NIAMH'S STORYas told by her mum Alison
We have been on such a roller coaster ride with our baby girl since she was born! I have copied parts of her story from the Old Forum and added the best bits since then to her story - best bits all thanks to the Ketogenic Diet which truly has been a miracle for her.
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.
Hospitals And Tests
Because of her vomiting she had poor weight gain and was frequently fed through an NG tube.
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 now were hitting her at 30-40 day on good days and 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 Topirimnate which made things worse.
Diagnosis
Developmentally, Niamh had not progressed since birth.
We had been told she had a visual impairment as she is unable to fix or focus 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 reached no developmental milestones.
Due to her inability to coordinate her sucking or swallowing she had also had 2 bouts of broncholitis and one of pneumonia in the space of 4 months. In May 05 Niamh's seizures were 100+ a day and she was in a bad way. In June we went into Great Ormond Street to have Telemetry on Niamh and also to start the Ketogenic Diet as a last resort. 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.
From Diagnosis To Now
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 medication she was on, that it cannot be helping her at all and that we should consider taking her off it. 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, rather than pumping her full of medication that was not improving things.
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. 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 coma for 2 weeks. The main reason for her deterioration 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.
However, she did come out of it and when she opened her eyes in mid July she was not fitting - nor has she had a seizure since! Drug free keto-baby and no seizures to speak of. Very gradually things started to come back to Niamh. She started wiggling her toes first then fingers. moving onto legs then hands. By the end of August she had learnt how to cry again and had given us a very long awaited smile! What a rollercoaster - Life with Niamh will always have its up's and downs. Although the diet has been incredible in controlling Niamh's seizures, it has had its fair share of problems for her.
By September she started vomiting uncontrollably - severe reflux (made worse we were told by the high fat content of the diet and the fact it sits in her stomach for longer) but anti-reflux medication, a small operation called a fundoplication to tie a knot in her oesophagus and a gastrostomy feeding tube (directly into her stomach) have improved things for her. Up's by far outweigh the down's though - She can now chew a dummy and smile and laugh in response to noises and touch.
She still has a problem with her vision, but she is holding her head up more every day and she can hold objects placed in her hand.
She now recognises her mum and I can calm her down if she is upset - it’s the best feeling in the world.
I know we are always going to have a very disabled child, but her quality of life has improved beyond belief thanks to the diet and all the friends and professionals that have helped us get where we are now.
Niamh Update 2007
Although she remains seizure free on the ketogenic diet she has made very little developmental progress. It made me think about her diagnosis and I really believe the seizures are just a symptom of something far more serious wrong with her head. We had sort of hoped that things for Niamh would improve after the seizures stopped but unfortunately my little angel battles with new problems every day.
We have spend considerable amount of time in and out of hospital with her trying to get to the bottom of why we cannot stop her vomitng and screaming.So far all we have worked out is that Niamh experiences anti-peristalsis, where her gut works in reverse and her stomach contracts upwards. Apparently this is caused because her brain cannot control her stomach in the normal way.
This has led to persistent vomiting, bouts of gastritis (stomach bleeding & irritation) and full body spasms though pain. She is on ranitidine, erythromycin, nalcrom and lansoprezole to help her stomach empty and to reduce her acidity and inflamation; she is on vallergan to stop her retching; she is on baclofen to stop her muscle spasms and she is on a morphine patch permanently to reduce her pain.
As a result of the vomiting we are also battling wth her weight. With tremendous difficulty we are trying to get her to 22lbs(10kg). She is now nearly 3years old we have just got her up to 19lbs although she can lose several lbs in a week of bad vomits. When she reaches 22lbs GOSH will insert a gastro-jejunal tube (instead of the 2 separate tubes - gastrostomy and naso-jejunal) which will be a godsend as her naso-jejunal tube has come out 4 x already this year and can only beinserted at GOSH by a consultant under guided flouroscopy - a complcated and painful procedure for her.
She has now been registed blind and also has scoleosis of her spine. Although she recognises some voices and has limited response to touch, she has not yet mastered holding her head nor objects but on a good day she will grip your finger in short bursts. She also has a termendous amount of mucous that is very difficult to shift. She has suction, nebulizers and hyocine patches to "dry her up" but she still sounds like darth vader.
Finally I do have some good news. I had a little boy in February and we called him Conor. As a result I am now on maternity leave and my e-mail address is alisonmaguire@gmail.com if anyone wants to contact me.