Yesterday was our return visit to the Royal Children’s Hospital in Melbourne. Warren and I woke at the ungodly time of 4:30, showered and dressed and ready to unhook Alyssa from her feeding pump at 5am and head straight out the door to the airport for our 6:15am flight. After the drama with trying to feed Alyssa on the plane on our way back from Melbourne a few weeks ago, we made sure she was well fed in the departure lounge before we boarded and she snoozed almost the whole flight.
We arrived at the hospital by about 8:30am and headed straight up to the genetics department on the 10th floor to make sure our appointments had been organised properly. We waited for half an hour or so for Kim (clinic receptionist) to arrive to see if we had times to see both the metabolic team and the genetic counsellors. Dr. Boneh came out to see us and said he wanted us to sit and chat with just the metabolic team and that he didn’t want us to meet with the genetics counsellors until we’d received definite confirmation of Alyssa having GSD from the DNA testing that went to the USA because on the chance that she doesn’t have it we might overload ourselves with information unnecessarily, so we were happy to leave that for now.
When we were staying in the neo-natal unit at the RCH we arranged for Alyssa to have an MRI of her brain (booked in for yesterday) to check for any brain damage that could have occurred when she almost went into a hypoglycaemic coma on day four. We also booked a follow up appointment to see the physiotherapist about her arm (when they thought it was Erb’s Palsy) but when we found out it was actually due to an infection we cancelled that appointment. A follow up hearing test was also booked for yesterday as she was high risk for hearing complications having been on gentamycin (antibiotic) but we managed to get that done in Launceston before she was discharged from hospital. So that left just the MRI and the meeting with the metabolic team.
The MRI appointment was booked for 10:30 and we were asked to bring her to the imaging department at 9:45 so that she could be cannulated and have a breastfeed to send her off to sleep. She needed to have another cannula put in (the poor thing) so that they could inject a contrast dye into her veins to help the images. Dr. Boneh also asked the doctors to take some blood to test Alyssa’s lactate levels, triglycerides, liver function and cholesterol. She was quite worked up after being cannulated so we took her to a quiet room for a feed and wrapped her tightly to help her off to sleep. Within a minute of them taking her into the room we could hear her screaming from the waiting room while they got her organised but she seemed to stop within a couple of minutes. Because they need her to be absolutely still, they need her very relaxed and sleepy or the MRI would be useless. It was about 45 minutes before they brought her out to us and said it had worked fine and we’d hopefully have the results that day. We still haven’t heard anything but Dr. Boneh seemed to think results would be up to a week away so if we haven’t heard by mid week next week we’ll give them a call.
After the MRI, we grabbed some lunch and headed up the the 10th floor again to meet with the metabolic team. Alison (Metabolic Fellow) came and had a quick cuddle and checked out Alyssa’s battle scar on her arm before racing off for another meeting but thought she’d grown quite a lot since she was last in Melbourne. We went and found a room with Dr. Boneh, Maureen (dietitian) and Himanchu (Fellow) and they’re really pleased with how well Alyssa is doing. They’re very impressed that she’s maintained such good blood sugar levels (BSLs) even with a major operation and a touch of gastro and tend to think if Alyssa does indeed have GSD that it could be a mild case.
Our general management plan is to feed Alyssa as she demands, but leaving no longer than three hours between feeds. A few times Alyssa has not been fed for 3 1/2 hours for various reasons and she has coped really well and maintained good BSLs. On a couple of occasions she even went over 4 hours without a feed (during medical procedures in hospital) but she had been given sucrose for pain relief which would have raised her BSLs. However, I am starting to feel confident that Alyssa could last 4 hours between feeds and spoke to the team about safely testing this as it would make life that little bit easier if we had 4 hours instead of 3 and it seems silly to force feed her every 3 hours if she can last a bit longer. They are really comfortable with us testing this out so we’ve set up a plan to try it out over the next couple of weeks.
