Treatment for Helena!!!!


Well finally it’s here, the day we’ve fought for pretty much since Helena’s diagnosis and not a day too soon! Helena has been accepted14046159_929477066210_7052296927536786456_n to receive treatment with Spinraza (the brand name for Nusinersen).

We didn’t want to update with this information until we knew that Helena would definitely receive treatment because we’ve built our hopes up many times before only for them to amount to nothing. But on 20th February 2017 – Helena’s 2nd birthday – she will finally receive her first dose of treatment. Helena’s birthday was always going to be a special event because type 1’s are normally predicted on any website in which you google the condition, not to live to 2 years of age, and here’s Helena defying the odds and proving them all wrong! But now, it shall be special for 2 reasons.

Unfortunately treatment is still not available within the UK for Helena, there are simply no options here for her at present, much to our frustration! However we took Helena abroad to France for assessment and they have agreed to treat her there until such a time that she can be transferred back to the UK to continue receiving treatment here. We are incredibly fortunate to have this opportunity and it is only thanks to Helena’s strength and current health, allowing her the option to travel and our amazing fundraisers and supporters that we can even consider it as an option.

So, what will treatment involve? Well, we shall be travelling to France the night before Helena’s procedure and staying in a hotel near to the hospital. On the day Helena will have to fast for 6 hours prior to the injecti16681771_990887219770_3074509919981199076_non. We have to take Helena to the hospital in the morning and she will have some initial blood tests carried out. A couple of hours later, once the blood results are received she will have a numbing cream put into her back where the lumbar region of her spine is and then be taken for her procedure, we will not be able to accompany her while she has it done. Helena will be awake for the duration of the drug administration. The doctors and staff there will hold her in position while they administer a small injection of local anesthetic at the area of her spine where the lumbar puncture will be performed. Once this local anaesthetic is working they will then perform a lumbar puncture and take a small sample of her spinal fluid and then inject the drug into her spinal fluid. Following the procedure she will be returned to us and will have to lay flat for 1 hour. After this she will be able to eat and drink again and 3 hours following, assuming that they are happy with her, we will be discharged from the hospital.

This injection will then be repeated a 2nd time 2 weeks after the initial dose, and then a 3rd time 2 weeks after the 2nd dose. The 4th dose will take place 30 days after the 3rd dose and then the loading doses will have been completed. The continuing maintenance doses will be administered then approximately every 4 months for life – or until something better comes along that means it’s no longer required.

We are obvioHoobedoobsusly excited and overwhelmed by the prospect of treatment for Helena, but at the same time understandably nervous and apprehensive. When we travelling to France for Helena’s initial consultation we found it to be quite an exhausting experience, so  going back and forth with such frequency will I’m sure take it’s toll on both us and Helena. But we can’t be thankful enough for the fact that Helena will now finally be receiving treatment.

As for what we can expect from the drug, well only time will tell this. Helena’s consultant has warned that perhaps the most we can expect, since Helena has now had SMA for 2 years untreated is stability, though even just that thought is amazing, because the fear of her prognosis of steady decline is terrifying. However, every child with SMA is different, so the only way we will really know what the effects of Spinraza will be on Helena is to watch this space. Now 1 treatment has been approved for SMA, undoubtedly others will follow, there are many promising treatments already in the pipeline and many adaptive technologies and devices that are changing the course of SMA all the time. It’s not based on any scientific facts, but I’ve got a sneaky s14639681_960342561510_3695920656445267128_nuspicion Helena’s going to surprise us.

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