Trying to come to terms with the fact that my 9 month old is likely to have neurological condition

[Leza1]

Our little girl was diagnosed with epilepsy at 3 months and is now 9 months. They are struggling to get her seizures under control and she is on the fourth lot of medications- at the moment she is on clobazam (Which makes her very sleepy and floppy) and epilim. She is developmentally delayed - by 6 months she could almost sit, was very strong during tummy time, alert, smiley etc but never used her hands appropriately. Since starting on clobazam she is like a different baby - can barely hold her head up let alone sit or do tummy time, no longer smiles very often, is tired, zoned out etc and still doesn’t reach out for things,. We put it all down the medication but after a couple of months we started to see some improvement but she has regressed again . The consultant has said that she thinks it is likely thar there is a neurological/genetic condition that is causing the epilepsy and the developmental delays. As we are yet to find out what the condition is (and apparently may never know ) they cannot give a prognosis or indeed confirm if she will even be able to walk and talk. So far the MRI/EEG and Microarray are clear. We are waiting on the epilepsy gene panel test. It is such a shock to hear that your perfect baby could have potentially life changing complications for the rest of her life and I feel so overwhelmed and lost. I am hoping for some words of encouragement from you amazing mum’s who have been through this. I would also love to hear from someone whose life is so much happier than they first imagined when given the news about their own child. Sorry for the essay.

Dear Leza1,

I have just downloaded the Mumsnet app amd this is my first posting.

I'm really sorry to hear about your daughter's epilepsy and the uncertainty that you are facing given her possible genetic disorder. Even more frustrating if you feel the medicines have negative side effects.

I know from experience that dealing with this is super tough on the parents and for some reason especially on the mother. My daughter was diagnosed shortly after birth with a chromosome abnormality and at 19 months she's delayed by about 9 months. We have seen many specialists already and I'd be happy to share some of our experiences.

I think the first step for a bit more sanity is to address the immediate concerns and to try and find a diagnosis. Having a diagnosis will ensure you better understand her condition and come up with an action plan.

1. A geneticist will be able to advise on how to get a full chromosome test that will identify if it is indeed related to a chromosome abnormality.

2. The neurologist may suggest an MRI that could identify if the part of brain causing the seizures- if this has not already been done. Given her age, they may want to do the MRI on anaesthesia so she will lie still. (We did MRI at 4 months so was able to "feed and swaddle" and she just slept through it)

3. A neurological development doctor can be very helpful in assessing where the delays are - but more so for suggesting the therapies and treatments that could be beneficial to your daughter. Insurance don't typically pay for these specialists but for us this was money well spent .

In an ideal world you would have one doctor overseeing all your child's needs but I've found that in reality it is me having to keep track of everything, and chase the NHS for the various referrals/therapies. Start to write down all doctors conversations and perhaps create a Google drive folder where you can save soft copies of all the medical reports.

Some days I just want to cry - it feels so unfair when you see you see "normal" babies and how easy they have it!

However Ive found that it helps not to overthink the "why" she has the condition, but rather try and put your energy into what you need to do for the next month. The future is uncertain so try not to think too many months in advance (easier said than done!).

Early intervention has been proved to really help for developmental delays, so discuss with your doctor which therapies they suggest. In our case we do physio, OT, SLT, and makaton. I combine nhs treatments with private therapists as nhs sometimes have long waiting lists .

Sending you and your little one a big hug and lots of love.

Bluegum