emma_in_dream

Very proud of Ruby today. She had her Griffiths Developmental Test which she aced despite being under the weather with a cold. She was a champ at everything other than making a bridge out of blocks. She did great threading, pattern copying, tower building, word descriptions, and her answers to the open ended questions were so interesting (and also different to the ones Pearl gave when she did it two years ago).

Q: What would you do if you were running late in a bus?
Pearl: Hurry.
Ruby: Walk. Or a baby could go in a pram. Or a car would be quicker.

Q: What would you do if you were lost?
Pearl: Ask God to help me.
Ruby: Call for help. Tell them to find my mum.

February has been a lovely month with (touch wood) no medical appointments.

Aside from one unscheduled trip to emergency to have a Barbie accessory removed from Ruby’s nose, we have not been to a doctor (touch wood).

It is amazing how easy life is like this. On the days when I am not at work we do not have to rush from appointment to appointment. Instead, we saunter about at a leisurely pace, enjoying dance classes for Ruby or doing a little light shopping. This is the life!

No wonder I have been a creative *hurricane* over the past month. Everything is so easy. Can this be life as other (most?) parents experience it?

Anyway, next month is already shaping up with the typical one medical thing per week profile, but I am hopeful that we may have restful months like this more often. Pearl now has virtually no appointments and surely, one day, Ruby will also have fewer.

I aimed to have grace this year. I had none.

Once again, the year began with a fairly serious illness, followed by a new disease, followed by major life style changes.

We continue to go from one medical appointment to the next. I know my way around the paediatric hospital. In December I lran out of energy for medical appointments. I really resented the last two and had to drag myself into Ruby's pre-Christmas EEG.

I did not join Yuletide this year because I was in such a state of sodden exhaustion in October and November that I simply could not face one more thing.

I am very glad it is now the holidays, because I really need them.

My resolution for next year is for grace again. And for some ability to plan ahead with the children rather than just running with the easiest course because we are so busy with medical nonsense that we have no time for anything else.

Of course, all this is contingent on no one in the family developing another bloody disease. Good health for all of us, that is what I would like in 2014 because I am really sick of spending my life doing nothing but medical stuff.

Deep breath. Grace.

x-linked hypophosphatemia.

Ruby broke my heart the other day, when she asked when the doctor would make her better from coeliac disease. I had not realised she had not grasped it was for life. She now has a picture book explaining a bit more about it. I may also have to revisit the story I tell her about the pink cat with the sore tummy who Noddy drives to the doctor.

Also, I noticed that Pearl is confused at the difference between NF1 and coeliac disease as she conflated muscle weakness and eating wheat. I won’t try to clarify it until I find out if the children also have (as the State geneticist suspects) x chromosome linked hypopotassemia. Seeing the geneticist was really interesting, and a bit like therapy in that I got to talk at length about my kids’ many health issues and how it was a bit of a rollercoaster when you never know what will be diagnosed next.

At the same time, I do feel a bit like we are MUTANTS. But without neat abilities like being able to juggle fire or read minds. Perhaps these things will kick in at puberty for the girls.

I am feeling increasingly anxious about the children which, I realise, is because I have not had any bad news about them for months. It’s been ages since Ruby was diagnosed with Coeliac’s disease and I have this terrible feeling the other shoe is about to drop.

This state of mind could rightly be called paranoid or over-parenting, but all my experience teaches me that every few months there is some kind of health crisis with children. It irrationally annoys me when people say that parents should just be chilled out because children basically just develop on their own. My own experience is that my children have been sick from literally the moment of Pearl’s birth, when she was whisked away to be worked on so she breathed. This was followed by nine days in the hospital while various health professionals trying to get her to feed and fed her through a nasal tube and my dawning realisation that there was something wrong long-term. (Turned out to be hypotonia).

After that I spent months going to various doctors and having them imply that I was an over-protective first time mother until, suddenly, when she was 14 months old, they turned around and agreed that yes, there was something wrong. They leapt straight to worst case scenarios which it turned out not to be. And indeed we’ve never had a satisfactory diagnosis for her real, ongoing hypotonia.

