the adlards

This post is part of a series. If you want to read in series start here: Digest 2009

In February 2007 Sophie had a couple of massive seizures, which we wrote about at the time. The ER had to administer high dosages of two different anti-convulsants, then kept her under observation while the drugs worked their way out of her system and testing began. She was a year and eight months old and was diagnosed with non-specific epilepsy about a month later.

We spent the remainder of 2007 into 2008 beginning to understand childhood epilepsy, finding a medication level that brought the epilepsy under control and beginning to focus on Sophie’s developmental delays.

Sophie had her last easily recognisable physical seizure in October 2007 but every time she was ill her speech and behaviour would regress and sometimes take a little while to get back to level. As she approached three it seemed to us that developmental delays were becoming clearer, so we sought a developmental assessment.

We were referred to an excellent neurologist who, on observing Sophie, was very concerned for her health and recommended ruling out some nasty conditions before considering conducting a developmental assessment.

The EEG I wrote about in late November 2008 was to rule out Landau-Kleffner Syndrome, in which regressions are increasingly severe and recovery from regressions is incomplete. We’d done some reading and thought it probably wasn’t a clear fit for Sophie’s symptoms, but it was a relief when the EEG excluded it.

What we hadn’t fully appreciated at that stage was that Landau-Kleffner was just the clear-cut outlier in the series of deadly conditions that could fit Sophie’s symptoms. This became clear in March 2009 when Sophie’s neurologist advised us that, having excluded Landau-Kleffner we should investigate mitochondrial disorders. Sophie’s experience was so consistent with a range of mitochondrial disorders, including experiencing effects on multiple systems, that the heavy cost of testing was clearly warranted.

I asked what the potential benefit was – what would a positive test result buy us? The specialist explained how for some conditions supplements can improve quality of life and even slow degeneration.

Ummmm, you mentioned degeneration a minute ago?

Well, some conditions are more aggressively degenerative than others, but given the seriousness of her history at such a young age, there is not a great deal of scope for optimism.

We sat across the table as the history was tied to the observations and the specialist couldn’t make eye contact with us any more and we suddenly had to deal with losing our beautiful little girl.

I can’t adequately express what that’s like, which is probably why I’ve struggled to express much of anything significant in the past year. We did a lot of research and the more we did, the clearer it was that this was a diagnosis that fit like a glove. We were left mourning for Sophie in the midst of ordinary day-to-day-life-with-three-kids.

Sophie underwent a battery of tests (I described the experience in June) for twenty mitochondrial conditions and a large number of ancillary indicators of possible metabolic issues. In South Africa it is currently possible to test genetically for 20 of the hundreds of known mitochondrial disorders, so we were hoping for a diagnosis, which would save Sophie the pain of a long international trip to endure a fresh muscle biopsy to obtain tests for the other known conditions.

There is quite a long processing time on the tests and we had a six to eight week wait for results. The genetic tests were negative, but several of the other tests raised questions. The specialist referred the results to a local metabolic specialist.

While we were waiting for an opinion, Michelle attended a conference on a Friday night and Saturday at a church at N1 city which was led by our old friend Nigel. On the way to the first meeting God spoke clearly to Michelle in the car and said “I’m going to heal Sophie”.

Now whatever you might believe, the moment God intervenes is pivotal. Things change despite themselves and despite you. Basically, God trumps anything else that might be in play.

So the next night Michelle took Sophie along to the evening pre-meeting. Sophie was prayed for and fell into unconsciousness for about 7 minutes. This wasn’t sleep – we know because one of the autistic-type traits Sophie displayed was oral hypersensitivity: she wouldn’t eat food with strange textures, she wouldn’t let you touch inside her mouth, cleaning her teeth was very difficult. She had been complaining of pain in her mouth for a few days and had begun to refuse to eat, so we were planning to taking her to the dentist (she wouldn’t let us look in her mouth and when we’d forcibly held her down we hadn’t found the problem). When she was out cold in Michelle’s lap Michelle opened her mouth and checked out her teeth and gums, eventually finding a ulcer tucked away up above her left eye tooth. Sophie never stirred.

From that time there was a marked improvement in Sophie’s development. Week by week she got stronger and stronger and more and more fluent. People who saw her at intervals and new nothing about what had happened seemed to comment continually about how much she had changed since last they saw her. That was something new for us. She certainly had setbacks when she caught the Cape Town winter viruses, but her communication was improving consistently and she was getting stronger. By October she had toilet-trained, something we had come to expect would never happen.

The local metabolic specialist, in the meantime, had referred Sophie’s case to a specialist at Great Ormond Street, who returned an opinion that Sophie was probably not suffering from a metabolic disorder and that, although unusual, Sophie’s tests and history may be consistent with mesio-temporal sclerosis – a common ancillary to epilepsy. This has allowed us to switch focus to more constructive remedial action.

Sophie continues to get better and better. We have recently read and heard the testimonies of older kids with mental illnesses who have been out cold under the power of God and had visions of themselves lying on the floor while His angels literally re-wire their heads. They’ve woken up completely restored. Sophie wasn’t healed in one hit, but she’s on the road and changing all the time.

Just in the past two weeks we noticed that her proportions have changed. She and Josie share clothes often because they’re similar sized, but Sophie always seemed to have a ‘long body and short legs’. We noticed in the week before Christmas that she doesn’t any more, and as we talked about it we realised that her ankles, which used to be rolled right inwards because of hypotonia and lax ligaments, are straight. Her feet are beginning to arch. It used to be that when she walked across a tiled floor you’d hear the “slap, slap, slap” of her flat feet coming. No more.

Sophie’s story’s not over, it’s just beginning.
It’s a good story.
One day we will look back on “the time Sophie was dying” and laugh. We’re nearly at that day; we are full of hope and we rejoice as she grows.

Perhaps the greatest gift we received this Christmas was this song for Sophie from our friend Colin:
Click here to download Sophie’s Song

This entry was posted on Saturday, January 9th, 2010 at 10:06 pm by james and is filed under Family, Sophie. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.