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What is 1p36 Deletion Syndrome?

 

1p36 Deletion Syndrome is a chromosome disorder that can be characterized by moderate to severe intellectual disability, delayed growth, limited speech ability and distinct facial features. It is estimated that 1p36 Deletion Syndrome occurs in one in every 5,000 to 10,000 births though many individuals still go undiagnosed. Though many people have never heard of 1p36 Deletion Syndrome, it is the one of the most common chromosome deletions. Learn More

Saturday
Apr062019

CoRDS Registry

1p36 Families—we need your information!!  1p36 Deletion Syndrome is now part of the CoRDS Registry. Our goal is to collect information on as many 1p36 individuals as possible (of all ages) so that there will be one central resource that will help research into 1p36 Deletion Syndrome. The Coordination of Rare Diseases at Sanford (CoRDS) is a centralized international registry for all rare diseases. The registry is run by Sanford Research in Sioux Falls, SD, USA. The CoRDS registry is free for patients to enroll and for researchers to access.

Patient registries are designed to collect, store, and curate data on patients to be used for a specified purpose. They can be tools to establish natural history studies, establish prevalence, and connect patients with researchers who study their disease. The CoRDS registry for 1p36 Deletion Syndrome will house basic contact and clinical information for any individual enrolled.  Please note that once you fill out the registry, no information will be shared with anyone without the permission of the 1p36 DSA.

 To have your child be part of the registry, please use this link:   https://cordsconnect.sanfordresearch.org/BayaPES/sf/screeningForm?id=SFSFLNote that our Angel Families are also welcome to participate in the registry!!  This link takes you to the Screening Form.  Indicate if you want to fill out information online or by mail. Be sure to select that you found out about the registry through 1p36 Deletion Support & Awareness.  

  • If you choose to submit info online, you will receive an email with instructions on how to do this, including a username and temporary password.
  • If you choose to submit information by mail, you will be mailed an information packet (including a pre-paid return envelope) with the materials you will need to enroll your child.

The CoRDS registry process is designed to be simple and user-friendly.  If you have any questions about this process, please contact cords@sanfordhealth.org or call them at 1-877-658-9192.

Once you have enrolled, you will be contacted annually by CoRDS personnel to update your information.

CoRDS takes your privacy and security very seriously.  You can find more information about their security measures on the CoRDS website.


 

Friday
Apr052019

2019 1p36 DSA Conference at Snowbird Resort Utah

The 2019 1p36 DSA Conference is coming up August 1-3, 2019 at Snowbird Resort, Utah. All Conference information can be found on the conference information page. 1p36 Deletion Support & Awareness is also happy to be able to offer 6 conference scholarships for first time attendees. The scholarship application can be found here. Applications must be received by April 28th, 2019.

Wednesday
Apr182018

2018 Conference Registration is now open

 

Thursday
Mar222018

2018 Conference Scholarship

UPDATE: Application deadline has passed and applications are no longer being accepted.

1p36 Deletion Support & Awareness is very happy to be able to offer 6 scholarships to the 2018 Conference. Each scholarship includes 3 nights hotel at the Lord Baltimore Hotel and free conference registration for 2 adults and the individual with 1p36 Deletion syndrome. Complete scholarship information and application instructions are available at https://www.1p36dsa.org/2018-conference-scholarship The applications are due by April 22nd.

Sunday
Feb252018

Reflections on the 2017 1p36 Conference

Below is a letter from a mom that attended the 2017 1p36 Deletion Support & Awareness Annual Conference. This mom also received a scholarship from 1p36 Deletion Support & Awareness to attend the conference.

The 2017 Conference in Baltimore, Maryland was the first time in thirteen months I had left my son. As excited as I was, I was more nervous. I'm not a very outgoing person so it's difficult to just walk up and strike up a conversation. Even so I made a few more friends than I expected. I Probably could have made even more, but there's always next year!

My experience was emotional, scary, and eye opening. The first hour I think I cried six times. From sadness and happiness. Sadness because of the babies and children we lost. Happiness because of the overwhelming feeling of being with people who actually get it. They know how you feel. They have been there or are currently there. They understand the pain, stress, sleepless nights, the constant worry etc. It made me feel relieved. We all have family and friends who sympathize or say they understand. But we all know that's not always the case. You only understand if your living it.

I learned many things for when my son is older to help with behavior and communication. How to engage him in different activities. How to help and support him when his dad and I aren't around.

The Q&A session with the genetics doctors was interesting to me. I learned quite a few things. Somethings I knew already. But it's reassuring hearing that it's not your fault. It's just something that happens. I know I have blamed myself. I didn't do something right. I know now for sure that's not the case.

Seeing all the kids with 1p36 Deletion Syndrome was great and hard at the same time. It really is such a wide spectrum. I often wonder where my son will fall. But it gave me confidence that he isn't as severe as I thought and there is so much potential and hope for him. Therapy, therapy, therapy!!!

When I arrived home I was slightly sad. Not that my feelings had changed for my son. But I see him in a different light now. I see the diagnosis more now than I did before. That hurts a little, but it helps me to have more patience and understanding with him.

The conference was an amazing experience and I look forward to being in Houston in 2018. I encourage all 1p36 parents, grandparents all family and friends to attend a conference if they are able. It is amazing the information and new friends you can make. It's a big family. A support system that all of us need. This is a long road and a rough ride. But together we can help our kids overcome and be the best they can be. They are blessings and should be treated as such.