So what’s wrong with Alyssa then? (or, frequently asked questions)

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!

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10 responses to “So what’s wrong with Alyssa then? (or, frequently asked questions)

  1. what a great way to keep everyone up to date, you guys have done an amazing job with your gorgeous family and there are so many people who are feeling for you guys right now. Hopefully the road from here will run smoothly for not only Alyssa, but the rest of your family too.
    xx

  2. hi, i saw your link from the GSDLife Website. My son has GSD 1A and he was diagnosed like your daughter at around 4 days of age. We are doing well. He is 6 years old and has a relatively normal life. If you have any questions, please feel free to ask. Sincerely, Lori Gilbert

  3. June Jenion-Morgan

    Hi Donna, Warren,Tristan, Liam and of course Alyssa,
    Well what a roller coaster of a ride you have all been on, and I might say Colin and I have had you all in our thoughts daily. Alyssa seems like a reall little fighter and I am sure she will grow up to be a very strong individual. Keep up the great parenting – give little Alyssa a big hug and a kiss from Auntie June and Uncle Colin and hope to meet the newest little Seen in person at Xmas.

  4. Kudos to your family for having such a good understanding of GSD in such a short time. We have a 17 year old son with 1A who is being followed by one of the US doctors researching both the extended starch as well as animal models for genetic therapy.
    My only question is you mention milk as her overnight feed. We eliminated dairy, sugar and fruit from our son’s diet at diagnosis. Did you mean milk or soy-based infant formula?
    Best wishes and our advice is multiple alarm clocks, cornstarch therapy as early as tolerable and maintenance of your wonderful outlook. Best wishes, Lynn Nezin

  5. Hi Lynn.

    Our dietitians have Alyssa on expressed breast milk for overnight feeds. If we need to use formula, we will use a soy-based formula.

    Our metabolic specialists follow some of the European thinking in terms of GSD management – that is they don’t believe that strict dietary restrictions are necessary at this stage – at least until the DNA tests are back and we know exactly which mutation we are dealing with.

    They have had success with previous GSD patients here following a regular balanced diet along with cornstarch feedings overnight.

  6. Hi
    You won’t know me, but I used to teach at Port Dalrymple years ago and June Hale was my T.A. She let me know about your beautiful little girl. I hope you don’t mind me checking her page out. She is beautiful and very lucky to have such a great family to care for her!
    My son Noah has a condition called hydranencephaly – the short version of how to explain it is that he is severely physically and mentally disabled because he had a stroke during the second trimester of the preganancy.
    He got a PEG tube in at 5 months old and is now 7. If you ever want to meet or just talk to ask anything, I am more than happy to talk to you. You are obviously used to feeding with a ng tube, so the PEG tube wont be that different. Noah got his done at the LGH.
    Noah has also been in 4k many times, so the place feels like home a bit for us too. I hope things settle down soon and you can all get home. Would love to hear from you if you ever want to talk or ask anything.

  7. Aunty Kathy, Uncle Jim and Bung

    Hi Warren, Donna, Tristan, Liam and Alyssa
    What a fantastic idea and no doubt thought up by Alyssa’s IT competent Daddy to keep us all up-to-date without having to answer the same question over and over again.
    Keep smiling. Our thoughts from the West are with you all the time. Big hugs and kisses.XXX

  8. I think you can blame the idea to get this started on Alyssa’s Mummy actually – but the execution was definitely Daddy’s doing 🙂

    We just knew that it would be easier to share the same information with everyone in one go so people could keep up in their own time and it’s worked very well. I’m just about to go and start adding my journal notes from when we first went to Melbourne. Better late than never.

  9. Hi..and thankyou for all the information, you guys have come such a long way in such a short time. You are obviously full bottle on everything.
    You know me as red_rosepetal….
    I hope Alyssa continues on the right path to health and manageability., thankyou for sharing..

  10. Hi. Sounds like you are doing everything you possibly can for Alyssa. Great idea to keep everyone updated this way. 🙂

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