'If she gets another chest infection she probably won't make it, that’s the reality'

Nellie and Lara are the only two children in Ireland with Spinal Muscular Atrophy Type 1 – an extremely rare genetic condition.

NELLIE IS 21 months old.

image7 Nellie in Temple Street ICU last June Stephen Lannen Stephen Lannen

Lara is five months old.

sma lara Lara Celine Power Celine Power

They are the only two children in Ireland with Spinal Muscular Atrophy (SMA) Type 1 – a rare genetic condition that causes muscle wasting and issues with breathing, swallowing and movement.

SMA affects approximately one in 10,000 babies. It is the number one genetic cause of death of infants. Type 1 is the most severe form of SMA. It is in the same family as motor neurone disease.

Spinal Muscular Atrophy Support UK notes that SMA is a rare, genetically inherited neuromuscular condition. Type 1 accounts for between 50–70% of cases of childhood onset SMA.

The symptoms of SMA Type 1 usually appear within the first few months of life. In some cases SMA can affect babies before birth and mothers may notice their baby becoming less active towards the end of their pregnancy. Generally, the earlier the onset of symptoms, the more severe the condition.

SMA Type 1 is a life-limiting condition. For the majority of children (approximately 95%) life expectancy is less than 18 months. In general, babies diagnosed within the first few weeks or months of life have a significantly shorter life expectancy.

SMA affects a particular set of nerve cells called the lower motor neurons, which run from the spinal cord to muscles, making it possible for people to move the muscles used to crawl, walk, breathe and swallow.

For these cells to be healthy, people need to produce Survival Motor Neuron (SMN) protein. Our ability to do this is controlled by a gene called SMN1.

SMA is passed from parents to their children through their SMN1 genes. When two people who are carriers have a child together, their child may inherit two faulty SMN1 genes, one from each parent. If this happens, their child will have SMA.

FDA approval

On 23 December, the Food and Drug Administration (FDA) in the US gave the green light to Spinraza (nusinersen), the first drug approved to treat children and adults with SMA.

At the time, the FDA’s Billy Dunn MD said: “There has been a long-standing need for a treatment for spinal muscular atrophy, the most common genetic cause of death in infants, and a disease that can affect people at any stage of life.”

A recent New York Times piece on the drug quotes Biogen, which is licensing Spinraza from Ionis Pharmaceuticals, as saying one dose of the drug will have a list price of $125,000 (about €119,000).

“That means the drug will cost $625,000 (about €594,000) to $750,000 (about €712,000) to cover the five or six doses needed in the first year, and about $375,000 (about €356,000) annually after that, to cover the necessary three doses a year. Patients will presumably take Spinraza for the rest of their lives,” it states.

Trials of Spinraza, which is injected into patients, in countries such as the US and UK have shown positive results. The costs are expected to be similar in Ireland.

The drug is not available here, but Nellie and Lara’s parents say their daughters’ lives depend on getting access to it. Dr Declan O’Rourke, a neurologist at Temple Street Children’s Hospital in Dublin, diagnosed both children.

He notes that Biogen recently announced it was going to roll out the product through an expanded access programme (EAP). This means that SMA Type 1 patients could avail of the drug prior to it getting full approval from the European Medicines Agency, which Biogen applied for in September and could take around 12 months to be granted.

O’Rourke says a meeting between the National Centre for Pharmacoeconomics (NCPE), which assesses the cost-effectiveness of drugs for the Health Service Executive (HSE), and Biogen to discuss facilitating access to Spinraza for children with SMA in Ireland needs to happen as soon as possible.

“At least one patient in the UK has started receiving the drug through this EAP. Some negotiations need to happen between the company and the regulatory authorities before Irish patients can receive it in this manner,” O’Rourke states.

Professor Michael Barry, Director of the NCPE, told no meeting with Biogen is planned at present, but this “may change”.

Nellie’s story 

image1 Nellie in the park wearing her BiPAP breathing machine Stephen Lannen Stephen Lannen

Stephen Lannen and his wife Brigitta provide round-the-clock care for Nellie, with some home care help. She was born in the Czech Republic in 2015 but the family moved home once she became ill.

Stephen tells he and Brigitta noticed that Nellie didn’t move as much as other children her age when she was a few months old, but ”didn’t know what was wrong”.

She was diagnosed with SMA Type 1 at Temple Street when she was seven months old.

Nellie was hospitalised for several weeks at a time on two occasions in 2016 due to infections. She cannot fight them off as well as a healthy infant.

image5 Brigitta, Stephen and Nellie on Christmas Day Stephen Lannen Stephen Lannen

“After she has an infection and has to go to hospital she comes out a lot weaker. She’s fairly compromised from a breathing and swallowing perspective,” Stephen explains.

“Having a bad infection could kill a child like Nellie.

“She’s on a BiPAP breathing machine about 20 hours a day. She can take breaks, but she starts to struggle after about two hours and has to go back on.

If she gets another chest infection she probably won’t make it, that’s the reality.

Stephen says he and Brigitta had hoped Nellie could be treated on one of the Spinraza trials but she was just over the seven month age limit at the time.

“It’s like a very rare form of motor neurone disease in a really young kid that has happened very fast.

