Neurology...

Yesterday Lyla had an appointment with her neurologist, Nick Smith, at the Women's and Children's Hospital.  It was a pretty standard appointment, he was really impressed with Lyla's growth and development and he was excited to see Lyla was so happy and smiley.

I mentioned some of my concerns regarding her breathing episodes and how they have started to reappear quite bad, often causing her to pass out afterwards (there was a period of time where she was having very few episodes, or if she did have one she wasn't struggling to catch her breath as much, therefore not going as blue).  He thought it could possibly be due to low iron levels, which if the case makes sense because around the same time they were not as severe I was giving her extra iron.  He suggested to test her iron levels and a few other bits and pieces with a blood test.  

Along with that I mentioned the tachycardia spells she has (rapid heartbeat) with an episode, and when she was in PICU after her gastrostomy surgery the heart rate monitor was reaching 250 BPM!  He referred us to cardiology again to have an ECG to check her heart out.  I was hoping he would.  He also referred us back to respiratory (happy about that too), the only time we saw respiratory was when Lyla was 7 weeks old and spent the week in PICU.  I always found that strange because she obviously has respiratory problems.  He will also recommend a swallow study to see where everything goes when she swallows.  This was something we have had booked a couple of times, but it was always cancelled.

So I'm really happy that we're re-seeing a couple more departments, this was we will also know if the scoliosis is damaging her heart and possibly contributing to these issues.

...

After the appointment I had a few other errands to do at the hospital; we went to the HENS department (home enteral nutrition service) they showed me how to change Lyla's Mic-Key button, so I changed it by myself and now I have a back up one so I can do it at home next time.  We picked up some medical supplies and paid a pile of outstanding invoices (whoops).  I also filled out paperwork to request a copy of all her medical notes (there's A LOT of them) and put in a request for a DVD of her spinal x-rays for our upcoming orthopaedic appointment in MELBOURNE - Feb 19th!!

 We're seeing Australia's #1 orthopaedic surgeon!

Jess

Operation Day...

Wednesday January 29th, Lyla was scheduled to have a spinal cast made (you may remember from previous post), along with the spinal cast she would also have a hip cast and botulinum toxin (botox) injections in her biceps. 

Now, the whole lead up to the casting was something I had to prepare myself for, it was a big deal; Lyla was going to be plaster cast 'jacket', as such, it wouldn't be able to come off, she wouldn't be able to have a bath or shower, she would have very limited movement, she would be heavier making it harder for me to carry her with my back issues, it would uncomfortable, it would be something that could possibly hurt her, she would be upset, she would be hot, and with her respiratory issues I was expecting lots of episodes.  As well as preparing myself for the procedure, I also had to prepare her therapies around the casting and botox, which was a hassle because she just received funding from NDIA for specific therapies with specific time frames, etc.  For this Lyla needed intensive occupational therapy sessions to make the most from the injections, cancelling hydro-therapy (water based physio) and transferring that section of funding towards extra 1 on 1 land based physio and adding travel so her therapists could resize home seating equipment, we would have to to order new standing equipment, remeasure and order sleep posture equipment and ordering a specialised bed for her.

Early December I emailed the orthopaedic surgeon with some questions I had regarding the procedure, as well as some questions her physio had.  I didn't hear anything from the surgeon, just a receptionist who told me he was on holidays.  Mid January the receptionist emailed me saying another doctor had read through Lyla's notes and my email and he said "casting was a no".  Obviously this was a shock, so I contacted the receptionist (after many confusing emails) and she told me, the hip casting was a no, but the spinal cast would still go ahead like planned.  A miscommunication on her behalf because 'she didn't understand'.  That was a relief.  

Tuesday, the day before the procedure, I received a call from the rehabilitation department asking if I would like to rebook Lyla's botox because the procedure had been cancelled.  I had no idea what was going on, so I was transferred to the orthopaedic department, where I was told by the receptionist that the procedure had been cancelled, and the surgeon was meant to call on Friday, but obviously hadn't.  

That was too much for me; the frustration, the mental preparation, the lack of communication; I had reached my breaking point .  After hours of calling asking for the surgeon to tell me what was going on, he finally called me back.  He said after reading my email, in which I asked what would happen incase of an emergency and she stopped breathing requiring CPR, he decided the cast would be unsafe for Lyla.  A completely understandable reason, but it made me think he has only JUST read my email, and the fact that I was only told, by another department, a day before it was scheduled was really discouraging.  If it wasn't for rehabilitation calling me, would we have just shown up to the hospital the following morning?

