Our So-Called Life.

Ok I am updating from my phone so it is kind of hard. Cade had his sleep study last night then was scheduled for a swallow study this morning. Well, the swallow study showed that Cade was aspirating...silently-obviously because we had no clue. It is no longer safe for Cade to take bottles by mouth due to aspiration. If food continuously goes straight to his lungs he can get very sick. He will be getting a g-tube, which is surgically put into his stomach. We will work very closely with feeding specialists to get him to tolerate liquids better then eventually we can pull the little button out! He will also have another procedure at the same time called a nissen. It is to help with his reflux issues because reflux causes aspiration and aspiration irritates reflux. Main concern now is anesthesia. PWS patients have to be closely monitored with anesthesia and sometimes have trouble coming out. We are praying and hoping all goes well! I can update in more detail later when I can get to a comp...

So, if you haven't heard yet there was a Huge breakthrough in PWS Research yesterday. Basically, some very Smart scientists are now able to research and study PWS live brain cells. (Thank the Lord for them!) "These cells (which were made by transferring a special set of genes into skin cells from a person with PWS) have the ability to change into a variety of cell types in a dish - muscle cells, pancreatic islet cells, and importantly, neurons. Thus, we now have an ongoing supply of PWS neurons - we can study how their gene expression differs from normal, whether their metabolism is altered, whether neuronal migration and/or interaction is altered, and how their neurochemistry differs from normal. Once they figure out how PWS neurons are different, they can throw some small molecules, existing drugs, new drugs, etc onto them and see if they can get them to behave more like typical neurons. This is an "in vitro" (in the dish) system, so there are some limitations (ju...

This is the ceremony where they presented the check from the APX Alarm contest we won...Great explanation of PWS! 

I just wanted to post and say how happy and blessed I feel. Cade has made so much progress in these past four months and is so full of life now. He is so happy and brings so much joy. Carter has been such a good Big brother and I know he will help Cade exceed all his expectations. Cade is so aware of him, and his eyes are always fixated on him. I can already see how much he looks up to Carter. The love is truly so innocent and unconditional!  I have been told and now see for myself that Carter is really Cade's best therapy. Cade had his 4 month check up last week and everything went pretty good. My big boy is now 10lbs 11oz. I can't believe it! I never thought I would see the day. His ped. said his muscle tone is better than the PWS patients she has seen. ??? Guess that is a good thing! She said everything looks great with him. She did notice that his posterior fontanel(soft spot in back of the head) is still open. It usually closes by 2 months of age. She wasn...

http://unexpectedmoments.smugmug.com/Babies/Cade-Joseph/13864686_rzieG#1016853721_wgW9c

...4 Months... Such a Happy Little Guy!!! Loves when Daddy makes him Fly... Pictures can't express how excited he gets! All ready for the Saints game...Who Dat!!

Just some info for anyone who wants to know how this very complicated genetic disorder works... Chromosomes and Genes: The Basics To understand the genetics of PWS, it helps to have a basic understanding of chromosomes and genes. Chromosomes are tiny structures that are present in nearly every cell of our bodies. They are the packages of genes we inherit from our parents. Genes contain all the detailed instructions our bodies need to grow, develop, and function properly—our DNA. Specific genes direct our cells to produce proteins, enzymes, and other essential substances. Each of our many genes is located on a specific chromosome. Most of our body’s cells contain 46 chromosomes—23 inherited from our mother and 23 from our father. (Egg and sperm cells normally contain just 23 chromosomes, because those are the cells that join in conception and provide the baby the right number of chromosomes.) Twenty-two of the chromosome pairs are labeled with a number based on their size (chromosom...

So, I have been knowing that Cade would get sick sooner or later, but I was hoping for later. He is congested and that becomes much more of a problem for him since he can't cough. Mostly because of his low tone he doesn't have the ability to cough the mucus up, so it just sits in his airways. He rattles horribly, but the doctor said it is not in his chest. Things have to be caught early and treated or it is very is for phnemonia and infection to set in. So, my poor little boy is on Antibiotics and breathing treatments. We go back tomorrow for a re-check to make sure it has not gotten any worse. Good News is Cade weighs 10 lbs!!! I have been weighting for him to hit the 10lb mark for what it seems like forever. He has already outgrown some of his Newborn clothes. I thought that would never happen. All I have wanted since his birth was for him to hurry up and grow. I am very happy that he is progressing and growing, but I know before I know it he will be growing so fast and I wil...

This is an article I have copied from http://www.fpwr.org/ , Foundation Prader Willi Research. The past and present research projects that are being done absolutely amaze me! I just thought you may want to read a little about this current research project. :) Activation of the maternal allele Prader-Willi syndrome (PWS) results from inactivation of a domain on the paternal chromosome 15 while the same domain on chromosome 15 that is of maternal origin is normally inactivated. This situation in Prader-Willi patients is therefore associated with complete silencing of a relatively large number of genes that are located in this domain. This silencing of the genes is therefore implicated in the various symptoms observed in Prader-Willi patients. It is presumed that the genes of the domain on the maternal chromosome 15 are intact and perfectly normal but unfortunately dormant. The question is, how can be wake these genes up? Answering this question might not be simple, but we think th...