For1Day

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When we first found out we were pregnant with Elli, we started to plan for Elli’s future right away. Yi Kyung, the consummate planner, quickly picked top three daycares and pediatricians to interview. I picked up the book, “Strong Father, Strong Daughter” as my way of preparing for Elli’s arrival. We were nervous but couldn’t be happier. We had so much planned for her.

As you know, Elli didn’t think much of our plans. She came with her own ideas of the future. We weren’t ready for it. We were crushed, defeated, heartbroken and scared. Our plans did not have words like severe intellectual disability, developmental delays, speech abnormalities, seizures and even uncertain life expectancy. The book didn’t teach me how to become a strong father to a special need child.

However, we recovered quickly and began to feel hopeful as Elli started responding to her therapies and achieved milestones at her own pace. We were excited again. Hope is a powerful thing. It drives you and energizes you. It got me to finally share Elli’s story with you last year.

Then, everything came crashing down this February. We started noticing Elli was very lethargic. We changed her routine and medication. Nothing worked. Finally, we took her to ER and learned that she was having subclinical seizures. This started a vicious cycle of seizure, sedation, aspiration, pneumonia, intubation and prolonged ICU stay. Just this year, Elli spent over 90 days in the hospital. She is now continuously fed through her G-J tube. She sleeps with a bi-pap machine and requires several breathing treatments a day. Her room would put most hospital rooms to shame.  Every milestone we celebrated disappeared as if they never happened. We can’t seem to keep her healthy for her body to heal and regain its strength.

My wife and I have the perfect job that allow us to provide the best care for Elli. We learned how to open up to others and ask for help. We grew closer to our family and friends. We learned not to take anything for granted. We learned to cherish every single moment we have with our kids. Our lives have been enriched through Elli.  Yet, we would trade all of that just for one day with Elli where she screams because William took her favorite doll, she smiles because she got her chocolate ice cream with sprinkles, she sings and dances with Madelyn, she cries because we wouldn’t let her watch TV, and she hugs us and says “I love you”. Just for one day.

We want to do everything in our power to get to that day but we can't do it alone.  We need your help.  Please help fund the research so Elli can have that One Day with us. The money will fund the last series of animal tests before human trials begin. In July, Elli turns 5. She has never had a typical birthday party so this year we are throwing her a party and inviting all of you. We sent out a save the date for July 15th. If you can come, please let me know. Also, instead of gifts, please donate online or bring your donation to the party.

What is MECP2 Duplication Syndrome?

Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.
The syndrome has been diagnosed mostly in boys. The majority inherits the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children.
The MECP2 Duplication Syndrome may be quite prevalent.

Learn more about MECP2 Duplication here.

What is the MECP2 Duplication Syndrome Fund at RSRT?

In an effort to immediately leverage RSRT’s deep knowledge base and well established global scientific networks the MECP2 Duplication Syndrome Fund at RSRT was created in late 2010. The Fund puts the intellectual and scientific resources of RSRT immediately to work for the MECP2 Duplication/Triplication Syndrome community.
The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research – not a single penny goes to overhead.
In 2012, a parent-driven effort was established to raise funds for the initial reversal experiments conducted at the Baylor College of Medicine. Families pledged to raise $401 to cover the cost of the experiments. The initiative was a success, and the 401 Project was born. All funds raised through the 401 Project initiative are directly deposited into the MECP2 Duplication Syndrome Fund at RSRT.

Learn more about RSRT here.

Supporters (10)

  1. Bernard Hewett 
    2 weeks ago
    250
  2. Rachel Pierson 
    2 weeks ago
    60
  3. tadaki tsujimura 
    2 weeks ago
    100
  4. Stephen Joe 
    2 weeks ago
    250
  5. Philip Chen 
    2 weeks ago
    500
  6. Tiffany Ma 
    2 weeks ago
    100
  7. Bernard Hewett 
    2 weeks ago
    500
  8. Elizabeth Kim 
    2 weeks ago
    100
  9. Heather Wallace 
    2 weeks ago
    50
  10. Yi J Byun 
    2 weeks ago
    500

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