Going purple

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OK, I’ll admit it. I’m procrastinating. I have 30+  purple ribbons to cut and pin for Vegemite’s talk tomorrow, and haven’t yet got the motivation to get started.

Why is Vegemite taking purple ribbons to school tomorrow? Because 26 March is Purple Day – the international day for epilepsy awareness. And Vegemite understands the impact that epilepsy can have and, I’m proud to say, is committed to raising awareness. Last year she took Gracie, her epilepsy awareness bear (thank you Epilepsy Action Australia!), to class to talk about epilepsy.

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This year, she has put a huge effort into her presentation – writing out what she wants to say, providing a number of illustrations, and practicing her talk endlessly on both QB and me. The ribbons will be given to everyone in her class at the end of the talk – along with purple balloons that her teacher is providing – as a reminder of the importance of Purple Day.

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IMG_5605_1024And it is important. According to the Epilepsy Foundation, around 65 million people worldwide have epilepsy. And around one-third of those with epilepsy have uncontrolled seizures, where no current medication or treatment works to prevent their seizures. Epilepsy can be fatal, with SUDEP (sudden unexpected death in epilepsy) and status epilepticus (prolonged seizures) the most common causes. Raising awareness of epilepsy can secure better funding for research, improve care and treatment, and remove the stigma of epilepsy.

Lil Z has uncontrolled seizures. She is currently on three anti-epileptic medications: Epilim, Keppra and Topamax. She’s previously been on Tegratol and Trileptal as well. All seizure medications come with a raft of side-effects, ranging from drowsiness, nausea and weight gain or loss to liver failure, hearing or vision loss and kidney stones. It can also affect a person’s behaviour, causing anxiety, aggression or lack of concentration. Anti-epileptic medication is not something you go into lightly – it is often choosing the lesser of two evils.

When Lil Z is going through a ‘good patch’ her seizures can be controlled for up to a month at a time. However, when she hits a growth spurt or is unwell (like now), she will have seizures nearly every day. Her seizures are totally unpredictable – she has them at all times of the day and without warning – although she often gets upset and anxious shortly before the seizure occurs and most (but not all) of her seizures coincide with her waking or falling asleep.

Her ‘usual seizure’ lasts for around 2-3 minutes and involves her going extremely rigid – both arms are extended out in front of her while her left leg bends up to her chest and her right leg extends. Her head turns sharply to the left and her eyes are fixed. She often vomits when coming out of a seizure and if her seizure goes for more than 5 minutes we have Midazolam, her ‘rescue med’, that often (but not always) stops the seizure.

Sleeping off Midaz after a seizure

Sleeping off Midaz after a seizure

Lil Z has had status epilepticus on a number of occasions, during which her seizures have lasted for over an hour and required strong drugs to stop the seizure. She has also had cluster seizures, where she has had repeated seizures for an hour or more.

As a big sister, Vegemite has seen more seizures than most people do in their lifetime. She knows what to do (make sure Lil Z is safe and roll her onto her side so she doesn’t choke on her vomit). She holds Lil Z’s hand and speaks softly to her while she’s seizing. And on a number of occasions, she has accompanied Lil Z and me to the hospital in the ambulance.

Vegemite's illustration of a brain having a seizure

Vegemite’s illustration of a brain having a seizure

So, Purple Day is important, not just for Lil Z, but for Vegemite as well. And I am very proud that she is willing to share her experiences with her class.

To learn more about Purple Day, epilepsy and how you can help, you can see:  www.purpleday.org or check out your local epilepsy organisation.

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Yes, but what do YOU think?

I ran across this video the other day and to be honest, I’m not sure what I think of it:

I get the point they’re trying to make and I agree… but I also know that imitating a child with special needs is a time-(dis)honoured way of making fun of them, of mocking them.

