MEDICAL INFO

At present we do not have an exact diagnosis for Sophie. Samples of her thigh muscle and skin fibroblasts along with her DNA are currently being studied in laboratories across the UK in London, Newcastle and Oxford. What we do know is that Sophie has a 'Vacuolar Myopathy Secondary to a Mitochondrial Cytopathy'. Essentially this means that amongst other problems, her muscles are full of tiny little holes (vacuoles) which are causing her weakness. There is no doubt that whatever is happening is progressive and the amount of vacuoles are increasing, making her weaker.

The vacuoles in Sophie's muscles are due to an abnormality in her Mitochondria. Mitochondria are the 'powerhouses' within every cell of our body except red blood cells. Mitochondria have their own set of DNA seperate from our Nuclear DNA (Nuclear DNA carries our genetic information). Abnormalities in Mitochondria can be due to malfunctions in mitochondrial DNA or they can be due to malfunctions in Nuclear DNA - this makes finding an exact diagnosis extremely difficult.

Mitochondria convert the food we eat and the oxygen we breathe into energy through a chain of events known as the 'Respiratory Chain'. The Respiratory Chain consists of five stages called 'complexes'. People suffering from Mitochondrial Disease often have a problem with one or two complexes, unfortunately Sophie has a problem with all five complexes. This partly explains why she is so acutely affected at such a young age.

Sophie's current symptoms are listed below:

		Generalised Hypotonia
		Sophie cannot hold her head or sit up. She has limited movement of her arms and legs and her trunk muscles are extremely weak. She also has weak facial muscles (Myopathic Facies).
		Tracheostomy & Long Term Ventilation
		Due to her hypotonia sophie has a tracheostomy and is permanantly connected to a ventilator to help her breathe. Sophie does breathe on her own, but her lack of muscle power prevents her from breathing deeply enough to fill her lungs with air. Sophie was weened from the ventilator for 12 hrs at a time during her last stay at St Georges, but this resulted in a collapsed lung and so the decision was made to keep her connected.
		Bulbar Palsy
		Sophie cannot swallow (Dysphagia) and therefore does not take food or drink orally. She is permanantly fed through her gastrostomy (a feeding tube directly into her tummy). Because of her lack of swallow Sophie pools saliva at the back of her throat, this is a big problem and she needs lots of suctioning to clear her airway. Sophie Also has Bilateral Vocal Cord Paralysis, this caused her stridor which was the presenting symptom of her illness.
		Autonomic Instability
		Sophie suffers from high blood pressure, tachycardia, excessive sweating and temperature regulation issues. At one point Sophie was on 4 different medications for her hypertension and it was still not under control. Sophie has high levels of Noradrenaline in her body which is thought to be causing her hypertension.
		Gastroesophageal reflux
		Sophie suffers from Gastroesophageal reflux (stomach acid leaking into her Oesophagus). This causes her to be sick during and after feeds which is a problem that can lead to aspiration pneumonia. She is now on 3 different medications to keep it under control.

Thus far, Sophie's Neurologists, Genetecists, Biochemists, Intensivists and whoever else has been involved along the way have struggled to link her Hypotonia, Bulbar Palsy, Hypertension, Autonomic Instability and Investigation results together into one unifying cause. It is now thought that she is the victim of a type of Mitochondrial Disease that has never before been seen.

Despite Sophie's physical problems, she remains a bright and alert little girl. She is completely aware of her surroundings and her cognitive ability is about right for her age. She is starting to make noises by using the leak from her trachy and she definately lets us know what she likes and dislikes. She is starting to be very good at copying, she blows kisses, shakes her head, squeeks and blinks when we do the same. She also wiggles her bum when her nappy is dirty!

Further Information about Mitochondrial Disease

What is Mitochondrial Disease?

Mitochondrial Disease Frequently Asked Questions

Mitochondrial Myopathies Frequently Asked Questions

Symptoms of Mitochondrial Disease