We were initially told Nellie wouldn’t live past the age of two, she’ll be two in March. We’re looking for something that could give us a little bit of hope, is that too much to ask?

“She’s incredibly uncomfortable all the time … Our big hope is to get her off the breathing machine and get her lung function working a little better.

“If her condition improved she might be able to be peg fed in her tummy, rather than through her nose, which would make a big difference. She’ll always be severely disabled but could survive if she gets access to the drug,” Stephen says.

Lara’s story 

15823501_250285765402784_5197813321572479156_n Lara Celine Power Celine Power

Lara was just shy of six weeks old when she was diagnosed with SMA Type 1 at a routine appointment at Temple Street.

Her parents, Niall McHugh and Celine Power, didn’t think anything was wrong.

“We’d never heard of SMA … She’s our first child. She was five weeks old, we didn’t really expect too much movement, there was some in her legs.

“She doesn’t have a lot of movement in her arms or legs, but from the ankles down she wriggles a bit. She can’t hold her head up or sit, but she’s still feeding well.

“She still smiles, she still laughs, she still cries.”

Screenshot_20170105-140612 Niall, Celine and Lara Celine Power Celine Power

A few weeks before Christmas, the family brought home a BiPAP breathing machine from Temple Street to help clear fluid on her lungs. Lara isn’t reliant on it yet, but wears it at night so she can get used to it.

“It’s not very comfortable, she doesn’t like it.

The first night we put it on, all three of us – myself, Celine and Lara – were all crying. To look at your baby daughter in a cot hooked up to this machine, it’s not what you expect life to be.

“Celine had the perfect pregnancy, she went into labour on her due date and gave birth after three hours,” Niall tells us.

20170105_132336(0) Lara Celine Power Celine Power

Niall says access to the drug is “the difference between life and death for Lara, she could die in a couple of months”.

He says he and Celine are aware that many babies diagnosed around the five to six week mark “usually only live to six to seven months”.

We’re very aware that any infection in the next couple of weeks could literally be it. She could only have one or two months.

Niall says Spinraza could give her a second chance at life.

“She could survive. It might mean she’ll never need the breathing machine or feeding tube. She may actually go on to walk.”

‘They could die in the next couple of months’

Both families live in Dublin and say they would consider moving abroad if the drug doesn’t become available here. However, Niall notes, this isn’t straightforward.

“How do we even afford to move abroad?,” he says.

“It’s not just a case of flying over to Newcastle to get it over there,” he explains, citing lack of availability of the treatment.

20170105_140934 Celine Power Celine Power

Given the high cost, Niall is worried the drug may not be deemed cost-effective in Ireland. He reiterates that time is of the essence for Lara and Nellie.

Ideally, he says, all children with SMA should have access to treatment but, given the severity of their condition, children with Type 1 need immediate access.

“We don’t have time for the HSE and the NCPE to go back and forth negotiating with Biogen. These two babies don’t have that time, they could die in the next couple of months.”

‘Time is of the essence’ 

O’Rourke says negotiations to make Spinraza available here need to happen as soon as possible.

A spokesperson for the HSE told “The HSE is aware that Biogen have applied to the European Medicines Agency (EMA) for market authorisation in the EU. The HSE understands that application to EMA was submitted in September/October. EMA assessment processes generally take around one year.

“When or if a European market authorisation is granted or about to be granted the HSE would expect to receive a pricing and reimbursement application from Biogen. It is unlikely that the HSE will receive a pricing and reimbursement application until later this year.”

A spokesperson for Biogen said the company hopes it will get formal European approval for Spinraza by mid-2017, and then begin negotiations with the NCPE.

O’Rourke notes: “This is the first product that has shown meaningful clinical effects for patients with SMA Type 1.

It is shown to be safe and helps children achieve motor milestones – some children gain the ability to roll, sit and walk in some instances.

O’Rourke says Spinraza also reduces reliance on ventilation support.

“The earlier the drug is administered the better. Time is of the essence here for this.”

He says there are more than 30 children in Ireland with various types of SMA. The majority of children who present with the condition have Type 1, but usually don’t live beyond the age of two years.

image4 A rare photo of Nellie sleeping without her breathing machine Stephen Lannen Stephen Lannen

He says, given their “extremely fragile” state, transporting babies like Nellie and Lara to another country to get treatment is “unthinkable”.

“In Ireland, perhaps compared to some other countries, there can of be a bit of a protracted course from the time a drug becomes available to the time it reaches a patient. Too often there is delay at drug regulatory level.

I’m hoping and asking that negotiations between the pharmaceutical company and regulatory authority occur in a swift manner. It is my understanding talks will happen soon.

O’Rourke is also worried the high price of the drug may lead to it not being deemed cost-effective.

“The cost is an issue that needs to be worked out and negotiated between the company and the NCPE. Many products like this come at an extremely expensive cost. I’m concerned it will result in a delay.

“From a hospital point of view, we are ready to go on this and supportive of our two patients getting it.”

More information on the condition can be found via the Cure SMA Ireland Facebook page or via the National Centre for Medical Genetics

A petition calling for the EMA to approve Spinraza can be signed here

Read: This woman is fighting for her life and access to a medication that could help

Read: ‘This is a huge scandal’: Children with scoliosis deteriorating as waiting lists worsen

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