Genetic Studies

Well, we finally got word on the long-awaited genetic studies.

They indeed found the missing gene in Claire that is causing this defect in her body and unfortunately they found the same missing gene in Benson. Our sweet Benson boy has the same thing. But how grateful we are to know and begin to be proactive about it.

As of now, Benson's kidneys are still functioning normal. In fact, the average age for people with this condition to get kitty failure is around 30 years old. Claire is the youngest person ever to have kidney failure from this condition. Before her, it was six months old. The oldest person ever was 70. Can you tell your is the first sign of trouble. So Benson could be fine for another 30 or so years! Or it could happen tomorrow. There's no rhyme or reason why it happens when it does. So instead of putting him through a transplant right now, when he could be fine for a long time, we're just going to keep testing his kidneys every three months or so. As soon as they start to show signs of failure, then will look into doing the liver transplant and still try to save his kidneys. So I guess we'll just have to live on the edge of our seats for the rest of our lives, never knowing when it might happen!! Ha ha ha! Funny, but basically true! He's taking the same B6 vitamin to help get the oxalate out of his body, just as Claire is. He does have a slightly elevated oxalate level, around 9. Normal in you and I is below 2. So that shows that something is beginning, but not progressing at the elevate rate Claire's is.

The plan with Claire is still the same. Try to get her as big as we can so she can get her combined kidney liver transplant when she's 25 pounds. She's pushing the 12 pound mark right now so we're almost halfway there! She's up to 12 hours on peritoneal dialysis and they may end up pushing that to 14 hours if we can't get her offsite number below 50. Right now it's 65, so we're praying for 50 next Monday when we test her again. Still doing tests on other parts of her body (eyes hearts and bones) to make sure the oxalate isn't damaging other areas in her body.

Just the normal stuff going on here!!!  But we are very glad that we were able to find the missing gene in their blood and not have to put either child through a liver biopsy to confirm this genetic disorder. 

Always gotta look for the silver lining on each beautiful, fluffy, (dark) cloud!

Claire Update

Our dialysis nurse called yesterday and they had some great news for us. Claire's oxalate has remained below the 70 level. It is at 67 and a month ago, it was at 65. So virtually the same. We are all very excited about that and know the prayers of many (more than we are even aware of) are being answered. Thank you for everyone for your continued prayers for a baby girl!

They are going to be doing some precautionary tests on Claire within the next few weeks. Because of her need for the B6 vitamin, Claire is at risk for peripheral neuropathy. That means some kind of weakness in certain parts of your body, having to do with the nerves. It's hard to see any signs of it now, as she is still so young; but they do want to stay on top of things and ensure they are working on the offense instead of the defense. We will also be doing another echo on her heart to make sure oxalate isn't getting into other organs (her heart) in her body.  I am so grateful for the medical care we are able to have. What a blessing it is to live in this country where these things are readily accessible and available to us.

Still no word on the genetic studies. Dr. Ford was going to call the Mayo Clinic to see if he can find out what is going on with those studies that were sent back in the end of January. That will hopefully help us know what the next step needs to be with Benson.

Claire is now starting to be able to sit up by herself! She is also began to eat some baby food. She is not as accepting of the food as Benson was, but hopefully with more exposure, she'll start chowing it down!

The Terrific Two's

Yesterday was one of the classic two year old days, at least as far as nap time went. Benson went down for his nap a little better than usual, not putting up much of a fuss at all. I didn't hear anything from his room for the first 45 minutes of his nap and thought yay he went down just great and is sleeping like a champ! Little did I know what was going on behind a closed door. Then the doorbell rang-it was the UPS man-and after that I heard some noise coming from upstairs. Great he's not asleep like I thought. Or he was asleep and the doorbell woke him up. A few minutes later I decided to go and see if I could figure out what was going on. As I walked around the corner, he was looking out the door and quickly shut the door as he saw me approach. I quietly went in and to my surprise, saw baby wipes all over the room. Then I noticed there was a white paste on some of the wipes. Upon further examination, I recognized the paste a diaper rash cream. Then it all started coming together. His Mickey Mouse stuffed animal was covered in diaper cream with a diaper that he was obviously trying to put on too! Not only Mickey but Mr. bear and the majority of his bedspread and sheets were spotted with cream!

Wait, it gets better.

