Stella was born with Type 2 Gaucher Disease. She was diagnosed at six months of age. She is now two and a half years old and continues to fight this uphill battle every day. Since October, her neurological symptoms have increased significantly.
Shortly after her second birthday, she was no longer able to hold her head up on her own or sit in her chair like she was able to before. She was also put on some new medications for comfort that made her pretty tired, and she was sleeping most of the day and night. We tried to adjust them slightly, so she could be awake a little more, but we quickly found that she was more comfortable with the extra medications.
We decided that as long as Stella was comfortable, it was okay if she slept a lot. We have been able to keep her home and out of the hospital also, which was a goal of ours, but it has required us to be in constant contact with her doctors via phone and email for medication adjustments. Right now our biggest issue is her comfort.
She has these seizure-like episodes anytime she’s awake, and we are finding it difficult to keep her comfortable and pain-free. We are looking into some other options for pain management and possibly some new medications or medication adjustments to help make her more comfortable. We are praying something works because it is very difficult to watch her suffer like this daily. Our main goal from day one has always been keeping her as comfortable as possible, and we are hopeful that we can achieve that.
We have had some nicer weather here the last few weeks, so we have taken this opportunity to get Stella outside to enjoy the fresh air. We got her a new wheelchair-type stroller a few months ago, and it is great because it can hold her vent, oxygen, suction machine and feeding pump. So everything is right there where she is. It is very convenient. We are hopeful that this summer will be a great one for memories and comfortable times for Stella. She continues to fight and so will we.