Vegemite imitates Lil Z all the time and it doesn’t bother me, because it’s her sister and she is simply doing it to copy her, not with any malice. In fact, I’ve noticed that Lil Z sometimes watches Vegemite with interest when she does it.

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But I don’t think I’d like it if someone else imitated Lil Z.

Maybe this is because I don’t think many people really understand Lil Z or her actions.

One time I was leaving Vegemite’s school when one of the other mothers said, “oh, look at Lil Z – I think she’s trying to get out of the stroller herself!” In fact, Lil Z was having a tonic seizure and I was heading double-quick time to the car to be able to deal with it.

Often, people are alarmed by Lil Z’s squeals and shrieks, worried that it is a sign she’s unhappy. On the contrary, that is what she does when she’s happy. Put on some Katy Perry and she’ll squeal along to the music.

Yesterday, Lil Z had a long seizure at school and had to be taken to the hospital by ambulance. I arrived at the school in time to climb in the ambulance with her. The paramedic repeatedly told me how she was glad I was there because she didn’t know Lil Z and couldn’t tell what was and wasn’t a seizure. It’s a fair point, since someone who isn’t familiar with her could take her jerky movements or periods of quiet reflection as seizures.

I know Lil Z better than anyone. I’ve been to more doctor’s appointments and therapy sessions than I can count. I have ridden in the back of an ambulance with her more times than I can remember. I can recite her medical history in my sleep. I carry a list of her meds and their dosage and strength in my purse. I am the link between Lil Z’s medical team, carers, school, therapists and family – the one who at least tries to make sure that everyone is on the same page.

And therefore, I expect Lil Z’s medical specialists to consult me. And they do. Which is great. Only once have I encountered a doctor who had no interest in Lil Z’s background or abilities, and simply told me what would be done. I’m very happy that we haven’t seen him again.

But sometimes, I feel that perhaps medical staff are relying too much on me. After all, I may be a specialist in Lil Z, but I’m not a specialist in gastroenterology or neurology or orthopaedic surgery. My knowledge on these subjects and more comes from a combination of Google, Facebook parent forums, and the occasional discussion with a doctor. I’m hoping most specialists we see have a bit more formal training than that…

Lil Z is going through a bad patch at the moment. Her reflux has worsened considerably. Her seizures have increased in frequency and duration. She wakes frequently during the night coughing, bringing up big globs of thick, foamy phlegm. She is sleepy during the day and some days she is so unsettled that she does little except cry.

I’ve tried everything to figure out what is wrong with no success. And I’ve asked multiple doctors and specialists, again with no success. Lil Z has had all sorts of tests run, but nothing has come back with even a clue about what might be wrong.

In the past month, we’ve been in the Emergency Department four times: twice for seizures, once for respiratory distress and once for general unwellness. We have also been admitted for 3 days (following the respiratory distress) in the past month. I am exhausted and at the end of my tether.

These trips to Emergency – along with her regular appointments with doctors and specialists – are focused on me as much as they are on Lil Z. Doctors question me not only on her medical history, but also how I think she’s responded to different drugs, the number of times she has vomited / seized / wheezed, and my general observations on her health. I worry constantly that I will forget details or not describe something properly and it will cause the doctor to miss an important clue about what is wrong with Lil Z. I know that if it was QB instead of me talking to the doctor, the conversation might be totally different. Not because QB and I disagree on Lil Z’s health, but that we notice different things and give different symptoms greater or lesser importance.

Our first trip to Emergency this month was because I believed there was something wrong with Lil Z (I actually expected they would find that her pneumonia had returned). They ran every test imaginable, none of which showed anything wrong. As the day wore on and I sat, cold and hungry, at the bedside of a little girl who after days of crying seemed content to sleep peacefully, and I questioned that anything was wrong. Maybe I’d imagined it. After all, the doctors couldn’t find anything and Lil Z seemed OK… By the time we’d had our last consult, I was riddled with self-doubt, exhausted and ready to go home. But really I wished that someone would tell me what I should do with Lil Z.

