The long and the short of it..
Frankie was diagnosed with Angelman Syndrome (AS) when he was 12 months old.
Up until then his first year had been a bit “mad”…so to speak. He had trouble feeding and was a very unsettled infant, with periods of uncontrolled crying that would last for hours on end. He did this for a few months and each time we had him checked out. We were concerned by the intensity of the episodes but were told neurologically he was ok, and that it was probably colic that would settle eventually.
So we pressed on, enjoying the cuteness/hard work for a few more months but by about 6 months we knew that there was something wrong. He had quite significant developmental delay. So we took on the quietly worried parent role, asking different paediatricians for opinions and seeing a physiotherapist regularly. It was this physiotherapist, Melissa, who suggested that we test Frankie for Angelman Syndrome. When his Paediatrician carried out the genetic testing it came back positive. So we quickly moved on from being the quietly worried to the shell-shocked ‘this can’t be happening to us parents’ who knew very little, other than it was a really crap diagnosis for our boy.
When we read about AS for the first time on the internet (as you do) it was pretty confronting, the facts came as a blow.
Message taken from wikipedia: Frankie would not talk, would have problems with balance and may not walk, will have seizures, and would not be able to live an independent life. You will never sleep through the night again, you will not return to work. It is going to be a hard life..
Although it took quite a while for it all to sink in, we were left feeling pretty devastated. We tried not to read too widely on AS ourselves after that, as we knew it would only fuel our sense of rising panic.
Although there are people with expertise in AS around, it is a rare condition, and they are a little thin on the ground. So we went about trying to find the most experienced health professionals for Frankie. It took us a while, but fortunately for us, living in Brisbane we were able to access them, and to get ourselves an AS education.
He was 19 months old when he had his first seizure, which only lasted a few minutes and resolved spontaneously. We were a bit freaked out, so took him to the hospital to get him checked out. He was OK, and we just watched him after that. Then, a couple of months later he had another seizure. This time it persisted and he ended up intubated in intensive care for a few days. He recovered pretty well from this though, and we were home a week later now on medication.
After that things settled back down and we were kept pretty busy, Frankie and I. With his physiotherapy, occupational therapy, playgroup and swimming at every opportunity. We were working on communication, and saw a speech pathologist who had introduced a communication system or PODD, but he had no words.
Frankie was super happy, still very delayed but progressing slowly. He was shakey in his movements, but could roll, sit independently and grab at things. He ate anything that he could get into his mouth – watermelon or broccoli, it didn’t matter it all went down Frankie’s hatch.
He was not sleeping a lot. AS is often accompanied by a sleep disorder and he only slept for a few hours at a time overnight, so we were all pretty sleep deprived. However, he kept up the charm offensive and we could never get cross with him.
We also had a lot of fun playing with him. Frankie loved to get amongst it, any way he could and you had to respect that. It was hard to get depressed about the situation or feel sorry for yourself, when, despite so many deficits and daily challenges, he was giving it such a go.
There is a lovely network of AS families out there, ready to provide support and information. So we went about meeting some other families living with AS, and were starting to get a bit more used to this whole business.
Although many Angels share similar traits and characteristics, we were to learn that all Angels are quite different and that the AS experience is wide and varied. The one thing that all these families did seem to share though, was a real passion for their kids. We didn’t get much time to get to know them, however, as things went a bit pear-shaped.
Not long after his second birthday Frankie had a prolonged seizure in his sleep. We found him in his bed and rushed him to hospital, but he had already sustained what turned out to be a severe brain injury. So we spent a couple of truly awful weeks in ICU, with him recovering from the acute after-affects of brain injury. It’s all a bit of a blur, but in an effort to control his ongoing seizure activity, as well as the distressing muscle spasm and symptoms he was placed on an ever increasing cocktail of medications.
The MRI showed a generalised brain injury and we were told we would just have to wait and see if, and how, he would recover and that he would have significant deficits. So the recovery process was long and slow, despite the best efforts of what felt like a cast of thousands, he was unresponsive and his painful symptoms persisted. This was a distressing and confronting time and there was a real sense of hopelessness around his lack of progress. He moved from ICU to the neurology ward, and then on to the rehabilitation ward.
Rehab was where he stayed for 7 weeks. With our family and freinds’ tag-team efforts (in order to provide Frankie with the constant cuddling options we felt he needed) we started to feel like we were part of the furniture. The staff were wonderful to us, and did everything they could to help Frankie but nothing seemed to work, and it just went on, and on.
It was not until he responded to a change in medication at around the 9 week mark, that he started to come good. He stopped spasming and became responsive pretty much overnight.
It’s hard to know, with Frankie’s unique AS brain being so hard to read, but many of the symptoms he experienced and his lack of progress could now be attributed to an underlying seizure activity, deep in his brain. Once that activity was finally under control he could start to recover from the brain injury. He improved slowly but steadily, and we were home 2 weeks later.
So that’s the dramatic part. We are hoping for smoother sailing with our Frankie now, and so far so good. He has kept it up and is sleeping overnight, and has had no further seizure activity in the 7 months since he came home.
In many ways Frankie is not the same – he has limited vision and mobility now, but we are still hoping that this will improve over time. He’s a bit of a sack of potatoes, he can’t sit up, or roll and doesn’t have much head or neck control. His legs are very busy, but he 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 in his tummy and requires a lot of medication.
In many other ways Frankie is still the same – his personality is thankfully intact, and he remains happy and relaxed most of the time. When he laughs he shrugs his shoulders now (because he can move them) which is adorable, and he loves to be cuddled and held. He knows what and who he likes, and what he doesn’t, but he’s never rude about it – he will close his eyes on you if he doesn’t want you in his face. He listens intently to what’s going on around him, and recognises people he knows by their flat-foot steps (Jonathan) or voices, and familiar sounds, like the chickens or the garbage truck. He is the king of appreciation and subtlety.
The future is a bit scary, if we start thinking about it. He’s getting bigger. But being with Frankie, now that he is comfortable and relaxed (and not going anywhere), is actually a very relaxing experience that we highly recommend. We love being around him.