So the plan is another GA where a mould will be taken of Lyla's spine and a brace will be made for her.  The brace is removable, but not as effective as the cast, but if she tolerates the brace a cast can be tried, and then surgery down the track.

In the meantime I have contacted a lady who has worked with a orthopaedic surgeon in Sydney who specialises in infantile scoliosis.  I am hoping to hear from him and hopefully be able to arrange an appointment for a second opinion, I just want to know what we're doing is the best thing for Lyla, or if he thinks there is a better option.

Jess

Team Lyla

Back in September some of our friends decided to run in Adelaide's City To Bay Fun Run, but they decided to do it for a reason - Lyla.  They went on to create a Facebook Page dedicated to the event and Lyla, they registered a team, had t-shirts printed, held a fitness preparation group and spread the word in hopes to raise some awareness, as well as raise funds for Lyla's care.

September 12th came and we had a team of about 40 committed to tackle the 6km and 12km walk or run from Adelaide to Glenelg.  It was a great day, the weather, which looked very miserable in the morning, came through.  We set up a Team Lyla hub at the finish point where some of my family were waiting with a sausage sizzle, fruit and drinks.  We were even visited by South Australian's Premier - Jay Weatherill!

The whole event was a huge success.  On the day we had set up a little money tin for anyone who wants to donate loose change, but we ended up with around $400 in there.  The guys who organised set up a donations link, which raised $2,900 and just before Christmas Lyla received a letter from the Premier which included a $500 cheque for her.

THANK YOU  

to everyone who was involved in anyway, you made a huge difference in Lyla's life, and it is amazing to know she has so much love and support out there.

Jess

Yo Ho Let's Go - Captain Lyla's 2nd Birthday!

Sunday November 24th we hit a new milestone, one, two year ago, we never expected to see...

Lyla's 2nd Birthday! 

Her first birthday we celebrate in Wonderland, with an Alice in Wonderland themed birthday; this year we celebrated in Neverland with a Jake and The Neverland Pirates themed party - one of her favourite cartoons.

I am a huge fan of arts and crafts (ha ha goober) so this is my one time to shine and go OTT.  I think that's very important, Lyla's life (and anyone's for that matter) is very precious and I want to celebrate every milestone, no matter how insignificant they may seem to some and every birthday, because we really don't know how many we'll have... We're hoping for a lot!  So why not splash out and have a huge party to celebrate Lyla? 

We had our closest friends and family and Lyla's friends over (though some had to pull out last minute due to sickness and this bloody stomach bug going around at the moment), but it was a great day, and Lyla was spoilt rotten!

Here are some pictures from the day...

Jess

Scoliosis Check-Up, Part 2

Yesterday Lyla had her 1 month orthopaedic follow up, at the Women's & Children's Hospital, for more x-rays and I guess a bit more of an idea / plan with the MRI and surgery on her spine.  

We started off with having several x-rays done with the doctor as he wanted us to pull and stretch her out as much as possible so he could see the amount of flexibility she has in her spine; this turned out to be very unsuccessful, as he told me afterwards, but I knew that anyways as she was upset, therefore tensing and not relaxing.  After this traumatic experience we headed back down to clinic where I was expecting to be told the big plan with the surgery, something I had prepared myself for over the last month.  Well, things apparently changed...  Dr. Selby (orthopaedic surgeon) came in and said 'I'm going to put her in a cast'.  Huh?  What?  It seems Lyla is still too small for surgery and the nuts and bolts don't come in little baby Lyla size, and she may not have another year or two to leave things how they are until she is big enough.  

As I mentioned in the last post about this degree of curvature causing lung and heart problems.  Leaving her spine as it is until she is big enough could, and possibly will, kill her; her lungs will not grow and develop.  

So she will be having a cast called a Risser Cast put on to control, not correct, her spine until she is big enough for surgery; he suggested this last year, but due to all the other health issues she was having it was not a good idea.  At the same time, she may be having her hips cast as they have always been dislocated, but he will discuss this with her other orthopaedic doctor, Dr. Allcock.  The casting is done under a general anaesthetic, so I filled in admission papers yesterday and it is scheduled for January 29th, 2014.  He still wants the MRI, so that will be done under the same GA.  The cast only comes off for re-sizing and will remain on for 4-6 months!

I've tried to research Risser Casting, but I can't find a whole lot of information on it, as it is an older style of casting.  I've read it goes under the armpits down to the hips, but I've also read it goes over the shoulders to the neck and sometimes past the hips.  I think the thought of her being in pretty much a full body cast (hips casted too if they decide to fix the hip dysplasia) is harder for me to accept than the surgery.  I've had so many questions pop into my head since the appointment - the worst I keep thinking is what if something happens to her and she needs CPR?  

Jess

I Didn't Choose The Scoliosis Life, The Scoliosis Life Chose Me...

To start, and I have probably mentioned in previous posts, Lyla has scoliosis - a right curve with associated kyphosis (curve protruding from her back) 

...

Back in September 2012, Lyla had an orthopaedic appointment for a spinal check-up and x-ray; at that stage Lyla's spine had curved to about 70º+ in the space of 10 months, so it was quite a severe and progressive curvature.  At that September appointment the specialist told me (as we discussed this at a previous appointment) a spinal brace would not help Lyla - 1. because it is very constrictive and will not help her already bad breathing issues, and 2. her spine will more than likely return to this position over time.  He breifly mentioned surgery, but said she was too young so all they can do for the time being was to monitor it and return in a year.

So fast forward to last Friday when we had the follow up orthopaedic appointment.  We had a 9am appointment at the Women's and Children's Hospital - 9am is not usually a time we are up and in the city by, but the good thing about the early appointment was a semi empty clinic, therefore we did not have to wait the normal 2 - 2.5 hours to see the specialist... Anyways, straight away Lyla went to have an x-ray, this is a somewhat traumatic experience for Lyla, she is not normally awake at 9am, but here she was naked, on a cold table being pinned down and stretched by a stranger.  I try to make all these things as happy or as enjoyable as possible by doing all her favourite things, like explaining everything we are doing; 'one arm out, two arms out, boof out' as I take her shirt off, and 'arms up, up, up' as the radiologist tries to force her arms up in an un-natural position for her; none of this actually helps, but I guess it makes me feel better knowing I am doing what I can to try and make her feel better.

I got the x-ray image straight away and headed back down to the clinic, I thought I would take a quick peek at the x-ray as I waited for the lift, my heart sank as I started to pull it out and I saw all her little ribs squished and the curve of her spine.  I knew her back had worsened, but I don't think I was expecting it to look quite as bad as it did.  We waited about 30 minutes to see her specialist, he came in and measured the curve on her x-ray and he said it has reached and slight passed the 100º mark - 100 degrees!? 100 degrees!?  I remember the last time I saw him he said, "Once a curve reaches 90º people start to have lung and heart issues", Lyla is now at 100º what does this mean?  I asked if he has seen this degree of scoliosis on someone before, he said he has, its very rare but he has seen it with older people, and that it is very, very rare for someone Lyla's age to have this severity.

He checked Lyla out and did all the usual things, he said she still has some flexibility in her spine which is good, he also said her spine is rotating and we're now stuck in between a rock and a hard place and she needs something done as soon as possible, and surgery is the only option... Surgery was something we didn't want to do, especially when Lyla was younger, because her future was so unknown we didn't want to put her through surgeries just for the sake of it, but if that's the only option we have, we have no choice... The specialist said the plan is to return in 1 month for some more x-rays and then he wants her to have an MRI (under anaesthetic).  Lyla is having an anaesthetic in January for botox in her arms, so I asked if he could contact her rehabilitation doctor to combine them, which he did, but he wants it done sooner, so he'll try push the botox forward.  And after all of that, surgery.  He said because Lyla is so small and still growing, surgery will need to be performed every 6 months to replace the rods.  Apparently there are some other, newer options, but he is unsure if they're available in Australia, or if they're available in her size.

this is her x-ray from last week

This is a comparison - image on left is most recent October 2013 - 100º

image on right is September 2012 - 70º

Jess

My Child - the most 'normal', medically abnormal child out there

Two weeks ago we had a metabolic appointment and finally got the results from Lyla's liver, skin and muscle biopsies she had done back in June; the results were just as I expected - 

all normal!  

I'm have copies of the reports, none of which I can interpret by myself, but from what I was told some of her results did come back higher than 'normal', but not so abnormal that it would suggest or direct them to a diagnosis.  Her liver, which has been a bit of a concern to doctors (large, extremely high LFT, discoloured, etc) came back as slightly fatty; but once again nothing to worry about.  This was a relief to me, especially after hearing the surgeon who performed Lyla's gastrostomy, say her liver looked very unhealthy.  This made my brain go into overdrive thinking she is going to need a liver transplant, etc, etc.  Thankfully that's not the case. 

So what's next?  Her metabolic doctor will have a meeting with her neurologist and geneticist to see if she can have whole-exome sequencing genetic testing done.  Exome sequencing is a new, very sophisticated and quite expensive genetic test, which requires bloods from child and parents to look thoroughly through the DNA finding any defects and genetic disorders; this is our best shot at the moment.  Fingers crossed we get the green light for this.



Jess