Yesterday at the hospital, the neurologist suggested that perhaps Lil Z wasn’t getting the full effect of her anti-seizure medication because she was vomiting the drugs back up. I told her that I’d had a discussion with her paediatrician about her reflux and vomiting. He suggested that the next step in the process would be surgical – either a fundoplication or a gastrojejunostomy (GJ) tube. The fundo is a procedure where they wrap her stomach around her esophagus to strengthen the lower esophageal sphincter in order to stop vomit and acid from coming back up as easily whereas the GJ is a feeding tube that is inserted into the small intestine, rather than the stomach, which again reduces the chance of her formula coming back up.

Both require surgery and while they could improve her quality of life, they will also add some restrictions. A fundo will make it highly unlikely Lil Z will ever return to eating orally whereas feeds need to be run continuously with a GJ, which means she’ll be constantly connected to a feed pump.

The doctor asked me what I thought and I said I wanted to wait until our next appointment to decide if we should go down that route. I hadn’t gotten my head around surgery, wanted to hear about others’ experience with the two procedures, and I wanted to give Lil Z a chance to recover from whatever infection or virus has been plaguing her to see if her reflux improved.

Now, a month on, I’m not sure I made the right choice. But I simply don’t know enough about it. How many vomits a day is “too many” and how many are in the category of “just live with it”? How long should she have a lingering cough before we decide she’s apirating? I’d like the specialists to tell me what to do, rather than asking me what I want to do. I know Lil Z, I don’t know gastro.

There was a similar experience last week when I took Lil Z to the Spinal Clinic. The doctor looked at the x-rays and said that the brace was correcting her curve, but that when she wasn’t in her brace, her curve was probably worsening. I was happy that the brace was working (I would have been very angry if I’d been strapping Lil Z into it for the past 6+ months for nothing). Then he asked what I thought about a spinal fusion. Confused, I said I thought the objective of the brace was to delay spinal surgery for as long as possible – at least until she stops growing. He said yes, but then commented that they would be relying on my feedback as to when we should start considering surgery. Huh? Surely as the specialists they are the ones who should determine when surgery is necessary. I know Lil Z, I don’t know ortho.

So, I get it. I know that Lil Z’s doctors are going to defer to me because I know her best. But that doesn’t mean they can’t make recommendations. I may know Lil Z’s medical history, but that doesn’t mean I know what is medically best for her.

And boy could I use some medical recommendations now. I am out of ideas, out of energy and living with the constant thrum of anxiety about Lil Z. I know her best. I know there is something not right. But I just don’t know what to do about it.

Setting the date

IMG_5510 2We are a family that live by the calendar. There may be only four of us… five counting the au pair… and well, six if you include Ben, who has his own share of schedule-able events… but we seem to spend our lives going in different directions. I’ve tried keeping track of all our appointments, lessons, sessions, classes and other responsibilities in a range of ways, but what works best for me is a good old-fashioned calendar. If it isn’t written on the calendar, then it doesn’t exist.

The calendar records all of Lil Z’s therapy sessions and medical appointments – there are a lot of them, all at varying times, so there is no way that I could remember them all any other way.

All her therapists book her sessions by the ‘term’ (which coincides pretty much with school terms). Before the term begins, the therapists have a chat with me about the best days and times for Lil Z’s appointments. Then, we receive a list of appointment dates and times. I can record them all on the calendar at once and we can schedule around them. It makes life easy.

If only medical appointments were that easy.

Apart from her GP, all of Lil Z’s doctors and specialists are based at the new Lady Cilento Children’s Hospital here in Brisbane. The new hospital isn’t nearly as convenient or as close for us as the old Royal Children’s Hospital, but as I know people who have to fly to Brisbane to see specialists at the hospital, I won’t complain about the extra 10-15 minutes it takes me to drive across the city…

I also won’t launch into a rant about all the things that are wrong with the new children’s hospital. It is new and they are still ‘de-snagging’ all the little problems, so it isn’t really fair to complain… yet.

