The mother of a sick baby has said her family feels they are “just surviving” after the HSE declined to pay for €48,000 annual cost of their son's medication. 

Lucy Gavin’s son, Toby, was born eight weeks ago and the family quickly realised that something was not quite right with him. 

Toby began to miss normal milestones and “just in general wasn’t right”. 

After they thought he was having a seizure, they brought him to Temple Street Children’s Hospital and he was placed in intensive care. 

“They knew there was something seriously wrong, based on his bloods and how unresponsive he was,” Ms Gavin told Lunchtime Live. 

At first, doctors were unsure what was wrong with them and ran a number of tests. 

It turned out that Toby has propionic acidemia, a highly rare condition which impacts one in every 150,000 people. 

“With propionic acidemia, the body can’t break down four amino acids in protein,” Ms Gavin explained.  

“So, these amino acids then build up in the body and become toxic to the body.

“So, that’s where we had presented to Toby initially; the toxin level had reached a really, really high level and he had gone into a semicomatose state.” 

Toby and his family. Image: Supplied.

After several hospital stays, Toby’s parents were given a 10 day supply of a drug called CARBAGLU (carglumic acid) - which is used to treat people who have high blood ammonia levels. 

However, there was a catch. 

“In Ireland, in order for drugs to be reimbursed, they go through rigorous testing,” Ms Gavin said. 

“In terms of the economic aspect, the effectiveness aspect - basically, is this drug worth approving?” 

Lucy Gavin and Toby. Image: Supplied.

Toby’s doctor wrote to the HSE’s PCRS, asking for the family to be reimbursed under the Drug Payments Scheme. 

However, they replied that the drug is not on their current list of approved medication. 

Since then, Toby has been hospitalised once again where he is given the medication he needs. 

“The sense of security for me is that while he’s here, he’s getting the drug three times a day,” Ms Gavin said. 

“Just because a drug is expensive and rare, my argument is why was it declined initially? 

“I know it’s expensive but I imagine the cost of us being here, say six out of seven weeks, is more expensive than the drug.” 

Toby and his older sister. Image: Supplied.

Without HSE reimbursement, the family will have to pay €4,000 every month for CARBAGLU and has set up a GoFundMe to help them with the cost of Toby’s medical care.

Doctors have said that at some point he will need a liver transplant in London and are exploring the possibility of entering him into a clinical trial in Manchester.

In a statement to Newstalk, a spokesperson for the HSE said that "the Pharmacist team within the HSE's Primary Care Reimbursement Service (PCRS) are engaging with the prescribing Consultant on this matter." 

"The HSE is committed to providing access to as many medicines as possible, in as timely a fashion as possible, from the resources provided to it," the spokesperson said. 

"The HSE robustly assesses applications for pricing and reimbursement to make sure that it can stretch available resources as far as possible and to deliver the best value in relation to each medicine and, ultimately, more medicines to Irish citizens and patients."

Main image: Lucy Gavin and her son Toby. Image: Supplied.