Special Needs Spotlight || Frankie

My name is Sarah and I live in Brisbane, Australia with my partner Jonathan and our two kids, Frankie (4) and Evie (11). Jonathan and I have spent the last 22 years together. Looking back, work, travel and living overseas all kind of happened without too much drama. I was working as a nurse in Melbourne when I fell pregnant with Evie, and we decided to move back to Brisbane to be closer to our families. It was not until we had Frankie four years ago that our life took an unexpected turn, and the rabbit-hole, roller-coaster business began.

Frankie was diagnosed with Angelman Syndrome (AS) which is a neuro-genetic disorder that causes physical and intellectual disability, when he was 12 months old. A year later, when we were just coming to terms with his AS diagnosis and our new Special Needs life, he acquired a severe brain injury from a seizure. The brain injury affected his vision, mobility and ability to swallow. So he is pretty much fully dependent on us to do everything for him now, being tube fed and immobile. Since recovering from the acute after-effects of the brain injury and returning home from hospital he has remained quite stable and seizure free. Although physically he has not made many improvements, he has managed to adapt to his deficits and new reality in the best way possible. Frankie is pretty much all sweetness these days, and it doesn’t take much to keep him happy and relaxed. He is a zen master, and we love being around him.

Miggy: Hi Sarah and welcome. Thank you so much for being here today and sharing your beautiful family with us. First, can you take me back to when you first found out something was “wrong” with Frankie? Was it before birth, shortly after or sometime after that? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?

Sarah: When Frankie was born we didn’t think there was anything wrong, he looked perfect. Even the Obstetrician commented when he first arrived on “what a fine specimen” he was. He did have trouble feeding and was very unsettled, with amazingly long periods of uncontrolled crying. We had him checked out and were told that neurologically he was OK. But by the time he was 6 months old we knew that there was something wrong. He had quite significant developmental delay and it was his physiotherapist who first suggested that Frankie might display some of the characteristics of Angelman Syndrome.

He was 12 months old when his Pediatrician carried out the genetic testing for AS and left a message on my voicemail telling me the news of the diagnosis. I was sitting in my car when I first listened to it. Although I’m pretty sure that using voicemail to break bad news is not recommended, I think he actually did me a favour. It hit me pretty hard that day, as I had already researched AS on the Internet and had absorbed enough grim facts to think our lives were over. I remember feeling completely devastated and picking Jonathan up from work and telling him, bawling. There was a real sense of grief at the loss of the life that we had imagined for him. There was a lot of guilt too. The intellectual disability was probably the hardest element for me. I didn’t know what that would mean for him, or how we would relate to each other as a family. All the unknowns were pretty scary.

I don’t think we had much time to be sad though, there was too much to do and Evie needed us to keep it together. We adjusted because we didn’t have much choice and life went on, and we didn’t come apart at the seams. Evie was being a trooper and friends and family kept us going. Then Frankie sustained his brain injury and it all got even harder. Despite everything life went on though, friends and family stepped in again. We had an amazing amount of support.

If you’d told me when Frankie was first diagnosed what was in store for us, I wouldn’t have known what to think. Back then I doubt I would have been able to imagine us having a meaningful life with Frankie, as he is now. It would have sounded too depressing. There are definitely things that we have given up, and that we can’t do now. It’s not easy and emotionally it can be quite painful. I know there is no happy ending or cure awaiting us, and logistically as he gets bigger it is only going to get harder to include him in our lives the way we want to. I would have focused on these hard things back then because I wouldn’t have known about the positive effect that Frankie was going to have on us, and the way that we would feel about him.

One of my main fears when we first got his diagnosis was that we wouldn’t have a life, or at least the life we wanted. Involving holidays and all the things that you take for granted that will make you happy. I think I was more fixated on wanting, or expecting things to make me happy then. Frankie has made me appreciate what we do have in a way that I realize I never did before. It’s more about the people and relationships now. Everything is harder and usually involves a team effort, there are more logistics involved, but we still do stuff and it kind of makes it better when we get there. We even travelled to Canada recently, which felt pretty great. I haven’t let my wanting of holidays go yet.

Miggy: Please educate us on Frankie’s diagnosis and how it affects his and your family’s day-to-day life?

Sarah: Angelman Syndrome (AS) is a neuro-genetic disorder that causes severe physical and intellectual disability, occurring in around 1 in 15,000 people. In most cases, it isn’t inherited and the genetic anomaly responsible occurs by chance around conception. It results from the loss of function of the UBE3A gene in the brain. The loss of the enzyme that is produced by this UBE3A gene prevents neurons from functioning correctly, leading to major deficits in learning and memory. Angels, as they’re often called, have problems with movement and balance, and develop little or no speech. Around 85% will develop a seizure disorder and most have severe sleep disturbance. They do tend to be quite social and have a happy disposition, which was evident from the beginning with Frankie.

We’re told he was very unlucky to sustain a brain injury from a seizure. He has cortical vision impairment, so his vision is limited but we are still hoping that this will improve over time. He is a bit of a sack of potatoes. He can’t sit up, or roll and doesn’t have head or neck control. He can move his legs but finds it hard to use his arms, or to hold on to things. He can’t swallow food safely as his swallow has been affected, so he is fed via a PEG tube and requires seizure medication. We do everything for him, reposition him and try to keep him comfortable, keep up with his various therapies. He wears AFOs and uses a standing frame, and we try to get him in his pool as much as possible as he appears to love the freedom of movement it gives him. We try to provide him with structure, involving the same people in a weekly routine which helps him to know what’s going on. We get him outside for walks and rides in his bike trailer with family as much as possible, and we have some wonderful carers who help out too.