However, I will complain about our appointments because at the moment, they dominate our lives. Last week we saw the paediatrician. This week we saw the dietician. Next week we see the Neurologist on Wednesday and the Orthopedic Spinal Clinic on Thursday.

There is no coordination between departments to try to get two appointments on the same day. And there is NO flexibility on the day or the time. If you can’t make your assigned appointment, then you go to the back of the list and usually have to wait another 3-4 months for a new date. This isn’t so bad for things such as Lil Z’s annual ophthalmology appointment, where they are just monitoring the health of her eyes, but it is a big deal for other appointments, where they will be following up on medical issues and adjusting medications.

So, hospital appointments take precedence over everything else, which is fine because they are important. But then the timing catches us out. Several of Lil Z’s recent appointments have been at 8.30am – the same time I’m meant to be dropping her big sister off at school. And, incidentally, the same time the roads between our house and the hospital are solidly packed for the morning rush hour. And next week, the Ortho appointment is at 3pm, which is when I’m meant to be picking Vegemite up from school. Not particularly convenient scheduling.

So, I have to pay to put Vegemite into before or after-school care on those days. Yes, I’m lucky enough to have an au pair, but we only have one car, so even an extra set of hands doesn’t help…

And while we’re talking about paying, lets talk about the cost of parking at the hospital. We had a relatively swift appointment with the dietician today and were only at the hospital for an hour. Parking cost $17. It is usually even higher than that because none of the others run on time, so we are always at the hospital for a minimum of two hours. According to my rough calculations, by the end of next week, I will have spent $350 so far this year, simply in dealing with the logistics of getting Lil Z to and from hospital appointments.

At the end of the day, none of this really matters because we want the best care possible for Lil Z, and if that inconveniences us, then it is a small price to pay. But at the same time, it can be hugely disruptive for our family. It means that Vegemite gets juggled around. It means I lose yet more time off work. I’m not sure I would be able to cope with missing so much if I wasn’t self-employed, but being self-employed means that if I’m at the hospital, I’m not working and therefore not getting paid. And it means we’re spending money on parking, out-of-hours school care, and taxis, which could be better spent on equipment and therapy for Lil Z.

It’s frustrating because it seems like there really should be a better way. I know that most of the people using the children’s hospital aren’t there as frequently as we are. I know that if everyone got a say in scheduling their appointment, it would be chaos. But surely there is a better way to make it easier for kids like Lil Z with complex medical needs. Surely that can be taken into consideration?

It would certainly make my life easier. And my calendar tidier.

 

 

 

Living a rare life

I love someone who is rareThe 28th of February is Rare Disease Day. So in the spirit of the day, I’m going to raise your awareness about what it is like living with a child with a rare disease.

In fact, Lil Z is so rare, she hasn’t even been diagnosed yet.

In some ways, it makes no difference that whatever chromosomal disorder Lil Z has is so unusual that we haven’t been able to identify it yet. Diagnosed or undiagnosed, rare or common, at the end of the day, it all comes down to Lil Z and not a label. A label wouldn’t change how we feel about her or what we want her to achieve. Nor would it change what her doctors and therapists do. I like that Lil Z is treated just as Lil Z without assumptions on what she should be doing or what will happen next.

That said, it means her life is completely unpredictable and unknown. No one has told us that she won’t walk or won’t talk or that her life will be limited, not because those things aren’t possible – they all are – but because no one knows. Forewarned is forearmed and we aren’t forearmed because no one can warn us of what is to come. Because whatever she is rare.

Even if we had a diagnosis, there is no guarantee that any of our doctors or therapists would know what that diagnosis means. We are into the realms of things so rare that there may only be a handful of children in Australia – or anywhere else in the world – diagnosed with the same condition.