If Alyssa makes it to 3 1/2 hours without demanding a feed, we need to test her BSL and if it’s at a reasonable level (above 3 is needed but 3.5 and up would be preferable) we can leave her and test again in 15 minutes to make sure she’s still above 3. If she is and can wait for a feed then we can leave her another 15 minutes and test again. If she makes it to 4 hours on at least 2-3 separate occasions then we can safely assume she’s able to fast for that long. Unfortunately today she’s just been a hungry hungry little thing and we haven’t made it past 3 1/2 hours.
I’m also starting to consider breastfeeding overnight and not using the pump (if she can make it to 4 hours safely) and they were also very comfortable with that. The pump is purely to make life easier and less stressful, but as I said the other day, I don’t really feel it’s either easier or less stressful, so if we can stretch Alyssa to 4 hourly, then they’ve suggested leaving her naso-gastric tube in, setting the alarms and seeing if she wakes to demand regularly. If, after about a week, things are working well we could feel confident in removing her NG tube altogether. I’m pretty exhausted after a really long day yesterday so we’ve decided to leave it a couple of nights before we start. It is a bit nerve wracking but I’d like to give it a try.
We also discussed the American focus on dietary restrictions and how to respond when they tell me I shouldn’t be breastfeeding and they’ve simply told us that as far as (the metabolic team at the RCH) are concerned, there has not been enough research done that proves dietary restrictions make a significant difference to quality of life of GSD patients. As long as her lactate levels remain within reasonable boundaries (it will be interesting to see what the blood tests show up) she is right to eat sugary foods, dairy and fruits in moderation. The cornstarch regimen was also discussed with Maureen and she thinks we’d start closer to a year old and Alyssa would need to have a couple of tablespoons of cornstarch every few hours to give her a base level of glucose to function on but it’s all very individualised so it will depend on how Alyssa is coping at that age.
The Metabolic team are also happy for us to look at getting the PEG put in here in Launceston, which is good news, but we will need to go back and see them in early March to devise a plan for her needing to fast for the surgery and in the 24-48 hours following insertion of the PEG as it will interrupt her feeding a little bit. They’re hoping if she’s still being solely breastfed that it shouldn’t be too much of a problem for her.
Not a lot more can be decided until we know for sure, with DNA test confirmation, that we are dealing with GSD and what type it is. A couple of scenarios were raised.
Outcome 1. Testing confirms that Alyssa has GSD. If this happens, the doctors want to know how well she can cope with her BSLs and they would like to test her tolerance levels. To assess this, we would have a hospital stay over a couple of days, insert a drip ready for an emergency, and let Alyssa fast for as long as she can before she starts to get hypoglycaemic and needs dextrose. This will give us an indication of how her body is coping with the disease and affect our management plan. With any luck we’re dealing with a mild case.
Outcome 2. Testing does not confirm the presence of GSD. If we get a negative result back, Alyssa will most likely need a liver biopsy to seek out information on other possible conditions. We would probably do the hospital fast as well to see if she can go through the night without needing a feed. Hopefully a negative result would just mean good news and we have a perfectly healthy little girl who just suffered a nasty infection which caused lots of problems for her – and not bad news of something worse to deal with, but hopefully that’s not an option.
So now we continue as we are, see how Alyssa copes with a bit of tweaking to her routine, and wait for results – MRI, blood test and the genetic test. Let’s all hope for good news on all of them!
We ended our day with a trip into the city to try and finish some christmas shopping but we were so tired and we didn’t really know where to look for what we wanted so it turned out to be a bit of a waste of time before finally giving up, finding food and heading back to the airport on the Shuttle Bus to wait for our 9pm flight home. It was unfortunately delayed a little on the tarmac but we were home by about 10:30pm and into bed by midnight, absolutely worn out. Alyssa even managed to sleep right through until about 7am on the pump with only a few grizzles through the night. (Hrrmmm, do I really want to give up this pump and feed her like a regular baby ???? hehehe)