Wednesday, October 28, 2009
Welcome to our blog! Much thanks to Veronica for coming up with the idea & running with it!! :) We hope that you will find our blog humorous, insightful and helpful...not necessarily in that order.
Like Veronica, my family is affected by PKD. But my sitauation is a bit different from hers. As Veronica stated, her grandmother was the "mutant" (for lack of a better word) in her family in which the PKD started. Well for our family, this ===> adorable little girl is our "mutant". :) She is the first and only one in our families to have PKD...but it will continue on in generations when/if Payton has children of her own.
Payton was born back in June 2002 with a rare genetic syndrome called Oral Facial Digital Syndrome Type 1, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1 . This came as quite a shock for her father & I as the pregnancy was normal and we had never heard of this syndrome before in either of our families. Payton has endured 15 surgeries in the first 5 yrs of her life to correct the physical anomolies, the first one being at 1.5 months old! We are on a holding pattern right now for surgery as she needs to get more permanent teeth in before they can continue with the oral surgeries.
Payton also has global developmental delays due to the brain anomolies that are associated with her syndrome, namely complete Agenesis of the Corpus Callosum (c-ACC). The CC in the brain connects your right & left hemisphere and Payton's is missing. This means she has to create the synapses/connections between the hemisphere's when she learns something new. Repetition is the way that Payton learns....lots of repetition until she can finally do something that might come very easily to someone else. She was very delayed in meeting her developmental milestones-didn't sit up until 18 months old, walked at 3 1/2 yrs old and is just now potty training. But Payton is amazingly resilient, courageous, tenacious & it's unbelievable how far she has come even with all the obstacles in her way.
PKD is also associated with her syndrome in over 50% of the cases. At birth Payton did not have any cysts on her kidneys & the Dr's told us that we should start having her kidneys checked when she was around 10 yrs old as this is when most kids start to develop the cysts. Well Payton has NEVER gone by the "rules" so when her blood pressure was showing elevated numbers around age 2 1/2 yrs, I politely demanded an ultrasound. Sure enough, she had cysts on both kidneys! She was started on Enalapril to control the high blood pressure and began her yearly kidney ultrasound & echocardiogram and twice a year blood tests to monitor her kidney function. Luckily, we have only had to increase her medication a few times and we are keeping the BP under control. And so far her heart has not been affected by the high BP.
She did have a liver ultrasound in addition to her kidney ultrasound last April and they did find cysts on her liver as well. This is typical for kids with her syndrome that have PKD. She is also at risk of cysts on her pancreas as well. There is nothing we can do for the liver cysts, just monitor it along with her kidney & treat the symptoms.
PKD sucks as there is NO TREATMENT OR CURE! There is only managing the symptoms, going on dialysis and eventually a kidney transplant. As Veronica said, all we can do is wait...wait for a cure, wait to see what happens over time with the kidneys, wait to see if this disease continues to get passed on through the generations.
Veronica & I, along with many others, don't like to just sit and wait! So we are giving our time, energy & dovotion to finding a cure by teaming up with The PKD Foundation. We both are involved in volunteer positions which we feel brings us closer to finding the cure. To learn more, please see the link on our home page.
Until next time,
Posted by Unknown at 10:39 AM