Extraordinary Measures

When you stop to think about it and start doing some research you find out there are so many really bad childhood illnesses/diseases out there. It’s actually really scary and so very sad. There is a movie coming out called Extraordinary Measures. It is based on a true story of a father who gave up his job to find a cure for his children’s rare genetic disease. The children have something called Pompe Disease, which means your body cannot break down sugar and without treatment is fatal. And the movie is based on a family with two children with this disease.  On the movies’ website http://www.extraordinarymeasuresthemovie.com there is a button to push called inspirational quilt. It is where organizations and charities could apply to try to win $10,000. I first found out about this because the PKD Foundation has entered to win and the short video they posted was about a little girl named Sage who has ARPKD. Of course since I am slightly masochistic I went on to read other stories and my heart was so saddened.  I often feel sorry for myself and the boys but then again I do know there are so many worse things out there. At this point we are living with ARPKD and actually living a somewhat “normal” life. But to read some of these stories is just unbelievable. Two that really touched me were one about Batten Disease and one about Fanconi Anemai.  Batten Disease is a recessive genetic disease in which there are different forms. One is fatal by the age of two, another one shows up around the age of 5 and is fatal between the ages of 8 and 12, and the other form the children live to be in their twenties. The one I read about can be found at noahshope.com. It is so sad and cannot be looked at without a box of tissues. It is the story of a family who have a son named, Noah, who they thought was fine. When he was 2 they then had twin girls.  When Noah was five he was diagnosed with Batten Disease and a few months later one of the twins was diagnosed as well. It is a rare genetic disease that causes the child to regress neurologically which eventually results in death. It is horrible and there are no treatments or cures out there. Another story that was very touching was hopeforhenry.org. It is an organization formed by the parents of Henry, who passed away from Fanconi Anemia. FA is also a recessive disease that causes the bone marrow to fail. After Henry passed away his parents formed this organization to bring gifts to children in hospitals. It is very touching.

My friend always says if you put your problems into the circle and saw what else was there you would take back your problems. And sure that is probably true. Of course I would love to live a problem free life, isn’t that realistic!!! It sucks to have “sick” kids. It sucks to have any sort of problem. But to look at these stories and see how bad people have it I am grateful for what I do have. And for my “normal” boys who are beautiful and fun even when they drive me crazy!!

Bad doctor’s visit

I took Nate and Gabe to the doctor the other day for potentially their second dose of the H1N1. But they had both been sick so it really turned into a sick visit.  And unfortunately we saw the doctor we don’t typically see who appeared to be in a bad mood. I totally get that everyone has their day, even doctors. What I don’t get is if this is your profession and even though you are in a bad mood you still have to do everything in your power to be the best doctor for your patients. Nate was in one of his moods and did not want to be checked. I had to hold him down. It wasn’t pretty. But what was really the worst part was the doctor’s outright annoyance at the situation. And what was worse was my annoyance at Nate and at the doctor but my lack of ability to handle the situation. ugh. It was bad.  Looking back I wish I had been more comforting to Nate and also been able to stand up to the doctor. These things happen and we have moved past it but I am really frustrated and saddened by it.

Monday Memories

I’ve decided to post a picture every Monday and talk about the memory surrounding it. This first one is a hard one because it was the day Gabe was born. This was when they were wheeling him out of the hospital I was in to take him to a better NICU. It was hard to see and it is still hard for me to think about. My NICU experience still gives me a pit in my stomach and still brings back so many emotions. I am so thankful every day that he made it through that first night and has been thriving since. I think it is good for me to look at these pictures and really appreciate my boys!

