Kimberly Marshalene Merritt was born May 30th 2018 at 36 weeks gestation. She weighed 5 lbs 3 oz and was 18” long.
Her Mommy, Daddy and three brothers were so excited to welcome this sweet little girl into their family. Her extended family is taking bets on if she will be a girly little princess or a Tomboy fishing and playing in the dirt with her brothers and Daddy!
Early on the Dr’s realized that there were some abnormalities in Kimber’s labs. She also wasn’t gaining weight at an acceptable pace. She was diagnosed at that point with Congenital Hyperthyroidism. For the next 3 months Kimber was monitored closely by her Drs in Casper, Wy.
On September 6th 2018 Kimber had an appointment with a GI Dr at Rocky Mountain Hospital for Children in Denver CO for and upper GI and colonoscopy. That scope did not show any physical abnormalities. However, the Dr’s there decided to keep her overnight to monitor her mostly due to her small size of only 6 lbs 5 oz.
During that short overnight stay Kimber began to have some complications and the Dr’s asked us to stay a few days so they might be able to figure out what exactly was keeping her from growing.
Within the next couple of days the Drs suspected that she had indeed been misdiagnosed and that she met many markers for a very rare disorder called Congenital Disorder of Glycosylation (CDG). Glycosylation has many different sub types and they all vary vastly in their severity.
On the 4th day Kimber was transferred to the PICU due to some uncontrolled bleeding and fluid build up in her abdomen. From there this journey has gotten very concerning and scary for Kimber. Her liver and kidneys were not filtering her blood correctly and she was put on dialysis at this point as well.
On Sept 12th Kimber’s Drs told her family that the only chance to save her life was to do surgery on her abdomen to relieve some of the pressure and to see if they could figure out where the fluid was coming from. She survived that surgery against the odds. The Drs did not find a definite source of the fluid but did find some infection. They were not able to close this surgical incision due to how enlarged her liver was. By leaving it open it gave the rest of her organs the room to function correctly and allowed the surgeon to go back every couple of days to clean her insides out and keep a close eye on what was going on in there.
Every 2-3 days the surgeon went back in for a total of 4 surgeries. She was able to get control on the infection. During this time Kimber was also fighting a sepsis and respiratory infection. She was now on dialysis, a breathing tube and had multiple drains from her tummy and many IV’s. After the 4th surgery the surgeon was able to close her up and Kimberly did well for a few days.
On Sept 16th we were able to meet with the geneticists and confirm that Kimber is indeed positive for CDG and all though they believe she is sub-type PMG-1 that has to still be confirmed with a DNA test that cannot be performed because she continues to require blood transfusions.
The good news is CDG-PMG1 is a treatable although not curable type of CDG. One of the most frustrating parts of this journey is not knowing what that treatment will include. However, all of our research leads us to believe that Kimber will be able to live a full life if we survive this acutely ill stage first.
On the same day Kimber started bleeding profusely internally. We again thought we were going to loose her but after losing a large amount of blood and an alarming amount of blood transfusions the Drs got it under control. Only to then start bleeding again on Sunday. However, Kimberly may be small but she is a mighty fighter and once again defied the odds and stabilized the next morning.