Kayley was 4˝ months when one Sunday she was more irritable than usual, lethargic not feeding well. Later that evening that I realised that she had hardly fed the whole day. She was very floppy and listless. I contacted the clinic; they tested her for malaria and noted that she was slightly dehydrated,but not running a temperature so we were sent home with a glucose solution! I noticed at the clinic that she seemed to be far away and staring into space and later she started making twitching movements at home. In retrospect these were absence seizures that we did not recognise. We had a terrible night only able to settle Kayley for short periods of time. The next morning she had not improved, I fed her expressed milk and glucose solution in a dropper before driving her to a suitable clinic in Lilongwe a 3 hr drive away.
The doctor took one look at Kayley and immediately set up a glucose drip for the dehydration and took a set of blood tests. Including a lumbar puncture and then medication for the seizures, which Kayley was now having regularly. A tentative diagnosis of viral meningitis was made, but she still did not have a temperature. Fortunately the doctor we saw is a UK trained paediatrician and she realised that Kayley's symptoms were not typical for meningitis. So we were air evacuated out of Malawi to South Africa. During the flight the glucose drip unfortunatly stopped running and the trained personnel were unable to put up another drip in the air.
So, Kayley became dehydrated again and as the seizure activity continued she became more unresponsive. She was admitted to hospital in South Africa weighing 4,4 kg, convulsing, dehydrated with metabolic acidosis, hypo tonic and unresponsive but with pupils dilated. Immediately a whole battery of tests were run again, drips set up and monitors attached in the high care unit. Kayley had a MRI brain scan done. This was the first indication that this was something more sinister. The scan showed infarcts or damage in the inner deep grey matter of her brain in a very symmetrical pattern. This pattern had not seen before the radiologists and paediatricians involved. We were told that they there were not sure what was causing this damage perhaps a metabolic problem or a viral infection. In the meantime Kayley was in status epileptics, which is that she was in a coma state due to continual seizure activity. It was terrible to see my precious child so unresponsive she just lying there; her eyes staring and making a lot of abnormal movements. I was alone as I had left my husband behind in Malawi with our oldest daughter.
I am now aware about the different types of seizures. Previously I had read all about febrile convulsions and presumed that a seizure was obvious twitching of limbs followed by a state of unconscious. But now I know that there are also absence seizures, which are more subtle and are characterised by twitching of one limb (normally babies will always move both limbs together), grimacing, yawning or staring into space for a moment.
The medical advice at this stage was to take each day one at a time while they searched for an answer and to correct Kayley's symptoms; the dehydration and seizures. This proved to be difficult as the seizures continued although many different anti epileptics were tried. As the seizures continued so her level of consciousness dropped. Kayley went into respiratory arrest and was ventilated; she was now in a critical condition. It just seemed to be getting worse and worse. I was devastated and terrified that I was losing her. My husband and daughter flew down on next available flight.
Kayley didn't look good. Her arms and legs were bruised from all the blood tests taken, monitors were attached to her body, her hair was shaved at the sides to put up drips and the ventilator tube was placed down her nasal passage and stuck on with surgical tape that obscured her beautiful face. Kayley's seizures still hadn't stopped so an anaesthetic drug was tried. We would have to wait to see if this would work and we didn't know how she would react to this drug. During this time, Kayley had a bad night; there was a problem with the ventilator tube because it had moved too close to the trachea. Every hour when Kayley was suctioned to remove secretions her oxygen saturation levels kept dropping. The paediatrician had to be called out to re ventilated her and cardiac massage was done! I did not know if she would cope with much more! Fortunately it was just a mechanical problem and Kayley's breathing was now more stable. An EEG was done to check on seizure activity and at last they had stopped! However Kayley was still unresponsive.
