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ID 16919

A Personal Story of the Progression of SMA in a Toddler

Description:
Esther and Frank describe their 2 year old daughter Maeveā€™s progression since diagnosis.
Transcript:
Frank: She developed a cough in October and slowly but surely the cough got worse and she developed or she struggled more with food intake. So the drop-off was very quick. She failed a swallow study that we had scheduled. She was admitted to the emergency room that day for failure to thrive for a need for an IV for liquids because she was dehydrated. Not only failing to thrive, but she was also dehydrated, which is very, very serious for an SMA child. So it was decision time on what to do and we decided that this was the point where she should actually have a G-tube, a gastronomy tube procedure performed so that she can get proper nutrition and proper hydration. But then she developed aspiration pneumonia while in the hospital and she suffered severe respiratory distress while waiting for this procedure. So she was intubated for a period of time and had the procedure. And she did -- it was a tough few weeks before she got strong enough to be extubated and what it miraculously turned out very well for her and it -- she got strong enough for us to start thinking about taking her home. And that was a whole process in itself of trying to get because she does have nursing needs, she does have -- she now had new equipment needs. She was now using a BiPAP machine to help her lungs expand while she's resting, when she's asleep. And she also had new nutritional needs and new treatment needs and that whole process of bringing your child home is quite laborious for SMA. But we got there and after 58 days in the ICU, we came home in January of 2011 and she's done quite well since. You know, she'd been back to the hospital a couple of times for what we would call minor respiratory distress, but again she's got stronger and we've learned to cope with it better at home. She has wonderful nursing and she has now stepped up on her therapies. She has physical therapy five times a week, speech therapy three times a week, occupational therapy three times a week. She has a myriad of adaptive equipments, which helps her posture. And she's still showing great signs of strength. It is a progressive disease so we don't know at what point she will reach a plateau. Esther: We thought she had actually reached that plateau. You know, it was amazing that, you know, when she was having the difficulties eating, we thought okay, now she's reached it, now we've come to that point that we were warned about. But then at the same time, you know, she started progressing or improving in certain ways. You know, her arm movement I have to say during the hospital there was physical therapy, we were like very excited how well she was doing. And then even since she's been home from the hospital, she had actually developed an ability to sit, you know, for a short period of time and she wasn't doing that before. So it's like we had reached a plateau and then go a little better, maybe we've reached another plateau. And then there are certain things that she's not doing as well, you know. Progression in her speech, relative progression of her gross motor skills, we've just been really pleasantly surprised at how well she's been able to develop speech and I know you were talking about how she can count and say letters. And it's so, so amazing because of her inability to eat and we understand about the connection between eating and speech, you know, it's all interrelated. And, you know, since she's unable to eat by mouth, we're just happy that with the therapies and with us constantly talking to her and using some techniques, you know, some facial massage that she is able to develop speech. Frank: Yeah. There's definitely a lot of talk in this house.
Keywords:
Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Type 1, Type I, Type 2, Type II, neurodegenerative, complication, respiratory, skeletal, scoliosis, pneumonia nutrition, pneumonia, surgery, brace, physical therapy, occupational therapy, pulmonologist, gastrointestinal, gastronomy, Coffey, immunization, G-tube, BiPAP machine, speech therapy, posture, intubate, extubate
Downloads:
Creative Commons License This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.

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