Benign Familial Infantile Seizures

[Lallas' Mum]

Just wondering if anyone else out there have children who have been diagnosed with Benign Familial Infantile Seizures? They are seizures that are heriditary and occur in infancy.

My son was diagnosed when he was six months old after having two major seizures where he actually stopped breathing for a short time. His first major seizure was atonic (he went completely limp and started turning blue) and his second major seizure was tonic clonic (he had convulsions). After his first major seizure we realised that he had had at least two minor seizures prior where he had simply gone limp. He was like a ragdoll to pick up yet he was still breathing ok. It was just like he had fallen asleep with his eyes open.

He was placed on medication (phenobarbitone) which he stayed on until after his first birthday. He has been seizure free since July 04 and off medication for 7 months. It is believe he has outgrown his seizures. All his EEGs and cat scans showed no abnormalities which is characteristic of Benign Familial Infantile Seizures. It makes the condition hard to diagnose (unless there is strong family history) and it also makes it hard to say if the child is "over them".

My concern now is for my child due in May. I have read that the seizures usually don't present until they are four months old but I really don't know anyone else with personal experience with seizures, let alone BFI seizures.

Can anyone else lend their experiences on seizures, especially BFI seizures?

Tracey (paranoid expectant Mum)
:) Mum to Alec (Lalla) 17 months and bub due May 2nd

[MamaRabbit]

Hi Tracey, firstly apologies if somehow this email does not display properly I have not used this forum site before. My little boy has been diagnosed with something called Bilateral Periventricular Nodular Heterotopia...what does it mean? Basically he is prone to seizures, that is all they really know, they say it is "just one of those unexplained things" and don't believe it is genetic.

Like your little boy, he has had two major episodes, first one at 6 weeks and the second at around 8.5 weeks (after his 2 month immunisation) it seems to have been triggered by his medicine levels being low. He started off doing the limp, staring thing, but he also had some clonic and tonic clonic seizures - the second time he would have had around 30 seizures in a 24 hour period before they were able to control them - for some reason they dosed him up on everything other than Phenobarbitone which seems to be the only one he responds to at the moment. It was a terribly frightening time and just awful to watch, we stayed in hospital for around 5 days each time when they performed blood tests, EEG, MRI Scans - the works. So today I have a 3.5 month old very happy little boy, who is on Phenobarbitone twice a day.

Most of the time I just get on with it and try not to think about when he may have another episode, they will keep him on medication for 6 months (another 2.5 months) unless he has another seizure before then. The doctors seem to think that the very young babies do grow out of it, as the medicine must allow their brains to develop and isolate the cause of the seizures so they are no longer active (or easily triggered off).

COngratulations on your pregnancy although I can relate to your fear. I too am concerned about having another child - although the likelihood of experiencing the same problems is slim as it is not genetic. Do you have a strong family history of this condition?? The only support I can offer (and it is a conclusion I have come to myself) is that things could be worse! Seizures can be controlled so they grow up to lead relatively normal lives. In fact I read 1 in 200 children are born with epilepsy in Australia (1 in 130 in the UK) - different condition I know but still seizure related - just think about how many people you have seen have seizures in your lifetime. I know I hadn't seen one until Charlie's first one....I had heard about people who had them....but 1 in 200 is alot, we have probably met loads of people who suffer from seizures but who don't advertise it. In fact my husband works with an ex-soccer player.....he suffered seizures all his life yet he still went on to captain the Socceroo's! So I have no doubt that our children will lead wonderfully rich lives full of laughter and love, after all it's what we make of it.

All the best for your birth (it must be anyday now), and drop me a line anytime if you want a chat.

Cheers,
Elle (Elena) Charlie's Mum.

[Lallas' Mum]

Hi Elle,

I was beginning to think that I was the only one who has had the obsolute life frightened out of them but seeing your own child turn limp and blue.

You son's condition sounds similar to what my husband experienced as a baby. He had his first seizure after an immunisation, though the doctors didn't believe it was related. My husband is the only one in his family that suffered siezures and his parents can't think of anyone else in the extended family who had seizures. Yet they say it is genetic. I guess they have no other way of explaining why it happened. All Alec's tests came back with normal results. Which is characteristic of BFI seizures. The only other test they were going to do was a sleep deprieved EEG as all his seizures occurred when he was tired. But the phenobarbitone (once they increase the dosage) kept the seizures at bay so they didn't do any more tests.

The good news is that my son has been drug-free since two weeks before Christmas 2004 and seizure free since July 04. So there is hope. But like you said there are many people out there with epilepsy and you would never know as the medication works.