I was shattered in just week Kayley had gone from being ill to in ICU, on a ventilator and we didn't know why! She was this critical condition for almost a week then slowly she began to take a few breaths on her own! We couldn't believe it. Slowly she was weaned off the ventilator and eventually all the breathing apparatus was removed. We heard her little voice again although very hoarse from the tube passing over her vocal cords and when she cried for first time again I cried tears of joy. Although it was a cry of distress and discomfort; after all that Kayley had been through this cry was a sign of hope. We still did not have a definite diagnosis and we waiting for results from a metabolic screening. We didn't know what the abnormal brain scan meant and we didn't know how well she would recover. The areas of Kayley's brain that were affected were the deep inner grey matter, the basal ganglia, thalamus and also the brainstem. These areas control many of the subconscious functions; heart rate, breathing, muscle control, swallowing and appetite. But the areas for intelligence and personality the cerebrum and cerebellum were not affected. It seemed at this stage that Kayley would be physically handicapped. But it was still a waiting game to see how well Kayley would recover. This was so unrealistic. Our first child is so normal, what had caused Kayley to have this event? Virus? Some genetic metabolic defect?
Kayley was taken out critical care and seemed to be making rapid steps although we were told to take it slowly. Physio and speech therapy was started. Kayley was still very floppy (hypo tonic) and her sucking reflex was very weak so she was still fed by a nasogastric tube. She was showing signs of gaining some head control, she was now able to move her head from side to side although she had still bad head lag and had a some movement in her arms and legs. We started her on a physiotherapy program, I was taught how do the exercises and to repeat them often as possible. The staff had taken Kayley into their hearts, having seen her so ill and now to see her making a recovery was great. She was trying to smile at her favourite nurses and trying to do little talking noises that she was able to before she became ill. Although her muscle movements were not as before. She had come so far from that little body making all those funny movements associated with coma and seizure activity. Things seemed to looking up but we still had no diagnosis yet! As soon as I felt ready we could take Kayley home, that is to my mom's house as returning to Malawi was out of the question. She was still not sucking well and would be discharged with a nasogastric tube. I was adept at the feeding tube now, using a mixture of breast milk and Paedisure, a supplement plus vitamins and anti convulsants.
The results of the metabolic screen had shown some abnormalities but did not indicate anything conclusive. It seemed that the answer was with the abnormal MRI scan. But my priority at this stage was to get Kayley to suck or feed without the nasogastric tube. I was determined to do whatever was necessary. Before this happened I had wondered how I would have felt to have a disabled child, and did not think that I would be able to cope. Now I can definitely say that you love a child unconditionally and I feel that you love these special children even more to compensate for their disadvantages. Every day you have with them is special although I feel that quality of life is very important and that they should live without pain. This feeling would have great impact on difficult decisions we were to make later.
So we took Kayley home, without knowing why this had all happened. The diagnosis arrived soon after Kayley had been discharged. It was a presumptive diagnosis of Leigh's disease or syndrome. Our paediatrician didn't have much information other than there was no cure or treatment! The Internet became an invaluable source of information. I discovered that Leigh's disease or sub acute necrotising encephalopathy is a rare inherited neurometabolic disorder and is characterised by degeneration of the brain, spinal cord and optic nerve. The symptoms can begin between the ages of 3 months and two years. Symptoms are associated with the progressive neurological deterioration and may include failure to thrive, development delay, loss of previously acquired motor skills, irritability, hypotonia (floppy/weak muscles), unexplained seizures, visual and hearing problems, ataxia, mental retardation, respiratory disturbances, CT/MRI typical pattern, feeding difficulties and susceptibility to infections. The progress of the disease is at a variable rate and is characterised by a decline usually caused by viral or bacterial infection were the child will recover and sometimes regain some lost skills , but is usually followed by another decline. There is no cure for Leigh' s, the prognosis is very poor and treatment is merely to treat the symptoms and give dietary supplements. Although there is ongoing research into treatments to alleviate some of the symptoms and which would just slow the progression of the disease. Leigh's disease is more commonly described by the exact deficiency identified e.g. Complex I def, COX def. as diagnostic techniques improve. Leigh's is very rare with an incidence of 1 in 40 000 births.
