Skip to content
samuelortiz's profile image - click for profile

Samuel Ortiz's Fundraiser:

Team Nicolas

Samuel's Photo
Samuel Ortiz

THE STORY:

Monica Pena wrote -

Fragile X Syndrome is the most commonly inherited cause of intellectual diability. The FMR1 gene on the X chromosome is responsible for the deficiency of the FMRP (Fragile Mental Retardation Protein). Symptoms can include: learning difficulties, autism, severe anxiety, seizures in 20-25% of boys, attention deficit, and hyperactivity. FX affects 1 in 4,000 boys and 1 in 6,000 girls. FX is carried by 1 in 260 women and 1 in 800 men. A woman who carries the gene that causes an X-linked condition has a 50/50 chance of passing it to a child, whether it is a son or daughter. This is because she has two X chromosomes, and she passes one or the other for a son or daughter. A man with the same X-linked gene passes it to all of his daughters and none to his sons. This is because he passes his only X chromosome to his dauthers and his Y chromosome to his sons.

Nicolas, who is 3 years old had genetic testing which led to the discovery of our Fragile X diagnosis just after birth. Monica had a repeat (or genetic stutter, 140) on one X chromosome. This caused the full mutation to be passed on to Nicolas. Santiago, who is 6 year old, is not affected, which means he got the other X chromosome. We have learned so much since our diagnosis! For instance, the number of genetic repeats does not correspond to the intellectual ability of the person with FX. The range of ability varies from mildly affected to severe. Early intervention is crutial! We have come a long way! While developmental delays may cause Nicolas to adapt to learning on a different level, we are proud of the fact that he is continuing to learn daily! Behavior and potty training remain difficult. The inability to express himself seems to be the determining cause of acting out at times. He also gets overstimulated which makes going places very challenging.

We thank you in advance for your contribution. Research and early intervention really play a role in whether Nicolas and other children with Fragile X can live independent lives.

DONATE

To This Fundraiser

$50

MONEY RAISED
  • Samuel Ortiz

    $50

  •  
  •  
  •  

Fundraise for this Campaign

The Team: $4,214 TOTAL RAISED SO FAR

Fundraiser Title

Monica Pena

Amount Raised

$3,724

Fundraiser Title

Heather Bardot

Amount Raised

$170

Fundraiser Title

Ashok Sarathy

Amount Raised

$85

Fundraiser Title

Grace Yeo

Amount Raised

$85

Fundraiser Title

Anna Crowley

Amount Raised

$70

Fundraiser Title

Samuel Ortiz

Amount Raised

$50

Fundraiser Title

Elise Barbot

Amount Raised

$30

Fundraiser Title

Meredith Gustafsson

Amount Raised

$0

Donor Comments

Samuel Ortiz

Samuel Ortiz

DONATION: $50

Le mando todo mi amor a Nicolas en el nombre de Dios nuestro creador que lo ama, cuida, y usara para Su gloria desde antes de nacer y hasta la eternidad. 5 years ago