised. FML.
- February 2018: My immuno and haem decide my immune system has unravelled completely and can’t be fixed up with drugs anymore, I need a stem cell transplant to replace my mutated CTLA4 gene with a donor’s. The search for a donor begins. I have a modified radical neck dissection to remove the melanoma in my neck. The surgeons are unable to get clear margins. This freaking sucks.
- March 2018: I finally begin abatacept!!! I ❤ CTLA-4. A few weeks later I begin 20 fractions of radiotherapy to try and control the disease left in my neck.
- April 2018: 2 months after the stem cell donor search begins, it ends. There is no match for me anywhere in the world on a database of millions. I am absolutely heartbroken.
Where to from here? Who knows. Follow along and find out with me 😘