Brielle -Dup15q Family Story

December 2, 2016
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My name is Brielle Gracyn Manning and I’m 10 months old. I was born January 19th 2016 and ever since that day my Mommy and Daddy have known me as their little fighter. In the few short months I’ve been in this world I have been through so much, so here is our journey.

When I was born my Mommy was induced due to IUGR (Intrauterine Growth Restriction). What we didn’t know is I had stopped growing at 34 weeks and I was lucky to be alive.  I was also born with a right knee and left hip dislocation,  which I had my leg casted at just 6 days old. I was always a little small and behind with my milestones but we always thought it was from the IUGR diagnosis little did we know the worst was still ahead.  When I was about 5.5-6 months old my Mommy and Daddy grew concerned with my delays and these odd jerking movements I was doing.  When we spoke with the pediatrician she sent us down to a Specialty Hospital in Iowa City.  On September 12th 2016 I was diagnosed with Infantile Spasms, which is classified as a catastrophic infant seizure disorder.  I would have up to 60-70 seizures a day. I was started on a very high dose of Prednisone paired with Ranitidine when that didn’t work we switched to ACTH injections. After many hospital visits and tests we were able to finally get the seizures under control with ACTH, after almost a month and a half after diagnosis. We are so very happy to be weaned off all medications and doing well. During this whole process on November 1st 2016 is when we received the Dup15q diagnosis from the Genetics. I am Interstitial. The doctors believe the Infantile Spasms are linked to Dup15q. I am very developmentally delayed, however now that I’m off the medications I’m full of smiles and giggles. I will start therapy back this week and then our new journey begins and figuring out our normal for our family. We also plan to get a referral to the Dup15q Clinic in Minnesota when the time is right. I’m so lucky to have my amazing family to love on me including my Mommy, Daddy, big sister Keeley and big brother Dominic. So here’s our story and we are sticking to it!

Brielle and her mommy


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