I find it very annoying when people say things like ‘well, they all learn to walk in their own time, don’t they?’ This may be *generally* true but, in my experience, no, they learn to walk after months of physiotherapy, while wearing foot supports and that hard-won ability can be undermined very easily, as when Ruby lost the ability to walk while prostrated by Coeliac’s disease. So Pearl got on her feet at 22 months and Ruby at 22 months, then became unsteady at 24 months, lost the ability, relearned at 28 months. This is not a trouble-free and inevitable trajectory.

Constant watchfulness combined with immediate intervention seems to be the only way to proceed, so right now I am trying to anticipate the next likely blow and also be calm. A state of cat-like wariness, like Marg Simpson’s, is what I must aim for.

Short version: everything is going so well!

Long version: The difference in Ruby is phenomenal. She has gone from being a pale, sick girl who only wanted to lie in my arms and who literally was too weak to walk, to being a bold, plump toddler in the space of a month.

All year I have known something was wrong. Even last year, actually. I could see she was increasingly reluctant to walk. I attributed this to her NF1 and I spent a long time getting her new orthotics and boots. The boots were particularly frustrating as they took 10 weeks to arrive. Though, having said that, there was a $300 discount on the $350 boots so there is some upside to being stuck with an inefficient universal health care system. All the while, Ruby was going backwards. Not developing, not even holding her own, but becoming less happy, less mobile and more clingy.

Then she started vomiting, which got worse and worse over the course of the month. By the end of the February she couldn’t walk and would only lie in my arms saying she felt wretched. I took her to the GP twice and the hospital twice. The second time she was down to 9.4 kilos (10.5 kilos being the bottom 3%) and still dropping. By this stage I was convinced it wasn’t a virus – I would have got it if it had been because she threw up on me virtually daily.

I thought it was a tumour so the relief when it wasn’t was enormous. They mentioned the possibility of coeliac disease but sent us off without any treatment plan. I decided to try removing gluten because I was desperate. I could see that within a week she would be in hospital on a drip because she could not go on as she was.

The results were almost instantaneous. She only threw up one more time after I began removing gluten, and her dire rear went after about three weeks. She ate like no child I have ever seen – with a desperation really – because she was making up for not having absorbed food for so long. She ate almost constantly while awake for the first two weeks, and has only begun to slow down now to the point where she can go, say, a half hour without eating. She has stacked weight on – is now heavier than she was at the beginning of February.

Also, she has begun to caper around in her new boots. She has had to relearn how to walk with straight legs instead of crooked ones, and she is doing a great job. She even dances now. We went to the park and she went on the play equipment instead of sitting on my lap and crying! I am so happy.

So far the gluten-free diet has been relatively easy but expensive. Hopefully it will get less so now that Swancon is over and I can concentrate on preparing food myself rather than buying pre-made treats.

Would it be nice if Ruby did not have two separate, fairly significant medical issues? Yes. But coeliac disease seems relatively easy to manage and the difference in her is so clear that the paediatrician decided there was no need for the bowel biopsy (with attendant general anaesthetic at her age). Between the high antibody results in her blood test and the massive improvement in her health on a gluten free diet, the paediatrician agreed to a tentative diagnosis without further testing at this time.

Every time I look at her I am just so incredibly happy to see her so healthy and happy in herself.

(Also Pearl is pleased that Ruby is well enough that there is finally some attention for her as well!)

So, lots of things happening.

1, Ruby saw a paediatrician at the children's hospital who said there was no need for the bowel biopsy. Since she is responding so well to a gluten free diet, we can just continue with that.

2, Ruby is doing much better and has put on 800 grams in the past two weeks.

3, Ruby's new orthotic boots finally arrived (ordered in early January). She is not so keen on them as they are 'tight'. I think she means by this that they are forcing her to walk in an entirely different way, with straight legs instead of using her hips. It's a big effort but I can already see improvement.

4, Ruby and Pearl are both sleeping very badly but I just don't think this is the time to introduce new rules for sleeping to go on top of the entirely new diet and relearning to walk for Ruby.

1, Ruby will be getting her expensive, imported, European boots in about a month. They had a pair that were not quite the right size in the shop which she tried on. She thought they were ‘tight’ and ‘boys shoes’ but was satisfied by a promise that I would decorate a pair with glittery paint. I have high hopes that lots of things will improve when she is more stable (she may sleep better if she does more exercise, may be able to toilet train if she is more stable).

