The selection process (part 1)

We now have a beautiful little puppy settling into life with us, but choosing that puppy was serious business. And it wasn’t a choice we made lightly. Or quickly.

Shortly after the puppies were born, I found the dog trainer we decided to use on our DIY assistance dog journey. I’d spoken with several trainers and they all claimed that they could help us. However, this guy actually had the experience and reputation to back it up. He could tell us exactly how he’d approach the job and what we would need to do.

We met with him one evening and he brought Woody, a labradoodle he is training to be an assistance dog for another little girl. He wanted to see how Lil Z interacted with a dog. I was a bit nervous (especially since it was nearly Z’s bedtime, so there was a risk of it all going wrong). But in the end, Woody flopped down on her feet and they both fell asleep.

The trainer had fairly clear views about selection. He said that it was impossible to know which puppy would be the best assistance dog. A lot of puppies are selected for guide dog and assistance dog training every year and are later rejected for all sorts of reasons that simply aren’t apparent when they are babies. So, we were not going to look for the dog with the most potential, but the dog who would bond best with Lil Z.

This, however, may not be as easy as it sounds. Lil Z is not a child that a puppy would naturally gravitate towards. She can’t run and frolic with a puppy or throw a ball or stick. She can’t even pat a puppy without assistance. And she makes unpredictable jerky movements with her arms and legs that cans startle you if you’re not expecting it. And she coughs – a lot. And swings her arms – hitting anything within reach. And kicks her legs – kicking anything within reach (and if she finds something with her feet, she loves to keep on kicking it). In fact, the only thing going for Lil Z in a puppy’s mind is that she smells interesting – nappy, feeding tube, dribble, vomit and a bit of Nutrini formula are a fascinating fragrance to a dog.

So, I was skeptical that there was going to be much bonding, but off we went, with the trainer, to see the breeder and the puppies, who were 6 weeks old by then. We all gathered in a small, enclosed area outside and the breeder let out the eight puppies. Vegemite was in heaven. She was swarmed by the cutest puppies you could imagine. The trainer was watching them all intently, in order to pick out the most dominant or most submissive of the litter, who wouldn’t make prime candidates. Even the skeptical QB was in puppy love.

Lil Z sat on my lap and we waited quietly to see who would pay attention to us. Only the puppies’ mother came to say hello. I was worried. What if NONE of them acknowledged Lil Z?

But eventually they came. Some just had a sniff and wandered off. Others hung around a bit more. Lil Z coughed several times and scared off several of the curious puppies.

During an earlier conversation with the trainer, we had suggested that we were leaning towards a boy (although we wanted the best one for Lil Z, regardless of gender). Why a boy? Well, the trainer believes they are easier to housetrain (the breeder disagreed) and QB wasn’t enthusiastic about having yet another female around the house (feeling outnumbered with 4 of us already). So, the trainer put all the girls back in their crate and we just mingled with the four boys, who were distinguished by the colour of their collars.

Two of them – green and purple – didn’t pay any attention to Lil Z. However, light and dark blue hung around, came back for a second and third look at her, and generally showed a bit of interest. In fact, light blue was so interested in all of us that when all his brothers and sisters fell asleep, he was still awake and interacting with us.

By the end of the night, the field had narrowed to the two blue boys. We decided to return the following week to see if they were both still interested in Lil Z and to make a final decision.

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When it all goes wrong

There is so very much to write about lately. Ideas whizz through my mind constantly, but I haven’t written any of them down. I think that our experiences over the past few weeks are acting as a block to everything else in my mind. So, if you’ll excuse a boring old medical update, I think I need to bring you up to speed on what has happened with Lil Z before I go on about everything else.

Not that long ago, everything was looking rosy. Our long-awaited and much-anticipated puppy, Ben, was finally old enough to bring home. And despite being overwhelmed by his new surroundings, he still showed an interest in (and a willingness to snuggle with) Lil Z. And Ben slept through the night without crying (or weeing on his bed). I woke up that Friday feeling optimistic.

