Harry’s Story

Harry was born a healthy 9lb 12oz boy on 14/12/2000. Our happy and beautiful little man grew rapidly and developed normally. He suffered many ear infections as a toddler and thankfully had grommets inserted at 2 years, improving his hearing considerably allowing his speech to develop. He was ahead of average in his physical self, interaction and ability to draw etc. On his 3rd birthday our entire world was tipped upside down.

We organised a birthday party for him at a local children’s farm. All of the kiddies arrived and we were at the door greeting them. My dad suddenly rushed over to me. ’Harry has dropped to the ground and is having some sort of seizure’. My blood ran cold and the nightmare began. Harry started with tonic clonic seizures which increase in their frequency over the first few months. He was initially treated with epilim and ethosuximide with increasing doses. By March hundreds of myoclonic jerks set in alongside the increasingly numerous tonic clonics. At first, every morning as he woke, and then throughout the day. By May the myoclonic jerks became so severe that they would throw him to the ground. Harry suffered many lacerations to his chin, head and cheeks with the falls and lost his front teeth at age 3.

THE DIAGNOSIS AND SEARCHING FOR THE BEST TREATMENT

Harry started the journey that is a relatively rare syndrome called Myoclonic Astatic Epilepsy (MAE) or Doose syndrome (1 in 200 childhood epilepsies). An MRI scan at Luton and Dunstable hospital (L&D) came back clear showing no physical brain abnormality. Harry was diagnosed pretty rapidly with this difficult to treat idiopathic generalised epilepsy and we immediately searched for help and information any place we could. We couldn’t help but trawl through the scientific literature.

Sick with worry by now, but armed with information, we consulted our GP to discuss the best treatment for Harry. Never being one to hide one’s head in the sand, I had clutched in my hand, a pile of scientific research papers, including of a significant retrospective clinical study in Japan, which looked at MAE outcomes and prognosis and gave information on the most efficacious treatment. In this study the ‘ketogenic diet’ came out as number one best treatment for MAE. Furthermore, this information was supported by the real life experiences of many other Doose parents who we had contacted via an international web support group (http://health.groups.yahoo.com/group/doosesyndrome) who reiterated the information based on personal experiences with their children. “Try the ketogenic diet” it has great success rates even where drugs fail for the treatment of MAE/Doose. A little boy in Cambridge UK, same MAE diagnosis, same symptoms, (same neurologist), his daddy had tried the ketogenic diet which gained him seizure freedom. Another little girl with MAE, her mum told the same story. Again and again we were getting the same message… how could we ignore it??

We began a second box file was then started on the ketogenic diet as a treatment for epilepsy! We knew from looking at the Gt Ormond Street Hospital Web site that a programme of research was underway looking at the efficacy of 2 types of ketogenic diet in controlling difficult to treat epilepsies. Our GP drafted a letter in March 2004 to Dr Helen Cross who is leading the study (not 3 months into Harry’s illness), requesting that, based on this information, she take a look at Harry. The reply was positive ‘ Yes, I will see this man with the blessing of you local paediatric team’. We were so excited, Harry was going to be seen and may be treated with the recommended treatment for MAE. More experienced MAE parents said great, ‘you need hit this BEAST hard and fast. It metamorphoses, it thows lots of different seizures at you..it is difficult to kill. Get onto the diet quickly. Many of the recommended drugs make the epilepsy worse’.

LOSING OUR SON

However, to our dismay, we did not receive the referral blessing from our local paediatric team. It was insisted that we first try a cocktail of drugs. As these drug levels rose, so Harry rapidly declined.

Every drug trialled made Harry worse as predicted by some of the MAE parents, Epilim, Ethosuximide, Clobazam, Clonazepam…combinations of these at increasing levels.

Beginning to worry further about the treatment regimes, we took advice ourselves from MAE experts in Japan and Australia. These experts confirmed that benzodiazepines, in particular, can make MAE much worse and cause uncharacteristic tonic seizures and tonic status (as Harry would later experience many times)! Harry quickly became hooked on the benzodiazepines, which would treat his symptoms briefly and then the effect would wear off, necessitating a dose increase. The seizure numbers doubled and quadrupled and Harry’s epilepsy span out of control. Harry could not function, do puzzles, draw, laugh, sing nursery rhymes. He drooled, he walked into things and damaged himself to the point of bleeding but would not cry. One day we walked 200m to see our local ducks..he had 12 drop attacks in 10 minutes. He lost his teeth, lacerated his chin, blacked his eyes. Our beautiful smiley son looked like a heroin addict with black rings under his eyes and no feelings of his own.

We came to understand that this was a difficult to treat epilepsy characterised by several different types of seizure:

Harry has suffered several types of seizure in particular patterns.

