How did we get here

14 Sep

I thought I should probably do a bit of a recap on how this all came to be, how we went from having a perfectly healthy child to the seizures, the loss of speech, the unsteadiness and all the rest.

Tilda was born on the 10th September, 2006 perfectly healthy in every way. She weighed 7 lbs 7 ounces, had not a skerrick of hair on her head and was a normal, happy baby.

All went along swimmingly. She sat on her own at 5 months, crawled at 9 months, started talking at about 12 months, walked at 15 months, didn’t sleep through the night until 16 months and was doing all the things one would expect.

Just after her 2nd birthday, we moved up to Darwin. Why not? There was an opportunity for Simon to work up there and it seemed like it would be a wonderful adventure. And it was, for the most part. At Matilda’s 2 year old checkup in September 08, she was pronounced fit as a fiddle! Even ahead in her speech and language.

But somewhere during her 2nd year, her speech began to slow down. Not enough to cause major concern but enough to feel that something was up. I scheduled a developmental checkup on her 3rd birthday and then, one week before that, on the 3rd September, we had the very first tonic clonic seizure by the side of a pool. It was the scariest thing I have ever experienced.  When I think of that afternoon, I can’t help but cry. After taking her to hospital, the seizure was categorised as a febrile convulsion, a one off that would probably never happen again.

Shaken but not stirred, we went on with our lives.We got married down in Melbourne on the 20th September, we went on holiday/ had our honeymoon for three weeks in Thailand, Vietnam and Singapore.

All was well and Tilda was in fine fettle. After returning from overseas in late October / November, I began noticing that Tilda was blanking out. Ever so briefly. If you blinked you would miss it but it was like she was absent for a second. Then towards the end of November and into December, she started falling. One minute, she would be standing and the next just collapsed on the ground. I have since read descriptions of this type of seizure that it is like they are a puppet and someone has cut the strings.

It was just before Christmas that we took her into Pediatrics at Darwin Hospital and after observing one of these drops, we were admitted overnight for further testing. A primary generalised form of epilepsy was confirmed and we started on Epilim.

As if all that weren’t enough for the poor monkey, on New Year’s Eve day, she fell off her chair at childcare and broke her collarbone. I will admit that I didn’t actually take her to the doctor for THREE DAYS because I didn’t think it was serious, it was only that she was obviously still in some discomfort that I took her to the GP who told us to immediately go to hospital for an x-ray.  Bad mother, bad mother.

I flew back down to Melbourne with Tilda in January for further testing and it was in our appointment with the pediatric neurologist on the 20th, that the diagnosis of Doose Syndrome, or Myoclonic Astatic Epilepsy was confirmed. This is a severe type of epilepsy which is resistant to medications and difficult to treat. We knew we were in for a battle. I went online and joined the incredibly lovely and supportive Doose Group who were and still are invaluable as sources of knowledge, a place to vent where someone understands.  We introduced new medications, took away ones that weren’t working, went up in dosage and down in dosage and nothing seemed to help. After another tonic clonic in October of 2010, we knew it was time to start the Ketogenic Diet. This extreme diet has proved incredibly successful for many Doose kids and we hoped that it would be as much for us. We spent a week at the Austin hospital introducing Matilda to the diet and getting her into ketosis. It was a truly terrible week. Matilda hated all the procedures, hated the Ketocal which was used to slowly introduce the state of ketosis and even had another tonic clonic on the first day. Slowly, she got better at eating the food and we got used to preparing it. When the week finished we went home but Matilda was still having lots of myoclonics and was very unsteady. It was decided that we would introduce another drug, Clobozam.

We had four incredibly glorious and wonderful seizure free days. Our only ones ever as it turns out. But slowly and steadily, the seizures crept back along with this new symptom of general shakiness. We persevered with the diet for three months, hoping that there would some sign of improvement even just a small one. But after three months, as the seizures seemed to be getting worse, it was decided that the diet was not working for us and we weaned her off it.

She very happily went back to eating carbohydrates and her seizures remained the same. Our neurologist told us that she wanted to do some further testing and in April, Matilda had another MRI, further blood tests and a skin biopsy. We weren’t given too much information as to what the testing was for – better not to know I think was the idea. I had, however done a bit of googling and knew that what we were testing for wasn’t good.

