– Flight JQ736 – Departing Launceston about 10am
– Mummy and Daddy flying out to see Alyssa in the hospital in Melbourne.
There’s lots of happy travelling families on the plane and we just feel so shattered. It makes us wonder when we’ve flown in the past, and been the happy travellers, if there has been someone suffering on the same plane, feeling just as lost and helpless as we feel now.
It is really hard knowing that for one hour we are not contactable should the hospital need us – we’re sure Alyssa is stable and ok though. She’ll be in good hands.
At the Royal Children’s Hospital:
We arrived at the RCH at about 11:50 and we went to have lunch first so we could then go and see Alyssa and spend lots of time with her. Alyssa is in Room 4 (3rd floor) in the Neo Natal Unit (NNU). She is being looked after by Jude who is lovely. We got her dressed in her own clothes to warm her up a bit and I tried to feed her but she was too sleepy still. We found out that we got a room in the Ronald McDonald House too which has taken a lot of stress off our minds, so we can now focus entirely on Alyssa, knowing we have a bed for the night.
Jude paged the metabolic specialists as soon as we had arrived and the metabolic team came to meet us within half an hour of us arriving in the room. We met with Dr. Avihu Boneh (Head Medical Specialist), Maureen Humphrey (Dietician) and 2 Fellows, Alison Cozens and Himanchu Gael. They are a fantastic group of people and it was excellent talking with them. They will be our support team as we deal with Alyssa’s condition. They let us tell them what we had learnt from reading about Glycogen Storage Disorder and then told us what they needed us to know in terms of dealing with the condition.
They are very confident that we were dealing with Glycogen Storage Disorder and were ready to start treatments and management straight away based on this provisional diagnosis. They weren’t interested in doing a liver biopsy as we were expecting, preferring to take the longer approach of sending genetic material to the US for testing which will take around 2 months for confirmation but it far less traumatic for Alyssa than a biopsy would have been.
Some things we need to remember from our meeting:
- Alyssa can’t process sugars stored in her body properly.
- She will need a rigid feeding schedule to maintain her glucose stores and blood-sugar levels.
- There does not need to be any dietary restrictions.
- This is a genetic condition, Warren and I both being carriers, and our children have a 2 in 4 chance of getting GSD (LUCKY LIAM!!!)
- Both Warren and I carry the recessive gene for GSD to have passed it on to Alyssa.
- Alyssa will be fed via a permanent naso-gastric tube, and overnight via a syringe driver pump to give continuous fluids/glucose. When she is a bit older (anywhere from a couple of months) she will have a small plug directly into her stomach which will need replacing every few months and will stay there until she is a few years old (or more if she wants it). This will give us a backup if we can’t get her to feed so we will just need to feed with a special formula perhaps.
- I am incredibly keen to breastfeed so we can base our management plan around a breastfeeding schedule.
- She will need regular vaccinations as any child would and should live a generally normal lifestyle as long as she has regular feeds.
- Dr. Boneh intends to manage Alyssa’s condition in line with European philosophies and not American. Information on the internet is more likely to be American which tends to follow a more rigorous management plan. Dr. Boneh does not believe Alyssa will need any dietary restrictions at all, and American doctors restrict breastfeeding which we will not be doing.
- One day a liver transplant may be an option but we aren’t contemplating it as her condition can be managed and there are considerable risks with a transplant – transplants have improved greatly over the last 10 years and in another 10 years research will mean anything could change. There may also be the option of some form of liver transfusion.
- Alyssa will probably always be short, she may have a pot belly for a long time and she will probably have a rounder face.