The diagnosis and moving forward

So I am a little behind, but I think that is OK. It’s been a rough and trying week.

The MRI came back normal – thank goodness. Now it means this is likely a genetic disorder – and since neither of our families have been able to confirm anyone ever having this, we have to assume this genetic mutation is new to the “family”. From here we focus on the medicine and hope it curbs the seizures. I am not comfortable giving a newborn this kind of medicine, but I understand not doing so means I could, and likely would, lose my daughter.

AJ’s acclimation process with Keppra has been a trying one, but I am hoping we are getting there. As of now the seizures have majorly changed their presentation. She is having clusters of seizures – some are getting much longer – so far the longest being 2 minutes. These long ones get me nervous, to the point I say her name, touch her face in hopes to snap her out of it. I can’t let her go to 3 minutes, otherwise we risk extremely adverse situations. It also scares me that what I see during the day, may be happening at night – while I am in bed. We talked about those special mats or even shirts you can buy that detect odd movement – but what newborn do you know that doesn’t have some kind of odd movement? So, unfortunately at this age it would render useless for us.  So here – even this agnostic girl prays.

Friends and friendly acquaintances of mine have told me many stories of people they know, or they themselves, who have had to deal with seizure disorders and how they grew out of it. I always ask “How old were they, you, when the seizures started?” and so far the response is late childhood, early teens. AJ is one month, and even the pediatric neurologist states that her starting so early is worrisome. Sure I can try to remain hopeful – but I am not going to sit here with rose-colored glasses and think everything is peachy-keen. She is so young, and so far trying to find related medical or individual information for newborns and seizures has been limiting – mostly  the information I have found has been related to children who are 3 months or older.

All I can do now is be extremely watchful of AJ and any changes in her, or the seizures, that seem out-of-place. I am, and have been, reading up on everything I can (knowledge is power) so I can be very aware and cognizant of what to expect down the road should things go in the wrong direction. I also have been studying this so I am aware of the daily things to consider if we are able to get them under control: like ensuring she gets enough sleep, limiting some amount of stress, possible diet changes etc. I want to know of every therapy, medicine and anything new that could help improve her life.

I will admit though it is very disheartening to know that any new scientific findings  around epilepsy will be limited, at least for the foreseeable future. This disheartened feeling is not just with respect to my daughter, but also anyone having to deal with these types of brain disorders. There are 3 million people in the US and nearly 50 million world wide afflicted with epilepsy. Nearly, or exactly, as common as breast cancer. Yet, it is one of the lowest funded for research. On top of that, 1/3 of those afflicted, do not respond to the medicine. So, what is modern science doing for them? It baffles me how something like this just gets over looked or shuffled around. Of course, I would never have known how our government tries to ignore these diseases if it were for AJ’s diagnosis.

We have a 24 monitoring session scheduled soon.  When she was given her first EEG, it came back abnormal, but they didn’t get any seizures, they only physically saw them. This test will hopefully give us a better indication of how many and what we are really dealing with. Until then, its medicine, note everything we see, communication with the doctors and try to remain positive, at least for her sake.


4 responses to “The diagnosis and moving forward

  • Robert Donald Kennington

    Deb and I know all too well how hard it is when the doctors don’t have answers. I know there is nothing we can say that will make this less painful and difficult. All we can offer is our love to you, Jesse, Abby, and AJ, and our sincerest hope that things start looking up soon.

  • Tamara

    My youngest has severe epilepsy, Lennox-Gestaut Syndrome. He started shortly after he turned 3 and is on the Ketogenic Diet for epilepsy. Its a long road sometimes.

    With no CT or MRI problems, they generally say it’s idiopathic (unknown origin) rather than genetic. Later on, they may do some genetic testing to make sure its not something really rare.

    We keep Luke in with us. For a long time I held him while he was sleeping because that’s when he has most of his seizures. At the moment he’s on a cot in our room because we recently added additional medication which has given us good night control for a bit.

    There are quite a few Facebook groups for epilepsy. YahooGroups too. Don’t do this alone.

    My husband Dean (ponderings) knows your husband through Python and he sent me this link. If you’d like to talk sometime, to vent, or have any questions…just let me know.

  • Stephan Funderburk

    Nice and informative.Thanks for sharing.

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