When I stepped out of the shower, I heard Lil Z screaming. It wasn’t her usual ‘I’m sick of being in bed’ grumble, but an awful, pain-filled shriek. Wrapped in a towel, I ran into her room and found her screaming while having a seizure. I called QB and we tried to calm her, but with no success. She was totally non-responsive, her body was stiff and she was shrieking in pain. We tried giving her Midazolam – her ‘rescue med’ for seizures. She was still not responding to us and screaming. So, I called an ambulance. And fortunately before they arrived I also pulled on some clothes.

The paramedics took her out to the ambulance and gave her another dose of Midaz.  The ICU paramedics arrived as well. After about 5 minutes the Midaz calmed her a bit, so they took us to the hospital.

Its been awhile since we were taken into ‘resus’ instead of just the standard emergency room cubicle, but that’s where we went. She was on oxygen (Midaz can affect breathing) and they put a cannula in her arm (always a terrible process because she has bad veins). By this point Lil Z was pretty much out of it. They eventually decided she was breathing fine on her own and moved us from resus to a cubicle until they could find us a place on the ward.

When Lil Z woke up, she was miserable. She was fussy and kept crying like she was uncomfortable. She was also holding her legs in a strange way and very stiff. I pointed it out to one of the doctors and they had a look at her, but attributed it to the seizure.

Up on the ward, we saw the Neurologist and I mentioned Lil Z’s legs again. She examined her closely and couldn’t find any localised pain. But she was concerned about the fact Lil Z was still so out of it – and very rigid – 12 hours after the seizure. She was concerned that Lil Z might have suffered a brain hemorrhage or stroke. She didn’t think it was likely, but just the mention of it scared me…

So, that night Lil Z had a head CT, which allowed them (thankfully) to rule out a brain bleed or major stroke. On Saturday morning, Lil Z seemed a bit better. The doctors had discovered that she had a urinary tract infection (UTI) which was likely the cause of the Friday morning seizure. She was started on IV antibiotics and I was told that we were likely to be able to go home on Sunday.

QB and Vegemite came to visit on Saturday evening. When they left, QB noticed that Lil Z’s breathing was a bit shallow. I kept an eye on her and it didn’t seem to improve. Also, her legs – which had been relaxed during the day – were suddenly rigid and “postured” again. I called a nurse and she put the pulse oximeter on Lil Z. She was in the low 80s (normal range is 95-100). The nurse put an oxygen mask on Lil Z to boost her sats, but it didn’t work. Her sats kept dropping, falling from the 80s to the low 70s. She was still conscious and fighting me to get the oxygen mask off. I was getting worried. I remembered that Vegemite had given me a kiss to give to Lil Z and I had forgotten, so I quickly gave her a kiss from her sister. It suddenly felt important.

When her sats didn’t improve with oxygen, the nurse called the on-call doctor. He didn’t seem terribly concerned. Then another doctor appeared. And then the tension started rising in the room. They decided to call a ‘code blue’ on her (a hospital emergency code meaning a patient requires immediate resuscitation), and within a minute there were 15 doctors and nurses in the room. I was in the corner of the room, terrified.

The doctor in charge was actually the same doctor who had looked after Lil Z in ‘resus’ in the emergency room. We’ve met him before – he even remembered Lil Z – and I like and trust him, so it was a bit of a relief to see him come in and take over.

She had just been put on CPAP when she had a big seizure. It took two doses of Midaz and Phenytoin to stop the seizure. She was very, very close to being intubated – the equipment was out, the sedatives drawn up, and the doctors had assigned the roles for doing it. Fortunately, her sats responded to the CPAP and they held off.

QB arrived shortly before they took her to PICU. Gradually overnight she was weaned off CPAP and then oxygen and by morning she was breathing on her own again. She suffered several minor seizures, but she was doing well enough to be moved back to the ward.

I was still worried about her legs – which weren’t right – and the Neuro team said they suspected that it might be dystonia. This upset me since dystonia is painful and difficult to treat, and would be yet another obstacle to her development – and enjoyment of life.

