New here, epilepsy twins IDIC15 West

[vekasuiv]

Hello,
I am desperate mother of two girls 7.5 yrs old post-West syndrome, myoclonic seizures (plus other from time to time.), iDIC15 chromosomopathy. Please visit my profile for details because it is long story.
I need help from you because I can not do this alone anymore.
1. seizures are triggered by infections (not fever)
2. they have sIgA deficiency,repetitive gastrointestilal infections and constipation (bacteria, yeast) which caused SERIOUS autoimmune response
3. seizures are triggered by low glucose, maltodextrin, fasting (not eating longer than 3-4 hrs)
4. possible problems with medium-chain fatty acid metabolism (OAT in urine)
5. seizures are triggered by exposure to sun for 5 min,
6. seizures are triggered by thirst (not really dehydration)
7. some seizures are somehow related to defecation, they prevent defecation, and appear in the same time.

Regressions do not correspond well to seizures. They follow some infections.
possible mercurychrome poisoning
There is much more. Any advice? I must keep them infection-free (how to do this????) I must treat autoimmune issues (how?) I must solve constipation (gf/cf/sf, diet, rotation diet, nystatin didn't help) I must feed them well (with???)
I must treat seizures... I think best therapy was Synachten, it is dangerous, drs won't do this. How to approach this? I think I am dealing with autoimmunity.
Thanks
Suzana

 

[Dutch mom]

Hi Suzana,

It must be very hard to deal with having not one but two daughters with such a rare type of West syndrome. I wish I knew more about it but I don't. But I'll do my best to give you some advices/thoughts which might be useful.

I am mom to (healthy) twins myself (boy and girl, age 12) and an eldest 16 year old son with Lennox Gastaut syndrome who is using the classical ketogenic diet for epilepsy for over 11 years now.

He has brain damage and is severely handicapped as a result of non ketonic hypoglycemia shortly after birth. fortunately he doesn't have hypoglycemia anymore.

When he was a baby and toddler we had to be sure he was fed enough every few hours to avoid unexplained low blood sugar. That was difficult because of chronic reflux. We used a blood sugar meter and a small heel prick(later on finger prick) to check his glucose levels regularly and when he was ill or had diarrhea or had vomited.

Now we still have to prevent him vomiting as much as we can because of the ketogenic diet, therefore he uses ranitidine in a high dose to treat the reflux.

Because of the keto diet and being wheelchair bound (and not walking and standing up) my son has chronic constipation. He uses macrogol 2-3 times a day and gets a clysma when needed. Because he doesn't produce enough regular bowls, he gets almost daily intestinal coils with water using a long catheter. This helps to prevent him from being totally constipated (he was admitted in the hospital twice for this.)

When having problems with MCT fats a classical ketogenic diet might help because it contains just LCT fats. A keto diet is not only used for epilepsy (unfortunately not always positive for West syndrome) but is a treatment (sometimes even the only treatment) for some specific metabolic diseases concerning glucose metabolism.

Some other kids I know with seizures triggered by fasting, do have a Mick Key button for feeding them gavage with formula when they don't eat enough themselves.

And several kids who are triggered by sunlight seem to have flash light triggered seizures. Wearing (baby/childrens') sunglasses outside sometimes helps to prevent these seizures.

I know kids with infection triggered seizures who get a daily dose of antibiotics to prevent infections, sometimes given IV by a port-a-catch..

 

[vekasuiv]

Thanks, Dutch mum
I had such hard, hard days, not been able to stop my daughters seizures... Today she is not herself anymore... I hope she will recover...

 

[Dutch mom]

I know Vekasuiv, have been there when my son still had hundreds of seizures each day. And still am there on some days when they are bad again. My thoughts are with you and your girls. I wish I could promise you that it will get better but I can't. I can only hope some treatment will be found that helps to control it a bit more. Hang on there, you're a mom and you can deal with this, just like I did and do, You just have to.

 

[Nakamova]

Hi Suzana --

I can't offer advice for your specific situation, but I offer support and wishes that things will improve. I hope you are not struggling with on your own and have help from the medical professionals and others to take care of your twins.

