Tuesday, February 17, 2015

Asher's diagnosis

For the next 2 weeks Asher will be on 4 drugs as she weans off
the "new" one from December, with the newest one started today.
So after a week with no seizures, Asher had a seizure this morning just after 8am. I had been trying to make a few changes with her diet over the last week, just avoiding things as I could. I found it interesting that yesterday I just didn't have any ideas for lunch and gave her an egg. So we can't know yet if it's related - but it makes me glad that we are going to start the elimination diet properly now and will be able to see if food does indeed play a part.
I was very thankful that Brendon took today off so that he could come with Asher and I to the hospital. (And again thankful to the Love family for having our other children stay there for the day). There is construction work happening at the hospital, and so the parking that is available is a bit of a walk from the hospital now (and on the opposite side of the hospital to where we have to go). So it was a real blessing to just get dropped off at the entrance with Asher and then Brendon parked and met as at rooms.
Thankfully we didn't have a very long wait and we were already in with the doctor by the time Brendon arrived. When he came in the doctor actually said "oh, good, I am glad you are here" and Brendon knew something must be up.
The doctor explained that after I had called on Christmas eve, asking if the medication could be increasing her seizures, it got him thinking. In most cases, the new medication she started in December would not cause more seizures (and this was the reason he said no at the time). Children with Dravet Syndrome, however, do often have a reaction to that medication. So when he was back at work (they had called him at home on Christmas Eve) he decided to take the blood sample they had stored for Asher, and send it off to Germany to get tested. The results arrived just last week.
The doctor was right in his suspicions. Asher has a gene mutation which is most likely the cause of her epilepsy.
I knew I wouldn't get to write this post very quickly, so put some updates on Facebook. I think the easiest will be to just copy those posts and comments below. It gives a good summary of what is happening and further down is more details for those who want them (and I answer some regular questions that we get).

The sad thing about this is that she is most likely NOT going to grow out of it as we all previously thought. And it will most likely NOT be ever completely controlled by medication.
The good thing however - is that we have finally found a "cause" (the gene mutation). As with other Dravet Synrome children - so many tests come back looking normal (blood, EEG, MRI, spinal tap). So we thank and praise the Lord for answering our prayers for her doctor. God really has guided him. Not to mention that we didn't pay a cent for her blood to be sent overseas for testing.
I thank the Lord for the wonderful peace that He has given Brendon and I through this time. We are also incredibly thankful that she has done so very well through this last year. Compared to what children can go through with Dravet Syndrome - hers is very mild - and we praise and thank God for that.
The doctor is also amazed at how well she did last year, but very aware that things have really picked up. She had 22 seizures in the last 2 months.
I am so very thankful that I have a very solid rock through this time.
God is good - all the time. And all the time - God is good. 
It also sheds light on the swimming issue as it was most likely the light off the water that was actually the trigger - and not the temperature change after all. She showed photosensativity on her first EEG in 2013. The changing reflection off the moving water can apparently often be an issue.
For those who want a bit more info:
Dravet Syndrome is rare. Only 1 in every 500 children with Epilepsy have this syndrome. So this is why the blood test is not a standard one and needed to be done in Germany.
80% of Dravet Syndrome children have a very specific gene mutation. Asher's gene mutation is different however and fits in the other 20%.
Even though the doctor feels she fits very clearly into this syndrome - he has said she is on the lower spectrum. Basically - she is doing SO much better than most other children with this syndrome.
Praise the Lord for this.
Wheat is high on that list and she has been off wheat since about July last year (see "Grain Brain" as to why we choose to do that). I am thankful that we were guided to this decision then too.

If you have seen or read anything about Charlotte's Web - yes, it's the same syndrome that Charlotte has. We read about Charlotte's Web way back in January last year. The closest we can get legally for Asher is Hemp Oil, and she has been on that since Jan last year.
Charlette got to having 300 seizures a week. So you can understand how thankful we are. For those interested you can read about her here:http://edition.cnn.com/…/health/charlotte-child-medical-ma…/
I thank the Lord for guiding us to this way back then. I am sure that it has helped her, even though we didn't know how related their seizures were at the time. I gave info on Charlotte's web to her doc then too (he had not heard about it at the time) - and he mentioned it yesterday in explaining what he was talking about.
People also often mention the Ketogenic diet. We researched this early last year too. It has side effects and is not something we have felt was right for Asher. We have however encouraged good healthy fat intake - which has probably also been a help for her.
I have tried to get in as much coconut oil as I can and recently she has finally started enjoying a "chocolate" that I make with it (and cocoa, stevia and cashew nuts). Coconut oil has also been a great help to many people with epilepsy.
On diet - we are starting her today on an elimination diet - cutting out a number of foods that her body is reacting too. Although none are at a level of causing inflammation, one or some of those foods may be adding to the puzzle.

With dairy high on the list too - I am glad we didn't go full on to the ketogenic diet either - as that is really loads of butter and cream (so much more than what she enjoyed eating over last year).
She also started a new homoeopathic remedy around 3 weeks ago - so at this stage we really are doing everything we can to try and get improvement. Her doctor is aware of all that we are doing and I thank and praise God that the doc has never been negative about any of it (even if he does not believe any of it can help).
We appreciate your continued prayers for Asher.

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