Monthly Archives: January 2009

WOW! YAY! OMG!

I don’t know what else to say.

I just got a call from the head metabolic physician, Dr. Boneh, from the Royal Children’s Hospital in Melbourne. He had just received a fax from the US with the results of Alyssa’s DNA tests and she is clear of GSD, Glycogen Storage Disease. Wow!
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Australia Day Weekend

We headed off to Scamander for Australia Day weekend with Warren’s parents, Angie and David, to stay in their holiday house with them. When we first found out how sick Alyssa was and was likely to be for the rest of her life we instantly doubted our capability to go on this regular little holiday as it’s a couple of hours to the nearest major hospital in Tassie and if she had gotten sick very quickly we could have been too far away. But with her improvement and maintaining her blood sugar levels so well we had started to think we could do some of these very normal things for our family. So we packed up the tubes and tape and glucometers and formulas and syringes and everything we might need in an emergency, not realising this would be the last time we’d ever need to go through this exhaustive routine as it was a week or so later we found out it was all unnecessary.
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The apology that wasn’t !!!

It was during our stay at the Royal Children’s Hospital, that Alyssa’s right arm became virtually paralysed, eventually painful and we mentioned it to the neonatologists that were doing the rounds. One doctor (we assumed the head doctor on those rounds) gave her shoulder a bit of a squeeze, moved her arm a little and diagnosed Erb’s Palsy – nerve damage likely to have occured during a difficult birth and sent the physios to visit us and give us some exercises to do. We weren’t convinced, and mentioned so, that this was a correct diagnosis as it was far from a difficult birth and Alyssa’s arm hadn’t been this way since birth but we had noticed a gradual disintegration in movement during our time in Melbourne.
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Sometimes I am reminded that things could be worse…

This is an amazing story to read if you have five minutes to spare:
DIY DNA: One Father’s Attempt to Hack His Daughter’s Genetic Code

She was born with a rare genetic disorder, and at one point the Rienhoffs feared she might never walk, let alone run and skip. Physical therapy has helped tremendously, but even today Beatrice struggles to climb stairs, and her muscles remain alarmingly frail. Hugh also has good reason to worry about her heart—the disease could dilate the aorta, with fatal results.

Nobody can say for sure what lies ahead for Beatrice, because no one really knows what’s wrong with her. Hugh has taken her to see some of the nation’s finest medical experts in hopes of finding a diagnosis, but the doctors have all been baffled by the girl’s strange array of symptoms. This has left her in a sort of diagnostic purgatory, making her illness all the more fearsome and traumatic.

Families facing this kind of medical uncertainty are often paralyzed by their distress. But rather than give in to his anguish, Hugh Rienhoff made an extraordinary decision: He would dig into Beatrice’s genetic code and find the answer himself. A biotechnology consultant by day, Rienhoff has been an avid student of clinical genetics since he earned his medical degree nearly 30 years ago. Now he has used this expertise to transform his Bay Area home into a makeshift genetics lab. Surrounded by his children’s artwork and bookshelves loaded with his wife’s political literature, Rienhoff set about sequencing a number of Beatrice’s genes, preparing samples using secondhand equipment and turning to public databases to interpret the results.

There is also a video here of a talk given by Dr Rienhoff at Google, but it’s an hour long, so be warned.

It’s probably a good thing that I have a Computing degree, otherwise this could be me. Hopefully, we will have our own answers soon…

Oh swear words …

I did it again 😦

Usually I have Alyssa’s alarm set for about 6 hours at night but she didn’t get a lot of sleep yesterday (or it was broken sleep with all the visitors) so I set it for 6 1/2 hours but that’s okay because we know she’s made it to 7 before. However, knowing this still doesn’t stop us from being cautious – not until we get these DNA results back soon. So last night I may have said a rude couple of words when I heard Alyssa cry and sat up wondering when the second alarm (set 10 minutes later as a back up) was going to go off. I looked at the clock and the answer to that question was “one hour ago!” Initially I freaked because I thought that had been 8 hours but once I’d settled feeding her I realised it was only 7 1/2 but still longer than she’s been yet.

Warren wanted me to just feed her straigh away but I had to know her BSL so I quickly checked it and would you believe it … 5.0.

So great news really that she can obviously last that long – there are plenty of other Mums to newborns out there, jealous that Alyssa sleeps for so long overnight and we initially thought we were living on a three hourly basis so this has been wonderful. We’ll still stick to the 6 hours until we know for sure but she looks like she’s doing really well. I just wish we knew for sure – and if she doesn’t have GSD, I wish we knew what was up with her liver.

Sunshine, friends and family …

We’ve had a very social week this past week.

Ante-Natal Get Together

Last Sunday we had a get together at our house with the other parents we’ve kept in contact with from Liam’s antenatal class. There are four couples who’ve stayed in touch over the past 2 1/2 years. We all had our children – 3 boys and 1 girl – within 3 weeks of each other. To keep things interesting, three of us have had our next children at the same time. Alyssa was born on Octoer 22nd, Georgia was born on November 22nd and Carol’s baby is booked in to be born on January 22nd. It’ll be interesting if Carol has a girl too, seeing as Jo, Carol and I had boys last time. It is always lovely to catch up but now it’s even more exciting with the second round of kids joining us.

We always take a photo of the 4 kids in the order of their births with Cooper being first and Liam being the baby. It’s not always easy getting this photo and this time it was Liam’s turn to be grumpy and not co-operate. This was the best shot I got but at least Liam is facing towards the camera.

