We have had several messages sent to me asking about Olivia, I have put together an update….but it is a bit long, so please bear with me. Thank-you everyone for your kind messages.
Olivia’s diagnosis is unbelievable to understand. We have had a little bit of time to let all of the information sink in & learn how Olivia will be affected.
Originally it was thought that Olivia had Polycystic Kidney Disease (PKD). The first round of genetic testing sent to Germany could not confirm PKD. There were some symptoms that could not be explained, Olivia was so incredibly sick. Doctors felt that cystic kidneys were only a small part of Olivia’s disease, that there was a much bigger picture to her illness. Full genetic exome sequencing was then done on Olivia, mom & dad to try to help determine Olivia’s diagnosis. Blood work was sent off to a U.S. lab to be tested.
The results recently came back and Olivia has an extremely rare condition called, ‘Renal Hepatic Pancreatic Dysplasia Syndrome’, or Ivemark’s Syndrome. The NPHP3 gene was affected in Olivia’s kidney development. 8 cases worldwide have been documented, each case extremely different from the other. It was very disheartening to find out in research that many babies do not survive this disease past birth. Renal ‘Ciliopathy’ or cells did not develop normally in Olivia’s kidneys. Cysts developed in both kidneys, making function shut down & placing her into end stage renal failure. Cysts were also found on her liver. Right now Olivia’s liver is functioning, but it is very enlarged with cysts, cirrhosis & an abnormal lesion, which is consistently monitored to ensure that there is no cancer growth. Olivia will also be needing a liver transplant. We are unsure if the pancreas has been affected at this time, but it will be monitored closely. She has a high risk to develop diabetes, also seizures.
Olivia is a fighter, a champion, the bravest little girl! She has been on hemodialysis, peritoneal dialysis, through several blood transfusions & infusions to help keep her alive. She has also fought several peritonitis infections. Blood work is constantly needed to ensure all of her electrolytes are stable & toxins are clearing properly. Olivia is tube fed & we are always working on nutrition, physiotherapy & occupational therapy to gain strength that has been lost from being so sick.
With transplant, Olivia will be given the opportunity to thrive, grow & have a wonderful life! She is almost there…just a couple of kilograms to go & centimeters to grow. Olivia’s transplant assessment will be early in the New Year & hopefully listed for transplant shortly after. At least one of Olivia’s kidneys will be removed to make room for a new kidney. We are hoping mommy can be given the go ahead to be her kidney donor, or we will need to find a living donor kidney match. (Olivia is B+) If a dual liver/kidney transplant is needed, she more than likely will be placed on a deceased donor list, where she could be waiting for transplant for months, even years. The importance of registering to become an organ donor is so high. Thank-you to everyone who has followed Olivia on this incredible journey…we are so thankful for the support!