2, For a nice change, both children slept well last night.

3, I bought a neat hole punch and I am amusing myself by making cards. If you would like to receive one, let me know.

We went to the neurologist yesterday and it was very good news. He thinks Ruby's troubles with walking were due to an inner ear infection. My mind (and my mum's) had of course gone straight to tumour on the spine so yes, yes, yes, what great news.

Also, 'usually' if a tumour was going to affect her vision it would already be visible.

She was measured (twice). Both measurements were well below the bottom line of average growth but the doctor agreed the best thing to do would be to wait until she is old enough to stand still so we can measure her accurately. At the moment she perceives this as a dreaded medical procedure and fights. Also, he projected her adult height, if she keeps going at this rate as 148cm which is certainly fine for an adult. Maybe a bit problematic in a boy, but fine for a girl. So, good news all round.

The situation at home continues to be rocky. This wretched cold has morphed into a hacking cough which keeps me awake all night, and, indeed, makes my chest ache. I have now got some extra strong cough suppressant which I really hope makes a difference.

I have been feeling like I am trapped in a never-ending cycle of exhaustion and sickness and crisis. I am really hoping that things turn the corner soon.

I have also done some thinking and I have realised that the reason that I have struggled so with the girls’ diagnosis is that it came in such a shocking way.

I got the diagnosis on a Thursday. On the Friday I rang back to ask whether he was sure they both were affected (he was). On the Saturday I got a call to go in to the hospital with Ruby that day, for tests to see if she had tumours on her spine. That was a worst case scenario, and, in retrospect, it primed me to think of NF1 in the worst possible way.

Also, the trip to the hospital was a nightmare. Ruby didn’t actually get the MRI at that point but she did get treated so roughly by a doctor there that she has developed a hatred of medical procedures which is unfortunate in a child who has to have so many of them. Pearl was dumped summarily at my parents’ house for three days and she became massively, massively insecure and clingy. For months afterwards she would freak out when, for instance, I fastened her seat belt and then walked around the car to get in. That five second journey away from her would be enough to make her start crying. She would lie in her bed calling out to me at five minute intervals ‘Are you in the lounge or the kitchen? Where are you?’. She is much better now.

But my basic point is – we leapt right in the deep end of NF1 so no wonder I have found it so depressing and overwhelming.

Currently her vitamin D level is 107 (normal 50+), iron 15 (normal 5-25), calcium 2.31 (normal 2.15-2.6), and haemoglobin 127 (normal 110-145).

When she was little I thought blood tests would be easier when she was old enough to understand why she has to have them. Now I still find it hard - I take her in and she tries desperately to explain why she is actually very healthy and the doctor doesn't need to check on her, then she sighs and says she will try to be brave.

She also did the Griffiths developmental test last week. Scored fine (low problem solving skills boosted by high verbal skills) but the test itself is a grueling marathon of pain.

Ruby on the other hand is going great guns, cruising about like a pro. The physio thinks it highly likely she will walk before she is two.

I do feel that we go from one medical appointment to another, but hopefully this will end eventually.

She is so in love with her shoes and inserts that she is currently wearing them in bed.

When they are not on, she picks them up and balances them on top of her feet to show me where they belong.

I'm not sure if she loves them because they are pretty or because it is easier for her to stand, but they are certainly a big hit.

Now that Pearl has completed nearly a term at kindy I want to reflect a little.

Things that I like:

· Pearl goes to kindy happily. She likes playing there.
· She seems to enjoy making things despite her weak muscles. Her art is noticeably less advanced than that of her peers in the areas of drawing and painting, but she is a champion at threading and cutting with scissors.
· She is getting slightly better at getting on with other people and does not rush up to the other children and shout ROAR in their faces any more.
· They have really nifty toys and craft materials.
· The teacher told me she thinks Pearl is bright and has a good vocabulary.