In a very unfortunate and rather mean twist of fate, our neurologist phoned me late May to tell me the wonderful news that Matilda did NOT have the terrible, terrible condition that she had been tested for. We had an amazing week where we believed this and I think this is why the 2nd of June blow was especially difficult to hear. Unfortunately, our neurologist was mistaken. On the 2nd June, she got the test results in front of us at that appointment and learned at the same time as we did that Matilda did indeed have a terrible, terrible condition and it was Batten disease.

We have come pretty far since that day and are in a world of day to day living and not too much thinking about past and future. We have been told how strong we are and how amazed people are that we can hold it together as well as we do. I tell you now, that the only reason we are able to hold it together so well and cope is because Matilda at the moment is happy. Happy and cheery and still Matilda. But I know what this disease can do. I don’t know how we will be if and when Matilda begins to decline. And I absolutely don’t know how we will be when we lose her. It is then more than ever that I will rely on the amazing friends and family that we are so lucky to have. I hope we can still be strong but it will be by far the hardest part of this, that began with a seizure by the side of a pool.


13 Responses to “How did we get here”

  1. Kylie September 14, 2011 at 1:43 pm #

    Phew it’s been a long hard road. I only wish I was around to help at that first scary poolside experience. Day to day living is good, can’t see any other way at the moment. Bloody Batten’s.

  2. Danielle x September 14, 2011 at 1:45 pm #

    Is that really Tilda on the scales when she was born?! She looks massive!!! 🙂
    Lots of tears after reading today’s blog darl. What an emotional rollercoaster hey! But as one of your amazing friends (even if I do say so myself), I am certainly on this ride with you. The high’s are great (hearing Matilda’s beautiful laugh!) & even though the low’s are f*cked & scary, I am there.
    LOVE YOU! x

  3. Pete September 14, 2011 at 2:27 pm #

    Sitting here at work amongst all these big burly firefighters with tears in my eyes…

    • teamtilda September 14, 2011 at 3:51 pm #

      I feel the same some times amongst my work colleagues… Reg

  4. Adam and cheryl September 14, 2011 at 11:29 pm #

    Hey guys, the shanghai contingent of teamtilda checking in. Chez and I have been keeping up with your updates, and it is hard to be so far away and feel so useless. Maybe we would be useless being near by too, who knows?
    Keep your heads high guys, you have done a wonderful effort! I wish we could have been there to help celebrate her birthday too.
    But we will see you again real soon, and know that although it is 8000 k’s technically between us all, know we are really beside you all the way
    Heaps of love rads and chezzie

    • teamtilda September 22, 2011 at 1:17 pm #

      Thanks guys! We can feel your love and support from here and thank you enormously for it. Can’t wait to see you. oxxoxo

  5. Cally September 15, 2011 at 9:54 am #

    An amazing story, thank you, such a gorgeous Tilda. Love Cally

  6. jackie September 15, 2011 at 10:56 am #

    Again thanks so much for sharing your beautiful story. You guys and Tilda are an inspiration. Thoughts are with Dylans family, so sad and so unfair! Lots of love xx

    • teamtilda September 22, 2011 at 1:19 pm #

      Hey Jackie,

      Thank you so much for your continual support and kind words. We really appreciate it. Let us definitely try and catch up with you one of these days! xoxo

  7. Diane September 15, 2011 at 3:22 pm #

    Dear dear Laura. I promise I will go back and reread in detail, as I think writing it up is a really good idea for you and for us. But I found it very difficult to read without tears welling up. As you’ve said; ‘each day, every day, a bonus’. Days like Matilda’s birthday at Healesville that bring a smile at her smile. Just want to send more hugs and positive thoughts to you, Simon and of course Matilda.

  8. ann seddon September 15, 2011 at 5:05 pm #

    Darling Laura I have sent a little letter to Margie for you which I’m sure she will send you
    You are truly amazing and inspiring to us with your darling little Matilda
    Please send your address if you have a moment
    We are about to head off to Italy and I would like to write to her
    All our fondest love
    Ann and Chris

  9. Maria Munro September 20, 2011 at 10:04 am #

    As a grandmother I am absolutely heartbroken for you all. My prayers are with you.


  1. Feeling the love | teamtilda - March 26, 2013

    […] a parcel arrived from America.  I have mentioned previously, that when we believed that Matilda had Doose Syndrome, I went online and joined a Doose support […]

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