No Feeding Tube... Yet

Rayleigh had a visit with her pediatrician last Monday. We discussed how poorly Bug has been eating and also how she's been behaving and how seizure control has been. She is referring us a GI doctor that is familiar with the Keto Diet and with children that have neuro disorders. I have to call tomorrow to get that appointment scheduled. The pediatrician also wants us to talk to Bug's neurologist about her medicines because she thinks they could be the problem and that would be an easier fix.

I talked with her neuro on the phone for about 30 minutes going through Bug's seizure journal that I keep. It's just a notebook that I write each day of all of her seizures, changes in meds, mood/temperment, how she ate and if she was ill or teething that day. We went back through several months to figure out when was the last time she was eating well AND had fairly good seizure control. It appears that the best she was doing in recent months was when we were still on a low dose of Lamictal and working out way up on it AND was still taking a small dose of the Vimpat.

So here's our game plan: Stay on the 3.25:1 ratio of the Ketogenic Diet for a little while longer (she's tolerating well enough and we don't want to make too many changes at once). Meanwhile, we'll stay on 1 pill of Clobazam/Onfi 3 times a day and the changes will be to lower Lamictal in the morning to 2 pills and keep doing 3 pills at night and we are back to 1/2 pill Vimpat twice a day.

- Long story longer -

Bug's pediatrician said that Bug may have built an immunity to the Prevacid because it's really only meant to be taken for a couple of weeks at a time and Bug has been on it for months as a daily antiacid. She said rather than continuing to raise the dose every time it stops controlling the reflux she wants us to switch Bug to Nexium so we started that yesterday and she seems to be doing well on it. She vomitted last night but I think it was the adjustment from no Prevacid to a new medicine that takes a couple of days to take effect. No vomit or acidy smells today so I think the Nexium is doing it's job now.

Bug is still not eating well. We'll keep pushing until we figure something out that works for her. The pediatrician said Bug is down to 25 lbs which is only 20-30 percentile for weight. She's lost 13% of her body fat which is a big deal and has all of her doctor team working hard to find a fix - and her parents, too!

No Results But a Few Changes

That's right, we STILL don't have the results. I am still one very frustrated mama and just wait, it gets worse.

So I've still been calling the epileptologist's office weekly to check on the results but they have no updated status for me. So the nurse called the labs and said she still has no update for me. Then last week she said that she spoke to the epileptologist and he said that if we do not have the results of the genetic test by October 2nd (Bug's next appointment with him) then we will re-draw the blood and send it out all over again. UGH!

So it sounds like her blood is MIA.

To be clear, the nurse said that the re-draw will be at no cost because this was not our mistake. Obviously. There is no way we can pay that all over again, we went through lots to get enough money to do it in the first place! (Thanks again to everyone who helped!!)

In other news, Bug has really not eating well. She takes the first few bites of a meal and then starts crying, whining, spitting, choking, using her hands to push us/the spoon away and using her tongue to push food out of her mouth.

Bug is on the 3.25:1 ratio (lowered again since last post) and her ketones are still high 160 but she still has to take 2 Prevacids a day to keep the reflux controlled or she vomits. I'm really not happy about her having to take 2 Prevacids so I'm going to see if we can keep lowering the diet ratio.

We have an appointment Monday with her pediatrician to talk about her eating habit and discuss the option of the G-Tube. I've been doing a lot of research on G-Tube recently and I'm not too excited about the idea but if it's what Bug needs to get nutrients and stop losing weight then it's what we'll have to do.

I'll do a post after her appointment to let you know what we talk about and what we can do to get her eating again.

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Bug's current medications & control:

• Ketogenic Diet 3.52:1 ratio
• Onfi/Clobazam, 10mg: 1 pill 3 times a day
• Lamictal, 25mg: 3 pills twice a day - just started this dose today, full dose

Bug's seizures have gone from 4-5 a day to 1-3 a day, so a small improvement. They continue to happen mostly at night after she falls asleep. Bug is still not taking naps. She has been very irritable the last week, could be from the diet ratio change or the tummy problems. She just cut a molar and has one more to go but it doesn't even feel close so we're just waiting on pins and needles for that little monster to start bugging our Bug and pushing through.

We Thought We'd Have Some Answers By Now

Well, the title pretty much sums it all up. Rayleigh is 2 1/2 years old. We've been on the epilepsy road for over 2 years with no explanation of why. We finally found a genetic disorder that she really seems to fit (CDKL5) but the results are taking FOREVER! Or at least it feels like it.

I've been calling the epileptologist's office twice a week, every week, for the past month to check on the status or see if they've gotten the results and every time I hear the same thing "We have the results for the Rett Syndrome test and they are negative, we are not showing any other DNA results back."

Then I have to go through and explain the specific EIEE test that we had saved and earned money for to get Bug tested for CDKL5 along with 2 other rare genetic disorders.

I did this last Friday and his nurse said, "There's a DNA test result in here, has Dr. Ng called you with the results?" I informed her that the only results we've received were through the mail and were negative Rett test and normal glucose levels. She said that she would flag that test and have Dr. Ng call us.

Then she called us today and said that Dr. Ng reviewed all of the test results on her file and she is negative for Rett. I was thinking "Are you kidding me?!? I get it. No Rett. That is not what I have been calling about." So I politely asked if there are any other genetic tests that have come back and explained exactly which test results we were waiting on and she said that those results weren't in there but she would talk to the epileptologist and get back to us shortly with either the results or the status of the testing. She didn't return my call today so I'm expecting to hear back from her tomorrow morning - or I'll be calling again, the nagging patient gets the results (my father-in-law always says "The squeaky wheel gets the oil").

I just don't understand what could be taking so long and why there is so little I can do from my end. I am one frustrated mommy tonight.

I keep trying to reassure myself by saying things like "What's one more day? It's been this long already." But seriously, I want to know yesterday!!! That being said, I went ahead and joined the CDKL5 group on Facebook as suggested by a friend and they really feel like family already. So I'll keep focusing on the positive and nagging nurses and waiting (impatiently) until those results come in. And I promise to keep you posted :)

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Bug's current medications & control:

• Ketogenic Diet 3.5:1 ratio
• Onfi/Clobazam, 10mg: 1 pill 3 times a day
• Vimpat, 25 mg once at night 
• Lamictal, 25mg: 3 pills twice a day - just started this dose today, full dose 

Unfortunately, Bug's seizures are still at 2-5 seizures a day, they continue to happen mostly at night after she falls asleep. She has not been napping as a side effect of going up on Lamictal. We hope to get naps back after she has stabilized on the full dose, we'll see.