Archive for June, 2010

Good news

After Gabe was diagnosed with ARPKD we had sonograms done on Max and Nate.  At the time Nate was 3 and his was “clear”. In 2007 we went to the NIH study for the first time and they again did sonograms on Nate, Matt, and myself. At that point it still was not 100% definite it was ARPKD vs ADPKD. We also did DNA testing on Max, Gabe, myself, and Matt, but opted out of having it done on Nate because the sonogram was traumatic enough for him. The thing is during his first sonogram at the NIH the technician thought she saw one cyst. So of course we were extremely freaked out by that. About six months later our nephrologist here in NY did another sonogram and said his kidneys were clear. Now the guru in the field of ARPKD said you can never be 100% sure that someone does not have ARPKD unless you do DNA testing on them. So, when we were at the NIH again in May we asked them to test Nate’s DNA.  To make a long story cut to the point….. the NIH doctor called me today and Nate definitely does not have ARPKD!!!!!!!!! What a relief. Finally some good news related to ARPKD.  They are not 100% sure if he is a carrier. They do not think he is but it’s long and confusing to explain. The boys have two ARPKD mutations. One is the more severe of the two and definitely a disease causing mutation. The other one is missing some things (not sure exactly) and is on the same gene but not definitely the second disease causing mutation. Anyway, Nate does not have either of these mutations. So even if the boys have another mutation that is actually their second disease causing mutation and if Nate has that second one then he would only be a carrier at that point. Does any of that make sense??? Kind of. But really at this point all I need to know is that Nate does not have ARPKD.


June 29, 2010 at 8:11 pm Leave a comment

Monday Memories

My three peas!!!!!

June 28, 2010 at 9:01 pm Leave a comment


Another ARPKD baby was born on Friday who the doctors say will not make it. Sometimes we don’t hear about babies for a few months and sometimes we hear about a lot all at once. It’s just so sad. I cannot put into words my feelings about this but cried when I read their blog before. I just don’t understand this disease. I don’t understand why some babies die and some don’t. We are the lucky ones dealing with ARPKD. Doesn’t that sound ironic? We are lucky……. but we are compared to what could have happened to us. I’m thinking about this family fighting for their baby right now and for the other family who just lost their baby to ARPKD and to all of the families who have lost babies to ARPKD.

June 27, 2010 at 9:30 pm Leave a comment

“normal” kid stuff

Max left for sleep away camp yesterday for three and a half weeks. Wow! I had such butterflies in my stomach for him. He went last year as well but we were both nervous yesterday. He is going with my nephew Jakob from California and I know they will have a blast.  It makes me feel so good when my boys get to do “normal” kid stuff. I still had to call the camp nurse and talk to her about Max and his medications and his need for extra water, etc, but I am so glad he is able to go. At the beginning of the week we went and met Gabe’s camp counselors and I also had to explain his ARPKD to them. I get so frustrated sometimes that I need to even think about these extra things. My friends who are sending their kids to camp only need to worry about the “typical” stuff like their child having fun and making friends and not getting a sun burn, but I had to talk to the counselors about dehydration and getting hit in the kidneys and all of that fun stuff. I know I’m complaining again but it just sucks!

June 26, 2010 at 9:58 am Leave a comment

Another baby

Someone emailed me today who lost a baby to ARPKD in May…. in New York City. It’s still happening in 2010 in major cities. How can we stop this? And how can I help this family cope with their loss? People wonder why I’m sad so often about this disease. I’m sad for my boys. But I’m also sad for the babies who don’t even get the chance that my boys are lucky enough to have in this world. And I’m sad for the parents of these ARPKD angels who have to make decisions that no parents should ever have to make about their dying babies and about future children they might or might not have because of this devastating disease. Yes, my boys are doing well at the moment but so many children and babies with ARPKD are not. We need to find treatments and a cure for this disease!

June 23, 2010 at 8:46 pm Leave a comment

Birthday boy

I had the baby picture of Nate but also wanted to include this one of him lighting his birthday candles tonight!!  So big!

June 17, 2010 at 10:27 pm 2 comments

Happy 7th Birthday, Nate

I always loved this picture of you. What a smiley baby you were! I always said you were born to be my middle child! Of course I try not to say that to you too much. But you do like to march to your own beat! You are your own person. Daddy’s father says you are just like daddy when he was younger. I think you are just like him now too!  You know every button to push to make me crazy!! You also love to tease Gabe any chance you can. And you idolize Max and love daddy the best!!  You are so bright and listen to very interesting facts and remember them!!  You are great on the soccer field and hitting the baseball too. You are also very artistic and creative. You say you want to be a spy when you grow up and sometimes you hide in the house and are so silent I have no idea where you are. You also have this special way with animals and love them so much. You are so good with our new puppy, Theo, and so helpful too! You love to take him out and help walk him and feed him. Our family would not be the same without you in it. I hope you have a wonderful birthday and always know how much I love you. I also hope you always march to your own beat and do things the way you want to!

June 17, 2010 at 10:26 pm Leave a comment

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