Treatment options

The Spinraza treatment for Rose is administered in Temple Street.  This is now a journey every 4 months, from Kerry to Dublin for a possible overnight stay and for the treatment to be administered to Rose.  Initially, with Spinraza, Rose needed 4 loading doses.  The first 3 doses were 2 weeks apart and the fourth dose was a month after that.  Spinraza is administered via lumbar puncture.  The loading doses are necessary at the beginning of the Spinraza treatment journey and then after the initial 4 doses, it’s a maintenance dose every 4 months after that, for life. 

There have since been 2 other treatments that have been FDA approved to treat SMA.  The Zolgensma is a once off injection.  Zolgensma is a gene therapy which replaces the missing gene SMN 1.  Risdiplam is an oral drug which works similar to Spinraza in boosting the back up gene SMN 2.   

I would love for SMA to be tested as part of newborn screening, as the earlier it’s detected, the earlier the treatment can start, the better the outcome and the better chance they have of less muscle weakness and a better chance of a normal life before the onset of SMA kicks in.  Rose’s symptoms started at 4 months, she had gone 7 months without treatment and so 7 months of regression.  If it had been in the newborn screening and was picked up, she would have started Spinraza and there is a big possibility her symptoms wouldn’t have developed in the way that they did.

Every time Rose has an injection, she gets a little bit more strength.  Spinraza is keeping the motor neurons alive but any damage that was done is done and it’s not reversible.  At present there is no treatment that will allow Rose to move as fluidly as you or I.  Obviously, it would be great if there was a once off treatment made available that would suit Rose so that all of these trips to Dublin could be finished, the lumbar puncture is invasive, it’s not a treatment that she enjoys. 

Up to now, SMA Type 1 children would not have lived past 2 years.  The general advice on the public system therefore was that physiotherapy was not really recommended, I was told by the public system that all the physiotherapy in the world wouldn’t do Rose any good.  But with Spinraza, Zolgensma and Risdiplam on the scene now, this has changed.  New data has shown that the more physiotherapy and activation that you give these muscles the stronger they become and the stronger they stay.  Because I have seen the benefits first hand with Rose, it is my choice to take her private physiotherapy, simply because the resources aren’t there on the public system to offer the level of physiotherapy treatment a child with this condition needs.  I know if I wasn’t taking Rose for private physiotherapy myself that she would not be where she is today.  I started Rose’s physiotherapy treatment very young, even before I had an official diagnosis of SMA Type 1.  I knew there was something wrong, maybe it was just that she might have been a lazy baby and all she might have needed would be a little bit of physiotherapy so I started in January 2018, Rose wasn’t diagnosed until February 2018.  She has been in private physiotherapy twice a week since then, I bring her to Alan Lyons at Barefoot Physio. 

In my experience, there aren’t really any other therapies available to a child with SMA.  I bring Rose for Craniosacral therapy because I would like to keep everything in her body balanced and to try and keep her as relaxed as possible.  I want to keep her in as tip top shape as I possibly can so that in the future that there may be some breakthrough medicine that could possibly reverse the damage that SMA has done.  At least if Rose is kept in tip top shape and she doesn’t develop any contractures in her joints, she will be able to make best use out of any medicines that may become available that may improve the quality of her life.  With physical therapy, it’s about keeping her muscles as strong as possible and building on that then.  I bring Rose twice a week and this is as much as I can afford. 

We make sacrifices in everyday life to be able to afford this.  I would love to be able to afford to take her more often.  I do my best to do the exercises at home with her but this is hard because she’s my baby, so she doesn’t participate or engage the same way that she does with Alan.  I’m her mom so she associates me with the love and the cuddles and the comforts. 

Physiotherapy isn’t painful for her but it’s very tiring and uncomfortable for her as her muscles aren’t that strong and it’s a continuous strain for her, she’s constantly trying to compensate with different muscles and that’s because it just doesn’t come naturally to her.