From Diagnosis to Now

Zahlia was born on the 9th March 2013. As we counted her fingers & toes we breathed a sigh of relief as she looked perfect. At 11 weeks though she started having little jerking movements that we hoped was normal baby activity but over a period of a few days the movements progressed from small eye deviations, to pulling her arms up, to then her whole body jerking. Within 48 hours the movements progressively got worse so we took her to NambourHospital. By that evening she was having clusters of seizures lasting 20 minutes long. They did an ultrasound on Zahlia’s head and told us that her corpus callosum was missing (the middle part of the brain that communicates between both sides of the brain). That news was devastating enough but the news to follow was physically and emotionally crippling. We were transferred that evening to the Royal Children’s Hospital in Brisbane where they immediately hooked her up to an EEG & they told us she had abnormal brain pattern. Next she went under anesthetic to have a MRI where they discovered she had extensive brain abnormalities on both hemispheres. They keep insisting she have an invasive eye examination although we were puzzled as to their persistence. They finally convinced us that it was necessary and the results came back that she had lesions on her retina’s resulting in poor vision in both eyes. She was diagnosed with Aicardi Syndrome.

Zahlia spent the next few weeks in hospital on a high dose of steroids which made her agitated, unhappy and increased her blood pressure.  She’d scream for most part of the day although the steroids got her seizures under control.  It was heartbreaking to see her go through all this pain.  After coming home we slowly weaned her off the steroids and she began to seizure again.  We began to introduce the anticonvulsant Vigabatran (Sabril) although she still seizured.  We kept increasing the dose as recommended although soon she lost muscle tone which is a side effect and she could no longer feed.  The milk would pool at the back of her throat and she’d cough and splutter.  The risk of aspiration was too high so she had a nasal gastric tube put in and it would take up to one hour to gravity feed her one bottle. We needed to reduce the Sabril so she could regain her muscle tone and then introduced the drugs Epilium and Topamax which over the course of a few weeks resulted in Zahlia become floppy again, she stopped smiling, giggling, rolling, babbling and would no longer make eye contact with us.

We are at the stage of taking Zahlia off the Epilium and Topamax and are desperate to get her on the Ketogenic Diet.  The diet requires hospital admission although there is a long wait list. There is a 50% success rate on the diet so we’re pinning our hopes on it working for Zahlia. (updated 20/09/2013)

7 months old – Zahlia is now completely off the Topomax and Epilium.  She has smiled us at randomly over the last month although she isnt smiling as regularly as she used to.  She seems happy but just cant express it.  She has regained muscle tone and is definitely stronger than she was previously on the cocktail of medications.  If I lay her down for tummy time, she can lift her head although its difficult for her.  She is often frustrated and will just lay her head down.  She is sleeping a lot at the moment and Im not sure if its the Sabril or if she’s having a growth spurt.  She eating a lot better and not gagging on her food or milk.  She still has a chesty cough and most morning and nights, it can be difficult for her to breath. I’ve been giving her garlic in her milk to break up the mucus which hasn’t helped too much although I have noticed that she is seizuring less.  I googled ‘garlic seizures’ and results popped up indicating that garlic is an anti-spazmotic and can reduce brain inflamation which in turn can reduce seizure activity.  I’m continuing to add garlic to her milk everyday to see if it has a positive result regularly.   Initially her seizures significantly reduced although its increased again, so Im not sure if the garlic is making a long term difference.  We’re also trialing her on RCF (Soy based formula) to prepare her for the ketogenic diet as she has allergies to lactose.  She seems to be taking it well which is a massive relief.  Zahlia’s finally been accepted into Disability Services Queensland after three months of waiting.  Her first Physio appointment is next Wednesday which we’re really excited about.  We have also consigned a private practice to give Zahlia hydrotherapy which will also commence shortly.  It feels like after months and months of trying to get something in place for her, its all starting to fall into place. (updated 16/10/2013)

 

It’s now early July 2014 and all I can say is that this last 9 months has been a roller coaster. I have mixed emotions from frustration to complete exhaustion, moments of joy and moments of great sadness. To live the life of a mother with a disabled child is something I wouldn’t wish upon my worst enemy. You see them in the shopping centres and wondering on the street from time of time and never did I give these amazing parents a second thought let alone credit for working so endlessly to keep their children alive.  I’d never met any of these parents and if I’m honest I’d have to say I probably avoided them. Ignorance is bliss so they say.

As far as our beautiful Zahlia goes, she’s currently having loads of therapy and has been on the Ketogenic Diet since 25 November 2013.  Without a doubt, this has been the best treatment for her.  Anti seizure medication is not effective and I was desperate in my plee to make her a part of this treatment and it’s definitely paid off.  Seizure reduction has been somewhat incredible and although we are not seizure free, it’s a huge difference in comparison to watching her seizure on and off all day and night.  In conjunction with the Ketogenic Diet we give her a natural anti inflammatory capsule called Max GXL which saw her seizures reduce even further.  To any parents who have children seizing, I can’t urge you enough to try the Ketogenic Diet and Max  GXL. I truely believe it’s kept my daughter alive.

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6 thoughts on “From Diagnosis to Now

  1. Hi
    Just read your article in the Bully. I know there are very few babies diagnosed with Aicardi in the world but I do know one in Darwin. Madison is now 17. I am good friends with her mother Kylie. If you like I can put you in touch with her? All the best.
    Kristy

    • Hi Kristy

      Thanks for your message. I hope Madisson is doing really well. At this stage I won’t get I contact because there is too much sadness with this syndrome and don’t think I can emotionally cope with any more broken hearts.

      Thank you very much for contact me.

      Take care
      Sally

  2. Hi Sally
    One day you will find the strength. The invitation is open indefinitely and Kylie knows of the possibility of your contact. Madison walks, signs in her own way to communicate among other amazing things. Despite her original prognosis, she’s well and truly exceeded all expectation. Kylie would only offer you constructive offerings of help and support and let you know what has worked for her girl – not a bleeding heart! I was the support person at Madison’s birth along with 2 of Kylie’s other boys so I can stand by my word. Her number is 0413 075 335. Your call! I also have a 19 year old with special needs but still can not even begin to imagine what you are going through. Sending you loads of strength and positive thoughts.
    Kristy

  3. Great stuff Sally. Just give Kylie a month or so because she’s now currently with her father in NZ while he’s a palliative patient in last stages of cancer.

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