no real questions, just wanting support (warning-long post)

[snadaska]

Hi,

Where to begin..I have a 16 month old DD.  Last week she had a febrile seizure.  SHe had been feverish for about 3 days off and on and was just not feeling great. The fever would come on really suddenly. I noticed on the third day that she seemed esp warm so I took her upstairs to take her temp.  She really doesn;t like me to take her temp and so was sort of crying and getting upset about it.  She then went on the ground and was seemingly having a tantrum. I didnt respond right away because I thought it was a tantrum but then I rolled her over and saw she was having a seizure. It maybe lasted 5 seconds and then was unconcious. I was so scared. Most frightening day ever.  

We took her to the hospital via ambulance.  They said she was stable. Checked her vitals and glucose and all was normal. I was freaking out because my daughter had been thought to maybe have a metabolic disease at one point. THe disease is glutaric acidemia type 1.  I honestly thought she was having a metabolic crisis and would not recover, meaning not walk or be brain damaged. When they pricked her finger to check glucose and she started kicking and screaming I was so relieved. AN hour later she was the same as usual and seemed unscathed by the event thankfully.  I however am not the same.

All of the metabolic testing we have been through has been hard. Here is the short version. My daughter had 2 normal expanded newborn screens. At 6 months she wasn't gaining wieght as well as the drs would like so they did some tests. One test, an acyclcarnitine profile showed C5DC being off which points specifically to glutaric acidemia type 1.  They checked Glutaric acid and it was "mildly elevated" and the 3hydroxyglutarate was also "very mildly elevated".  SO next thing you know the drs do a DNA test and find she has no mutations in the gene that makes the enzyme (cant remember teh name). They tell me this test almost guarantees she does not have the disease. Almost? What? We do more testing ruling out GA2 and then we do a skin biopsy which come backs normal. This is all at colorado childrens. Nevetheless I still am scared.  The drs even said prior to testing they didnt think she had it because she has no symptoms.  For example, normal head size and growth, normal tone, no dystonia, no hypotonia, and she is advanced both gross motor-wise and in language development.

If no one had mentioned this awful disease to me in the first place I would never have thought anything is wrong because she really seems completely normal.  She has also been sick 3 times without having anything off until this seizure. NO regressing or anything like that. Now I am having a hard time getting back to how I was.  I am so happy my DD is fine but how will I be fine? 

I reached out to a specialist at Kennedy Krieger and he offered to look over her metabolic tests.  He thought it most likely that she has some gut bacteria that caused the mildy elevated levels. How bizarre is that. Meanwhile  I live in fear that she will develop symptoms of something but I don't know what.

Thank you so much for reading through this. I have been feeling so overwhelmed lately.

[Kristine233]

Hugs mama, its definitely hard when you don't know whats going on.  With that said, its not terribly unusual to have febrile seizures.  The body can have seizures randomly for the crasiest reasons and still be perfectly healthy. Hopefully this is the case with your daughter as well.  It is really scary though! My son had a febrile seizure when he was around a year old and it was one of the scariest things I've ever witnessed.  The worst was when the Drs told me it was normal and I felt like they should have done more at the time. I hadn't known that febrile seizures weren't uncommon at the time, so as a parent my instinct was to find out what was going on. 

What metabolic signs/symptoms is she having that makes you consider that as a possibility? There are a lot of mamas here with kiddos with metabolic issues and perhaps they can help point you to the people that can help you?

[coyotemist]

Hugs, Mama!  As Kristine said, febrile seizures are normal.  Many children have them and go on without any issues. 

It is good you've reached out to the specialist, he can look over her tests.  Most likely, since others have looked at them, she is fine.  But better safe than sorry.

The reason they said that most likely that she does not have the disease because very very occasionally someone presents with all the symptoms but they can't find a defective gene.  If she has no symptoms and no defective gene, most likely she does not have the disease.

Good job advocating for her!

[Emmeline II]

Febrile seizures are caused by a spike (or dip if the fever is dropping) in body temperature, which you had already noticed was happening. They are normally not harmful.

http://www.mayoclinic.com/health/febrile-seizure/DS00346

[snadaska]

thank you for your replies. I appreciate it so much. These forums are so wonderful.  

Things are much better today. My daughter is feeling better although she now has a rash all over her torso. It doesn't seem to bother her although it looks awful. Dr said she has roseola. 

Kristine-My daughter doesn't have any symptoms of any metabolic disease. Its just that  having gone through all of the testing has left me feeling paranoid . I feel bad saying that because I know that that "problem" I have is really no problem at all. My daughter has no symptoms of anything and drs are reassuring me she is fine but my mind hasn't really allowed myself to let go of the fear. If that makes sense.

 Please don't misunderstand -we feel so fortunate that things turned out well its jsut that I don't have any IRL friends who can even relate to how scary the experience was for me. Waiting for tests results and having skn biopsy and such. We were always waiting and then at the end the docs say "ok you don't have to take her to teh ER when she gets sick just treat her normally" The first time she got sick and was vomiting I was so scared and then she was ok and now this roseola thing has been kind of scary too. THe fevers frightened me. But really everything is fine and I just have to relax a bit.

Thanks again to you all.