ARPKD vs ADPKD

We had a meeting today with the Hudson Valley Chapter of the PKD Foundation. My pediatric nephrologist came to speak about PKD in children; ARPKD and ADPKD. To be honest it was very interesting but I didn’t learn anything.  What bothers me is that in every ARPKD conference I’ve been to they always discuss the differences between ARPKD and ADPKD. But I honestly don’t think in the ADPKD conferences they talk about the differences. And so many people are uneducated about ARPKD. I know so many more people have ADPKD but it gets frustrating sometimes.  After the whole talk today someone actually asked me if my husband or I had PKD. Seriously?? After the doctor just got through talking about the whole genetics of it.  Strange.  Then someone else who has ADPKD actually thought if his daughter turns out to also have ADPKD and marries someone with the ARPKD gene then their child could have ARPKD. Matt tells me not everyone understands it the same way or researches it as much as I do. A friend of mine said we should have promoted this seminar today for pediatricians to attend and even OBGYN’s. That would have been such a smart idea. Because honestly I’m not sure they know enough about the disease either. I’ve had more than one doctor ask me where the family history of PKD is when I say I have two children with ARPKD and I even reiterate the recessive part when I say it. To me it’s all about the lack of information and education and the misinformation that is out there about ARPKD that really frustrates me.

The main differences are:

ARPKD is recessive meaning both parents have to carry the mutated gene in order to pass it down and ADPKD is dominant meaning one parent actually has the disease.

ARPKD – there is a 25% chance every time you are pregnant to have a child with it; ADPKD – there is a 50% chance every time you are pregnant to have a child with it

ARPKD – almost always shows symptoms in the neonatal period or early childhood – doctors feel that all children with ARPKD even without symptoms do have cysts on their kidneys at birth; ADPKD – rarely shows up that early and often not until later in life – you can sometimes not show any signs of ADPKD until your late 20’s or early 30’s (for example you can have a clear sonogram in childhood and then show cysts later in life)

ARPKD – always has the liver involvement (CHF – Congenital Hepatic Fibrosis); ADPKD – sometimes has liver involvement usually with cysts on the liver and rarely has CHF

ARPKD – the kidneys appear bright (echogenic) on ultrasound and have too many cysts to count; ADPKD – usually have bigger cysts and less of them

There are many more differences between the two diseases but those are some of the basic ones.

What organ donation is all about

I “borrowed” this from another blog. I thought it was so beautifully written and the writer of it gave me permission. I took out the names but it really touched me. Just think about it. Think about all of the people out there waiting for organs. Think about all of the people who graciously give a kidney or part of their liver to save someone. But also think about the families out there who have to make one of the hardest decisions of their lives about their loved one but that decision will save at least one life if not many, many more. Most of the people who are reading my blog know all about organ donation but for those of you who happen upon this and don’t think about it often.. think about it now. Get the word out about organ donation and how important it is to thousands and thousands of people out there living day by day waiting for that miracle to come.

Here is the quote:

“How thankful we are for a family who said yes on perhaps one of the most difficult days of their lives. Yes to giving new life to _____, ______ and possibly other children as well. Yes to accepting that their child was gone and good could come from it. Yes when no could have easily been the answer because of overwhelming bitterness, guilt or despair.”

Silly sayings

Nate is home sick with me today. He has had a fever since Sunday but it’s just a virus. He hardly ever gets sick so when he mopes around I know he really doesn’t feel well.

Today as we were driving to the doctors office he said to me: “Mommy, if daddy’s brother hadn’t died would he still be alive?”. It was such an interesting question. I think he just didn’t know how old Michael would have been if he hadn’t died and wondered if he would be alive. Nate’s mind works in mysterious ways. Then he said: “Did Michael (Matt’s brother) ever see us?”.  We talk about Michael on occasion but Max has never really questioned anything about him. It was just interesting to me that Nate asked about him today. I got tears in my eyes thinking about Michael and wishing the boys could have met him and he could have met them. They all would have loved each other so much!

Diversity

We happen to live in a very diverse city that is surrounded by very wealthy towns that are not so diverse. In the city I live in the public schools are not neighborhood schools. There is something called a choice program where the parents go and look at the five elementary schools and request their top three choices. About 92% get their first choice, 95% get their first or second, and 100% get one of their top three. The schools are all equally diverse. They are made up of 33% black children, 33% hispanic, and 33% other (caucasian being in that group). We happen to really like the schools and the diversity. Everyone is a minority. Everyone is different yet the same in that no one is exactly alike. Get it?? Anyway, there are a lot of people in this area who do not like the diversity and give our schools a bad reputation. And that really frustrates me. What frustrates me is that most of the people who talk badly about our schools do not even live in our city. So really why do they even care and why do they even have to comment. Someone at my nursery school is looking at the schools for their four year old and told me that one of the teachers (who does not live in our city nor have experience with the schools) said she would never send her children to the public schools. I also found out that the director of the program said the same thing. So annoying!! And our boys are getting an amazing education and are making tons of friends. I don’t know why it bothers me so much. The thing is it’s good for me that they live in our city and pay our taxes and send their kids to private schools. I just don’t like hearing the negativity surrounding it.  But really all that matters is my boys and their education and their happiness!

