Archive for December, 2009

Wishes

I wanted to write this happy blog today about how we are skiing and just enjoying being a “normal” family. And I am enjoying them and am so happy my boys are doing something “normal” families do. But my head is elsewhere. This woman who I have been emailing with for a while who lost a baby to ARPKD is now pregnant again and it looks like the baby has ARPKD. It is just so sad to me.  With her first pregnancy the 20 week ultrasound was “good” and then she didn’t have another one until 34 weeks where she had no fluid. I am not sure when she delivered but her first baby did not survive. She is pregnant again and again her 20 week ultrasound looked “good” but one at 24 weeks showed possible bright kidneys. She had another one this week at 26 weeks and her fluid is going down (but still within normal limits) and the kidneys still look bright and are getting bigger. I feel so horrible and helpless for her.  And I’m not sure her doctors know all there is to know about ARPKD nor have a lot of hope. At least from things she told me with her first pregnancy I am not so sure. I think they have convinced her that all babies with ARPKD will die or at least all of her babies with ARPKD will die.  She did not have a C-Section with her first pregnancy and she had no fluid and the baby’s kidneys were very large. The guru in the field often talks about how there are so many mutations of the gene and there is this one mutation that is almost always fatal but then every once in a while it’s not. And really most of the research they are doing with the disease at this point is not to cure the disease but how to get the more severe kids to be like the milder kids. The crazy thing with ARPKD is that every child presents in such a different manner, even within the same family.  I pray for this friend of mine that it will present in a different manner for this baby and that her second pregnancy will have a much better outcome then her first. I can only imagine the fear she must be feeling right now. It is not unknown to her anymore and now she knows what can possibly happen. When you have your first child with ARPKD you usually don’t know what can happen and probably have never heard of ARPKD. But when you had a baby die from ARPKD and are now pregnant with a second baby with ARPKD, I cannot even fathom the fear. So one of my New Year’s wishes will be for this friend of mine and her unborn baby with ARPKD.

December 31, 2009 at 11:30 am Leave a comment

Check up

The boys had their six month check up last week with the nephrologist. For the most part they are both status quo. They both have 100% kidney function, which is amazing!! Max’s platelets jumped down but I know they can change daily and he is still in the normal range. The liver doctor at NIH said we should plot it and if it is a downward graph then we should talk about scoping even if he is still in the normal range. It hasn’t really been a downward graph yet though. We will see what happens with his platelet numbers in May at NIH. Other than that Max looks great!  Gabe looks good kidney wise, but is now below the 7th percent for weight. Possibly the nephrologist is now concerned but is still kind of passing the buck, which is frustrating.  The last time we were there he didn’t want to blame the ARPKD or the size of his kidneys but this time he did say that it could be related. And I thought maybe growth hormones were for weight also but he said only height.  The nephrologist is also concerned that Gabe is constantly wet and wants us to do a bladder sonogram. I personally think it is just the excess urine he has but will do the sonogram just to make sure. We have that appointment tomorrow.  Overall I know this was a good appointment and things are fairly status quo, but I really wish we didn’t have to even deal with it!

December 27, 2009 at 9:32 pm Leave a comment

Silly sayings at the Karl house

My friend who writes an awesome blog often has posts that she titles “spoken in the mutant house”. Tonight Gabe said in the car that his tummy hurt him. I asked him where and he said in the middle. Then he said “my stomach is killing me”. I had said that last night after dinner!! Then he said “everything inside my tummy is killing me”. Interesting…. he often complains of tummy aches especially when he is in his car seat. I think it’s his kidneys all scrunched up but could be wrong. But I think it’s so ironic that he said everything in his tummy was killing him. It was so cute how he said it but sad too.

December 25, 2009 at 7:46 pm 1 comment

Chinese Proverb

You cannot give from an empty vessel; to give to others, you must fill yourself.

December 22, 2009 at 7:28 pm Leave a comment

Sad

A really nice cousin of my father in laws passed away on my birthday and I am so sad about it. Matt and I met him once a few years ago and since then I have somewhat kept in touch with him by emails. He lived in Provincetown, Massachusetts. He had just donated to our walk and sent a nice note. I’m not sure of the details but my father in law said he got some weird infection and passed away the next day. He was only 64 years old.  Since I have known Matt between the two of us we have lost I think 10 relatives. Some were closer than others but wow that’s a lot. This makes 11. Sad.  Life can be so scary. I would like to have no death or illness in our lives but that just doesn’t seem like it will happen any time soon.

December 21, 2009 at 10:58 am Leave a comment

Frustrated

I am still so amazed and frustrated by the misinformation that doctors out there give their patients. I have been reading a blog of a pregnant woman whose baby has cysts on the kidneys. They met with a pediatric urologist who first diagnosed ARPKD and then changed it to ADPKD because the look of the cysts.  The mother questioned the diagnosis of ADPKD because of a lack of family history.  According to this doctor: “it once was believed that ADPKD had a 100% penetrance.  Meaning, if you have the gene you got the disease.  However, more current thought is that the disease can skip generations.”  These people are under the impression that they may be carrying the gene for ADPKD but never develop the disease. I am not a doctor but I do know that ADPKD is a dominant disease and you HAVE to have the disease to pass it on. It does not lay dormant in your body. Of course it is different in everyone and presents in different ways and at different times in ones life but it is just shocking to me that this is what these people were told. And what is also frustrating is the lack of education and information on ARPKD and when a doctor is presented with a case of possible ARPKD that might look different than the norm or actually might be not as serious as what you typically hear about then they don’t want to give a diagnosis of ARPKD. My two boys are a prime example of this. Max definitely did not present in a typical fashion and even Gabe at this point having 100% kidney function is not typical. And actually the first pediatric nephrologist we saw who is considered “very good” in the field and is at a good hospital would not give us a diagnosis of ARPKD. Interesting since the DNA testing done showed ARPKD. These doctors that give no hope for survival and then these doctors that don’t even know that ARPKD can present in different forms really frustrate me!!!!

December 18, 2009 at 2:49 pm 1 comment

Yesterday was my 39th birthday!!

And in honor of my b-day I am posting this poem by Washington Irving:

“There is in every true woman’s heart a spark of heavenly fire, which lies dormant in the broad daylight of prosperity; but which kindles up and beams and blazes in the dark hour of adversity.”

December 16, 2009 at 5:28 pm Leave a comment

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