I wish you and your family (especially your son) all the best. Let me know how he goes when they start to wean him off phenobarbitone. Alec was weaned over a six week period which apparantly is normal procedure for everyone. Brace yourself though - all the panic attacks started again for me around that time and I watched him like a hawk. It is hard to take things like this in your stride.

One thing I found after Alec came off his medication was that he seemed to be more placid. He was always wiggling and at times seemd agitated. But as his medication lowered he became more able to sit in one spot for more than a microsecond and I could actually start to do things at a slower pace with him like reading books. Don't get me wrong he is still a very energentic, busy little boy.

Good luck to you all in 2 1/2 months time.

Tracey
:) Mum to Alec (Lalla) 18 months and bub due by C/Section May 3rd!!!!:eek:

[MamaRabbit]

Hi Tracey,

Genes are funny, I suppose there doesn't necessarily need to be a long history to make it hereditary. Is your husband seizure free (and medication free) now? We found a few answers in Charlie's scans hopefully if you ever manage to get the sleep deprived EEG it may show something - or perhaps you may never need to!...It doesn't explain much for us but it's some kind of answer when otherwise there is none. Just make sure you don't go out researching too much on the internet as alot of it isn't applicable to everyone with the condition and it scares you unecessarily. I found one that said BPNH is very rare in boys, they don't generally survive in the womb and if they do they are retarded. When I told the specialist she was horrified. Charlie couldn't be more happy and normal if he tried. He is developing just the same (if not faster) for his age. But I make sure I keep his little mind stimulated just in case.

I'm pleased that Alec has been seizure free for so long, and even better that he is medication free. Charlie just had a blood test to check his medication levels as he has his 4 month shots coming up so we will be watching him closely to see if the shots bring some seizures on...something about the body being under stress I suppose. I do have a bit of anxiety about it, but having been to hospital twice already I am much more calm knowing that he is a tough little bugger.

Fingers crossed for your new little one, I'm sure everything will work out great. Heaven forbid the little one be prone to seizures, but if they are at least you are better equipped to handle it knowing that the medicines do work.

Now that you mention it I have noticed how fidgetty Charlie is...he's is pretty happy and well behaved but can't sit still for a moment I was concerned that we would then have to deal with some kind of Attention Deficit Disorder as a side effect to the Phenobarbitone, but it is comforting to know that things may improve when he comes off it. Just like you, I'm expecting to have panic attacks when they wean him off it, but they are not increasing the dose with his weight in the hopes that he won't have any seizures and will just wean himself off it come 6 months. This is a good way to do it, but it also leaves everyday with a bit of a question mark (?).

Anyway, take care of yourself (and your family) and rest up before 3 May. I hope you get a lot of joy from both Alec and the new bub.

P.S) I read Charlie's star sign the day he was diagnosed and it said something about having an extra ingredient in his cake, but not to worry as it made it just as tasty and unique. Same goes for your little Alec....it's all about being special.

Talk to you soon and do keep us posted on the health of everyone from time to time.

Cheers,
Elle & Charlie

[Lallas' Mum]

Hi again Elle,

My husband only stayed on medication (phenobarbitone) until he was two. While he was medicated and even after he came off his meds he had no more seizures. Apparantly most children grow out of seizures by the time they are two years of age. There was one big difference in my husband's seizures and my son's and that was that my husband showed abnormalities on his EEG where as my son didn't. It was difficult getting back test results. You hoped they all came back normal but then you also kind of hoped that they showed something just so you knew for sure what was going on.

It is good to hear that Charlie is doing well developmentally. Alec was always a couple of months ahead with reaching key milestones as well. I guess the "extra ingredients in their cakes" do make them even more special. By the way that is a fantastic way of viewing things.

Is Charlie on tablets or the dreaded elixir? Alec started on the elixir but when they increased his dosage we changed to tablets. Thank god. Alec would vomit if he had the full dose of elixir in one hit. That stuff is 90% ethanol!!!
My husband had to have tablets disolved in alcohol (which was done by his pharmisist). It is terrible to have to give your children alcohol mixed with medicine.

Anyhow enough babbling - I can't help it as you're the first person (other than my MIL) that can relate to this.