Here’s Round Two: Jo with baby Georgia, Carol with her tummy bubby, and me with Alyssa.

I can’t wait until Georgia and Alyssa are a bit older and can play together like the older four have been.During this visit they both just laid there but they did snuggle themselves up together for a bit.

Melissa, Kate and Sandy

On Monday Liam, Alyssa and I went to meet some old work friends of mine, Melissa and Sandy and caught them up with Alyssa’s fun and games and just had a lovely afternoon together. Melissa’s daughter Kate is only a couple of months older than Liam and we worked together on the same class when we both returned from maternity leave so it’s been lovely to catch up as we don’t get to see each other very often. Sandy is due to have her next bub in the next couple of weeks as well so it was great seeing her.

Nat and Bronwyn

On Wednesday night two of my current work colleagues and good friends Nat and Bronwyn came around for a bbq and some cuddles with Alyssa. The last time they saw us was just before Alyssa was wheeled off for her arm surgery and I collapsed in the operating theatre with a gallstones attack so we were long overdue for some cuddles. Nat was my next door neighbour teacher who looked after me wonderfully while I was so sick, pregnant with Alyssa. I missed a lovely photo opportunity while she entertained Liam with a bedtime story. Bronwyn  bought Alyssa this gorgeous outfit – can you guess what she teaches at school? Yep, she’s the music teacher 🙂 Thanks Bron!

Monique, Clint, Kynan and Stephanie

Friday night had us entertaining the Reid family. Monique was responsible for Alyssa’s beautiful birth canvas posted earlier in the blog so we had to have her around to see the canvas proudly displayed on her bedroom wall 🙂 Again, lots of lovely cuddles, and Liam really enjoyed the evening playing with Steph and Kynan.

A beautiful Saturday with family

One of my favourite aunties 🙂 Aunty Carol is visiting in Tassie at the moment and Mum and Dad decided to bring her up to Launceston for a drive so we decided to have a nice bbq lunch. They brought Poppa and Carol’s two boys (who I was sure were still about 10 years old but apparently cousins grow up when you don’t see them for a long time) Tim and Nick with them and we spent the day sitting out on the deck in the beautiful sunshine enjoying a yummy bbq lunch and catching up. I don’t get to see Aunty Carol very often so it’s always a treat and she loved cuddling with Alyssa for the afternoon.

It’s just been such a wonderful, relaxing, enjoyable week catching up with good friends. We really should make time to do it more often!

Summer has finally arrived!

The weather hasn’t been terribly inspiring lately but summer decided to show up this week and Liam and Alyssa finally got to test out their bathers that Santa brought them. Liam had a wonderful time jumping around in the sprinkler.

Alyssa wasn’t quite so keen (the water was a bit cold for her in the paddling pool) but she looked pretty cute in her little bikini. If she ever needs the stomach PEG she might not feel comfortable wearing a bikini so we thought we’d give her the opportunity now, just in case. We think she looks pretty cute in whatever she wears though, with or without tubes and PEGs!

Is it? Isn’t it?

We visited with the paediatrician, Dr. Dunstan today, as a follow up from our last hospital visit.  We filled him in on our last visit to Melbourne and he was happy to hear her brain scan was all clear. He was pleased to hear she’s feeding well and that her blood-glucose levels are remaining stable even after 6-7 hours. Even he began to wonder if we were dealing with GSD as well and he was wondering out loud about the state of her liver when we jumped on him to ask him to please poke her tummy and tell us what he thought. We’d been waiting for this appointment for a while – just so someone could feel her liver and give us an idea.

He patted and poked for a bit and his initial thought was that her liver didn’t seem too prominent and not obviously enlarged. I know my heart leapt into my throat – it’s the news I wanted to hear but had tried to convince myself I wouldn’t so as not to get my hopes up. He was very keen to get an ultrasound done – good because begging for one was going to be my next step – and wanted the results before he went on leave for a couple of months so he called down a favour to the radiology department and got us an immediate appointment.

So we wandered down to the ultrasound area and only had to wait half an hour before they could fit us in. I was so nervous as I laid Alyssa on the bed and sat down.

Long story, short, Alyssa’s liver still appears to be larger than expected for her age but not massively so. When she had her first ultrasound at about a week old it measured 7.5cm across and now it measures 8.3cm. So it’s grown but then so has she and the sonographer believes it has grown proportionally to the rate she has grown in that time. She said it shouldn’t be much larger than her kidneys at this stage and it was definitely bigger. So that brought me back down from the ‘hope cloud’ pretty quick.

However, the texture of her liver does not appear as bad as her first scan was. Her first scan showed a very ‘patchy’ liver – echogenic was the term used – which signifies what they called, a ‘fatty’ liver, which first alerted them to a problem. They said she appeared to have a fatty liver much like an adult would have, which wasn’t normal for a baby. Her scan today shows what appeared to be a normal, healthy liver – just bigger than it should be at this stage. She said it was a obvious improvement in the liver’s appearance from seeing her previous scans so we’re left with great news and ok news.

We tried to contact the Melbourne metabolic specialists today to get an opinion on what they think this might mean, but no-one was available and no-one had been able to get back to us today so hopefully we’ll hear from them soon.

So now we’re left waiting for the genetic testing to return as it’s the only way now for us to know if we’re dealing with Glycogen Storage Disease or not. As it is, this will only tell us if it’s GSD Type 1a or not. It’s possible she might have another mutation of GSD which is a milder form. We can really only guess which does no good so sit and wait is the preferred method of surviving this phase!

And we wait …