1. tonic clonics the standard seizure most people believe to be a seizure (currently occurring only through the night) . Harry’s usually last 60-90 seconds and can be repeated. He has had hundreds of these.
2. drop attacks A sudden loss of muscle tone where Harry will drop to the ground/table. These are the most serious and damaging form of attack and could happen any time without warning
3. myoclonic jerks Symmetrical jerking of the arms, indicative of a deterioration. These really tire Harry..as worst he can have 1 per second..amounting to thousands since the nightmare began
4. Absence seizures Staring into space, regular bouts
5. Non convulsive status epilepticus This occurs if Harry has a build up of overnight seizures. He can’t walk, talk, eat solids or get to the loo. He would have many, many myoclonic jerks and drop attacks. This normally persists 5-8 days. There have been countless bouts of this.
6. Tonic seizures Again, during sleep. Harry becomes rigid and screams out.

We met with Harry’s local paed team who were not open to reading or discussing the research papers I had clutched in my hand and would not refer to the ketogenic diet programme until they had trialled several ‘front-line’ drugs. It WILL go down as one of the saddest days of our life. I cried all of the way home..frustrated, desperate at not being listened to. I was not frightened to question the medical professionals as I felt I had the most up to date information, but they would not consider the proven number one diet treatment for MAE ahead of highly addictive, sedative drugs on our three year old child!?

Our Hell was really to begin here and we regret to the bottom of our heart that we did not stand our ground from the outset. At one particular review meeting in June 2004 with 8 health professionals present, I tried to present the scientific literature gathered from papers and MAE experts and discuss the diet as a treatment Harry. I met a brick wall that said “with respect, I have been a neurologist for 20 years just go home and be a ‘good mother’ ‘’. I already knew that this man had failed to help another little boy with MAE who had since gained 100% seizure control on the classical ketogenic diet. The real battle was about to commence I quoted his other MAE patient’s success with the keto diet and the data that suggested that sedating a child who loses muscle tone in drop attacks can be made worse with benzodiazepines. A trainee neurologist in the room whispered “oh yes! benzodiazepine induced-drop attacks’. My heart was racing and head pounding. Harry was slipping into NCS on my knee. We wanted to scream and were given ‘ time out’ to decide whether to give MORE benzodiazepine to our sick son to relieve him temporarily (knowing that within 2 weeks he would worsen again and we would need to up the dose, and made to feel that we were negligent parents if we didn’t). So, it was agreed that they would refer Harry to GOSH for the ketogenic diet, and at the same time they upped the benzodiazepines.

Harry’s condition did worsen with benzodiazepines, as predicted. We did try to contact our neurologist again to seek help over his much worsening condition. Through an epilepsy nurse he sent us a message blaming the deterioration on ‘Harry’s epilepsy’. That was the end of our relationship with this neurologist.

In August 2004, Harry was enrolled onto the ketogenic diet programme at GOSH (the flags were put out at this point) As the months have gone on and with total support of GOSH we have weaned the benzodiazepines and fine tuned the diet to the extent that Harry’s seizures have decreased dramatically. He walks, dances talks, sings smiles, enjoys life, goes to pre-school. He has his own feelings back and is showing understanding and intuition. Harry is cheerful and outgoing and loves to be given jobs to do. He derives real pride from this. He loves other people and will hug his friends and family without reservation.

UPDATE

November 2006. Harry is now a ‘keto veteran’ having been on the ketogenic diet for 2 years and 3 months! He is also on a tiny dose of acetazolamide, the only ‘drug’ we have added to the mix which hasn’t caused terrible side effects but also we do not think is is actually benefitting him either. His seizures are reduced by a massive 80%. In a nutshell…the lights are now on and Harry is back with us. What more can you give to a family than that? With the help of Dr Cross at GOSH and Matthews Friends. The ketogenic diet gave us the ability to reduce Harry’s medications and effectively bring back our son to us and remain (more or less) sane as a family. Harry’s still has bad weeks but not AS bad. What Harry not longer experience are daytime tonic clonic seizures, tonic seizures, myoclonic jerks, partial seizures, confusion, hallucinations, aggression, a blank expression, inability to express his feelings (this returned on weaning lamictal) ..all of which were, we now realise, side effects of the drug regime he was following. We still hope for the elusive seizure freedom and our neurologist has recently added carnitine into the mix to improve Harry’s energy utilisation. We have seen huge improvements in his energy levels alertness and stamina. So 2 years on we are still finetuning the diet and Harry continues to IMPROVE.

So, if only we had tried the diet in the first place. My feelings: This amazing treatment, with few side effects needs to offered to MORE children and the EARLIER and the SOONER into the course of the epilepsy, the better. We owe it to our children that they are given a chance to try the diet under informed health professionals. Administered properly and finetuned carefully, this treatment has the power to change lives and in some cases give seizure freedom.

As an aside:

I was particularly encouraged by the data emerging in the scientific literature that showed that the ketones produced by the ketogenic diet are not only anti-convulsant but neuroprotective (protect the nerve cells in the brain from damage). The following info is from a well respected research establishment in the US.