Some of you may be aware of my girlfriend Nicola Jeffery’s story. Many will be aware of her seizures. Now I believe I may have worked them out. But it’s going to cost to prove this. And we need some financial help from the public.
A complex picture
You can read all about Nicola’s medical story here. In short, she lives with:
- Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder (hEDS/HSD): diagnosed in 2017 as hEDS, updated in 2018 to HSD due to change in diagnostic criteria, then re-diagnosed as hEDS in April 2019.
- Myalgic Encephalomyelitis (ME): diagnosed in 2018.
- Postural Orthostatic Tachycardia Syndrome (POTS): diagnosed in 2018.
- Deformations in left foot, left leg shortness: diagnosed in January 2019.
- Polycystic Ovary Syndrome: diagnosed in 2011.
- Temporomandibular Joint Dysfunction: diagnosed in 2008.
- Craniocervical Instability (CCI): diagnosed in March 2019.
- Atlantoaxial Instability (AAI): diagnosed in March 2019.
- Hypotension: diagnosed in March 2019.
- Megaloblastic Anaemia: diagnosed April 2019.
- Peripheral Neuropathy: diagnosed April 2019.
- Chronotropic Incompetence/Intolerance: diagnosed May 2019.
- Hypothyroidism, diagnosed May 2019.
- Mycotoxicosis via four different mycotoxins: diagnosed May 2019.
- Non-epileptic tonic clonic seizures with apparent focal autonomic aware prodromals: present for at least a decade. Formally first assessed in 2011. Originally put on Lamotrigine. Rediagnosed as non-epileptic in 2018.
- Presence of Cytomegalovirus (CMV) and Epstein-Barr Virus (EBV): reported via bone marrow trephine biopsy in 2018.
I gave up work full time to support Nicola. You can read more about that decision here. In short, we are currently on a complex treatment plan for the ME. This is starting to show some results, with improvements across various clinical measures. But progress is slow.
What we still haven’t got to the bottom of are Nicola’s seizures.
Seizures: blighting her life
This is one of them:
She had one this morning (Wednesday). They have blighted her life for many years and no neurologist can work out what’s causing them.
At first, she was told she was waking up incontinent and in severe pain due to the birth of her child, and her now incorrect diagnosis of Fibromyalgia. Her previous partner witnessed a few of them. Her son, a toddler at the time, even had to call an ambulance during one episode.
But since we have been together, I have documented them fully.
The challenge for Nicola is multi-stranded. She lives with ME and hEDS, which makes her muscles weak and prone to exhaustion after exertion. Having a seizure, where her whole body contorts and strains, has a devastating effect on her. It leaves her effectively incapacitated for up to five days.
They severely impact her already damaged cognitive function. She has chipped many of her teeth and due to the hEDS her bottom front ones are now extremely loose. Moreover, she is of course at risk of Sudden Unexpected Death in Epilepsy (SUDEP).
Now, I think I know what is causing them. But to get it properly diagnosed, we’re going to need some help. This is in the hope that we can rid Nicola of one of the most distressing aspects of her illnesses.
In short, she lives with Hypocapnia, also known has Hypocarbia. This is essentially below-normal levels of carbon dioxide (CO²) in her blood. We discovered this during a two-day Cardiopulmonary Exercise Test (CPET).
Hypocapnia has two major effects. It firstly reduces arterial blood pressure. We know Nicola’s blood pressure is already hypotensive. Secondly, it causes Respiratory Alkalosis, where the blood becomes too alkaline. Normally, Hypocapnia is caused by hyperventilation. But due to the CPET testing in Nicola’s case we know this is not the cause.
What I think it happening to Nicola is the following:
- Her mitochondria dysfunction, Chronotropic Incompetence and Megaloblastic Anaemia are causing cardio and pulmonary dysfunction. We know from various testing, for example, that Nicola’s mitochondria fail on minimal exertion and that her red blood cells do not carry oxygen around her body correctly.
- Specifically, she has Ventilation/Perfusion Mismatch, where a part of her lungs get oxygen without blood flow or blood flow without oxygen.
- This results in Hypocapnia.
- It then causes her blood pressure to drop extremely low, probably due to vasodilation. It also causes her blood to become very alkaline.
- The knock on effect is restricted blood flow to her brain. This is known as Cerebral Hypoperfusion.
- This vasoconstriction leads to the seizures, both the focal autonomic aware and tonic clonic ones.
We know there is a link with her blood pressure. I’ve identified that the night before she has a seizure, her systolic/diastolic blood pressures drop by, on average, 8% and 19% respectively.
So, we can now predict when she will have one or both of her seizures. But I do not have definite answers.
Another long journey
To get these, and finally rid her of these distressing episodes, we will need to find a neurologist, cardiologist, haematologist and pulmonary expert who are willing and open minded enough to do all the necessary testing. It will involve more blood tests, and numerous diagnostics the night before, during and after a seizure.
None of this, from my theoretical diagnosis to the investigatory work, is available on the NHS. Nicola’s seizures have already been labelled “psychosomatic” and “functional” (ie. all in her head) by several neurologists. We will not get help there.
Most of Nicola’s treatment is now private, due to the lack of recognition and clinical care for her illnesses on the NHS. You can read more about that here. We currently have the money to fund this.
But to investigate Nicola’s seizures fully we need help. It’s an unbudgeted expense in her treatment plan.
We need your help
So, we are asking people to donate via my PayPal to support us in trying to get to the bottom of this. Once I have an idea of cost I’ll publish this. I know a standard consultant appointment will be at least £250-£300.
We both understand how hard things are for many people at present. But anything you can donate would be greatly appreciated.
Nicola’s life has been blighted by chronic ill health for too long. If we can solve her seizures, then one aspect of her complex and debilitating medical picture will finally be resolved.