Leigh's disease is part of a group of disorders called mitochondrial diseases . The mitochondria are the organelles inside each cell responsible for the creation of energy. Energy is produced by the conversion of glucose into a compound called ATP by a process involving many different factors and enzymes. This process is called the respiratory chain (nothing to do with breathing) or electron transport chain (ETC). If there is a fault with the mitochondria the cells do not have the energy to do the work required. So it affects the tissues that require the most energy; the brain, the nervous system, the skeletal muscles and the eyes muscles. If the cells do not have the necessary energy to work they will die or become dysfunctional hence wobbly eyes, weak muscle tone and neurological symptoms like seizures and developmental delays. The reason for the fault in the ETC is usually genetic, that is the genes that control the production of a certain enzyme or factor is altered or is mutated. Genetic code is inherited. The genetics of mitochondrial disease is very complicated and is dependent of the exact deficiency in the ETC. But inheritance can be autosomal recessive, X linked, maternal or a spontaneous mutation. Some of the names of other mito disorders are MELAS (mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes), MERFF (Myoclonic epilepsy ragged red fibres), LHON (Lebers hereditary optic neuropathy), Complex I, II, III, IV or V deficiency, PDH deficiency (pyruvate dehydrogenase), NARP (neuropathy, ataxia, retinitis pigmentosa)
This was devastating news and the more I read the more that Kayley's symptoms were fitting in with this picture. I took her to an ophthalmologist who detected optic atrophy, another symptom and this could mean that she would become blind but I was sure at this stage that she could see! But I was too busy with physio, doctors, lab appointments, trips to hospital to change Kayley's nasogastric tube, expressing milk, and looking after a busy 2 year old to dwell too much on the horror of the diagnosis. I was coping and carrying on for the sake of my two beautiful daughters. I was gathering as much information as I could and we were looking into a trip overseas to see specialists.
Then again Kayley became difficult to rouse for a feed, unresponsive and very hypo tonic again. I had noticed pus in her nappy a few days before but nothing untoward was detected at a visit to her paediatrician. I was not happy with her breathing pattern so she was re admitted to hospital only 3 weeks after being discharged! A urinary tract infection was detected and she was put on intravenous antibiotics. More blood tests and drips again! Her oxygen levels were monitored. Kayley appeared to be stable but unresponsive. But 8 hours later her temperature shot up and her oxygen levels started dropping. That evening she went into respiratory arrest again and at our request was ventilated. The paediatrician asked me if we wanted ventilate her, as her prognosis was so poor. It was terrible to hear this said out loud. My husband had flown down and that evening we made the agonising decision that Kayley would not be resuscitated again. She was back in ICU hooked up to drips, monitors and in a critical condition again. We were in despair, and when we saw her try to pull away as they tried to take bloods, it was too much to bear. Our baby could still in some way feel pain even though she was totally unresponsive. We then decided to repeat the brain scan and the result showed that the area of damage had increased significantly in just 6 weeks and had grown in the brain stem. What future was there for Kayley, a life of hospitalisations, painful blood tests, no hope of talking, sitting or even walking and certain developmental retardation? A life full of pain and suffering. It was not the kind of life that we had envisioned for her. We then made a decision that no parents should have to make, we decided to wean her off the ventilator and Kayley died in my arms from respiratory failure at 16h30 on Saturday, 23 September 2000 . She was 6 months and 7 days old.
Kayley we will always love and miss you.
We decided to have a post mortem done to confirm the diagnosis and to donate Kayley's organs. Because of her diagnosis only her corneas where harvested. Kayley's remains where cremated and we decided to keep them.
Since Kayley died we have had a tough year coming to terms with all the happenings. In retrospect a lot Kayley's behaviour and symptons can now be explained and I only wish that one day, all metabolic defects will be able to be tested by a simple routine blood test, done soon after birth like the TSH test.
We have been very disappointed by the information about mitochondrial disease available in South Africa. Hence we also have not been able to find the exact deficiency or mutation that caused Kayley’s mitochondria to fail. This is largely due to the lack of information and also to the pathologist that performed the post mortem, his lack of knowledge and inability to look for further information! Therefore we still do not know definitely what the exact genetic risks are for a future pregnancy or for our family although at this stage it is presumed that inheritance is autosomal recessive. This means that Bruce and I both carry the gene but do not show any symptons and any child conceived would have a 25% chance of being affected.
I have done a lot of research on mitochondrial disorders and have been trying to contact South Africans affected. Please email me if you have any further information.