Things that I dislike:

· Unfortunately the kindy teacher had to have an eye operation in the second week of school. There was a temp, then the teacher came back, then she got an infection and there was a second temp, but now the proper teacher has returned. Having one consistent presence is much better and may have contributed to the rocky start to the year. What I can do about this: no need for action, the teacher is back on board.
· I am constantly being taken aside to have it explained that Pearl is less mature than the others, lacks the ability to concentrate, does not like standing in queues, spins around so her skirt flies up and gives the other kids violent hugs. I expected that she would be less mature than the others because she is 11 months younger than some. Also, she has no experience with group life as she was not in day care. What I did not expect is virtually every time they say this I ask what we can do about it and inquire what strategies they suggest and the teacher responds that she does not know. This is not helpful. What I can do about this: her actual, proper teacher does not do this. It was just the temps and the aides, so no need for action.
· Pearl sometimes does not want to go because she says she does not like standing in line. I understand this but it is a skill that will be of lifelong value (especially when using female toilets). The teacher came up with a way to deal with this on her own and now Pearl is put at the head of the queues. I virtually cried when the teacher told me this because I am so stressed about everything else that is going on health-wise and I feel that I keep getting asked to solve these kindy problems too, and I am happy to do what I can of course but I am not actually there during the day.
· I had not thought of Pearl as emotionally immature or as lacking an ability to concentrate. Indeed I would have said she had ferocious concentration when she arranges her toys and puts her treasures away. Now I am thinking that this is a NF1-related learning disorder and that’s just one more terribly worrying thing to deal with. What I can do about this: after Pearl has had her OT review and seen the paediatrician I will go to them with some concrete ideas about what the teacher can do.
· Nearly every time I go there I can hear the teacher calling her name. What I can do about this: I am sure she is being difficult for them, but I am also taking the precautionary step of buying her a uniform (even though it is non-compulsory) so she will be better able to blend in with the herd of other children. Perhaps she is just more visible than the others.
· I kind of thought the parents would get more day to day news. I thought they might want volunteers. What I can do about this: will find out when the teacher-parent night is.
· And unrelated to the previous points but of more generality, I do not like the way Pearl became obsessed with fathers and nuclear families as soon as she started school. I am sure this is not coming from the teacher or the aides, but I think it may be because sometimes fathers pick up some of the kids and because the dolls and jigsaws they have are all of white, heterosexual families. What I can do about this: mention it to the teacher and offer to buy a jigsaw with more diversity.

I got the MRI results today and the results were good, really the best I could hope for. There was no sign of a tumour on her optic nerve or her brain.

She has a small malformation of one bone in her skull which is apparently characteristic of NF1 and harmless.

The doctor was concerned that Ruby is short. He was quite worried about this, but I don’t think it is such a big issue. My family is full of short, bossy women and as far as I can see it has made no difference to the lives of anyone I know. He would like her to go to the growth clinic for injections of growth hormones at some point but I am very reluctant to do this. I will think it over but I would take a lot of convincing, I think.

He also pointed out that she would probably not be very good at sport, would be uncoordinated and have poor reflexes. I must have boggled because he added defensively that if a child had very sporty parents this could be a significant part of their social lives and self esteem.

Exactly what the future holds for Ruby I am not sure, as NF1 manifests in all kinds of ways along the whole course of a person’s life and it is impossible to know how it will turn out and what symptoms any individual will get. Right now, though, being free of tumours and malformations of the brain and spinal column is great and I am really relieved that the neurologist agreed that her ability to pick up language was much the most important thing, far more important than walking.

I really don’t know how much information is appropriate at this stage, mostly in a defensive move. On one hand, I don’t want to define Ruby in the eyes of casual acquaintances (‘Oh yes, the one with the genetic disease and the mother who bangs on about it’). On the other hand, I can already foresee that I am going to be very frustrated at Swancon because people, especially acquaintances, like to minimise bad things (‘They look perfectly healthy to me!’ ‘Clearly if the first scan for tumours was clear that is what will happen for the rest of her life and you have no need to worry!’ ‘No need to do so much intervening, my kids turned out fine without it!’ ‘Maybe you are over-reacting, after all the MRI was fine!’).

