Daniel Patterson has a rare genetic immunodeficiency condition.
Daniel Patterson has a rare genetic immunodeficiency condition.
Daniel Patterson is supposed to be travelling to Italy for a lifesaving bone marrow transplant.
Instead, the 16-year-old from Tauranga is still in New Zealand and facing challenge after challenge.
Daniel was born with Wiskott-Aldrich Syndrome (WAS) – a rare genetic immunodeficiency that prevents his immune system from functioning properly, his father Neil Patterson told SunLive.
“This means it’s difficult for Daniel’s bone marrow to produce platelets, making him susceptible to internal bleeding.
“[Doctors] were going to do a bone marrow transplant when he was a baby, but there wasn’t a suitable match,” he said.
The transplant risk at that stage was also too high.
After Daniel experienced severe stomach problems, ulcerative colitis and intense leg pains and all options in New Zealand were exhausted, Patterson and Daniel’s mum, Apple, decided to take him to Thailand.
In Thailand, doctors diagnosed his leg problems as lupus vasculitis.
Daniel now required a stem cell transplant before the condition attacked his organs and caused irreparable damage, Patterson said.
Initially, the plan was for Daniel to get a bone marrow transplant in Italy, where they would then be based for six months to a year.
In a video call with Italian specialists in April, they were told Daniel would either have a stem cell transplant using bone marrow from Patterson, a suitable donor or by gene therapy using his own bone marrow – the latter still being under trial.
The cost of the transplant plus outpatient medication would be about $541,000.
This huge financial undertaking meant they remortgaged their house.
“We’ll sell one of our cars, and Apple’s borrowed money from the family, then we’ll use some of our savings but that’s just some of the costs,” Patterson said in April.
A GiveaLittle page has been running since April 4 and will end on October 4. The fundraising goal is set for $250,000 and they have raised $8560 so far.
Daniel with his dad, Neil.
Gene therapy
Recently, the family has learnt more about the treatment called gene therapy.
“The standard bone marrow transplants mean using a donor and the only suitable one is me, which is not a complete match,” Patterson said.
“This type of transplant is risky for his age and not having a complete match.
“Gene therapy uses his own bone marrow which means no graft v host disease and lower dose of chemotherapy.”
He said gene therapy might not completely fix all his problems, but results had been good so far and the specialists from Germany and Italy recommended it as a very good option.
Gene therapy comes at a massive cost of $2 million, said Patterson. This is putting a huge amount of financial stress on the family who have managed to gather together $450,000 after remortgaging their house, plus $8725 from the GiveaLittle page.
“If it [gene therapy] doesn’t work, he can still do the normal transplant, but if he did the normal transplant first and it doesn’t work, nothing else can be done.”
Daniel’s specialists in Italy, Dr Alessandro Aiuti and Dr Francesca Ferrua, said in an email they had been made aware of the funding being declined and were disappointed.
“We really hope to find an alternative way for gene therapy.”
Patterson said they were still going to do the transplant in Italy whether it be gene therapy or a normal transplant.
“All doctors agree that it should happen this year.”
Daniel Patterson and his mum Apple Patterson in hospital in Tauranga.
Another roadblock
However, there was still one barrier preventing Daniel from getting this life-saving treatment – his wisdom teeth.
“We just found out a while ago that Daniel has impacted wisdom teeth, so they must be removed to prevent any infection during transplant.
“Daniel has to have his wisdom teeth removed plus the molars next to them so eight teeth.”
Patterson said the Italian specialist contacted Daniel’s haematologist with a plan on how best to do this because he would need a platelets transfusion – too many transfusions are not good before a transplant – and other methods to prevent bleeding.
These eight teeth are to be removed on October 15 where Daniel will have to spend a couple of days in hospital due to his low immune system. This is also because Daniel has low platelets which means bleeding would be a serious problem.
Patterson said Daniel has around 6000 platelets while the normal amount is between 150,000 and 400,000. He said the surgeons have been considering a platelet transfusion.
“The reason they really want to avoid a platelets transfusion is too many transfusions create antibodies that have an adverse effect on the upcoming transplant,” said Patterson.
“We acknowledge how challenging it can be for patients and whānau to negotiate different parts of the healthcare system and we do our best to help them through this where we can,” says Health New Zealand Te Whatu Ora national clinical director primary & community care, commissioning Sarah Clarke.
“A rare disorder by definition affects very few people. Because of their rarity, these disorders are often not easy to diagnose or to treat, especially where they are complex in nature, or associated with other related conditions.
“It’s important to improve the health system’s ability to provide appropriate care for these patients and their whānau. In total, there may be as many as 300,000 New Zealanders living with a rare disorder.
“In recognition of the challenges posed by rare disorders, the Ministry of Health recently published New Zealand’s first ever Aotearoa New Zealand Rare Disorders Strategy.
“This strategy sets out the direction for the health system to better support people and their whānau living with rare disorders.
“It provides a framework and long-term priorities that will guide health entities in improving health and wellbeing outcomes for people and their whānau with rare disorders over the decade 2024 to 2034.
“Health New Zealand | Te Whatu Ora looks forward to contributing to the strategy’s implementation over time, within available resources.”
