hi all! I am here attempting to learn how to help my son better

[mmella]

My now 3.5 year old son was diagnosed a year ago with Doose syndrome via mutation of the SLC6A1 gene, he had started having seizures at 5-7 months of age and I had attempted to address this with our pediatrician and the referring neurologist for a year before his actual diagnosis but it took his seizures changing presentation to drop seizures in the bath tub before they sounded the alarm of possible seizures and scheduled our first EEG. He is currently taking 5ml of Keppra twice a day and Levetiracetam 8ml twice a day and an accompanying 50mg of vit B once a day. We haven't had any break through seizures in a few months that I or his dad, or school teachers have noticed (although I am not completely confident his school environment is as attentive as I would hope). Does anyone here have any experience with these two diagnosis that they could provide stories and opinions on? We haven'y had many interactions with his specialists since not having breakthrough seizures and I want to be relieved but also don't want to be missing anything. His Speech development is delayed enough that we qualify for early preschool intervention and I am seeing some improvement but maybe not enough?

 

[Nakamova]

Hey mmella, welcome to CWE!

I don't know offhand of members who have reported having children with Doose syndrome, but folks may chime in.

It’s great to hear that the Keppra has helped. [That’s the brand name of Levetericetam, so I wonder if the second medication is something else?]

Is your son’s neurologist a pediatric epileptologist -- if so, that's a real plus, hopefully they can provide more information about what to expect.

Best,
Nakamova

 

[Porkette]

Hi mmella,

Welcome to the forum! I used to work with students in public school that had different syndromes and seizures just like
me. Over the yrs. I found the best thing to do is to see an Epileptologist at an Epilepsy Center which are found at big
hospitals or university hospitals.

If you want to find the correct meds for your child have the Dr. do a DNA test on the child this will show the amount of
enzymes in the liver along with the body chemistry and by doing that the Dr. can match that up too the best seizure med
with the least side effect. I know when I was on keppra I had a terrible temper so I had to go off the drug.

If you haven't started yet keep track of your childs seizures get a calendar and write down what time your child had a seizure
and the type of seizures the child had. Also take note if there's low pressure in the weather or if your child is sick because often
these 2 things can trigger seizures for some people. By keeping track of the seizures the Dr. may see a pattern in your childs
seizures as to what day of the month they are more likely to happen or what at time of the day/night they will happen.

I wish you and your family only the best and May God Bless You,

Sue

 

[Andrew]

Sodium- And Chloride-Dependent GABA Transporter 1

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC6A1

Has your son had his Electrolytes tested?

Electrolyte test

Find out why and when an electrolyte test may be needed. Also, read about the possible treatments that may be recommended if you have an electrolyte imbalance.

www.nhs.uk

Second-line treatment

If the first-line treatment options don’t work, your child’s doctor should consider the ketogenic diet for your child. This could be on its own, or in addition to epilepsy medicine.

Epilepsy with myoclonic-atonic seizures - Epilepsy Action

Epilepsy with myoclonic-atonic seizures (EMAtS) or Doose syndrome is a rare epilepsy syndrome affecting young children.

www.epilepsy.org.uk

How to Get Started With the Ketogenic Diet

The Ketogenic Diet, or Keto for short, is a way of eating that mimics the effects of fasting. Learn how to get started.

charliefoundation.org

https://www.matthewsfriends.org/

My story regarding B vitamins: https://www.coping-with-epilepsy.com/threads/40-years-on-vitamin-b6.11674/ (I have now been prescribed vitamin B6 for over 51 years. I have had a genetic test which confirmed mutations in my PNPO gene - PNPO Deficiency)

**DO NOT ALTER ANY MEDICATION WITHOUT YOUR DOCTOR'S CONSENT**

 

[Bernard]

Hi @mmella , welcome to CWE. The following link lists discussions of Doose syndrome in the forum:

doose syndrome

www.coping-with-epilepsy.com

Hth!

 

[elizzza811]

My now 3.5 year old son was diagnosed a year ago with Doose syndrome via mutation of the SLC6A1 gene, he had started having seizures at 5-7 months of age and I had attempted to address this with our pediatrician and the referring neurologist for a year before his actual diagnosis but it took his seizures changing presentation to drop seizures in the bath tub before they sounded the alarm of possible seizures and scheduled our first EEG. He is currently taking 5ml of Keppra twice a day and Levetiracetam 8ml twice a day and an accompanying 50mg of vit B once a day. We haven't had any break through seizures in a few months that I or his dad, or school teachers have noticed (although I am not completely confident his school environment is as attentive as I would hope). Does anyone here have any experience with these two diagnosis that they could provide stories and opinions on? We haven'y had many interactions with his specialists since not having breakthrough seizures and I want to be relieved but also don't want to be missing anything. His Speech development is delayed enough that we qualify for early preschool intervention and I am seeing some improvement but maybe not enough?

If you're willing to travel, there's a doctor in Missouri, Dr. Simon Yu, who believes all disease is caused by parasites/microbes. He treats a lot of cancer patients, but he deals with other diseases too. I'm not sure if he takes insurance, but watch some of his YT videos. Don't be turned off by his acupuncture meridian assessments, though there is truth in them. He uses old time antiparasitics. Might want to at least consider.