Take care and I'll let you know how things go on Tuesday

Tracey
:) Mum to Alec (my special little cupcake!!) and bub due May 3rd

[VickiA]

Hi, my name is Vicki and I am the grandmother of a boy 22months old who recently had a seizure which the doctors have called a mystery.
He got up early one morning and cried whilst holding his head then collapsed unconcious on the floor and was taken to hospital. The dr's though it may have been a tumour or a hemorrage, the Dr's did a CT scan, MRI and an EEG and multiple pathology tests and all where normal. He seemed perfectly ok the next morning but we have noticed that he went off his food, was more agitated and showed more aggression towards his younger twin brother and sister. Can anyone offer any suggestions, I am thankful he appears ok but when the Dr's can't tell you what happened and they can't tell you that it will or won't happen again, life is a bit like an egg shell

[MamaRabbit]

Hi Vicki, I'm sorry to read your email. It is so heartbreaking when these little treasures go through such heavy experiences so young. When you say your grandson collapsed - did he actually have a seizure or did he fall unconscious? I'm no doctor so I can't offer a diagnosis as such but given the Doctor thought it could be a tumour or heamorrage I would seek a second opinion now that he is showing other signs of generally not being himself. When my little boy first had his seizures the doctors tried to tell me it was "reflux"....thankfully they saw a seizure first hand before they sent me home so they investigated further but I knew all along that he wasn't himself. We were lucky enough to be seen by the Head of Neurology at the Childrens Hospital in Sydney so they were very experienced and even sent our scans to a specialist in Melbourne who had done case studies on children with similar seizures in America for many years and they see us every couple of months to check progress even if all has been going well. Did you go to a Childrens Hospital or just your local one? There is no harm in getting a referral and meeting with a neurologist at another hospital to ease your mind a little (preferably one that specialises in children). Not all doctors are equipped for these type of episodes (particularly in babies).

It will feel like you are walking on eggshells for awhile but in time you learn to watch them without driving yourself mad with worry. We have only been seizure free for 3 months but my little boy is such a picture of health, always smiling. Realistically he could have another turn at any time but you learn to watch for the symptoms. My son gets very irritable before a seizure, but I can spot it as it is different to just being overtired or hungry. You and your family know your grandson the best, if he doesn't seem himself perservere and get him checked out.

I wish you all the best and please feel free to drop me a line anytime you feel like a chat - I found great support on here with Tracey as none of my friends or family could really understand the worry involved and the experience of seeing our little one in hospital and on medication.

Cheers,
Elle

[MamaRabbit]

P.S) Vicki I forget to mention....a video recording can work well. If you find your grandson really not being himself (or worse having an episode of some sort) try and get someone to film his behavior or the seizure. I was fortunate that my son had his turn in front of the doctors but before they saw it they asked if I had video footage of it as this can fast track their research rather than waiting for them to see it first hand. Doctors tend to start with the simpler diagnosis until they have reason to explore the more tricky ones. It can be expensive to perform certain tests etc....but if they have reason to they won't hesitate in exploring all avenues...

[Lallas' Mum]

Hi Vicki,

I don't envy your position at all. I remember what it is like as if it were yesterday. After my Alec's first seizure the Paeds at the local hospital were stumped. He had just gone limp and stopped breathing out of the blue. He didn't even convulse he just stopped breathing and went completely limp. The paeds called it an "Atonic" seizure meaning "no muscle tone". We were sent to the neurological dept. of the Royal Brisbane Children's Hospital for an EEG which showed no abnormalities. Alec went on to regular medication as my husband had had seizures as a child so they believed it may have been a heriditary disorder. Alec then suffered a second seizure in which he went limp, stopped breathing and then this time convulsed. He then went on a higher dosage and had to have a cat scan. Once again no abnormalities shown. It was eventually via a video conference that a Brisbane neurologist diagnose Alec with Benign familial infantile seizures. One reason the came to this conclusion was that when tested most patients had "normal" results. The other reason was because his father had suffered seizures when he was small and had grown out of them.

I pray that your Grandson never suffers a seizure again, but if he does I pray that he too will "outgrow" them as my son has.

It is hard to offer any words to console you. I've been there and not much helps. But please know that you are not alone in your situation and if you ever need to chat feel free to contact me.

I found it helpful to use google to search key words such as Atonic seizures (which are also known as "drop" seizures) and childhood seizures. It helped me to better understand what was happening. It was also helpful to look at epilepsy sites. Epilepsy is actually the term used when someone suffers more than one seizure and is highly misunderstood. Under the searches they list symptoms that may help in diagnosing what is happening with your grandson.

I can't offer any other advice than that. But I can offer my ear and time if you need it.

Tracey
Mum to Alec and Zak

[Michelle j c]

:confused: Hello everybody. This is my first time using this kind of site and I hope my information gets to you all. I also have a 5 month old son that has been diagnosed with periventricular nodular heterotopia. I have been reading the comments on seizures and I am still really confused. My son had a little head shake that was picked up by the child health nurse. This turned out to apparently be seizures. he has been placed on phenobarb. Since he commenced on the medication he has had no episode that I think are seizures and I am concerned that they were never seizures at all. In the past 4 months we have increased his medication once and this was as a precautionary measure rather then a requirement. He had an EEG which demonstrated mild abnormal behaviour. I don't know what class these seizures would come under and feel very much in the dark. :confused:

[MamaRabbit]

Hi Michelle, just read this message....further to my other email to you my son's first episode was just staring with very mild stiffening if he were big enough to stand he probably wouldn't have fallen over as they were so mild. The second time he held his breath and had more stiffening and turned his head to the one side. There are a number of different varieties of seizures. We have an adult epileptic friend who used to just lick his lips and tune out a little bit, like he wasn't listening to you when you spoke, but that in fact was a seizure as he wouldn't know how long he had tuned out for (they weren't usually very long), on the flipside some people suffer the full blown seizures where they twitch and shake and often vomit on waking.

