This is what we've been patiently/impatiently waiting for. This is a drug that Casey can take via g-tube. It targets SMN 2 levels in SMA patients which is kind of like a back up for what those with SMA are missing/or mutated. It works to boost the level so that the cells can do the job that they are supposed to do in the body. This is not a cure. Casey will not miraculously be able to do all the the things that SMA has robbed him of, that most people take for granted, but it may keep his body from weakening even more, and we hope that he may gain a tiny bit of movement back. We will have to see how he responds to it.
You may remember that Casey was previously on Spinraza, which was the first ever FDA approved treatment for SMA. That works in a similar way to Risdiplam but Spinraza must be given via lumbar puncture every four months. Casey didn't have an easy time with Spinraza. There's blood work needed before each dose, then had to receive his dose under anesthesia. Not a fun, quick or easy process. Then repeat every 4 months. Casey's last dose was in December. He was due for his next dose in April. Because of Covid it was delayed some and then he, himself, said he didn't want to continue anymore. It was too stressful and we didn't see much improvement. Initially his heart rate went to a more normal level and that was huge for him. But not much improvement in movement at all. As a matter of fact, during this treatment time he lost the use of his right thumb. That was devastating. He used that thumb for accessing his device. Now he uses a switch on a pair of glasses to access the device by blinking/moving his eyebrows. I would just about do anything for him to be able to use his thumb again.
So we have hope with this FDA approval. Many of Casey's peers are already on this drug as they applied through an early access/compassionate use program. Our hospital was not set up to do this so there was no way Casey was going to get early access. I just hope that our doc will do what he needs to do to get this going for Casey ASAP.
Just FYI, this is actually the 3rd FDA approved treatment for SMA, The second was gene therapy/Zolgensma which is AMAZING but it's only for kids under 2. Zolgensma is changing EVERYthing for these babies. And with SMA getting on newborn screening in 32 states now, so many babies will be helped before they lose their strength. These babies will be able to get treated even before signs of SMA show up so they will have a super good chance to hit all milestones and BEAT SMA's butt.
Here are a couple of links on Risdiplam.
THANK you everyone who has ever helped us with a fundraiser or donated or said prayers for a cure. You all have had a part in this coming to fruition!!
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