SAM'S STORY

Our second son Sam was born in December 2010 and he was a healthy, happy baby. He was breast fed for the first couple of months and continued to thrive. We switched to formula feeding when Sam was eight weeks old and almost immediately he became irritable and had periods when he was very distressed and obviously in pain. Sam was referred to a consultant paediatrician, who suspected Colic and told us it would probably pass within a few weeks. Things however got worse and feeding Sam was proving to be increasingly difficult. He followed the same pattern with every feed; he would take 2 ounces of his formula, then get very distressed and refuse to take any more. By this point we were spending most of our day just trying to get Sam to feed and life was becoming increasingly stressful for the entire family. Sam was again seen by the consultant paediatrician who now suspected acid reflux and Sam was prescribed medication which we hoped would resolve the problem.

The situation however did not improve and we were convinced that there was something seriously wrong with Sam. There were times when Sam just point blank refused his bottles, so in an attempt to convince someone that Sam’s problems needed further investigation we made regular visits to the local hospital paediatric department.  It was extremely frustrating as we would see a different doctor each time and they were generally quite dismissive, telling us it would pass in time and that he appeared to be fit and well. Eventually however, after much pleading a community nursing team was sent to our house to assess the situation.

The community nurses were excellent, they noticed straight away that Sam was floppy for his age and had very poor head control. They also noticed that Sam’s eyes were drooping and he had a “drunk” look, which we had noticed a few days earlier but had not been overly concerned as it had passed after a sleep. The nurses sent an urgent report to the paediatric consultant and Sam was referred to a Consultant Neurologist. At five months old Sam was diagnosed with a neuro-muscular condition called Congenital Myasthenia, which although serious it is generally not life threatening and it is treatable in most cases with medication. We were relieved that we at last had a diagnosis and Sam started treatment immediately.

Our relief however was short lived, things did not improve with the new medication, and feeding remained a huge problem. Sam had now moved onto solids and because he was a very fussy eater, we tended to give him the foods he liked, which were mostly pureed fruit, baby yogurts & porridge. Each meal could take up to 2 hours, with one of us spooning in the food and the other trying just about anything to distract him from the fact he was being fed. We would dance, sing, bang drums, juggle, anything to distract his attention from the spoon. But nine times out of ten Sam would finish his meal and then vomit the whole thing up again, we were becoming increasingly stressed and worried.

In August 2011 when Sam was 8 months old his consultant neurologist was beginning to doubt his diagnosis and Sam was given nerve conduction tests which ruled out a diagnosis of Congenital Myasthenia. We left the hospital unsure if we had just been given good news or bad news.

Two days later Sam became unwell, his eyes were drooping, and he was uncoordinated and at times unresponsive. While drying Sam after his bath he suddenly went rigid and appeared to be having a seizure. We were terrified and rushed him to the A&E department of Yorkhill children’s hospital where he had another seizure. Sam was admitted and the following day he underwent a series of tests, including an MRI Scan, blood tests, urine tests and a lumbar puncture. We were taken into a side room and told that the MRI scan had revealed that Sam had lesions on the Basal Ganglia area of the brain and that he also had raised lactate levels in his spinal fluid and that this combination of symptoms indicated that Sam probably had a metabolic condition or more likely a Mitochondrial disease. A lengthy explanation of Mitochondrial disease then followed, but to be honest most of what was said went straight over our heads. We were told that Mitochondrial disease was a life limiting condition and that Sam was likely to have a significantly shortened life span. We were obviously devastated.

In December 2011 Sam’s diagnosis was confirmed as Pyruvate Dehydrogenase Complex Deficiency (PDH Deficiency), which is a mitochondrial disease. We were told that Sam’s prognosis was poor and our own research has been very grim reading. We were warned that the biggest dangers to Sam are viral illness and raised lactic acid levels. Carbohydrates can be very dangerous to Sam, which is why the high carbohydrate diet which we fed Sam as a baby was making him so ill. He is now on a Ketogenic diet which derives energy from fat rather than carbohydrates, and this should reduce the build up of lactate acid in Sam’s body.

We are acutely aware of the dangers of illness to Sam, and we have spent the last 18 months trying to shield him from the normal childhood illnesses, which most children shrug off but could be potentially catastrophic to Sam. But as all parents of children with mitochondrial conditions are aware it is impossible to completely avoid illness (especially if like Sam you have a six year old brother), and over the past year Sam has had several colds, croup, and the Norovirus and he has come through them unscathed. Sam is two years old now and he is progressing better than anyone could have expected. He can speak around ten words, can pull himself into a standing position and he can now walk about twenty steps unaided. He is probably around twelve months behind in his physical development but we are delighted with his progress. We live life day to day, and although Sam is making good progress, we are always acutely aware that we have no way of knowing how Sam’s condition will progress. For now Sam is generally happy, quick to laugh and a bundle of mischief.