News On Sam

As you know, previously with PH (primary hyperoxaluria) patients, there is Type I and Type II Primary Hyperoxaluria and Samuel never fit into either of those groups (the liver biopsy last year ruled that out)  and he was in the group of PH patients we called PH Non I / Non II.  Samuel gave a blood sample a few months ago for a new research trial that was going on for children in this third group.  We spoke with his doctor at Mayo on a phone conference on Friday.  The study is complete and the new research finding has shown that there is a very small group of patients (that Samuel is part of) within the Non I -Non II group that do have similarities and this group is now being identified as PH Type 3 patients.  Doctors from Israel, France, and one from the US have found a genetic mutation on chromosome 10 that all of these children have in common.  More research has been requested of Samuel in the future.

Obviously, any new finding about hyperoxaluria is a great thing.  The more information research can give us, the better care Samuel and others who suffer from this horrible disease can get.  But on the flip side, his doctor did say we have been extremely blessed with overall good health for Samuel in regards to kidney's and stones and that it may not always be this way (probably will not always be this way).   She said he will have more stones.  He always has a high amount of oxalate that the kidneys have to filter.   Too much oxalate passing through the kidneys, whether in the form of a stone or not, causes kidney damage.   Renal failure in type 1 and type 11 is almost inevitable.  For Type 3, the verdict is still out on long term outlook because it literally has just been identified with the research Sam just took part of. 

Samuel's plan of care may or may not change at this point.  Our doctor from Mayo is going to get in contact with our doctor at Emory and talk about the best plan right now.  We are blessed that God has given Sam and huge huge thirst for liquid.  Sam drinks and drinks.  This is such a blessing.  Nothing is better for him than water and keeping his kidneys flushed.  I just need to make sure he is always drinking, especially in the summer when you loose a lot of liquid sweating and such.

I read the medical article published on the study that Sam took apart in last night.  It flies so high over my head.  So I plan to start breaking it down next week and learning all I can about what they found.  They want him to participate in a study in the Spring which we will have to fly to Rochester, MN to take part in.  I will do a lot of my own research before we agree to do that.  But obviously prayer for God's wisdom in this would be appreciated.   

So much for saying we were so good in the previous post.  We were literally hit all in one week with this. Sam has had strep throat which went to his kidney's causing back pain.   Now that we are on an antibiotic, it  is feeding a candida over growth  in Sam's body.  The  main symptom being  behavior.  I feel like the sweet little boy that was doing so well in terms of Asperger's has left,  and in his place is a very irritable and irrational little boy.  It breaks my heart Sam has so much on his plate.  I struggle with being overwhelmed with it all.  And because no one really knows what in the heck hyperoxaluria is and because very few people know he has Asperger's I semi feel very isolated in this struggle.  I am thankful for family. Family that loves me and loves Sam.  Family that is prayerful and supportive.   Hopefully much more info will come on type 3 and it will make our path a little straighter and our journey a little more predictable.   I do hate unknowns.