Conors Journey

My name is Conor, I’m 22 years old and I’m desperately requesting your help to save my life and give me a better quality of life.

I wanted to explain in detail my story to give you a better view of the situation I am in.

As a child I was in reasonably good health with little to indicate the way in which things would work out later on. From a  teenager I had known something wasn’t quite right as I noticed my energy levels weren’t what you would expect for a young person and to cut a long story short, I had proteinuria which is protein in the urine which led to me having a kidney biopsy done in Galway in November 2017 which showed I had a form of kidney disease called IgA Nephropathy. 

From around the same time I was experiencing a lot of back pain and pain in various joints around the body that I did describe to doctors at that stage but it was simply put down to growing pains. I was also experiencing chronic constipation at the time that came to the stage of me being completely unable to pass a bowel motion. I had to be put under general anaesthesia to have my colon manually evacuated/ emptied on several occasions in both University Hospital Galway and the Mater Hospital in Dublin.

Eventually in July 2019, a colorectal surgeon in the Mater Hospital decided that it had gotten to the stage that all other available options were exhausted and that she thought that an Ileostomy (a stoma bag) would be the only option left to improve my quality of life and it really did improve things with the gut, at least for the most part apart from the pseudo obstructions I get. However, when the bladder started to dysfunction in November the same year things became more concerning. At this stage the Neurology department in the Mater hospital were asked to become involved in my care and they then referred me to the care of Neurologists in Queens Square in London which found there was numerous issues going on, in particular my Autonomic Nervous system was dysfunctional and I was diagnosed with Postural Orthostatic Tachycardia Syndrome or POTS as it is abbreviated as. I was also diagnosed with Enteric Dysmotility of the small intestine that continued to cause pseudo obstructions of the small intestine which usually involve many trips to A&E. I also have to self catheterise daily as again, the Autonomic Dysfunction also affects my bladder along with the Intestines, heart, BP etc.

I was diagnosed with a condition called Ehlers Danlos Syndrome or EDS for short by my rheumatologist in the Mater and this was equally confirmed by the consultants I seen in London and Barcelona. EDS is a genetic connective tissue disorder that is more common than doctors acknowledge and is also not as well understood as it deserves to be. In fact Rodney Graham a now retired Rheumatologist in London who was regarded as a pioneering advocate for patients with EDS once said “No other condition in the history of modern medicine, has been neglected in such a way as Ehlers Danlos Syndrome”. 

As a result of the EDS diagnosis, I found out that many of the joints throughout my body are hyper mobile which means they hyperextend much further than they should and that this was the cause of joint pain that had been an issue for some time at this stage.

To give you an idea, Hypermobility is scored using what’s known as a Beighton Score which is scored out of 9 and the higher the figure you score clinically, the more hypermobile you are. I was diagnosed with a score of 9/9.

From March 2021 my neck was really painful and I was getting head drop which was diagnosed as Anterocollis. This continued to worsen to the extent that I was relying on cervical collars to prop my head up. As all this was going on I was getting worse as time went on. 

I have experienced worsening mobility as time went on. I was initially using one crutch, then two, then a forearm walker and I am now a full time wheelchair user, this all has progressed over the space of a little over a year.

I was advised to get an upright MRI of the Cervical Spine and Cranio- Cervical Junction which is where the skull meets the top of the spine. The benefit of the upright MRI is that it gives a more detailed picture of the spine when its weight-bearing as opposed to a standard supine MRI which doesn’t achieve this. The only disadvantage of the upright MRI was having to travel to Medserena in London to have it done as there is no upright MRI scanners on the island of Ireland. I then had to send the images of the scan to an expert Neurosurgeon in this field of connective tissue disorders. This is what led me to seeking out Dr Gilete’s help in Barcelona. I had a virtual appointment via Zoom with him in December 2021 to discuss his findings and that was when I heard I had Cranio-Cervical Instability (CCI) and Atlanto-Axial Instability (AAI) amongst other findings which was causing the tip of the spine, the C1 or Odontoid to compress my brain stem which as you can imagine is extremely dangerous and is life threatening as it disturbs the signals from the brain to your vital organs throughout the body to function correctly and should these signals be disturbed it can cause devastating complications such as going into cardiac arrest.

Dr Gilete also at that stage suspected a Tethered cord in my lumbar area of the spine which would explain the bowel and bladder symptoms as well as the tremors in my left leg. This however, had to be confirmed by doing more tests and scans. This led to me travelling over to Barcelona in February where I was able to meet Dr Gilete in person for a detailed clinical examination and I also underwent more tests such as Spinal MRIs in both supine and prone positions. A MRV which is an MRI Venogram to get a picture of the many blood vessels in the brain and neck areas as these can also be effected by CCI and AAI. I had Neurophysiology testing done and also Cineradiology.

The tests did confirm Dr Gilete’s suspicions of Tethered Cord and on top of all this I was also diagnosed with Small Fibre Neuropathy.

The MRV (MRI Venogram) showed issues with the blood vessels in the neck, related to the CCI and AAI. It also showed a dislocation of my Atlanto-Axial joint during the scan which is known as Atlanto-Axial Dislocation or AAD.

As seen on MRV:

C1-C2 atlantoaxial dislocation (AAD).

Hypoplastic left vertebral artery (VA).

Right Vetebral artery (VA) in direct contact with medulla oblongata and mild distortion.

Left internal jugular vein decreased flow speed at the level of transverse C1 - digastric muscle possibly in relation to AAD at this side.

Lumbar prone and supine MRIs:

Occult Tethered Cord 

Roots clumping at L2-L3 and L3- L4 levels.

I will need to undergo two lifesaving surgeries in Barcelona over the coming months.

The first of which will take place on June 10th with Dr. Gilete in Centro Medico Teknon, a world class Neurosurgeon in a world class hospital in Barcelona, Spain.

The first surgery will be on my lumbar spine where my spinal cord has tethered to the vertabrae and the nerve roots in this area that provide the vital signals from the brain to important organs such as the bladder and intestines have become clumped and stuck together. The first procedure will de-tether the spinal cord from the vertebrae and the separation of the nerve roots that have become stuck together and also a multi-level fusion to stabilise the lumbar spine. 

The second procedure will involve a long cervical fusion to stabilise the instability from the base of the skull and will involve metal rods and screws being implanted from the base of the skull down the neck to fuse the spine and skull in this area, similar to what is being done with the lumbar spine. The lumbar spinal surgery has to be done before the cervical spine and the recovery will likely take several months from the lumbar spinal surgery. 

Whilst these procedures are no doubt high risk, the potential benefits outweigh the risks and also will avoid further deterioration which would have dreadful consequences.

I greatly appreciate your help and generosity to make this happen. I will continue to update you all via the Conor’s Journey Facebook page.

Thank you.