For those of you following my medical adventures, I realize there hasn’t been an update since my hospital admission in May.
As you may have read, I have been extremely busy with life, enjoying time with Elliot, my family and traveling! September gave us great memories, with a trip to Bournemouth to see Helen Josh and Sam (friends from secondary school) and a trip to the Cotswolds, where we saw the Arachnoiditis UK group and stayed at Katherine’s manor.
September also bought movement with my health care in many areas. I know that a lot of people will take any chance they get to slam the NHS, but to be honest, I cannot fault my care so far.
As I’ve explained in earlier posts, Marfan Syndrome affects the connective tissue, therefore affects many different organ systems. This means I see a number of specialists: a cardiologist, a rheumatologist, a geneticist, a neurosurgeon, a urologist, orthopedics, orthotics, physios, and therapists. Luckily for me, most of my care now takes place at one clinic at John Radcliffe hospital, which is specific for marfan and related disorders. The doctors and nurses at the clinic are super friendly and helpful.
I recently learnt that I haven’t been genetically confirmed for Marfan Syndrome. This means I am still clinically diagnosed, but I’m now under a series of tests to see which connective tissue disorder I have, and to see what Gene my mutation is on. This doesn’t change my health as such, but may be a pointer for management. If my results come back as negative (as in I don’t have a known mutation) I may be able to join the 100k genome project! This means they literally look at all 22,000 of my genes to find a mutation (and screen both of my parents too). This could help other patients if a new common mutation is found, or create a new condition. Those of you who know me, know that I am a geek and therefore ridiculously excited to be able to have this opportunity!! My doctor told me that this time last year I would have had to sell my Grandma to pay for the testing, but now they have been fully funded – so my timing is incredible.
Another step forward has been developments with the yucky muscular skeletal side of things. I have been accepted into a world-renowned program for people with hypermobility disorders – where I’ll stay in hospital for a 3 week program to better manage my frequent dislocations and muscular complications. The hope is that with intense physio I can gain core muscles so that my shoulder muscles (which are currently always switched “on”) can be released and my shoulders set in the right place! This will not only correct my hunch- back but also hopefully relieve my headaches and stop the daily subluxation (partial dislocation) of my shoulders and sternoclavical joint (which are extremely painful to say the least!)
Looking ahead I will have 6 monthly scans on my heart, as my aortic valve is leaking, and I am at risk for further dissection of my aorta (but this is a relatively low risk!) I am on the waiting list for the hypermobility program, and I guess that appointment will come in about a years time (it’s a minimum 30 week waiting list!) – so there won’t be any updates on that front for a while! I am in weekly physio here gaining as much muscle as I can while I wait.
I have also just finished a course of Cognitive Behavioural Therapy (CBT) which has given me some vital tools in coping and living with the ongoing effect of PTSD and anxiety.
I really feel that my well-being has significantly improved in the last couple of months. Yes, I still have daily dislocations, a leaky heart, chronic fatigue, back pain and bad posture – but I am on the right road!
Both Elliot and I feel reassured that we made the right decision to come to England. Not only do we get to see family on regular occasions, we have made some stellar friends and joined a loving church community, Elliot has a fab job, and I have had time to recover to make sure I start the next leg of my journey (which will include working!) both rested and well! Compared to my puffy steroid face and sick body this time last year, I am doing so much better.
I am so grateful for each and every health professional who is positively contributing to my care, and for my entire support crew, who are still with me no matter where they are!!
Over and out til next time,
Ps keep a look out for my next post which will include our latest travel escapades!!