Asleep... again

Asleep… again

The Neuro team also decided that it would be best to give her another medication to prevent any further breakthrough seizures while she was still vulnerable from the UTI. She was put on Clonazepam, which made her extremely sleepy. As a result, she spent most of Sunday and Monday asleep.

On Monday, our au pair came to visit and to give me a little break. During her visit, she massaged and stretched Lil Z’s legs – and noticed that one knee was swollen. We raised it with the doctor and she had an X-ray the next day. It showed she had a fractured femur.

I was stunned. When did it happen? On Friday with the very first seizure? But how did so many doctors miss it so many times? And if it happened on Friday, why did it not swell until Monday? But how could it have happened on Sunday or Monday when Lil Z spent most of her time sleeping? It just didn’t make any sense.

The next day they did more X-rays and concluded that Lil Z has fragile bones. This may be caused by the fact that she has been on anti-epileptic drugs since she was 7 months old. Or it could be a symptom of her genetic syndrome. Or both. But the conclusion was that it wouldn’t have taken much to cause a fracture in her femur.

A purple cast this time

A purple cast this time

By this point Lil Z had finished her course of IV antibiotics and was starting to be a bit more like herself (although still very sleepy). Her leg was put in a cast and at last – at long, long last – we were given the green light to go home. Just in time, too, since we’d acquired some very noisy and annoying roommates.

And so, we are home at last, and trying to settle into life that includes Lil Z in a cast from her hip to her toes (at least it isn’t a hip spica this time). But I think we are all a little bit shaken by the experience. Lil Z has been doing so well lately, that I think we forgot how quickly things can go wrong. Or how serious it can get.

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Just because I know it, doesn’t mean I want to…

she is in the room I can’t really describe how it felt when Lil Z was first diagnosed, at around 6 months old, with global developmental delay. We’d known there was something “wrong” for a while, but everyone told us not to compare Lil Z with Vegemite, who had hit all her milestones ahead of schedule. Babies develop at their own speed, true enough, but a parent’s instincts are usually right. And although neither of us really put a voice to our instincts, they were telling us that something was wrong. She wasn’t smiling much. She wasn’t making eye contact much. She was struggling to hold her head up. And she was miserable so much of the time – she would cry for hours on end and nothing would comfort her.

Still, I was thinking that her development was just a bit delayed – something that perhaps a bit of physio would sort out. So when the paediatrician starting throwing out phrases like “global delay” and “cerebral palsy” I was stunned. I hated that paediatrician, and even now hold a grudge against him for a lot of things, but one thing he said hurt horribly at the time, but was the right thing to say. He told us that we needed to come to terms with the fact that Lil Z was going to be developmentally delayed throughout her life, and that she was not going to grow out of it.

It was the right thing to say, because once we started to tell people about the diagnosis, there were lots of well-meaning suggestions that she would grow out of it. But she hasn’t. And she won’t.

Shortly after that diagnosis at 6 months, Lil Z had her first brain MRI. I will never forget our visit to the paediatrician to learn the results. Lil Z was miserable and was screaming before we even entered the room. I was cuddling her, rocking her, desperately trying to get her to stop crying so I could hear what the doctor was saying. But as usual with Lil Z at that age, nothing worked and she continued to scream. I could only hear bits of what the doctor was telling QB, misunderstood what he was saying, and started to panic when I thought he was saying she had a degenerative brain condition. Hysteria was rising in me, Lil Z was screaming – even 2 1/2 years later, I can remember exactly how terrifying that felt. The doctor clarified that her condition wasn’t degenerative, but I struggled to understand what he was saying was the problem. QB asked to see the report and the doctor refused, saying “you wouldn’t understand it”.  In the end, I left, not sure what the MRI had shown or what it meant. I went home and Googled “myelination” and “white matter” (I didn’t even know the brain had white, as well as grey, matter).

Life took over at that point, with Lil Z beginning to have seizures, we had a number of trips to the hospital, and became connected up with the Royal Children’s Hospital, where we found a paediatrician we much preferred to that first one. Very little attention was paid to the MRI results and I eventually more or less forgot about them. Life took over.