:hugs:

 

[vekasuiv]

Thanks, Dutch mum and Nakamova,
I can only say that 6 mo earlier she had NORMAL EEG for the first time, she started to use hands, be more emotional, to vocalize more, walked longer and better, showing that she understand some sentences like go to bath, we will go out, giving some signs that she is thirsty or hungry or wanted to change diaper etc. And now she can barely walk, gone in one month. I asked for help because I am so scared what drs will do to her when they catch her (my bad experience with other sibling). I fought until now with diets and supplements, but this is beyond my knowledge...

 

[Dutch mom]

A very sudden stop and retardation in development, along with loss of normal contact with a child and a hypsarrhythmia pattern on the EEG are, together with (not always) visible infantile spasms, the known specific features which characterize West syndrome.

Several mitochondrial diseases like Glut1 Deficiency (Glucose Transporter Syndrome), Pyruvate Dehydrogenase Deficiency (PDHC), Pyridoxine Dependent Epilepsy, GM3 Synthase Deficiency; Tuberoses Sclerosis; several chromosomal abnormalities and syndromes like CDKL5 syndrome, Rett syndrome, Down syndrome, Angelman syndrome, Sturge Weber syndrome, Aicardi syndrome and Menkes disease can all cause West syndrome.

But there also are many children with idiopatic or chryptomatic non-further diagnosed West syndrome.

Did she try Sabril (Vigabatrine), ACTH, prednisolone/corticosteroids and/or Ganaloxone yet? These are usually first, second and third choice treatments for West syndrome, which or these is the most common first used/common order differs per underlying diagnosis, per country and sometimes even per neurologist/hospital/center.

I don't know whether the forum is still so active as it was before, but several years ago I read and wrote a bit here http://www.infantilespasms.com/forum/ and found it to be a very useful forum for information, experiences and support for parents to children with infantile spasms or West syndrome (and even Lennox Gastaut syndrome cause west sometimes develops into LGS). I see several 2015 post on the index page so I guess the're still active, For specific support I would like to recommend you to sign up. Several parents there have West children with uncommon and rare underlying causes.

 

[vekasuiv]

She is on sabril and valproate, we increased valproate and this helped a little, instead of 30-40 seizures per day she now have 15-20, but I do not want to increase it anymore - she have less seizures, but seizures are stronger. Neurologist told us not to touch sabril because she is on it and the same dose for 7 years (her eyes were ok last time we checked, but I am scared). ACTH helped first time to stop her seizures, so she was seizure free for seven years. I don't think she will allow ACTH again because she does not have hypsarrithmia. and this is a reason why nobody tried ACTH on my other daughter; she overgrowth hypsarrithmia when she got seizures. Today I tried first time 18% CBD oil for her, 2x daily size or rice seed, to other daughter I gave MCT oil; we will see.. Other daughter didn't respond on CBD oil, at list I thought this when I tried a year ago... But now I discovered both suffered from calcium deficiency, probably for years because total calcium was checked all the time, but they had low free active calcium, and when this was corrected, she is better, but not good. She have several different kind of seizures and I think each of them is triggered by different thing. I don't have all missing links yet...
Triheptanoin oil sounds promising for "hungry brain" but it is not available yet. I didn't decided what to do with inflammation yet. I tried black seed oil, at first I thought it helped but now I am not sure... anyway, I should make a break for a month.
Thanks for information about forum, I will check it. I joined one Facebook group for children's epilepsy, they replied rarely and are not well informed. Everything was about drugs, nobody speaks about cause and how to correct it.

 

[Dutch mom]

My son is on a calcium supplement, 3 capsules of 500 mg a day, because of low calcium in the keto diet. The pharmacy makes magisteral capsules of pure calcium carbonate added on with microcrystalline celluloses. The health insurance pays them because of the diet prescription.

About 'correcting the cause': I am afraid this is not always possible. I wish it was. My son's brain damage is uncorrectable for sure, I am afraid your daughter's metabolic problems are most likely uncorrectable too. But it is a good thing at least to understand the cause as well as possible and to try to minimize the consequences in any possible way (unless the treatment is worse of cause.)