A Mullingar family is appealing for the Health Service Executive (HSE) to supply their newborn baby boy with a life-saving drug. Little Toby Gavin, who was born just seven weeks ago, was diagnosed with Propionic Acidaemia (PA), a rare inherited metabolic disorder.

Currently, Toby’s parents are locked in a battle with the HSE to supply Toby with a drug for treatment called carglumic acid. They told Gript that they fear their little boy will be left with brain damage if the €4,000 a month drug is not made available for use at home.

The lifelong and life-threatening condition affects the protein pathway, impacting the heart, brain, and bone marrow. If approved, the family says the drug, which is not currently available for reimbursement on the HSE, would keep Toby stable at home while long-term treatment options are considered.

 The main complications associated with propionic acidaemia include recurrent episodes of metabolic decompensation with illness or fasting, cardiomyopathy, movement disorders, bone marrow suppression, and recurrent pancreatitis.

While a short-term supply of the rare drug was provided by Toby’s care team to bring home on his last admission, an application to the HSE Primary Care and Reimbursement Service to allow Toby access to the drug at home was refused, with a letter seen by Gript referencing the cost of the drug.

“We are highlighting Toby’s story as we are basically trying to get a foot in the door,” Lucy told Gript. “We are hoping that by raising awareness, we might be able to change this decision, and get Toby this amazing drug, which he so badly needs.”

“With the condition being so rare, what Temple Street have told us that there is a roughly one in 150,000 chance of having this condition. The reason the HSE is not willing to put this drug on the reimbursement scheme is because it’s such a rare condition and such a rare drug. But to us, it’s really just pure discrimination because it’s not a common condition. It’s not a common drug, and so they don’t think it’s important.

“The Government spent more than €300,000 on a bike shelter. It would have needed to have been made out of gold to justify the cost, but eyelids weren’t even batted. And yet, my child’s medication is such a problem; the HSE won’t fund life-saving medication for a small baby who needs it. It would really make you question their priorities,” Lucy said.

Propionic Acidaemia (PA) occurs when the body can’t properly break down protein.

“The way it was explained to us in the hospital initially was that in one block of protein, there are 19 building blocks. There are four certain building blocks that Toby is unable to break down, which means that when he takes in protein, the blocks build up in his body and they become toxic. The toxin that comes from the building blocks is called ammonia, which is really the worst toxin in the body because it can cause brain damage, along with seizures and potentially comas. The problem with PA is that the person suffering is so vulnerable, that if they have anything such as a minor illness or infection, the level of ammonia starts to rise.” Lucy added.

“Obviously, it follows that the more the ammonia rises, the more chance that brain damage may occur. If the person affected is well, things can be fine, but if they keep experiencing these episodes, for which the medical term is a crisis, the question is: How many times can their body keep going through the episode of potentially getting damaged?”

Lucy says that the family have been fortunate in that, over the last month, Toby has been in hospital when his ammonia levels have risen. However, the family are concerned given that they have been told that Toby’s condition is serious, and medication will be needed on a longer-term basis.

“It has been caught at under the 100 mark. Any level over 150, unfortunately then you’re talking brain damage. The medication which we are fighting for is the drug that we are given when we bring Toby into hospital. One dose of this medication can bring his ammonia from 127 right down to 30 – in one dose alone; that’s how effective it is. The consultant has told us that because Toby is on the rarer side of the PA spectrum, this medication as a long-term use would be really crucial, in order to make sure he doesn’t keep going into crisis.”

“When I say long-term, we are talking about really around a period of a year, because he is going to need a liver transplant. Out of the seven weeks of Toby’s life, he’s only been home for 12 days. We have been told by a consultant that the cases of PA which she has looked after have been on the milder scale of the spectrum, whereas Toby’s condition is more on the severe end, and it’s a situation where anything quite minor would have the potential to spike his ammonia levels,” Toby’s mum added.

‘HUGE STRAIN’

Lucy and her husband, Niall, are currently alternating between long nights at the hospital and carrying out the bed-time routine at home with their little girl, Ivy, who is just two years old.

“Myself and my husband have been told by the specialist that unless we get this medication for the first year of his life, we will constantly be in a state of being one week at home, the next week spent in hospital, and repeat. There’s no other way to do it, and it would place a huge strain on us, especially with our little girl at home, who is only two-years-old.”

“I was at home last night, and when I was putting her to bed, she was crying looking for her daddy and her little brother. How do you explain things to a 2-year-old?”

Currently, the family has been given a supply of the drug, but they are worried about what the near future looks like. The drug costs €4,000 a month, and securing it would also mean that Toby would be able to stay out of hospital and return home.

“At the moment, we have been given a supply for ten days from the hospital. However, our consultant has explained to us that Temple Street are not reimbursed for the cost of this drug; they are paying for it for Toby out of their own pockets at the moment. The situation is that whilst Toby is an inpatient and is admitted to hospital, he will get the drug. However, we have been warned by the consultant that once Toby goes home, they are not sure how much more of a supply the hospital will be willing to give us.”

A letter seen by Gript shows that the application for the drug was “refused on clinical, economic, and budget impact grounds.”

“This is about money,” Lucy added. “Despite strong clinical evidence and support from Toby’s healthcare team, it is still being declined. In addition, my pharmacy had written a strong email which was sent to the HSE, and they had said that ‘We understand that the monthly cost is approximately €4,000 – it is significant. But the cost must be weighed against a reduction in hospital admissions, including intensive care admissions, the improved safety and quality of Toby’s life at home, and the financial and emotional toll on Toby’s family when frequent hospitalisations are required.” 

“To put things into perspective, Toby is only seven weeks old, and he’s already had one ICU submission, which lasted for more than a week. In the past four weeks of Toby’s life, we have had four hospital admissions due to high ammonia.  I don’t know how much that costs, but I imagine it’s expensive. “

‘BLOWN AWAY’

Lucy says she and her husband have been “blown away” by the level of support received in the last few days since sharing their story.

“We haven’t been able to get over the support. We’re from Mullungar, and literally every single person I know in Mullingar had shared the post we put up on Friday night. We have had a few well-known people online share it. 

“We’ve had very good support, with friends of ours emailing influencers and the likes to ask them to share and spread the word. One local TD has reached out to say that he will hopefully get talking to somebody on Monday about Toby’s case, but we just have to keep highlighting this until it is followed through. We can’t take our foot off the pedal at the moment.”

Lucy told Gript that her son will eventually need a liver transplant, for which the process has been started. However, she says this would not be carried out in Ireland, meaning the family face the prospect of frequent travel and long stays in London. According to the family, another option currently being explored is clinical trial MRNA therapy based in Manchester. Both treatment options are not only time-consuming but costly.

Lucy’s mum, Sarah, has set up a GoFundMe page, where the family say more can be learned about their story.

The HSE has been contacted for comment.