Reader’s letter: comments on “Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells”

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
C Angelozzi, F Borgo, F D Tiziano, A Martella, G Neri, C Brahe

J Med Genet 2008; 45: 29-31

eLetter ID: jmedgenet_el;2828
Article ID: 45/1/29
Article Date: 1 January 2008

http://jmg.bmj.com/content/early/2007/10/11/jmg.2007.051177

I just read the articles on SMA1, SMA2, SMA3. I felt it important to tell you of my son, born 1/26/70. When I took him to his first checkup at 3 months old, I voiced my concern for his floppy head. Again at 6 months old, when he couldn’t sit up, roll over, kick against resistance. Finally, the Pediatrician agreed to get an appointment with Yale Hospital in CT at 8 mos. The biopsy was shown to be SMA 1. We weren’t given any chance of survival. He was subsequently re-diagnosed at 3 years old, and again the results were, SMA1. He is now 46 years old. Graduated UCONN with honors and is still living in Litchfield CT. He is not on a ventilator but uses a bi-pap, 6 to 8% lung capacity. We have been told over and over there is no medication and there is no trials he could be involved with. However, with the social media being his way to communicate with the mass population he has discovered the Salbutamol available now through a client with SMA2. She has given us hope that this new drug will give him even the slightest increase in strength to keep the two fingers he uses to control his fiber optic wheelchair. Unfortunately it’s too expensive. It is heartbreaking to come so close to possibly gaining enough strength to stay mobile. If there is any possible way he could be helpful to your programs via computer please let us know.

Respectfully, June Lajoie Strada

junestrada@hotmail.com

Conflict of Interest:

None declared

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