Giving Our Angel Wings to Fly...: An Angel in our Midst...

An Angel in our Midst...

ORIGINALLY Posted by CRAP Mamma

When we commence our parenting journey we hope and strive for the very best for our children. We want them to be the best they can be. We dream about what they might become, who they might become, what they will accomplish in their lifetime. For Meagan, her hopes and her dreams for her daughter Molly faltered when her little girl was diagnosed with Angelman Syndrome just after her first birthday. Following this, Meagan’s dreams for her daughter became more simple, more basic, more grounded and all along the way she has had to fight to ensure that little Molly will achieve all of them.

This is a raw and honest depiction of life with a beautiful special needs child. Driven to the depths of depression and despair then salvaged through self-determination, friendship and self-belief, Meagan tells her story of her fight to give her daughter a voice and to find her place in this world.

This is Meagan’s story of her beautiful daughter Molly……

Molly

Who is Molly?

Molly is the youngest of our two daughters; a tenacious, inquisitive and beautiful child, she’s just celebrated her fourth birthday. Just after her first birthday Molly was diagnosed with Angelman Syndrome. It rocked our world.

The Tough Road to Diagnosis

When we were on our way for our 6 month immunisations we stopped at the local supermarket. Molly was in the trolley baby capsule and we passed another mum with her little boy. He looked about Molly’s age and he was sitting and feeding himself a rusk. With our first daughter we religiously checked her progress in developmental books; with Molly we thought we were old hats! I couldn’t believe we had missed this!

When we compared her to the standard milestone checklist at her 6 month immunisations it really hit home that Molly was behind. So began an exhausting six month process of tests and assessments, paediatricians and specialists to determine the cause of Molly’s developmental delays. I had done a fair bit of Internet research and based on a few of her symptoms and behaviours I found Angelman Syndrome and discussed this with her specialists. It took four separate ‘discussions’ over a four month period to finally have the test done. My suspicions were confirmed.

Significantly today marks three years to the day since Molly has been diagnosed. It's a day of mixed emotions....

When the whole process of diagnosis began I developed severe depression which affected the way professionals regarded me – given the circumstances of course I was depressed but I still hadn’t lost sight of the fact that I needed to find answers for my daughter. I needed them to listen to me and to treat me with respect. Ironically Dr Harry Angelman, who discovered the syndrome, has often been heard telling his students “Your greatest ally is an observant mother – listen to her”. That’s some good advice.

What is Angelman Syndrome?

Always quick with a smile...

Affecting between 1 in 15,000 and 1 in 20,000 children Angelman Syndrome is caused by one ineffective gene (ube3a). In Molly’s case she is missing a piece of DNA so small from Chromosome 15 that you can only see it through a high-powered microscope. The loss of that single gene means that she has a movement and balance disorder that affects her ability to learn to walk, although we hope that she will walk within the next few years with the assistance of therapy. Molly will never speak and she has severe seizures which can be difficult to control. When she was younger she had problems with reflux and gaining weight so she had a gastric feeding tube put in her tummy which has only just been removed recently. One positive of this horrible syndrome is that Molly has a very happy disposition, she is very social and an absolute joy to be around.

The Guilt

I felt horrible when we started the path to diagnosis, and still did for some time after. I felt a terrible sense of guilt, like something I had done during my pregnancy had caused this. I’ve since discovered this isn’t true and 99% of the time AS is a random that doesn’t run in families. Regardless I re-lived things that had happened in my pregnancy trying to assign blame; I also blamed myself for not seeing the developmental delays earlier.

Ultimately I had almost come to the unthinkable decision that my family would be better without Molly and me! Thankfully I confided in a friend and developed the strength, combined with anti- depressants to work my way through it.

For me, the best support was talking about it. It was so hard to talk to a lot of people close to me as they didn’t understand what I was going through but again – looking back, they wanted to help and didn’t know how. My GP was great (with me), he could see the signs that I was depressed and referred me to a therapist. Personally I found talking with others more beneficial than the therapist, there are online chat groups where you can remain anonymous and ask others questions. However there is a fine line between looking for answers online for all hours of the night and retaining some semblance of sanity.

After diagnosis, even with the knowledge that the condition is random and could happen to anyone, I wasted many an hour blaming myself – what if I hadn’t fallen pregnant that month? What if it had been another egg? What if? What if? What if?

I don’t believe that special people are given special children, or necessarily that things even happen for a reason; I tend to think that it’s just another of life’s dynamics. However what Ido know is that I would never give Molly back.