During that next two years, I felt like I came to terms with being the mother of a special needs child. I’ve adapted my hopes and expectations, both for Lil Z and for my own life. I’ve had frank, and sometimes heartbreaking, conversations with Vegemite about why her sister is different and will never be able to play with her like her friends’ sisters do. QB and I have taken separate holidays. I’ve discovered that exercise isn’t just to keep me from getting fat – it is also about keeping me sane and strong enough to lift a growing girl who can’t sit, stand or walk independently. I’ve started blogging – and at least part of the reason for that is to show that although life is different from how I thought it would be, different doesn’t mean bad.

I love Lil Z with all my heart and soul. I’ve read several times lately about people declaring that disabled children are a punishment from God, and I’ve wondered, quite sincerely, who these people think is being punished. I don’t see Lil Z as a punishment – she’s a constant joy in my life. Because of her, I’ve met some of the most fantastic people on the planet, I’ve been amazed at the support and kindness from friends. I look at life and people differently, judge less and try to enjoy more. (it doesn’t always work, but I do try).

Still, it sometimes seems like a huge responsibility to have a daughter as severely disabled as Lil Z. I may no longer feel like I’m 16, but nor do I feel old enough or wise enough to make the decisions I have to make on a regular basis.

QB and I joke about how driving a big van with a wheelchair lift in the back is in my future (I hate driving big cars). I check out wheelchair brands and contemplate how best to remodel the house to make it more accessible. I have an equipment wish list a mile long and regularly consider turning the guest bedroom into a sensory room.  But in my heart, I still have that flicker of hope. It is no longer that she will grow out of it, but that she’ll conquer it. She will sit. She will stand. She will walk. She will communicate. She may not do any of these things without a bit of help, or perhaps some clever equipment or technology. But she will do them, I tell myself.

This belief is what motivates me. It is what makes me take Lil Z to hydrotherapy, horseriding for the disabled, private physiotherapy, playgroup, and a combined speech and physiotherapy. (OK, the au pair takes Lil Z to more therapies than I do, but I found them and pay for them). And it is what had motivated QB and me to find an au pair who has the skills and background to do physiotherapy with Lil Z every day. There is a great deal of effort (and money) invested in helping Lil Z to work towards her mobility goals.

And one of the greatest accomplishments with Lil Z has been the fact that she now interacts more. She looks at you when you enter a room – not just glancing at you out of the corner of her eye, like she used to, but actually turning her head and giving you a good once over look. She signs “more” when she wants to bounce. She gives cuddles. And the girl will definitely let you know what she wants.

So, when we had to get an official report on Lil Z’s development, I was irritated to see that it recorded her intellectual age as “around 6 months”. I know that cognitively she isn’t at the same level as other 3 year olds, but 6 months is not giving her much credit and not really acknowledging her achievements. And I think again, deep in my heart, I see Lil Z as being an aware and understanding little girl, trapped in a body that won’t cooperate with her. And this is in line with atypical Rett Syndrome.

This is why it was hard to get the results of her latest brain MRI. Fortunately, this time Lil Z wasn’t screaming and our beloved paediatrician was happy to take the time to explain the results to me and discuss what they mean. And at the end of the day, the MRI isn’t that different from the one she had at 6 months. She has immature myelination and reduced white matter – which effectively means that message take longer to get to and from her brain. But her brain is also not as large as it should be. I’m not entirely sure what this means on a practical level, apart from the fact that she’s most likely intellectually delayed.

Now, you see, I KNOW all this. And the MRI was good because there is no sign that her condition is degenerative – her brain is just growing slower than it should. So, the results weren’t a surprise. But still. It doesn’t mean I want to hear it.

