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The last two and a half years have been marked by a whirlwind of celebrations in the world of SMA. What I consider one of the best possible gifts for families came on December 23, 2016 when, for the first time in its history, the FDA approved SMA treatment, Spinraza (Nusinersen).
In SMA patients, SMN1 the gene is defective and does not produce SMN sufficient protein, Which one is essential for motor function and safeguarding SMN2 gene does not produce enough protein to compensate. Spinraza, designed to enhance the effectiveness of the SMN2 in the production of the functional SMN protein, is administered by injection on a prospective program every four months, after a loading phase and a maintenance phase. It is injected intrathecally – meaning directly into the central nervous system in the lower back.
A lot Spinraza Recipients to have shared generally positive experiences as regards the motor function. Results include improved strength and endurance, sitting, standing and unaided walking, as well as maintaining milestones that would generally be lost with age.
The stories and videos of extraordinary transformations at all ages and for all types of ADMs are numerous and fascinating. Watching babies and kids type 1 move freely – moving at all – actually – muddling the mind.
For me, Spinraza is considered a miracle drug.
Friday, May 24 was an even bigger announcement: the approval by the Food and Drug Administration of Zolgensma (onasemnogene abeparvovec-xioi), a gene therapy for children with any type of AMS, from birth to 2 years. This unique treatment replaces the defective treatment. SMN1 gene with the one that works normally; Therefore, it does not matter that the backup SMN2 the gene is inadequate.
For these youngest patients, the replacement SMN1 The gene (and the viral carrier vector) is administered intravenously. Gene therapy for older and larger patients who will be administered intrathecally, such as Spinraza, is underway. Did I mention that it would be a single procedure?
Zolgensma is another revolutionary development in the world of ADM – and it happened during my lifetime! I do not see words that accurately describe the feeling that I had read and re-read the news of this revolutionary gene therapy. "Overwhelmed" will have to suffice.
Because of these two – two! – incredibly effective treatments, I do not think that families where a member has been diagnosed with ADM since December 2016 are able to imagine life at the old SMA – not that they want it. Well before Spinraza, the amino acid dietand at least some doctors familiar with the ADM, new families have been left in the shock of an undeniable coup a coup sur deux: a diagnosis of something they have never heard of and a prognosis with inconceivable consequences. There was no mention of a cure, a cure or a small amount of hope – not even a suggestion of something on the road.
Morphine, which would lessen the inevitable end of life, was the best doctors had to offer at the time.
As is typical for those with type 1, my son Jeffrey showed very little movement at his strongest (vaguely used term). He badfed from birth, but quickly became tired, then lost his suck and swallow. I was investigating a feeding tube when our "mission" has a nose.
Her scream and cough were still weak. Becoming unable to sit without sucking, lying on a pillow on her mom's lap became the norm. In the end, he had lost his smile, but there was nothing to smile about, in any case, except all the love that surrounded him. He has never lost his sweet disposition nor the ability to communicate with his big and beautiful chocolate-colored eyes.
Our brief stint at SMA was likely quite typical of those of more than 20 years ago. He understood the suction machine and a disastrous experience with a In-Exsufflator (cough machine) which resulted in three episodes of respiratory arrest, a visit to the emergency room, a night in the hospital with BiPAP and the addition of a charming large oxygenator to our decor. The hospice and morphine soon followed. And then it's over.
Today, with the desire to include SMA in neonatal screening, more and more babies diagnosed at birth will quickly receive Zolgensma or start with Spinraza. It is hoped and hoped that with a timely administration of one or the other, ADM signs will never materialize.
NEVER.
I am not sure that families who start with ADM can fully understand the importance of it.
Meanwhile, members of the old school group, whose active ADM duties ended years ago, probably can not wrap their heads – or their hearts – with what is becoming the version "New school" of SMA: diagnosis at birth, immediate treatment, celebration.
Spinraza and Zolgensma are treatments; However, both have already established impressive potential for erasing SMA's reputation as the leading cause of genetic mortality in children under 2 years of age. They also allow people diagnosed later to lead a better life and those who were diagnosed at birth. These commendable achievements deserve to be highlighted. Nobel prize.
This is definitely what dreams of the old school are made of.
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Note: SMA News today is strictly a site of information and information about the disease. He does not bring any medical advice, diagnostic, or treatment. This content is not intended to be a substitute for professional medical advice, diagnostic, or treatment. Always seek advice from your doctor or other qualified health care professional if you have questions about a health problem. Never neglect professional medical advice or be quick to find it because of something you read on this site. The opinions expressed in this column are not those of SMA News Today, or its parent company, BioNews Services, and is intended to spark discussion on spinal muscular atrophy.
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