Daniela's Journey with Type 1 SMA

Daniela's Journey with Type 1 SMA Contact information, map and directions, contact form, opening hours, services, ratings, photos, videos and announcements from Daniela's Journey with Type 1 SMA, Medical and health, Ontario, NY.

Type 1 SMA (2 SMN2)
Born 4/14/25 @ 37 Weeks
Evrysdi 4/16/25 - present
Zolgensma 7/9/25 Asymptomatic
CHOP: 64 1/2026
EMG: Normal Neurofilament Normal
Our goal is to help other families navigate this disease and share the joy of Danielas life.

Christmas coming soon ! That smile is everything !!!
12/05/2025

Christmas coming soon ! That smile is everything !!!

10/04/2025

Getting ready to move!!

Daniela is just under 2 weeks away from 6 months old. She is getting so strong and attentive to everything and everyone around her. We are so thankful to see her doing so well.

All of her follow ups have gone very well.

Her liver enzymes are back in the normal range so she is almost done with oral steroids!!

Daniela is growing up like its 1999! she loves being outside and seeing nature. This week she saw her first butterfly up...
10/04/2025

Daniela is growing up like its 1999! she loves being outside and seeing nature. This week she saw her first butterfly up close!

Baby Daniela update September 2025!!Daniela continues to improve and is growing so strong. We have continued to get week...
09/07/2025

Baby Daniela update September 2025!!
Daniela continues to improve and is growing so strong.
We have continued to get weekly or bi weekly bloodwork due to elevated liver enzymes as a result of her gene therapy. These will subside in time but her risk of infection is higher due to her steroids.
Daniela has now maxed out her CHOP intend score for children affected by SMA. (This Is amazing news). She shows ZERO indication of the disease.
Insurance continues to cover the second therapy, Evrysdi. We will continue this as long as we can since there Is not yet any clinical data.
Mom is back to work and Dad and Daniela are learning one another.
Our family is eternally grateful for her care team - especially Doctor Lee.

More to follow!

Daniela’s debut to social media! A message of positivity !
08/19/2025

Daniela’s debut to social media! A message of positivity !

Baby Daniela received her Zolgensma Gene Therapy on 7/9/2025. She is doing great so far, and the only concern we see is ...
08/03/2025

Baby Daniela received her Zolgensma Gene Therapy on 7/9/2025. She is doing great so far, and the only concern we see is some blood tests that are not within normal range. We are going to see a specialist next week but at this time it is something to monitor and not be overly concerned about.

How do we know Zolgensma "worked"? The answer is, time and her development. There are numerous studies looking at the efficacy of the infusion and in each one it improved outlook or sometimes completely prevents disease expression.

Daniela's Status at Infusion:

-CHOP score of 58-60 (average): No signs of SMA

6-item assessment used to evaluate motor skills in infants with neuromuscular disorders, particularly spinal muscular atrophy (SMA). The test assesses various movements, including head control, limb movements, and hand grip, with each item scored from 0 to 4, where 0 indicates no response and 4 represents a full, independent movement. The total possible score is 64, and higher scores indicate better motor function.

-Neurofilament: Within Normal Range 2 weeks before treatment!!!

NfL is a protein found in neurons, and its levels in blood or cerebrospinal fluid can indicate neuronal damage or degeneration. In SMA, increased NfL levels can reflect disease progression and response to treatments

-EMG: Within Normal Range

An EMG records the electrical activity of muscles both at rest and during contraction, showing how they respond to nerve signals. If Daniela had nerve damage this test would be indicate same.

06/30/2025

About Daniela: Baby Daniela was diagnosed with Type 1 SMA via NIPT testing which was confirmed via amniocentesis.
She was born 4/14/2025 at 37 weeks old via C section after her plans for induction included staying with her mom for longer than we wanted.
Daniela was started on Evrysdi at 36 hours and has been continuing that treatment since.
Newborn screening confirmed (as we knew) she had Type 1 SMA and 2 copies of SMN 2.
She faced her first setback after we soon learned her antibodies of AAV9 were 1:200 and they needed to be at 1:50 or under to treat with a life changing gene therapy called zolgensma.
At 10.5 weeks we learned her levels came down allowing her to be treated with zolgensma on 7/9/25....
More to follow.
Be positive, thankful and remember to take a moment to look at not what you have, but who you have. Daniela has reaffirmed to us, family is everything.

Daniela's 1st Chapter
06/30/2025

Daniela's 1st Chapter

Address

Ontario, NY
14519

Telephone

+17162281463

Website

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