I know worrying about Swancon sounds ridiculous, but, seriously, people will say ‘So what have you been doing?’. And the answer involves a massive back story about my kids and their development and a genetic disorder they won’t have heard of which has a whole heap of ways it can manifest. Maybe the easiest thing to say is… hmmm what else have I been doing? Baking bread, rewatching *Highlander*, thinking about how to make an Emily the tank engine cake for Pearl as this is what she has requested for her birthday, decluttering, trying to figure out how to make an interactive children’s water sculpture on my wall, doing some art. Nothing very interesting; I always dread sounding like a SAHM Stepford mother, which of course is a dreadfully sexist thing to dread being. After all, there’s nothing wrong with doing traditionally female, home-centred activities. Anyway, I digress….

My feeling is that the MRI and neurological results were the most important things in the short term. The next level of importance for Ruby is getting her orthotics fitted so she can stand more easily. And for Pearl, the most important thing is lining up her MRI so we can check on her – after her next paediatrician’s appointment after the con. Once those really pressing things are sorted and I know that they are both not in imminent danger, we can start getting a more peaceful pattern back in our lives.

Week One - Physiotherapist (Ruby), Dentist (me), GP (Pearl).

Week Two - 3 days in hospital.

Week Three - Eye doctor (Pearl) - cancelled by the hospital, physiotherapist (Ruby), MRI (Ruby), OT review (Pearl) - cancelled by me because it clashed with the MRI.

Ruby had her MRI today, as an opening came up unexpectedly.

It was a pretty rough day for a little girl - no food, no water, no nap and then drugs that made her go to sleep. She looked really tiny on the great big stretcher with a little tiny gas mask over her face, poor wee thing.

Unfortunately they could not do the eye test at the same time so she has another general anaesthetic waiting for her down the line.

I was quite upset about the likely diagnosis of neurofibromatosis 1, but now I've had time to think it over it's not so bad.

The odds of getting all the associated conditions are really low, and almost all of them are treatable or manageable. Fingers crossed for not getting the visual impairment, but even that is manageable.

I was really frustrated that we spent three days at the hospital without getting the MRI but at least that shows the neurologist doesn't think it is a real emergency.

I am finding the constant round of medical appointments a bit wearing. Last week, three days in hospital. The week previous to that, the paediatrician, the dentist and the physiotherapist. Next week the eye doctor, the physiotherapist and the OT. I think it would be a lot easier to live a quiet, child-centred life with rhythm if we didn't have so much on.

For the benefit of the people I'll see soonish, I don't want to talk about the kids' health in front of them. Pearl is certainly old enough to understand and Ruby is, I think, getting the idea. I mentioned her legs the other day and she lifted her legs up.

Have lurched from emotion to emotion over the weekend. First got the tentative diagnosis and then was sent in to hospital as a matter of urgency on Saturday.

Except that it turned out that it wasn't an emergency. We were just there to fast track us into getting an MRI. Apparently there is a 5-6 month queue for MRIs for children as an outpatient and a few days once checked in.

Except that after waiting from Saturday til Monday at the hospital they decided that Ruby isn't getting the MRI after all, at least not for another 2 months. So we literally waited at the hospital for three days (taking up beds that could have been used by someone else) before being sent home still with no answers.

I'm taking away from this that there isn't any real urgency after all.

Ruby did have a blood test and I talked to a dietician about ways to get more fats into her diet and they tried and failed to get a urine sample. I will have to get one but not tomorrow because I have to go to work. Maybe Wednesday.

So, the range of emotions has covered terror, sorrow, irritation with the doctors, anger with the doctors (when one *stood on Ruby*), boredom, relief that my child looks so good in comparison with some of the really sick ones, worry and confusion.

Now I am going to bed.

Edited to add: Also, the emotions of anxiety about Pearl who is freaking out, sorrow when Ruby had procedures, happiness that at least she has a family to be with her unlike the poor 15 month old in the cot next to us. Basically every emotion.

Edited to add: Except maybe patriotism.

Lust.

Excitement.

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emma_in_dream

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Page generated Jun. 14th, 2025 12:20 am

Entries tagged with hypotonia

Griffiths Developmental Test

Life Update

Year in review

The syndrome they are looking for is....

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3 Things

One Very Good Thing

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Ruby and Shoes

Pearl and kindy

Very good news about Ruby

Last three weeks

It is best to get over rough ground as easily as possible

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December 2020

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