Westmeath family battles for drug Toby needs to treat rare condition
A Mullingar mother is making an urgent appeal for access to a life-saving drug for her seven-week-old son, Toby, who has been diagnosed with a rare and complex metabolic disorder.
Lucy Gavin spoke about the impact of Toby’s condition and the repeated hospitalisations he has endured since birth. Toby has been diagnosed with Propionic Acidemia (PA), a rare genetic disorder that prevents the body from breaking down certain proteins. The resulting build-up of ammonia in the bloodstream can cause irreversible brain damage if not treated quickly.
“From birth, Toby was unwell. On the fifth day of his life, he was brought to Temple Street Children’s Hospital, where he was admitted to ICU and eventually diagnosed with Propionic Acidemia,” Lucy said.
Since his diagnosis, “we’ve only lasted five days at home at a time. Every time his ammonia spikes, it’s a medical emergency and we have to go into hospital with Toby.”
Lucy says the only drug that can reduce Toby’s ammonia levels rapidly is Carbaglu (carbaglumic acid), but the HSE does not currently reimburse the use of the drug.
“Toby’s condition at the moment is unstable and he will need a liver transplant at some stage, but in the meantime this medication is bridging the gap to keep us at home. Otherwise, we’re going to be in hospital every week for probably four or five days and you’re running the risk of causing brain damage every time.”
Lucy said Toby’s consultant at Temple Street has prescribed Carbaglu and supports its use at home. In a letter appealing to the HSE the consultant said Carbaglu is essential to Toby’s care.
The medication costs €4,000 a month.
“Temple Street has a supply of it for now,” Lucy said, “but the hospital is paying out of their funds, which is not sustainable.”
She described the care team at Temple Street as “amazing” and said the consultant is seeking compassionate access from the drug manufacturers. Lucy said that approach “offers no guarantees”.
In a statement to the Westmeath Examiner, the HSE confirmed that the Primary Care Reimbursement Service (PCRS) is engaging with the prescribing consultant and is committed to “providing access to as many medicines as possible, in as timely a fashion as possible, from the resources available”.
The HSE outlined that decisions on reimbursement are made “on objective, scientific and economic grounds” in accordance with the Health Pricing and Supply of Medical Goods Act 2013. It stated that no application for reimbursement of Carbaglu has been submitted by the Marketing Authorisation Holder, Recordati. Lucy remains determined to fight for access to the medication that could keep Toby safe at home and out of intensive care.
A GoFundMe page has been set up by relatives and friends to help with medical, travel and other costs – search for: help-toby-on-his-battle-with-propionic-acidemia.