I have been told that the brain is ever changing, particularly in these little ones so the abnormal behaviour seen on the EEG may not always be present. We had some activity on our second test but not the first, so we are repeating it in a few months just as a matter of procedure. Did you have an MRI Scan as well? That is how we got our diagnosis of PNH, I questioned Charlie's seizures in the begining (one doctor even told me his stiffening was due to reflux!) but having had the MRI it is a little difficult to argue with the scan results.

Feel free to email me privately as before, I have picked up alot of information from the hospital which I am happy to share.

Take care of yourselves,
Elle & Charlie

[Lallas' Mum]

Hi Michelle,

How scared, confused and frightened you must be feeling. It is pretty frightening when your child suffers any seizure mild or otherwise. Then the Drs send you for all sorts of tests and tell you your darling child - who is for the most part is a beaming picture of health - has some wierd sounding unheard of disorder!?!

What are the Drs going to do long term? Do they think he will grow out of it? Have they mentioned how is development may be affected?

I'd love to chat if you want. My second son is now two months and he is at risk of suffering the same seizures as my first son. The type of seizures my first son have usually present around 4-6 months of age so I am getting a bit edgey. Luckily the type of seizure is benign which means they will have no longterm affect on his development.

Take care and feel free to PM or email me if you want to chat.

[will&samsmum]

I am very excited to have found this site. My name is Emma and I have a 13 month old son who has Periventricular Nodular Heterotopia. He was diagnosed with this condition at 10 weeks of age. We were at the shopping centre having coffee when William had a seizure in his pram. We were rushed to hospital and after two more seizures and a week of EEG's, 2 x MRI's and numerous medical tests he was diagnosed with PNH. He was put on Phenobarbitone tablets (because as Tracey said - the 'dreaded elixir' made him vomit). The Phenobarbitone held his seizures for about 2 months and then after a few large seizures and lengthy hospital stays his Phenobarbitone was increased and Dilantin added. This combination of drugs controlled Williams seizures for another two months and then William went into one huge state of seizures for about a month. We stayed in hospital for nearly 7 weeks. A new drug called Topirimate was added as well as clonazapam. Williams seizures were controlled for 3 1/2 months and then a few broke through. We have had a few more hospital stays since then but no longer than a week. On the 31st May William had another huge seizure and his Dilantin was increased as the level was only 3 which is extremely low. His Phenobarb level is good though. William is developmentally 3 to 4 months behind. His neck is a little floppy from all the drugs he is on but it is getting stronger every day. We have Physio and Occupational Thearapy every fortnight and do heaps of exercise at home. We saw his pediatrician last week and she is very happy with his progress. We have the most wonderful nuerologist - Dr Barry Appleton. It has been a long and lonely road and it is good to finally have contact with people in the same situation. When William has seizures we use intra nasal Midazolam which usually works. Peraldahide?? up the bottom also works very well on William. I would love to hear from all of you here or at my email address lindberg@aapt.net.au . I have already made contact with Michelle and have met her beautiful son Kaden. I also am scared and worried about having more children. My partner and I planned to have a big family and this happened with our first child! But the Geneticist says it is not genetic and there is no genetic reason that it should happen again. We are seeing her again in September. My life is just one big rollercoaster of Doctors appointments! Anyway, I can't wait to chat to you all.
;) Emma

[jaysmommy]

Hi All,

Sorry to hear about your children also suffering various conditions, I just wanted to tell you all to please read my post on Reflex Anoxic Seizures or look up the website for Stars, the org for that condition. my son has just been diagnosed with it after LUCKILY having his second seizure with lots of doctors present, the reason i am telling you this is that RAS can affect 8 out of 1000 children, it commonly starts in babyhood and is nearly always misdiagnosed as epilepsy or other seizure type conditions due to the simlarities in symptoms (though the cause is very different), a lot of children even end up being medicated for epilepsy, most GP's have not heard of this condition so while i'm not suggested all your children have this condition it's certainly worth reading up to see if your child ticks any of the boxes and maybe checking that your doctor had investigated the possibility of it being this. The more i read, the more i hear of lots of misdiagnosis of these type of conditions.

Good luck to all :fingerscrossed: