Been here too many times

So in the last 4 months we have had 4 visits to the emergency department. One of those was for Mr J when he was bitten by a dog and thankfully it was minor. In and out in a matter of hours! It was a Friday afternoon too so I got to go home and chill. The other 3 have been for Miss L and every one required admission and they were all on the weekend too?! So bizarre. Sadly they were all for the same thing. Respiratory distress and going downhill very quickly. Last time we were admitted a week before we left for Bali in December. When we left I asked for a care plan so we would know what to do next time. We got the letter of discharge saying there would be follow up and referrals to ENT and Respiratory but nothing came through. So we got to week 4 of full time school with a few hiccups...mysterious rashes and swollen lips, eating and mouthing things in the classroom and general tiredness. Then on Wednesday the teacher said she had a runny nose but it was clear and she acted fine. Thursday morning L was very snotty and had a temp. Andrew is home on long service leave at the moment and it happened to be the one day he was catching up with some friends. L and I stayed home together and she was very clingy and lethargic. On Friday she was getting worse and was very blocked up. By 10am she was falling asleep and had a moment when her breathing stopped and she jerked awake gasping. I had her right next to me and even took a few videos of her breathing. Just an FYI for Mummas the Drs really appreciated that. I put it close to her mouth and you could hear the wheeze and then showed the tug in her chest. By that afternoon I knew it would mean a trip to ED.

I'm so experienced by now as soon as I picked up the big kids from school I started packing a bag. Friday night and Andrew was supposed to be out for dinner and I had drinks with my girlfriends  and all was suddenly cancelled. I grabbed a backpack and started organising. For me I pack what I can in a few minutes including:

A night nappy for L and pajamas (The hospital has spare pjs so don't stress)
My phone, Kindle and charger
Lip balm, tissues, hairbrush, toothbrush
Snacks and any dry foods. Late nights often mean everything is closed
Coins for parking and vending machines
Spare clothes for me. Most times I've been up all night and don't even get to put pjs on.

Then off we go. PMH is a bit of a drive for us but last time we went to a different hospital we were sent via ambulance to PMH and told to go there direct next time. Parking around the back in Hay St is 60c per hour so I put in as much as possible covering me to 2pm the next day. ED wasn't too busy at 4:30pm but as soon as they saw L we went straight in. The nurses took our story then went ti read her notes. The last time we went in the Drs said the Ventolin didn't show much improvement but this time they wanted to try again. The problem being L knew where we were and was scared of anything they wanted to do to her. With her sensory aversions anything around or on her head is very sensitive. Hence why hair brushing is actually painful for her. So the idea of putting a mask on was not a good one. She was kicking and screaming and in the end we had to hold her down to get 6 puffs of ventolin in. Then they wanted her to hold the mask for oxygen but she was crying her eyes out by now. This of course increased her heart rate and the breathing went downhill. Eventually we managed to get her holding the mask as close to her face as possible without touching.

Oxygen sats dropped to 81 and heart rate was 142

Then the nurses put the "magic cream" on which is Emla numbing cream on the back of both hands and her inner elbow. As soon as they did she started crying no needles. So there is me trying to say no we won't need any needles it's just in case. Unfortunately we didn't have the most sympathetic nurse and she didn't understand that L is very smart and switched on and keeping her calm was the only way to get anything done. When it came time to put the cannula in we went into a separate room and had 4 people there. One held her legs, one held a book in front of her face so she saw nothing, one held her arm straight and another put the needle in. As soon as she saw the room L knew what they were doing and I tried to keep her calm. She was close to hyperventilating and we had to turn the monitors off. Finally it was in but it was the left arm and the elbow the trickiest spot as she is left handed.

After we had the cannula settled she was started on IV antibiotics and off for a chest X-ray. The tech said how smart she was knowing how to stand, I said no it's way too much practice. Finally we settled down in ED and then Radio Lollipop arrived. Just at the right time as they insisted the mask go back on. So L was promised a visit from the Lollipop ladies if she put the mask on and let it finish the Ventolin. At this moment I realised how bad it was that we were on our second lot with no improvement and needing oxygen in between. The volunteers for Radio Lollipop were awesome and made her a balloon dog and blew loads of bubbles to keep her calm.

We actually got up to the ward fairly early but there was no parent bed just a recliner. Those things are so incredibly uncomfortable!

We had a really bad night with oxygen needed all night and antibiotics. The nurses came in every hour and had to leave the light on to check on her. By the time the morning came I was a tired zombie and I headed down to the cafe for coffee. Miss L was coming round in the morning and seemed more settled.

Thankfully they sent us home that day with the promise of a follow up with our Paed....again.

15 hours in the emergency department

Saturday night we were going trick or treating and Miss L was so excited. She had a very slight runny nose that was clear but wasn't sick. After a busy night she went to bed about 8pm and choked on her milk and vomited it up. Straight away she was back to sleep until 11pm. She woke up upset and crying and came into our bed. Normally when sick L sleeps and sleeps a lot. This night was different as she would get upset walk out of bed and roam the house. She literally didn't sleep all night and was up and down the whole time. Finally around lunch on Sunday she feel asleep. I went to check on her and she was hot and not sounding too good. After half an hour I checked on her again and I didn't like the sound of her breathing. Mr J suffers with croup and it sounded similar. Her chest was clearly tugging and struggling to get air in and she had a wheeze. I called the Dial A Doctor service and they said they would be there shortly. Around 1:30pm they arrived and gave her some steroids. The Dr recommended Ventolin and if no improvement in 20mins to go again. Then if no luck to go to ED. So we did that and both Andrew and I could see there was no improvement at all.

So from there experience kicked in. We packed a bag with spare clothes for L and a water bottle. Some snack foods and my phone charger and off we went. We went to our closest ED as I was worried about the long drive to PMH without being able to see her. We have almost no family support and Andrews parents were away so it meant he stayed home with the 2 big kids and I went alone. When we got there the nurse saw us and took us straight through as a category 2. 1 being the highest I knew it was serious. Straight away I explained what had happened and they thought she must have been sick for days to get to this point and i explained she was fine until late Saturday night. We went through her medical history which of course is complicated and requires explanation. The Dr's gave her the nebuliser first with a mask which of course upset L as it was on her face. Lots of talking and holding teddy and finally she agreed to hold it herself near her mouth but not touching.  We kept this up for a while when they decided they needed a cannula in. Oh so not fun. Miss L is way too experienced with Doctors and pain and as soon as they pulled the strap out they use to tighten on your arm she freaked out! The nurse was lovely and asked me if there was anything they could do to make it easier and i said no just go quickly don't drag it out. The Dr couldn't get it in on the left side so we had to do it again on the right which meant more struggling and being upset. All 3 of us held her down but we got it in.

So for the next few hours they took blood and urine samples and kept up the nebuliser. Andrew came in around 9pm with my dinner. It seems everyone forgets about the parent or carer especially when L was lying on me and I couldn't even move to get a drink. Thankfully a friend came over to look after the big kids so Andrew could come down. I don't think i would have lasted as long without the coffee and food. Plus he bought me a drink bottle so I could keep hydrated. My friend also gave L a book which we read over and over. Around 10:30pm they said the specialist Paediatricians were on their way. They were busy in delivery and labour and ED so they took an hour or so before they arrived. Basically the Dr who had been seeing us didn't know what to do as the medication wasn't working as fast or as well as it should and they were worried her metabolic issues were having an effect. The paeds were lovely as we went over her entire past health story from birth and they decided to contact PMH for advice. I had to sign a letter giving permission for them to fax over some details from her files. In this day and age to still have all that info at only one hospital is ridiculous.

By this time Miss L had finally fallen asleep on me and it was only 5 mins later they came and asked us to go in for a chest x-ray. Waking a very tired girl and asking her to sit still while they did an x-ray was painful and upsetting but the tech was lovely and so apologetic. We got back to the bay and they turned the lights off and left us to rest. L feel asleep on me again but I couldn't move. I managed to carefully shift her and grab my phone so I could sit and read on the Kindle app. We had an hour or so of quiet before the paeds came back to explain she would be transferred to PMH as the metabolic team wanted to check her out. The ambulance arrived at am and off we went. It wasn't until we went out that I realised it had been raining and a storm had been through. It felt almost surreal and I was so tired I nearly fell asleep on the drive, When we got to PMH it was quiet but they didn't yet have a bed for us?! So we waited in ED while they reassessed L and went through her history again. She finally feel asleep around 3:30am and I had something to eat from the food I bought. About an hour later while reading my book I noticed her oxygen stats had gone below 90% then suddenly the dropped below 80 and I leaned over to check her. I put my hand on her  chest and it wasn't moving. I called her name as the alarms started blaring an it was about 70% when the nurse ran over. I shook L's chest and yelled her name when suddenly she took a breathe. The nurse was like what did she do? I said she stopped breathing, not choking just like holding a breathe. It was such a scary moment and being in a tired fog it was such a burst of adrenaline. The nurse then put some cardiac leads on to monitor her and we stayed longer in ED because of this. At this point there was only us and one other child in ED so it as quiet but all lit up so no chance of sleeping even in the one hard chair they had. Around 5:45am they took us up to the ward. I had to retell the story to the new nurse who gave L more antibiotics before letting us sleep. It was 6:30am by this time and still in my clothes I crashed in the tiny little fold out bed until the Doctors woke me up at just after 8am. They said her breathing was slightly easier and she hadn't had the nebuliser since 1am so it was a good sign. Dr Kretzer our paed wasn't on so they got someone who worked on the same team as her to come and asses. HE was curios if she was asthmatic due to her severe reaction. Her chest x-ray showed shadowing in the lungs and fluid had been aspirated. I'm hoping we get a follow up with Dr Kretzer to discuss everything as he just left us with a lot of questions.

We were discharged then and told to come back if she started struggling again and to go straight to PMH. So Monday which was also a pupil free day for my big kids we get home at lunch and time to sleep. Typically it took me hours to fall asleep and then it was time for dinner. L was a bit more settled by now even if her cough was getting louder. Now it's time to sleep and relax and figure out what happened and why.....

Podiatrist Miss L

Over the past few months I have had so much to blog about and so little time. So here are some of the highlights:

We saw a podiatrist for Miss L 2 weeks ago. Her rheumotologist Dr Murray recommended Leah Cairns due to her understanding hypermobility. It was an interesting appointment as she had a different opinion on what L needed for support. We were using a custom made orthotic and Piedro boots for support and to help her arch. Leah said Miss L's problems were across the whole foot not the just the arch. Her ankles roll in and across the 3 foot joints they have too much movement. We had a discussion about the huge amount of movement in her foot which of course I thought was normal. It seems very likely according to Dr Murray that I have EDS too not just hypermobility. Watching how much my foot rotates I can understand why I thought L's walking style was fine. Leah recommended a shorter orthotic and a sneaker to keep her foot confined. We have a review this week to see how the walking has gone.

It was interesting getting another specialists point of view as this journey has taught me it's unlikely 2 specialists will ever agree on anything!

We were then recommended several different sneaker styles and brands with the top being a full leather Ascent brand. It was the least flexible in the sole to prevent twisting and movement and protected the top arch of her foot too.

We have had many issues with L wearing shoes for sensory reasons so they only last a few hours a day but its better than nothing.

Metabolic Appointment- New Results

So today we saw Shanti at PMH the metabolic specialist. The day was off to a bad start with Miss L not feeling great and it pouring down with rain. We arrived at 11:10am for our 11:30am appt and couldn't find parking. We literally drove around the block until 11:45am and we walked in late and stressed. Thankfully the Dr wasn't waiting and we went in pretty much straight away. The nurse checked height- 106cm and weight 17.7kg which is a great sign. When I went in I wanted to know one thing, my DNA results. August last year was when my bloods were sent off to Atlanta for testing and we had no results. Shanti said the 13 known disorders they tested for all came back negative. So that was a bust and where does it leave us?

Shanti then told me something I didn't know. Miss A's blood results over the last few years showed her MMA levels were always elevated even if her B12 levels were within the normal range. My results and Miss L's were the same. Even after B12 injections the B12 levels increased but the MMA stayed high.

MMA explanation: http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/80289

Methylmalonic acid is a substance produced when proteins (called amino acids) in the body break down. A test can be done to measure the amount of methylmalonic acid in your blood. When your levels of MMA increase it usually indicates a problem with your B12. So Shanti is saying the MMA levels should have gone down as the B12 levels went up. The fact it didn't shows there is still an issue but to this day there has never been another case like it. Then I had to sit there listening to an explanation of genes, recessive, auto dominant, cells etc and felt like I needed an interpreter. Shanti is a very fast talker but she is pretty good at explaining things as simply as possible. What we do know is that new disorders and defects are being discovered all the time. Only a few weeks ago a new problem was discovered by scientists in the Netherlands. Fascinating stuff.

So where to now? Shanti wants to do a full gene screening on the 3 of us and probably Andrew as well. It is likely he is a carrier to allow it to be passed on. A full screening means checking all 25,000 genes! Not the 13 we know about or a select few but every single one.Straight after leaving the appt with a spinning head we went in to get another blood test. L had just had one 2 weeks ago after her Neuro appt but this was more involved. I went first and as soon as L saw where we going she got upset and worked up. I hate needles and blood tests so know exactly how she feels. By the time they asked her to climb on the bed it was on! She was in full hysterics and couldn't be calmed down. I held across her shoulders another nurse had her legs and one held her arm straight. The the plebotomist started taking the blood and L was screaming, bucking and crying shouting no! I started crying then as I could see how she genuinely feared what was happening and had no control. I haven't cried at a blood test in years. It didn't help that my poor arm was getting kicked and hit just after they took blood. When finished she hopped off the bed and started hitting me and screaming. We slowly walked out and went down to the cafe. She wasn't calm but she had stopped crying. We always try and stop into the PMH Foundation cafe as the ladies have seen us for years and know us by name. The ladies were trying to offer her cake and chocolate and she kept asking for a burger. After explaining they didn't have any she picked a sandwich. We sat down where she kept crying and tried to eat one handed. The sore arm was held straight out and she wasn't using it. Thankfully after a few minutes she was calm and eating. Definitely not happy with me or the world but
under control. We walked back to the car in the rain and started back for school pick  up. 15 minutes down the road and she fast asleep in the car. I would normally enjoy that quiet time but it allowed my brain to start stressing about everything that had gone on and that wasn't a good thing. Time to let it go (like by writing it down here) and focusing on where to now. 4 years on and we are still looking for answers.  

                                             Thursday night at 5pm she crashed poor sick girl.

                                                      Not using her right arm after the blood test.

How time flies....

I honestly can't believe how busy this year has been. I thought with L at kindy I would have more time to do things and time to myself. Well considering how long it's been since I've written here I can safely say it hasn't happened.

So far this year has been a whirlwind of getting A sorted at school, sorting out L's aide time at kindy and J readjusting to Year 3. It has meant battle with school, searching for funding and getting to know the system again. I have learnt on this journey that nothing comes easily and you often have to fight for what you are entitled to.

So Term 2 is nearly over and it has been full on. Miss A's FACHSIA http://www.betterstart.net.au/ funding runs out when she turns 7 in July so we have been busy using it up. At the moment A struggles with core strength, handwriting, cutting, fine motor and grip, balance, multi step instructions, processing and sensory needs. Just to name a few.... So with the funding we started weekly physio sessions to work on strength and balance. The cerebral palsy really affects her in this area and she struggles with simple things like sitting in a chair without slumping, floating in a pool and balancing on one leg. So far the progress has been great! When we started she couldn't stand on one leg unsupported and now she lasts a few seconds. She can also hold a float position in the pool for at least 2 seconds. Her OT has been doing weekly handwriting sessions and reinforcing letter formation. When writing a few words she is fine but fatigue soon kicks in and she gets sloppy and presses too hard.

                                                         Physio Sessions for Miss A

As for Miss L this term we have been focusing on food! Well the lack of more like. I have been seeing a behavioural psych and her Speechie to create a program to cut down on her Pediasure. We are trying to increase her food intake at the same time. I have been keeping a diary of everything she eats or drinks and it's a pretty dismal sight. Most days her entire food intake would fit on a side plate. Some days she doesn't eat until 2 or 3pm. The desire just isn't there. Miss L has been sick twice over the last 2 months so that certainly hasn't helped. We monitor her weight as well and have her Paediatrician on board just in case. Her dietitian has approved the plan and we have a small margin of allowed weight loss before we have to think of something else.  
An example of her food diary is:

The one thing I wouldn't mind getting rid of is the night time milk. Over the last 6 months she has started getting up anytime between midnight and 5am screaming for milk. She doesn't wake and cry or call your name she literally screams out Ocky her word for milk. Quite a startling way to wake up. I also keep track of what days she sleeps and has school to see how it influences her eating.

Mr J has been pushing the limits this term and for the first time ever get in trouble at school. He is struggling in the class this year as the kids have been separated into several different years and most of his friends aren't with him. Plus the amazing teacher he had last year is very different to this one. She was positive, uplifting, caring and nurturing whereas his teacher this year keeps saying they are Year 3 they need to "grow up". I didn't know there was a magical phase between 8 and 9 where all kids matured and buckled down?! Ugh. It's been interesting so far to see how he is going and a struggle at home when you just feel like it would be nice not to have to worry about all 3 kids at once. Oh the joys of parenting!

The good news is school holidays are less than 2 weeks away. I am hoping we get some time out then and just get to chill. No more rushing in the morning, doing homework, worrying about school pick ups and just get to spend time together. 

LAC Meeting

Well after 6 or so years treading water by ourselves we have finally met an advocate. The Disability Services Commission have Local Area Coordinators to help families with just about everything. It seems when Miss A was registered with them years ago we should have been notified.....well it never happened. We got lost in the system yet again. After joining https://www.facebook.com/groups/WASpecialFamilies/  I learnt about LACs and what they can do to help. I asked Miss A's therapist if we could access them for help with respite etc and we were told no. I still don't know why to this day as we have since learnt that is wrong. So after spending months sorting out aide time for Miss L I asked again if we could have a meeting with our LAC. Many emails and missed calls later we had a meeting with the Area Manager. It took 6 plus weeks to organise this and even she said she didn't know what had caused the delays etc. Seems just like our story....nothing is ever simple.

The Area Manager was great and started helping out straight away. Our LAC had just moved so we had to wait 2 weeks to meet their replacement. Our new LAC has been amazing. I wasn't sure how things would go with the first meeting, especially as I had to cut it short to meet with L's therapist. We talked about aide time for Miss L and respite services. Then we booked another follow up for 2 weeks later.
So today I went in with 2 big concerns. Miss L has been given the minimum amount of aide time possible and 2 weeks to appeal. Miss A starts school swimming lessons in June and she needs and aide in the water with her. Our LAC was amazing. Everything we had talked about she had followed up on and given me the paperwork for. She had printed out Companion Card forms: http://www.wa.companioncard.org.au/ .
The Companion Card is a card issued to people with a significant and permanent disability who require attendant care support from a companion to participate at most venues and activities. Cardholders present their card when booking or purchasing a ticket from a participating business. Participating businesses will recognise the Companion Card and issue the cardholder with a second ticket for their companion at no charge.

She also talked to me about local social groups for Miss A and special needs dance clubs. We talked about respite options as we have nothing at the moment. I was so impressed to see her following up on what we talked about plus showing me things we have never heard of.

After the 2 incidents last week of both L and A disappearing she also helped give me some ideas on what to do. We looked at ID bracelets, books about stranger danger and even having a Police Officer come to the school for a talk. I am hoping that we can find a safe solution as I know this will happen again!

So we have another meeting booked to follow up on those issues and see how we have gone with accessing help. I really do wish we had this help years ago. So much of our journey has been harder than normal simply because we did it with no knowledge.

http://www.disability.wa.gov.au/
http://www.disability.wa.gov.au/individuals-families-and-carers/for-individuals-families-and-carers/local-area-coordination/
The  Commission’s Local Area Coordination program has been supporting West Australians with disability since 1988.  Local Area Coordinators (LACs) are based throughout the State and with local knowledge help people advocate, plan, organise and access the support and services they need to live a good life.
LACs work with family members and others involved in supporting people with disability, helping them to further strengthen their caring role.
In addition, LACs work to help make local communities more inclusive and welcoming. This is achieved through education, advocacy and partnerships with local community members, businesses, government and non-government organisations.
LAC support is available to people with intellectual, physical, sensory, neurological and/or cognitive disabilities who are under the age of 65 at the time they apply.
Each LAC works with between 50 and 65 people with disability, providing support which is personalised, flexible and responsive

Rare Disease Day 2015

 

February 28th is Rare Disease Day. 3 years on and we still have no name or diagnosis for Miss L. No rhyme or reason. More and more questions but not 1 answer.

As the journey continues I wonder if we ever will have an answer?

 

 

 

 "There are more than 8000 known rare diseases affecting more than two million Australians of which up to 400 000 are children. Most of these diseases are genetic, chronic and debilitating."