Infantile Spasms and CDKL5 mutations...

I had posted this story about my daughter on a different website a while back.  We have since started the drug ACTH, and for the last month, she has been seizure and spasms free.  We hope we can get some more answers here on this bigger and more well-known website.  Please read on to hear our story, and hopefully, somebody else out there will have some more answers for us: 

This sad story is about our 12-month old daughter, Ashlyn. She had been diagnosed with IS about 2 1/2 months ago at the Cleveland Clinic. She is now 11 months old and first started having seizures at 4 months old. We had finally gotten the opportunity to get Vigabatrin once it got FDA approved and it worked great after the first night she got put on it. For about 3 weeks straight she was seizure-free and what seemed to be IS-free.

Everything seemed to be going great up until about 2 weeks ago when I first noticed the subtle little head drops while she was laying on her back. I was playing with her and I noticed her eyes acting kind of funny. I then sat her up, and that is when I noticed the head drops. When she was first diagnosed with IS, her arms would extend outwards in clusters and she would often cry. The tell tale sign that she had IS. She never had any head drops, though.

Her Vigabatrin was then increased to 750 mg in the AM and 750 mg at night. About 3-5 days passed and although she still had a few head drops here and there (mainly at night, it seemed), she still seemed to be improving. Eventually, she seemed to quit doing the drops for about 3-4 days (or at least we didn't notice them) and we thought she was getting better again.

Now fast forward to yesterday afternoon. I was watching the Ohio State/Michigan game and looked over at her while she was on her stomach and noticed her head drop and hit the floor rapidly about 5 times in a row, within about 5-6 seconds. I grabbed her quickly and set her up and that is when I about lost it. She was having head drop attacks about every 1-2 seconds, all very quick. One after the other. It was like she didn't even have a chance to get her head back up before the next one would hit.

She did this for about a minute straight (she probably had about 45-60 head drops within that minute), and then I noticed her eyes kind of roll up to the left side of her head and she began to drool. I layed her down on her back once I saw this and continued to monitor her. I could tell she was still doing them rapidly for about another 2 minutes as her eyes were continuing to go up after every spasm. They eventually slowed down, and after about 5 minutes they finally came to a halt.

I had called my wife, as she was out for lunch, and told her what had happened. She then proceded to rush home. We then called her neuro and told him what had happened. She is currently on 750 mg of Vig, 3 mg of Topamax, 1 ml of Klonopin, and also 5 ml of pheno. We had been told to take her down 1 ml of pheno last night, and we did so. The next day is when she had the drop attacks, but even myself and the doc had agreed that that probably wasn't why she had the attacks (she has been on pheno since she was 4 months old, with no improvement in her seizures).

He then told us to bump it back up and keep everything the same until our Tuesday office visit. Well, around 7:30 pm later that evening, I was getting ready her medicine ready when she had another round of the drops. This time it only lasted for about 1 1/2-2 minutes, but they were just like the last time- lightning quick. One after the other until they eventually slowed and went away. I then proceeded to give her her meds, but only 500 mg of the Vig, as we only had enough to last until Tuesday, and that was only if we bumped it back from 750 to 500 until then. (We had called Saturday to see about getting some more, but they said that nobody was there on the weekends to package it and ship it. WTH?!).

Our neuro told us to bump the phenobarb back up over the phone to 5 ml, and also agreed that we should just give her 500 mg of the Sabril so that at least she would be getting some before her next shipment arrived(she had the drops earlier despite having the full 750 mg in the AM, though). I gave her her meds and then proceeded to lay her on the floor and continue to watch her. About 20-30 min after her meds were given, she had another cluster, but this one only lasted for about a minute. She may of had like 20 head drops within that minute. She then proceeded to get sleepy and eventually fell asleep.

Our neuro was telling us that ACTH seems to be the next step, and that it is probably time to go at this more aggressively. My wife is terrified, however, as our neuro has already lost at least one baby while they were on ACTH. That was one of the first things he had told us when she first started having seizures and my wife and I thought she had IS, or was developing it around 5-6 months of age. He had told us that if she did have it, he'd want to try Vigababtrin first, as he had lost a baby using ACTH. Of course, this worried me, and terrified my wife.

Well, fast forward again, and after what seems to be a failure run with Sabril, we are now turning towards ACTH. What our neuro had first told us about the dangerous side effects of ACTH could possibly become a reality with our beautiful little girl, Ashlyn. I'm not as hesitant to start using it as my wife is, though. I feel like we have been conservative enough and we need to be aggressive now, however, I am still very nervous and uneasy with this. The first thing my wife thought about when we were told that ACTH would be imminent is the baby that Ashlyn's doc lost about 1-2 years ago while they were using it.

So, now that I have updated everyone on our current situation, has anybody else gone though this? Did their son/daughter have these insanely quick head drop attacks before, and if so, how and when did they stop? Has anybody here tried the Vigabatrin and have it fail, only to find success with ACTH? Please, as much as I hate to say it, I am starting to lose hope and faith in this whole situation. Please don't take that the wrong way, though. I still have hope and continue to have faith. But one can only stay optimistic for so long before they eventually start to lose a grip on what is happening and their faith begins to dwindle.

Please, now, more than ever, my wife and I need some support. Our family and friends continue to think that everything is fine and that things will be okay (although, we pray it will be as well). We both came to the conclusion that nobody else besides us (and the other amazing and strong parents whose kids are going through this) realize how dangerous and potentially life-threatning this is for our dear little Ashlyn. We want and need answers, but unfortunetly (and thankfully), all we can turn to now is you gals and guys. We are all in this fight (or have been) together. Do we still have reason to be optimistic? That little girl is my wife and my world. We don't want anything to happen to her, but we also don't want her to have to grow up and be completely dependent on those around her because she can't even think or move on her own. I am terrified on what has already been done to her brain. Thank you to all who help us out on this one.