And I’m now surprised with how I feel about the results. In short, I feel heartbroken. It has made me wonder if all the progress that I think I’ve seen over the past year is really progress, or just me wanting to see progress. It makes me wonder if it is really worth it to spend all the time and effort on therapies when perhaps they won’t make any real difference. It makes me doubt that she will really be ever to walk, talk or communicate. And it makes me worry that 30 years from now, she will still be at the same level – happiest rolling on the floor and watching Sofia the First, scratching her ears when she encounters something she doesn’t like…

Of course this is all rubbish. I know that. No one knows what Lil Z will be like in 5 years, let alone 30. And after 3 years of being involved in the special needs community, I also know that we will be grateful and lucky if she is here in 30 years time – whatever her cognative ability.

And as her doctor explained, the MRI only shows what her brain looks like, not what she can and can’t do, or why it looks the way it does.

And real or imagined progress, she’s in there. She intentionally hits her sister to get attention. She prefers Peppa Pig to Handy Manny (then again, who doesn’t?). She enjoys being in the water, will do anything to get a cuddle, hasn’t made up her mind about horseriding, and loves animals.

At the end of the day, we just have to wait and find out. And assuming she can’t or won’t do something based on an imagine of her brain is to fail to encourage her to live her life to its fullest potential.

I just have to keep reminding myself of that.

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A little ray of sunshine

I try to be a positive person. Truly, I do. In fact, if anything I think that Lil Z has made me more positive, because she helps me realise that life is too short and too busy to get wound up over others’ ridiculous actions. QB thinks I’m the ultimate pessimist, but then he’s the lucky person that I unload all the negativity and worries onto when it starts to feel too much.

But, as hard as I try, there just hasn’t been much to feel positive about this week. My week resembled the weather – grey and rainy and a bit dark. I won’t bore you with my troubles – most of them are just worries bubbling away in the back of my mind anyway. But it would have been nice to have a bit more sunshine and light. Nothing major – I don’t expect us to win the lottery or for Lil Z to suddenly begin walking and talking – but just a little something to let me know that I’m not totally out of luck.

Which is why I was so pleased to get some good news when it finally arrived. Lil Z’s puppy has been born! After a lot of conversations and research, we selected a goldendoodle (poodle – golden retriever cross) breeder and have been on her waiting list for a puppy since January. The breeder and our dog trainer (who we found after a lot more conversations and research) are going to work together to choose the puppy with the best temperament and personality for the job. So, for now, we don’t even know if our puppy will be a boy or a girl. Nevertheless, there is a puppy out there, only a few days old at the moment, but who will carry the weight of huge expectations to broaden Lil Z’s world.

It was a little ray of sunshine in a week otherwise filled with rain clouds.

There are great expectations for one of these puppies…

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Taking a break from the search for a diagnosis

Friday, 25 April is Undiagnosed Children’s Day

What, I can hear you say, does Undiagnosed Children’s Day have to do with you? After all, Lil Z has atypical Rett Syndrome, right? It says it on the top of your blog after all…

But, the truth is that atypical Retts is what Lil Z’s paediatrician and I have chosen to call it. We didn’t do choose the title randomly, she does tick nearly every box when it comes to Rett Syndrome or its “atypical” cousin CDKL5. But the genetic tests for both (and everything else) have come back negative. This doesn’t necessarily mean she doesn’t have it, just that it’s not showing up on her genetic tests at the moment. And that means that she doesn’t have an official, final, 100% for certain diagnosis.

A lot of people find this hard to grasp. Surely in this day and age, with all the brilliant things scientists are doing with chromosomes, it should be quite simple to figure it out? Just give them a blood sample and they’ll have the answer the next day! Ah, if only it worked like that. In reality, there is still so much we don’t know. And even what we do know can be extremely difficult to uncover if you don’t know where to look.

And, I must confess, we’ve actually taken a break from looking. We will return to the search for a diagnosis at some point in the future, but for the moment, we’ve chosen to focus on helping Lil Z to develop new skills and enjoy life, rather than going through more tests and genetics appointments. Searching for a diagnosis can be exhausting, and keep you focused on the negative rather than the positive. So for now, we’ve chosen to enjoy our little girl and not let a specific syndrome or diagnosis define her.

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