About Matilda

Matilda was born healthy. She had her first seizure 1 week before her 3rd birthday and was diagnosed with Batten Disease on the 2nd June, 2011. Our darling girl contracted pneumonia in mid-November 2013 and 2 weeks later, on Saturday, 30th November, passed away peacefully at home, with Simon and I by her side. She was only seven years old.

We miss her every minute of every day.

Our Tilda was a happy soul. She loved to laugh. Batten Disease took so much but right up until she died,  she remained the most tenacious and determined person I have ever met. She loved Dora, Maisy, Charlie and Lola, swimming, pretending to be dropped by her dad, silly noises, Letterland, going to her wonderful school and being around people.

She was delicious.

The journey to the Batten diagnosis

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 2008, 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.

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.

The Batten Journey

Batten Disease is brutal and her journey was rough. In the 2 and a half year from diagnosis, she slowly lost the ability to walk and talk. She endured many seizures. She had a feeding tube inserted. Her Tildaness remained, however and her spirit shone through.

She loved and was loved.

 

4 Responses to “About Matilda”

  1. Emma Dodd October 1, 2012 at 9:02 am #

    Hi Laura, I think I have been under a rock, I have just found and joined the teamtilda updates, I am so sorry that I had no idea what you were all going through. I have enjoyed looking through all the beautiful photos of Tilda, she sure is a cutie! I have been reminded today how precious life is, Tilda’s beautiful smile can light up any cloudy day. Please let me know how I can help in any way. Sending you lots and lots of love. Emma

    • teamtilda October 17, 2012 at 8:11 pm #

      Hi Emma! Thanks for your message and kind words about Tilda. She is a definite lesson in how precious life can be. And how resilient one can be in the face of such difficulties – her smile means the world to us! How are you and your lovely family? Sending much love back and hope to stay in touch.

      xoxoxoxoxxo Laura

  2. Debra Fairfield August 15, 2013 at 11:27 am #

    Hi Laura! Your folks had a meal with mine in Singapore and your dad was kind enough to send a link to your blog for us to follow. The photos of Tilda are absolutely gorgeous and all of you have really touched me with your bravery and strength. We weren’t that much older than Tilda when we were paying around in Homg Kong and again when you moved to Singapore. We will keep precious Tilda and all of your in our prayers. I live in Chicago now with my husband and kids but we send all our love and best wishes across the miles. God bless and much love. Debra

  3. Serin Hancock November 20, 2013 at 6:24 pm #

    Hi guys,
    I used to be Tilly teacher when she was at Sentia. I was devasted when I found out that she has Batten Disease… I know when she was in our room we all thought at that time that it was silent epilepsy.

    Tilly touched me in a very special way because of her uniqueness, sense of humour and yes- stubbornness at times!!! Lol

    I wish you guys all the best but I also always remember her as a fighter…

    Much love,
    Serin
    Xxxooxxx

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