trintiybella

I have an appointment on Sept. 4th for my girl.I tried...but I CAN NOT wait. She is suffering too much. Never tired and does not sleep.Anyway...I have a few plans to get in earlier. 1.) Call and BEG for earlier appointment. 2.) See if Dr. Br. (psychiatrist )will call them 3.) Go to ER @ NYU Please give me some advice.

Nancy-Did you add the Meth. and B vitamins a little at a time? You did not see any hyperness with the B's? My child goes wild with these.

All the B vitamins had made my child more hyper at night. Perhaps this one will be different. Fingers crossed.

My child had 4 EEG since birth that showed abnormal EEG', but no seizuress. Doctors said that was common to see. We are going to delve into the abnormal brain activity again with antother doctor and we are going to get a sleep deprived EEG on the 20th. We are also going to try some topomax from psychiatrist to try to stop racing thoughst and get her to sleep. My question is: if we introduce the topomax, will that skew the brain waves on EEG? I just don't want the EEG to look normal from the topomax and get no help from doctors. Any advice is welcome. Thanks so much.

Is it able to tell if there is strep or bartonella bacteria?

Did it tell you anything that you did not already know. Thanks!

Can you please tell me what has helped the most for racing thoughts?

Dee Dee- Dr. T. Gave us Rx. For EKG that we just had done. Do you think I should wait for results before making appointment with pediatric cardiologist?

something to do with the mthr mutation (only on one gene) that showed up on blood work. Then it showed up again on the genetic testing that doctor T. did. I welcome any suggestions or advice. Thanks

Anna - did your test say anything about folate deficiency?

I took my girl off antibiotics until we have an EKG. Playing it safe. Anna, where did you see the list. I can't find a good one yet.

Anna. My child also gets palpitations while on lots of medications. Have you found a list of medications that are not suppose to be taken if you have this mutation? Thanks.

Very interesting. Just got our genetic testing back too and found some thing. She had CDKL5 mutatin on Exon 16 and Long QT Syndrome 3 mutation. Getting EKG today if I can get her out of house. I also have an appointment with epeliptologist and genetisisit at NYU. I wrote into a doctor that has been researching these genes and this is what she wrote back to me: I think that they will need to run a few more genetic tests to make a diagnosis as the CDKL5 test has picked up a mutation however it is one that they have found in people who do not have any symptoms so they dont think that it is disease causing. The other results seem to be similar to this as well, we have lots of mutations that dont actually cause any issues. The thing is though that the tests which you have had done would only pick up certain mutations and we know that in CDKL5 that there are other mutations that this test would not have detected. I think that they will need to run some more specific tests and even perhaps a micro array to be sure. Your daughter does sound as though she is quite different to the other children in this group however because we still know so little about the CDKL5 disorder there may be even greater variations in the clinical presentation. I hope that you find some more answers after your appointment in September

Thanks pow pow. Fingers crossed. I feel really good about this combination of doctors. I appreciate all of your concern and help!

Did some genetic testing with Dr. T. and found two mutations: CDKL5 mutatin on Exon 16 Long QT Syndrome 3 mutation Have an appointment with Dr. D. @ NYU and...a genetisist over there too. She is still up all night and when she sleeps for an hour her eyes keep opening and closing. Not sure if these mutations have anything to do with it, but we will see.

CDKL5 I meant

Just that she has CDKK5 mutation and wants her to have EEG. I will pm you. Thanks!

it is a letter to beg for him to see my child, that i can not get any relief for after 13 years. can i send you a letter to see if is sounds ok?

Is genetic testing done with saliva test accurate? Always heard it was done with blood work.

The doctor wrote the following to me...have you heard of this? "I think we have a potential diagnosis . it is related to CDKL5"

She has always had sore ankles, but now complains that when she stays on feet too long, bottom of heals hurt. She said It feels like the pointy bone inside her foot is making direct contact with the ground and there is no cushioning between them. Anyone have this?

Yes, we treat clostridia. I continue to search and ask questions in addition to what any of her 5 doctors say.

I had some genetic testing done for my child with Dr. T.... He wants me to do a phone consult to get results. It's going to be 300.00 dollars. To be honest, times are REALLY tough financially. I am planning on seeing Dr. Bock, and Dr. Najjar in the future. Can I bring the tests to them instead to read? So I can save some money? Also...are the tests hard to read? Are there red flags on tests that I may able to see myself??? Thanks!

Sometimes I wonder if my girl has some other gut bacteria, other than the bartonella and lyme. Have you ever had to give something else like flagyl, in addition to antibiotics for Bartonella and lyme?

We tried steroids and she was so aggressive on them. I pushed through the whole treatment. It was horrible! We also so nothing good come after treatment.