Lice

So I work in a nursery school a few mornings a week and one of my students had lice a few weeks ago. Yes, it freaks me out, but really in the scheme of things it’s just lice. And actually kids with clean hair get it more than not! So, it has nothing to do with being dirty or impoverished.  Because the little girl who had it lives in a wealthy town, the one next to mine! We had a lice check and there is this one little girl who freaks out when doctors look at her. So the first 2 times we had checks she left the room. But this time we had her checked since there was lice in our room. We did it for her and her family. Well, her grandma freaked out. The main reason she freaked out is because this little girl freaked out (not when she was examined or after) but the next morning and did not want to come to school. It’s really just her whole control thing and how she controls grandma and the situation and complains about coming to school but once she’s there she is fine. Well the grandma came up to me and was so nasty that the little girl had a lice check in school and that the family did not know about it before hand. I just don’t get people. There are bigger things to worry about in this life than this. Obviously she doesn’t have bigger things to worry about so latches on to little things like this and freaks out. What angers me is how she spoke to me and her whole attitude. We did not know we were having the lice check and I explained to her it was in her granddaughter’s best interest to have her head checked for lice. Ugh. The problem with the towns around mine and my nursery school is the sense of entitlement of these families and how they spoil their children. And the way they talk to me!

Random

My mom really frustrates me. She has had it easy for most of her life with no major illnesses and grandparents and parents who were healthy and lived long lives. Her own grandmother passed away in 1991 when she was in her 90’s and my mom was 50. Most 50 year olds do not have a living grandmother.

We got in an argument last night and another one tonight about really stupid things and it really stresses me out.  I had gone to pay my respects tonight for the chapter member who passed away. Plus I worked all day today and ran around like a crazy person and have had this sinus headache that just won’t go away.  And, at the shiva call tonight one of Ben’s daughters said the dialysis was what killed him. We are so far off from dialysis and hope we never have to experience it but it is scary. So then I called my mom and she got on my case. Ugh! Yesterday she was annoyed because we are going out to visit in a few weeks and she mentioned about going to dinner at her country club but no jeans allowed. I said then let’s eat somewhere else because I’m not going to plan that far in advance what we are going to wear. And I just can’t deal with that! She was annoyed with me because I wouldn’t just pack jeans.  Then tonight we were talking about the car rental and she said she didn’t order me a car seat because it was an extra $12 dollars a day and it’s the principle of the matter but she is not spending the extra money. We are not bringing luggage and shipping our clothes out and do not want to ship anything through. And I am not carrying the car seat onto the plane. She freaked out and started yelling at me that she couldn’t understand why I wouldn’t just bring my car seat. It would be nice to not have to deal with any extra stress in my life than I have to.  My life is stressful enough as it is that I don’t need this from my mom.

These are stupid petty things and in the scheme of things no big deal. I just don’t need or want this aggravation in my life.

Reading back on this it is a weird post with many random thoughts and sentences!!!!  But it’s what’s in my head tonight.

Sad news

A member of my local chapter of the PKD Foundation passed away over the weekend. He was in his 70’s and had ADPKD and his obituary said he passed away from complications of his PKD. I’m not sure all of the details but he had a transplant a few years back that was rejected and he was back on dialysis. I know he had to have part of his leg amputated a few weeks ago and then had a massive heart attack. It is just so sad to me. I knew him through my chapter and saw him a few times a year. I had recently seen him in September at the walk. He was always in such good spirits and so motivating to the rest of our chapter. This disease can be so very devastating. And to show how devastating it is for his family all three of his children have ADPKD and they do not know yet if any of the grandchildren have it.  The funeral was today and I couldn’t go but I am going to pay my respects on Wednesday night.