Genetic Testing Unlocks Family's Future

Ғылым және технология

For years, the Robinson family searched for the cause of their firstborn child's seizures and developmental delays. When their third child began having similar issues shortly after birth, the family finally found an answer in their genes. Learn more about the Division of Genetics, Genomics and Metabolism at Lurie Children's: www.luriechildrens.org/en/spe...

Пікірлер: 15

  • @jeanrichardson2044
    @jeanrichardson20442 ай бұрын

    This was awesome. I am so sorry that Benny was not caught early, but he looks as though he brings you all much joy. When I started working in our local maternity hospital in the 1970s I can remember reporting a very unusual first bowel motion from a wee girl. Subsequently from the genetic test card she was diagnosed as having cystic fibrosis, as did her sister. It had recently been added as one of the tests we did then. Early intervention made a huge difference.

  • @rebeccaburke3864
    @rebeccaburke3864Ай бұрын

    Thank you for sharing your story and advocating for the newborn screening!

  • @SH-sz6yq
    @SH-sz6yqАй бұрын

    My daughter was 2 when she got diagnosed. She is now 31 and mother of 3

  • @swaziswimmer
    @swaziswimmerАй бұрын

    Good for you all to keep pushing to add it to the newborn testing list!!!!

  • @sarahelliott7926
    @sarahelliott79262 ай бұрын

    Thats awesome that they have this condition checked during newborn screening. At least there is some type of treatmrnt available that can possibly improve this disorder. I have a genetic disorder called PWS. There is no cure and they unable to curve the insatiable appetite that is beyond our control. I am 43 and i had hormone replacement therapy as a teenager. It is my hope that one day they can find some type of medicine or treatment that can curve the appetite. Im missing an enzyme needed for digestion purposes so my brain always thinks about food. I am always hungry unless i just finished meal but its rare. We are always hungry.

  • @melb.6617
    @melb.6617Ай бұрын

    Did I See a cataract in the left eye of the youngest girl and the boys eye?

  • @petersampson5202
    @petersampson52022 ай бұрын

    DEAR MR. BENNY, THE ROBINSON FAMILY, DR. BAKER, MRS. KIM, MS. CELIA & EVERYONE AT ANN & ROBERT H. LURIE CHILDREN'S HOSPITAL OF CHICAGO, GOD BLESS YOU MY FRIENDS. I AM VERY PROUD OF YOU AND VERY HAPPY FOR YOU. I HOPE ALL OF YOUR DREAMS COME TRUE. I LOVE YOU SO VERY MUCH. I LOVE ANN & ROBERT H. LURIE CHILDREN'S HOSPITAL OF CHICAGO SO VERY MUCH. SINCERELY PETER

  • @TheAccidentalViking
    @TheAccidentalViking2 ай бұрын

    The leukocoria is right there in that photo of the kids.

  • @shakeyj4523

    @shakeyj4523

    Ай бұрын

    I'm sure they know, and at least we know the worst possibility is not the cause of it.

  • @carinacnl4985
    @carinacnl4985Ай бұрын

    What a beautiful family.

  • @nancyshrout-wankowski7147
    @nancyshrout-wankowski7147Ай бұрын

    What is up with the eyes of two of the kids?

  • @gabriellakiss1719

    @gabriellakiss1719

    Ай бұрын

    4:16 ?

  • @chellesama8256

    @chellesama8256

    Ай бұрын

    Leukocoria - literally white pupil - is from an abnormal reflex in the pupil. It's indicative of several possible disorders.

  • @nutrirebyanaluarrivillaga2646
    @nutrirebyanaluarrivillaga2646Ай бұрын

    She looks so much like Celine Dion 😮

  • @paulettehall4614
    @paulettehall4614Ай бұрын

    Why in the hell would you have another kid after the first one

Келесі