There isn’t anything “wrong” with Alyssa at all.We think she’s absolutely perfect. She just happens to have a metabolic disorder.
So Alyssa has glycogen storage disease? What does that mean?
The type of glycogen storage disease (GSD) Alyssa has is most likely Type 1a. In GSD 1a, the body can store excess sugars as something called glycogen, however it cannot turn the glycogen back in to glucose (sugar) for energy.
It’s like being able to put food in the fridge, but never take it out again when you need to eat. Because of this, Alyssa needs to be fed every 3 hours or so, to make sure she has enough glucose in her system to keep her body running.
So will she grow out of it?
No, never. Just like insulin-dependent diabetics don’t grow out of their condition.
Can’t she just have a liver transplant?
Well, that would cure it. However there are a number of reasons why this isn’t likely. The first is that the wait for recipients needing a donor liver is about 12 months for patients who have a terminal liver condition. Because Alyssa’s current condition is not life-threatening provided it is managed properly, she is not really a candidate for a donated liver.
There is the possibility that she could receive a voluntary donation from someone who had a compatible liver – a child can theoretically receive part of an adult liver and both the child and adult continue to function normally. Even then, there are a number of significant risks to both her and the donor that make it a risky course of action for a manageable condition. Such a live liver transplant procedure has only been done twice at the Royal Children’s Hospital (RCH) in Melbourne.
So what happens at night?
The RCH have provided us with a feeding pump. This allows us to feed a continuous amount of milk to Alyssa overnight to ensure she gets enough glucose. The pump feeds the milk via a naso-gastric (NG) tube into her stomach.
But hang on, don’t those tubes come out easily?
They can, which is why in March we will return to Melbourne with Alyssa to have a PEG placed – a direct port into her stomach through her abdomen. Don’t worry, it sounds worse than it is.
What if the tube gets blocked though?
It is possible as Alyssa gets older that she may roll onto her feed tube and block the flow. The pump has an alarm if the line is occluded (blocked) for any reason. It also has a battery backup in case the power goes off. The only thing it can’t detect is if the tube comes out or the connection to the pump comes loose.
What happens when she gets older?
Alyssa will have a PEG in her stomach for as long as she wants to – once she is old enough to manage her condition. Until she is old enough to do so, we will have the PEG in as a safety measure in case of an emergency, and for continuous feeds at night time.
Emergency?! What happens then?
If Alyssa goes hypoglycaemic, we need to immediately give her glucose. If we can get it into her via her mouth, NG tube or PEG, it means we don’t need a paramedic or doctor there to save her life.
Orally/enterally, she must be given a solution of polyjoule which provides enough glucose to save her from immediate brain damage or death, but she will need to go to the hospital immediately for further treatment. If we can’t give her polyjoule directly, then she needs to have a 10% dextrose drip to provide IV glucose. (Don’t worry, we have a special card with the emergency instructions on it).
So if she chooses not to have a PEG, how else will she be able to manage her GSD as an adult?
The simple answer is: “an alarm clock”. Some adults are lucky enough and their metabolism slow enough that they can wake once during the night to drink a cornstarch solution (basically cornflour and water) that releases glucose slowly as it digests. This provides them with sufficient glucose until they wake up in the morning.
Research in dietetic treatment of GSD is focusing on engineering a “super” starch that digests at an even slower rate than cornstarch, thus offering the hope of eliminating the alarm clock and maybe being able to sleep 6-7 hours and still wake up with enough glucose to function.
Alternatively, teenagers/adults can choose to insert their own naso-gastric tube for overnight feeding and remove it in the morning. We have heard that this is preferred by some teenagers who have GSD as it doesn’t have the same stigma as having a bit of plastic stuck out of the side of their bodies.
If she can’t have a transplant, will there ever be a cure?
Possibly. Scientists in the US have already shown they can “cure” GSD 1a in the short term with mice and dogs through the use of gene therapy. A modified virus is used to deliver the correct genetic instructions to make the enzyme that her system needs to correctly break down glycogen into glucose. It’s a ways off yet, but we’re hopeful that it will succeed in her lifetime, and that she might have hope of a carefree adulthood.
So that explains the GSD… what about her shoulder though?!
Yeah, that’s a bit of an oopsie. Somewhere along the way, Alyssa has picked up an infection. Despite the care that the doctors and nurses take with IVs, etc, babies are very susceptible to infections. I guess the moral of the story is to not take an otherwise healthy (infection-wise) child to a hospital and not expect them to pick up something.
Will she be able to move her arm properly then?
We don’t know, it’s early days, but the fact that she never seemed to lose blood flow at any point in time makes us hopeful that the only reason it was immobile was that the swelling was pressing on a nerve, or it just hurt too much to move it!
If you want to ask a question about Alyssa, leave a comment and we’ll add the answer here!