A Day in the Life of Us

When you asked this question my initial thought was –just like everyone else’s day - busy, crazy…

Its only when I don’t have the kids around, or I see other families that I realise that life with Molly is almost like caring for a baby – a 15kg, 1m tall baby! I need to get her out of bed, take her to the toilet, feed her, bathe her, carry her and supervise her 24/7.

As for therapies - they are tedious. It is invasive to have someone else tell you how to teach your child things that should come naturally – but it’s also extremely necessary. Molly has speech, physio and occupational therapy. When we have time we try to fit in hydro therapy and we would eventually like to start horseback therapy as well. Therapies are what will help Molly reach her full potential. Unfortunately essential therapies like these are something a special needs mum often has to fight for with lack of resources across the board in Australia – just another job to do!

The impact of Angelman’s on Family Life

Like most families we are very, very time poor. We are often tired with Molly’s sleeping habits (some nights she might be awake for hours at a time and then still wake bright as a button!). Strangely enough – this is life as we know it.

We go about our day to day activities without giving too much thought to Angelman’s. Sometimes the fact that Molly has a severe disability is only highlighted by seeing the ease another young child learns new tasks (although I would never begrudge another mum bragging rights, and I never show my pain outwardly). Sometimes, her disability is made obvious to me by an ignorant stranger staring at her if she is communicating to me by making a loud noise, or telling me she is too big to be in a pram.

Sisterly love - Molly and her older sister Eva

One positive we have learned as a family is that we no longer sweat the little things. We have learned to be very appreciative of what we dohave, and not put too much worry into what we don’t. In the early days of diagnosis I worried for Molly’s older sister Eva. Eva started Prep this year and I am so proud of her, she is patient, understanding and an extremely compassionate little girl. Something that living with Molly and Angelman Syndrome has definitely taught her.

A Cure for Angelman Syndrome

At the moment there is not cure for Angelman’s. But (and I’m very aware that when I say this that some people look at me with pity; that I have false hope) I sincerely believe that we willhave a cure for Angelman Syndrome in Molly’s lifetime – and sooner rather than later. When I say a ‘cure’, I mean something to reverse the effects of the syndrome.

Research has only really started heating up in the last 10 years. We understand the syndrome and we know what causes it (there are a lot of conditions such as Autism where the cause is still unknown) and that’s really positive. There is an animal model that replicates the condition (enabling us to test scenarios and drugs) and the animal model has been cured. The scientific interest in Angelman Syndrome has risen tenfold in the last few years which is another indication that the finish line is near.

Unfortunately the main roadblock is money. Research isn’t cheap. Regardless, I look forward to the day that I hear my little girl tell me that she loves me.

Fighting for a Voice

When researching for our diagnosis as well as after Molly was diagnosed we noticed a huge void in information and support for families. We also found that a researcher in the US had “cured” Angelman Syndrome in mice and there was no research happening in Australia at all.

I set up a website called ‘Molly’s Voice’ and attempted to ‘talk through’ my wish list. I guess initially I was just putting it ‘out there’ into the abyss that is the World Wide Web. I also found it extremely therapeutic. Some goals that we set were to raise awareness in Australia as well as to promote research into AS. Another fundamental goal was to build a support network for Molly and to raise the profile of Rare Diseases.

Remarkably we now have a National Foundation, Foundation for Angelman Syndrome Therapeutics (FAST) Australia which is dedicated to raising funds for research into the syndrome in Australia. I also now sit on the board of FAST in the United States. We now also have an active Queensland support group and since starting this journey we have held three annual awareness walks in Cairns for Rare Disease Day and I have recently returned from Perth where people from across Australia met with the mission to form a National body to advocate for those with Rare conditions. Molly’s website has had over twenty five thousand hits and we receive and give support across the globe for the daily challenges of AS.

Advice to Other Parents

Don’t give up! You know your child better than anyone else. If you are not getting the answers you require, just ask and ask again. If you still aren’t getting anywhere, go to someone else and ask them. Don’t be too proud to medicate for depression, you have every right to be depressed but there is no shame in having a ‘crutch’ to help you through be it therapy, medication, whatever. My best advice is probably the hardest to take when you are actually in the situation and it is often only seen in hindsight, however it is this - things willget better.

For me, I’m stronger now that any mum should need to be. I’ve learned some tough lessons about life and people. I have learned to advocate and to stand up for the things I believe in, but most of all I have learned that love doesn’t need words.