I haven't said a word yet as I begin to take out the sheets. I put the sheets, stuffed animals, and other tainted items in the hallway and got another blanket and pillow for Benson. I said "night night" and left.

So I started the laundry and didn't expect him to go to sleep. Another 30 minutes went by and I suddenly heard his heard his door open and close real fast. As I walked upstairs, I thought I smelled something unusual. Outside of his room, I saw the extra blanket and pillow I had given him. I opened his door and saw him sitting on his bed with a bottle of hand sanitizer in his lap. There was hand sanitizer everywhere! I first smelled his mouse to make sure he hadn't eaten any. He hadn't put any in his mouth, but it was just about everywhere else.  Blanket and pillow outside of his room were covered in sanitizer and it was all over his mattress pad and rug.

Oh, the joys of toddler hood. I suppose this is a say not uncommon to almost every parent of a two year old. What a boring (and much cleaner life) we would have without these inquisitive, "I can do everything by myself" little-guys!

Relax

Today I got my first facial! It felt so good! I was surprised how relaxing it was to just let someone else pamper me. I'll definitely have to do it more often!

Benson is staying with Jared's parents in Idaho for the week. It is a very strange feeling to have him gone and you have such a quiet house. It made me realize how easy taking care of a baby is compared with taking care of a two year old! Although I miss Benson and will be grateful to have his sweet smiling face and burst of energy back in our home, it has been a nice break for me. I've been able to catch up on a lot of things around the house that keeps getting put off. It has also been nice to spend a little more one-on-one time with Claire and give her a little more special attention.  Children are a blessing, but it's been nice to take a small break! Quiet but nice!

Miracles

Yes, miracles really do occur. Last Tuesday, we heard from a nurse, Mary, that Claire's latest oxalate count was down to 65! The gold his whole time has been to get it below 70. If it was not able to get below 70, we are going to have to possibly start Claire on hemodialysis. This would not be something preferable for Claire because of her size. Also, it would be fine for me to take Claire to the hospital is three times a week for hours at a time. But I don't know what we would have done with Benson during that time if it had to occur. But, the main point is, that it is truly a miracle that her oxalate has dropped so significantly. When we took her to the hospital at two months of age her oxalate was at 156. The normal level in you and I is below two. The leading professionals in this field say that Claire's oxalate needs to get below 70 in order for it to be safe for other organs in her body. And we would have to take whatever measures necessary to get it to that safe level. First, peritoneal dialysis, then chemo, and then a liver transplant if necessary. How blessed we are that we only had to take the first step. Claire will still have to have a liver transplant, but at least we will be able to put it off until she gets older and bigger. On top of all of it, we had to cut the vitamin that gets oxalate out of her body in half because she was getting too much of it in her and it could cause negative sensory side effects if there's too much of it. Also, only a small percentage, less than half, of the people who even take this vitamin even respond to it in a way that removes oxalate from their bodies. So against all odds, Claire has been blessed not by accident or coincidence but by miracles!!

Service

I have to just write a quick note about the amazing example I received from my friends about service. Since Claire's difficulties began, we have had dinner brought to our house every week. While in the hospital, we had dinner every night. Since we've been home, I have told the sisters in relief society that I don't need anymore brought over. But there have been a couple of friends who insist on bringing dinners every week. Carey Dennis and Brenda McLeish have been such a great example of service to me. They say they know they don't have to do it anymore, but just want to help out and lighten her burden in anyway they can. Although I almost insist they don't bring any more over (simply because I don't want to burden them) they still continue to do so even two months after we've been home. And I just have to say how appreciative I am of it. What a blessing a simple things such as a dinner can be. My days are so busy with taking care of Claire's needs. It has been such a great burden lifted for me to know that there are at least two days (plus leftover days) that I don't have to worry about fixing dinner!

I have learned a lot from their active service and hope to give back to others as they have so greatly given to me. This since I will stay with me for the rest of my life and has change the way I look at service. Do it because you want to, not because you have to.  Do it when others insist you don't need to. Because they probably still need it. Do it out of love.

Walk

 Today was the first day of the year that I've been able to go out for a walk! It was one of the best things I could've done for myself. Benson and Clarah came along in our new double stroller and I think they both loved it as much as I did! It was so refreshing to breathe the fresh air and move my legs. Benson was also able to play on the swing inside and had the time of his life! Claire enjoyed watching him go up and down here and there. It was a great way to spend the hour.