So, we stick with our clinical diagnosis of atypical Rett Syndrome. Most medical professionals are aware of Rett Syndrome, and Lil Z exhibits all the primary symptoms – repetitive hand movement, reduced eye contact, mobility problems, non-verbal, breathing problems, slow head growth, swallowing difficulties, small hands and feet, teeth grinding, constipation, scoliosis, and abnormal sleep patterns, to name but a few – so it is a useful label to give a snapshot of Lil Z’s issues when we meet someone new.

And it gives me a community to cling to. Both the Rett community in Queensland and the CDKL5 community globally have been such a huge help with support and advice. Truly, Facebook is a godsend for those of us with rare children.

But outside the special needs and medical worlds, most people have never heard of Rett Syndrome or CDKL5. And this is another place where rare is difficult. People want to know about Lil Z and I still don’t have a set answer. Someone the other day asked in conversation if Lil Z had cerebral palsy – which is a respectable guess, really – and both QB and I nodded vaguely and mumbled “something like that”. A pathetic example of promoting public awareness, but sometimes you’d rather just make friendly small talk instead of educating the public on Lil Z’s possible diagnoses.

It’s interesting because before Lil Z was born, when the doctors were arguing over whether or not she had an enlarged ventricle in her brain, the doctors kept mentioning ‘soft markers’ and wouldn’t rule out Down Syndrome. DS was the ONLY disorder they ever mentioned to us. After she was born, it was clear that she didn’t have DS and everyone heaved a sigh of relief and declared her healthy. Once the obvious had been ruled out, no one thought that it could be something unusual, something rare.

Similarly, when we first got the devastating news that there was ‘something wrong’ with Lil Z, the paediatrican declared it was cerebral palsy – despite there being no evidence of any damage occurring to her brain during pregnancy, birth or up to that point. Again, it was choosing the common over the rare.

But Lil Z is proof – rare does happen.

The other day, Lil Z was sitting on my lap at the table while Vegemite had her dinner. Lil Z had been rolling on the floor earlier and somehow managed to dribble all over the shoulder of her t-shirt, which was soaking wet. Teasing her, I told her that she had “soggy shoulder syndrome”.

Vegemite looked up from her spaghetti with a ‘eureka’ type expression on her face. “Did you find out that’s what she has, Mummy? Does Z have soggy shoulder syndrome?”

Yes, we are rare indeed.

 

Time for “the talk” again

The days have passed in something of a blur since the girls started school in January. We’re slowly easing back into our school year routines and I even managed to do the double school drop off without anyone being late yesterday! But the one thing that I nearly forgot to do was have “the talk” with Vegemite’s teacher. So, I’ve scheduled a meeting and will do it after school this afternoon.

“The talk” is telling Vegemite’s teacher about Lil Z and explaining the impact it has on Vegemite – which could carry over into the classroom. During Vegemite’s first year at school, it didn’t even occur to me to have the talk… and by the time I realised I probably should have said something to her teacher, it was too far into the year, and I didn’t know how to introduce the subject. I’m sure her teacher noticed that Lil Z was “different” during school drop off and pick up, but she probably didn’t know how to raise the topic with me, either. So, it ended up as a bit of an elephant in the room.

Last year, I was determined that things would be different. So, I arranged a meeting with her teacher. It started off a bit awkwardly – mainly because all the eloquent and intelligent things I had intended to say flew out of my head the moment we sat down. But I stumbled through and managed to get my point across.

What I want Vegemite’s teachers to understand is that Lil Z changes things for Vegemite.

