Harry's Journey



Niamh’s Story – In the beginning Niamh - DOB 24.06.04 Niamh was born 10 days late by ventouse delivery, after a straightforward pregnancy and a 47 hour labour. She scored 9 on the apgar scale when she was born but did not cry on arrival. Niamh was a very sleep baby; she slept through the night from a few days old and would have to be woken for her feeds. My midwife told me she was jut a “lazy baby. Niamh was 7 weeks old when we first noticed strange eye flickering and finger twitching. At first it happened every few days but when she was having these episodes on a daily basis I took her to our GP to check them out. Our GP saw her have one and suggested we go directly to East Surrey Hospital with her. This was the first of many stays in hospital we would have with Niamh - she was having seizures. She was transferred to another hospital and by this time she had started having a different type of seizure where she would screw up her face, smack her lips, salivate immensely and often vomit - this type were later identified as focal seizures. At this point she was averaging around 10 seizures a day. She had never been good at feeding from birth - always reluctant to suck and always vomiting. This was initially put down to reflux but was later assumed to be ictal vomiting (caused by her seizures). Because of her vomiting she had poor weight gain and was frequently fed through an NG tube although could suck a bottle on good days.

Tests and Medications

Initial EEG's were normal, but as time went on they became progressively more chaotic and disorganised and described as highly abnormal although not displaying typical hysparythmia. She appeared to have both focal and generalized seizures intermittently. MRI's, brain ultrasounds, biopsies and more metabolic tests than I can remember, all came back normal.

Epilim, Pyridoxine, Phenetoin, Phenybarbitone, and Carbamazepine didn't make a dent in her seizures which by 6 months old were hitting 30-40 day on good days and well over 100 on bad days. Vigabatrin and Nitrazapam initially appeared to be the miracle we had been waiting for with no seizures for over a week in January 05, but our hopes were short-lived and Niamh began to fit again. Prednisilone (steroid) was added with no effect and then Topirimate which made things worse.

Her rescue drugs were Diazepam, Lorazepam and Paraldehyde but they started getting less and less effective the more we used them. When we were using them on a daily basis and they were not even helping we were lost as to what we could do. By the time Niamh hit 11 months her seizures were almost continuous. They had taken a massive toll on her developmental progress and she could not sit, she had stopped fixing or focussing on objects/faces and she would also not respond to voices. She had poor head control and most of the movements she made were uncontrolled (and most likely seizure related). She had lost the very few developmental milestones she had reached the most devastating loss was her ability to smile.  She had also started to loose her skills coordinating her sucking and swallowing and as a result she had started aspirating her milk. She had had 2 bouts of broncholitis and one of pneumonia in the space of 4 months.

The Diagnosis 1 year old

 We had tried 12 anticonvulsants over the last year without success and we felt we were loosing our baby. Niamh was taken into Great Ormond Street Hospital to have Telemetry done (to help diagnose her) and also 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. The diagnosis came as no surprise to us - we knew she was very ill. The consultant at the hospital who gave us Niamh's diagnosis told us quite frankly that if Niamh was still having the level of seizures she was, on all the anticonvulsants she was on, that they could not be helping her and that we should consider taking her off them all. He was a breath of fresh air as we had always worried about the drug combinations she was on. He felt that in view of Niamh's diagnosis we should be thinking about trying to improve our baby's quality of life while she was with us, and the drugs were not doing this for her.

It was not a hard decision at all to make - in our view she could not get any worse that she was already, so we agreed to remove all anticonvulsants and start the Ketogenic Diet.


Weaning her anti-convulsants and starting the Ketogenic Diet

The next 6 weeks of weaning off the medication was hell. I wondered many a time if I had done the right thing as Niamh went into status (state of continual seizures) for 4 weeks and into a persistitative vegetative state for 2 weeks. The main reason for her deterioration we understand was the withdrawal of the Nitrazepam. Our 12 month old baby was going through the most horrific 'cold turkey' you wouldn't wish on your worst enemy. So bad in fact that the last 2 weeks her body just decided to shut down.

Niamh had been on Nitrazepam for 8 months (since she was 4 months old) and by the time we started weaning her, she was on 4mg twice a day. We had heard weaning would be tough - we just hadn't appreciated how difficult it would be. I cant tell you the number of times I sat beside her hooked up to her saturation monitor and oxygen just shaking like a little jelly day and night. I will never forget those times. To make things worse, Niamh's rescue drugs of choice were Diazepam and Lorazepam - both of which are from the same family and therefore had stopped being effective. 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.

