Niamh’s Story
In the Beginning
Niamh was born by ventouse delivery, after a straightforward pregnancy and a 47 hour labour. She got apgar’s scores of 9 but didn’t cry on arrival.
She was only 7 weeks old when we first noticed strange eye flickering and finger twitching.
Our GP suggested we take her straight to hospital as she thought she was having seizures.
Tests and Medications
Initial EEG’s confirmed she was having seizures, and we were told Niamh had epilepsy. I don’t think at that time we really knew what had hit us – at the time that seemed like the end of the world.
Further MRI’s, brain ultrasounds, biopsies, bloods (and more metabolic tests than I can remember), all came back normal so we were told we just had to wait and see.
Over the next 8 months Niamh’s condition deteriorated. As time went on, EEG results became progressively more chaotic and described as “highly abnormal although not displaying typical hysparythmia”.
Her seizures came in all shapes and sizes, and changed from week to week. She had absences, eye flickering & eye deviations, lip smacking & salivating, retching & vomiting, breath holding, leg and arm lifting and stiffness through to full body shakes.
We tried a number of anti-convulsant drugs including Epilim, Pyridoxine, Phenetoin, Phenobarbitone, Carbamazepine; Vigabatrin, Nitrazapam, Prednisilone, Clonazepam, and Topirimate. These drugs were changed and increased in combinations of 4 or 5 at a time and any benefits seen were short-lived.
Her rescue drugs were Diazepam, Lorazepam, Midazolam and Paraldehyde but they started getting less and less effective the more we used them. By the time we were using them on a daily basis they had stopped working completely.
By the time Niamh hit 11 months her seizures were almost continuous and had taken a massive toll on her development. She couldn’t sit, she’d stopped focusing on objects and would not respond to voices. She had poor head control and most of her movements were uncontrolled (& most likely seizure related).
She had lost her ability to suck and swallow and had 2 bouts of broncholitis and 1 of pneumonia in the space of 4 months.
It was at this point that I heard about Matthew’s Friends and I gave Emma a call. I explained out situation and told her we were going to try the ketogenic diet ourselves as a last resort. We had tried so many anticonvulsants over the last year without success and we felt we were loosing our baby.
Emma worked miracles and somehow convinced GOSH to take us on, despite Niamh being only 11 months.
The Diagnosis – 1 year old
Niamh was taken into Great Ormond Street Hospital to have Telemetry done (to help diagnose her) and to start the Classical Ketogenic Diet.
The Telemetry revealed she had a condition called “Migrating Partial Epilepsy of Infancy” A devastating neurological disorder for which the prognosis is extremely poor and for which there is no cure.
With medical support it was agreed that we stop all her drugs and focus on the ketogenic diet alone, in an attempt to make Niamh comfortable to try and improve her quality of life while she was with us.
What happened 6 weeks later was totally unexpected.
Weaning her meds and starting the Ketogenic Diet.
Over the next 6 weeks we weaned all her drugs and Niamh went into status (state of continual seizures) for 4 weeks and into a persistitative vegetative state for 2 weeks.
We had heard weaning would be tough – we just hadn’t appreciated how difficult it would be. We just sat beside her – hooked up to monitors and oxygen just watching her shake like a little jelly day and night.
During this time I spoke in great length to a member of Matthews friends called Susan who is a wealth of knowledge in the area of benzo withdrawals. She said that she had encountered many people who had taken several attempts to withdrawal before being successful and many people who had never managed it (due to the intolerable side effects and withdrawal seizures).
To make things worse, Niamh’s rescue drugs were no longer effective as they were from the same family as the drugs we were weaning.
We had moved on to Paraldehyde as a rescue drug, but that was no match for these withdrawal seizures and in the end, we just had to be brave and let her body deal with the withdrawal itself.
However, during that time something amazing happened. The last two weeks of the wean, her body had appeared to shut down (in so much as she was unconscious but was no longer shaking) then out of the blue one day in early June, she just opened her eyes – she had stopped fitting.
The ketogenic diet had kicked in and her seizures had completely stopped!
Over the next few months, some things started to come back to Niamh. At first it was just wiggling her toes, then fingers. After 2 months she had learnt how to cry again and had given us a very long awaited smile!
Living with MPEI
Niamh’s underlying condition has left her with severe brain damage. Although she can smile at noises and touch, she does not use her vision, she cannot hold her head or sit, she is fed via tubes into her stomach and small intestine (jejunum). She is fully dependent on us for all her care needs and always will be
She has weeks where her gut and bowel just work in reverse (anti-peristalsis) and she will only tolerate water. She is on lots of anti-reflux medication, antispasmodics, and anti-inflammatories to stop her stomach bleeding, and to reduce her sickness. She has also had an operation called a fundoplication to tie a knot in the top of her stomach to stop her being sick.
She has severe scoliosis (curving) of her spine and has to wear a back brace, and she has developed a movement disorder, likened to Parkinson’s, that means she trembles constantly and has bigger more severe dystonic spasms that upset her a lot, and mean she can’t catch her breath and so cause her to go blue.
On a more positive note – She can chew a dummy and does smile and laugh in response to noises and touch. She especially loves rough and tumble play, being jiggled about and will laugh and giggle infectiously when she is tickled!
Living on the Ketogenic Diet
Because of Niamh’s feeding problems, she was not able to eat solids so was given the ketogenic diet in the form of a ‘formula feed’ called Ketocal which was put into her tubes (Naso-gastric, then gastrostomy then jejunostomy as time went on).
I have to say that I was pleasantly surprised at how easy this was, considering all the things I had read about the diet before we started it. It was just like making up her baby formula milk.
Over the 2 ½ years Niamh was on the diet, we mainly used Ketocal liquid formula but during times when her stomach was particularly bad we also tried a modular version of the Classical diet (where you add all the components separately). This was slightly more tricky, as Niamh was fed so slowly that it all used to separate out before it got into her, so on a couple of occasions she had her full daily dose of carbohydrate/protein in one go, followed by her full dose of fat! – for those of you that understand how the diet works, this was not good and left us with a very poorly girl.
Fortunately, there was no lasting damage done and as with everything, you quickly get used to the new regime and work out for yourselves ways to overcome the problems – it soon becomes second nature.
Despite the fact Niamh remained seizure free from 6 weeks after commencing the diet (with no extra anti-convulsants on board) we had a tough decision to make when she reached 3 ½.
Niamh was just not able to gain weight. The high fat content of the diet had proved just too much for her already very poorly stomach to cope with and she had reached the point that she was so underweight she was at risk from organ failure.
We made the very difficult decision to stop the diet in early 08 and accept the possibility that her seizures may return.
We had a further 6 months off the diet with no seizures followed by six months of very mild seizures – no where near on the scale of pre-diet.
Secondary Diagnosis
Last year a routine MRI revealed a progression of damage to part of Niamh’s brain called the basal ganglia and brain stem. Her doctors explained that this indicated that she had an unknown underlying metabolic (mitochondrial) disorder and her condition was degenerative.
We were given an approximate timescale of a further 1-2 years so we decided to make the most of our time left by taking her on holidays and throwing a big party for her 4th birthday.
Passing
We all enjoyed Christmas 08 and she even made it to her little brother’s 2nd birthday party in early Feb 09.
Niamh passed away on 9th February 2009 in the arms of her Mummy and Daddy. We are all going to miss her beyond belief.
I want to say a big thank you to all at Matthews Friend’s for the support and advice they have offered us over the last few years and also to Emma for getting us on the diet when Niamh was so young and therefore giving us an extra 3 ½ years of quality time with our little girl.
Niamh has her own special website – you can read more about her story HERE