On a very basic level, Vegemite might be dealing with things that would alarm and terrify other kids her age, before she even gets to school in the morning. For example, last week we had barely turned the corner on our way to school when Lil Z started to have a seizure. I pulled the car over to the side of the road, but before I could even make it to Lil Z’s side of the car, Vegemite was out of her car seat and in full seizure-response mode – sick bag in one hand and holding her sister’s hand in the other. Z came out of the seizure just before the 5 minute mark (when we would have to give her emergency medication to stop it) but was very unhappy and immediately started crying and screaming. I continued the drive to school while Vegemite held her hand and watched for signs of more seizures. When we arrived, Z was still inconsolable, so I dropped Vegemite outside the school instead of walking her to her classroom. It occurred to me that it was a rotten way for a six-year-old to start her school day, but there was nothing I could do about it…

It also means that Vegemite is dealing with more worry and stress than most kids her age. It doesn’t happen as much as it used to, but her sister still gets taken away in an ambulance; she still gets admitted to the hospital (which means that not only Lil Z disappears, but I do as well). And as she gets older, Vegemite becomes more aware of the risks. When Lil Z had pneumonia earlier this year, Vegemite asked me if she was going to die. I told her no, and we discussed how children like Lil Z did sometimes die of pneumonia. The conversation ended with me promising to tell her if Lil Z ever became so ill she might die. Not the kind of promise that most parents make to their six-year-old. But I hoped that if she knew we would tell her, she wouldn’t have to worry as much every time her sister was sick.

I am also worried that Vegemite could be teased or bullied because of her sister. We chose to put her in a small school with an active parental community because   we hoped that once the other children and parents met Lil Z, she would simply become “Vegemite’s sister” and wouldn’t always attract stares and questions. Although it worked well last year, when Lil Z came along to drop her sister at school every morning, but as she gets older and mobility becomes a greater issue and now that Lil Z is attending her own school, she isn’t around Vegemite’s school as much as she used to be. And as she gets older, her disabilities become more apparent.

Last year, after my chat with Vegemite’s teacher, there was an “incident” in which a boy made fun of Lil Z in front of Vegemite. The teacher immediately intervened. When I asked Vegemite what he had said, she replied “he made fun of her hair”. I don’t know if this was really the case or not, but if it was, well, the kid might have a point. Lil Z has the craziest hair I’ve ever seen…  But it was good to know that her teacher was willing to step in straight away.

Letting Vegemite’s teacher know also opens up the door for Anya actually talking about her experiences as a sibling of a child with special needs with her peers.

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Gracie, the epilepsy awareness bear

Last year, she gave a presentation to her class on Epilepsy Awareness Day. I’m not sure it was terribly educational as such (there was a lot of focus on the fact Epilepsy Action Australia had given her and Lil Z teddy bears), but it was good experience for her.

It is important for children like Vegemite to be able to explain their sibling’s disabilities – in fact, it is recommended that you practice a response to the question “what’s wrong with your sister/brother” with them, so they are able to respond confidently. Vegemite explains most of her sister’s disabilities in terms of epilepsy – which is fine because Lil Z doesn’t have a conclusive diagnosis of anything else.

I also hope that by discussing Lil Z with her teacher, she can reinforce in class what I try to teach her at home: that she needs to treat Lil Z with respect, love her as she is, and to not be embarrassed by her. The first two are easy with Vegemite right now – she is a loving and caring sister, who only occasionally has bouts of sibling jealousy. But as she gets older, she does get embarrassed – especially over the fact that her sister is prone to vomit anywhere at any time. It’s tough – especially since it sometimes embarrasses me too…

So, I’ll go into the meeting with her new teacher this afternoon with these goals in mind. And hopefully, even if words fail me again, I’ll be able to explain what I want to achieve. These conversations are never easy for me – even more than three years into our special needs journey, I still find it hard to talk about Lil Z in a non-clinical way. I can talk endlessly to doctors and therapists – and obviously writing about her doesn’t bother me – but it is hard to go into a conversation like this completely “cold”. And I know it isn’t particularly easy to be on the receiving end either.

Still, I’m hopeful that this year is easier than last year. And perhaps by next year, I’ll have my speech memorized. Because I’ve got many more years of “the talk” to go…

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