The difference I think with Niamh is that she was so incredibly ill with the frequency of her seizures prior to the withdrawal, we really held firm the thought that we were doing the right thing regardless of the outcome. I suspect that this is not the case for all parents withdrawing their kids from these drugs, so I'm not suggesting our action would be right for every family. The week we reduced the dose to zero, Niamh went into a comatosed state (although she was still fitting). But then out of the blue, 2 weeks after the dose had been cut to zero (and 6 weeks after commencing the ketogenic diet), she opened her eyes and her fits had gone.

Light at the end of the tunnel

Getting her off the Nitrazepam was the best thing we have ever done , I personally believe (though there is apparently no medical foundation for this) that the anticonvulsants were making her seizures worse (or at least different) even before the withdrawal. Very gradually some things have started to come back to Niamh. At first it was just wiggling her toes, then fingers, moving onto legs then hands. After 2 months she had learnt how to cry again and had given us a very long awaited smile!

Living with MPEI

We are thrilled we have had such a success with the ketogenic diet, however the seizures (or the drug withdrawal, we do not know) have unfortunately left Niamh with severe brain damage.

Although she can smile at noises and touch, she does not use her vision anymore, she cannot hold her head or sit, she is fed via tubes into her stomach and another into her small intestine (jejunum) and she is fully dependent on us for all her care needs and always will be. Because her brain is damaged, the impact on the rest of her body is immense and she battles on a weekly basis with health issues including; bouts of vomiting uncontrollably - severe reflux (made worse we were told, by the high fat content of the ketogenic diet and the fact it sits in her stomach for longer).

She remains 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, but bless her, she manages to baffle her doctors by just being sick through it! She has a gastrostomy and a jejunostomy for her day and night feeds respectively, but she still has bad weeks where her gut and bowel just work in reverse (anti-peristalsis) and she will only tolerate water. She has severe scoliosis (curving) of her spine and has to wear a back brace, and she has developed a movement disorder, likened to Parkinsons, that means she trembles constantly and has bigger more severe dystonic spasms that upset her a lot, and mean she cant catch her breath and so cause her to go blue.

On a more positive note - She can now chew a dummy and does smile and laugh in response to noises and touch. She loves being tickled. She still has a problem with her vision, but on good days she will hold her head up and sometimes she will gently grip objects placed in her hand. She now recognises her mum and I can calm her down if she is upset (sometimes) - its the best feeling in the world.
Niamh is now off the  ketogenic diet as she became very underweight, but she still remains seizure free. I know we are always going to have a very disabled child, and we know she will battle with her health for the rest of her life but her quality of life has improved beyond belief thanks to the diet and all the MPEI friends and professionals that have helped us get where we are now.

In 2008, 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 her underlying problem was probably metabolic and likely to be of mitochondrial origin. They said that the images they had seen indicated that her condition was fairly far advanced, and that it 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 with her. We took her to Lanzarote for our summer holiday (oxygen, suction machine, saturation monitor, feeding pump, drugs and all) which she loved and when we got back we threw her a big party for her 4th birthday.she went into permanent dystonic spasm and her rescue drugs would not work. She ended up being taken into Great Ormond Street Hospital where she was kept heavily sedated in an attempt to stabilise her. After this episode, she never fully recovered.

Although we were discharged from hospital with her (now oxygen dependent) and heavily sedated, over the next few months she had very little time awake and not in spasm. She needed sedating 2 or 3 times a day and night but she was able to enjoy a few hours a day of quality time with us, her nurses and her friends before having to be put back under. Christmas 08 she was on good form during her waking hours, but over New Year she caught a bug that was going round and it developed very quickly into pneumonia. Niamh struggled with this pneumonia and remained unconscious for nearly 2 weeks. We were warned that this may be the end for her but as usual Niamh proved them wrong and by mid January 09 she began to waken and had dropped from needing 12litres per hour of oxygen to only 4litres per hour. We though she had done it again - defied medical science and pulled through the un-pull-through able.

However during her pneumonia her stomach and gut had failed. Tragically she was not able to kick these back in and she could not tolerate even the tiniest feed, diluted milk, Dioralyte and then not even water. During this period her seizures came back with a vengeance and she required intra-muscular phenobarb-morphine-midazolam via a syringe driver to even keep her comfortable. All her other medications were stopped as they could not be given by any other route other than into her stomach which was bleeding heavily now.
Over the next few weeks Niamh's breathing became erratic and irregular, changing from very slow (8 breaths per minute) to  rapid (40+ breaths per minute). She lost control of her temperature and would spike to 40.5'C then very quickly her arms and  legs would become freezing. Her heart rate would also range over the day from very fast (over 200bpm) to below 50bpm.We realised that finally her brain stem - central to her vital functions - was just not working. On the last few days she was with us, her heart rate dropped as low as 30bmp and no amount of oxygen could keep saturation levels above 60. She held her breath frequently and her respiration rate was very slow.

Niamh passed away on 9th February 2009 in the arms of her Mummy, while her Daddy kissed her head