Thankfully Frankie’s personality has remained intact. I think it would have been a different story for us if he had lost that. He is a good listener. He listens intently to what’s going on around him and seems to recognize familiar sounds, and people he knows by their voices. There are no words, but he vocalizes and communicates with us in his own subtle way. We try to keep him engaged and interacting with us, and involved in what’s going on. So he tends to get wheeled wherever the action is in and around the house, particularly where there are kids. He is the king of appreciation and he never complains, but is definitely happiest when close to you, and being held. Like the rest of us Frankie has distinct moods, but is very sweet and polite. I’m pretty sure he has a fake cough, that he uses occasionally to get our attention. He recently started going to a Special School for the vision impaired one day a week, which he seems to enjoy. So he is a pretty busy kid.

Miggy: What are the biggest worries you face for Frankie? What are your hopes and dreams for him?

Sarah: There is a fair bit to worry about. His health in general and inability to manage his own saliva, particularly when he gets even a minor illness, is an ongoing concern. But I think it’s his absolute vulnerability, and the sense of responsibility that comes with that for us as his parents, that is probably my most constant worry. We need to trust people and we want him to be cared for and valued by many different people. So the control freak in me has found that hard to get my head around, but I’m getting there, and we are fortunate to have some pretty special people in our lives. The future is kind of scary and worrying about it feels like a bit of a rabbit-hole, so I try not to go there.

I try not to think too much about the long term and think relatively short term. There are so many uncertainties. Its not always possible, but I try to focus on addressing the issues at hand and there’s enough of them to keep me occupied. The only certainty for us is what’s going on at this moment.

I think my idea of a good life for Frankie would involve love, relationships, being comfortable and having his needs met by the best possible people, who actually understand and care about him. We want him to be known, and so try to involve as many good and willing people as possible. I recently even started using Instagram to document the little things @frankdidlee. I hope taking photographs, as well as writing about Frankie occasionally at www.lets-be-frank.com, will allow me to provide family and friends, and anyone who is interested really, with an insight into what life is like for him. Being on social media puts him on people’s radar too, and it’s also a bit of a fun way for me to connect with people and keep up with people I don’t see regularly.

Miggy: How can people–close friends and family, and strangers–best approach or respond to your Frankie? Is there something you wish other people knew so as to avoid awkward or hurtful situations?

Sarah: We understand that people can feel awkward or not know how to react to Frankie. Because he can’t necessarily see you he’s not going to communicate in the expected way. He can’t look and process visual information at the same time, so may look away. Most of the time touch and hearing are his dominant senses which allow him to work out what’s happening around him. I spend a fair bit of time letting people know how best to interact with him because they’re unsure of how to approach him. He carries a little book which lets people know a little about him and we have made up some basic tactile signs which we use. Kids seem happy to grab it and have a go which is sweet, and I love it when people take the time to sit with him and make their own observations about him. If they get him then it’s even better.

I like questions, even if they’re from friendly strangers because it shows that they want to understand. The hardest is when people ignore him or pretend he’s not there and that can come from people you know well, which is hurtful. That, and people’s pity. Pity is the worst. Staring is also pretty annoying, kids are excused but I have fantasized about head-butting the odd rude adult.

Miggy: Ha! Haven’t we all. 😉 I know from firsthand experience what a special role siblings can play in your special needs journey. Is there anything you’d like to share about your daughter and her relationship to Frankie?

Sarah: Like in any sibling relationship there are pros and cons, but Evie seems pretty happy to have Frankie as her brother. She loves him and has always been his biggest advocate. She checks him over when she gets home and we get in trouble if he has a mosquito bite or any visible signs of neglect. She’s very affectionate with him and he loves it when she’s around. He does take up a lot of our time and energy but we try to make sure she has our attention too, and there are benefits. She’s a bit of a seagull, when he’s given presents she’s on hand being extra helpful.

Evie has shown a lot of resilience and we’re very proud of her. She made this video ‘The Best Brother’ not long after Frankie got home from an almost 3 month stay in hospital, she was nine at the time. We were feeling pretty overwhelmed and she kind of set the tone. She can be a lot of fun, and brings the neighbourhood to Frankie. I think it helps us all to connect with her wider school community and our neighbours too, they have been wonderful.

I do worry how Frankie’s disability might impact on her down the track, but it’s a big unknown and another rabbit-hole. So far so good though, we hope that her exposure to Frankie and other people in the special needs community will give her a unique perspective, and an empathy and that will serve her well in life. Fingers crossed anyway.

Miggy: What is the biggest lesson you’ve learned since becoming Frankie’s mom?

Sarah: I think the biggest lesson for me has been around the importance of acceptance. Accepting Frankie the way he is now, and not spending all my energy wanting things to be different. There is so much that I have no control over, particularly other people’s attitudes toward disability and Frankie. Accepting this reality for what it is, and Frankie for what he is (awesome) allows me to relax enough to actually be present, and enjoy the time I spend with him. It definitely helps that Jonathan and I are on the same page. Jonathan has always been really good at accepting and loving Frankie just the way he is and I feel grateful for that.