Sunday, August 23, 2009

Christmas in July....important add-on

*A woman named Adrian Johnson had replied to my Christmas in July post, and I COMPLETELY forgot to add it to the post. However, I feel it is important enough to be on it's own. Please read what she wrote:

Oh Summer!!

I feel your "Christmas in July" offer is an answer to my prayers!! I know you are really wanting to help businesses, but I'm hoping you'll be willing to help me out with something different. I have been trying to figure out a way to help some dear, sweet relatives of mine & I haven't known what to do. They are trying to raise money for 2 double transplants (liver & kidney) for their 2 kids. The estimated costs of the transplants are $50,000 each (above what insurance will cover.) Here's a little background information about them...I got this info from a post on their blog. This was written last September.

Skinner Update

Most of you already know about our family and the unique trials we face. But just to make sure we're all on the same page, I want to give a quick overview of what life is like in the Skinner household. I apologize in advance for the length of this post...there's a lot to say!!

Claire and Benson were both born with an extremely rare genetic mutation in their liver that produces an excess amount of oxalate in their bodies. This disease is called Primary Hyperoxaluria Type 1. (PH1) Oxalate is normal in all of our bodies, but our liver only produces a small amount which then gets converted into whatever it needs to be. Their liver doesn't. Oxalate numbers in you and I is around 1.8. Claire's oxalate is around 64. Benson's is at 11.5. So what does excess oxalate destroys.

The kidneys are the first to go because it is their job to filter waste from the body. In that filtering process, it can only handle the overload of oxalate for so long...until they've had enough and eventually fail. Claire has had kidney failure since she was 2 months old and has been on dialysis ever since. Significant oxalate deposits have also b een found in her eyes and bones and is inevitably in other organs as well.

Benson's condition has not progressed as fast as Claire's. His kidneys are still functioning normal. No one knows why kidney failure happens when it does...and in fact, we wouldn't have known about Benson condition had Claire's diagnosis not been made. There are no signs of this disease...kidney failure is usually the first sign anyone has to tell them there's a problem. Biopsy of the kidney then shows the kidney saturated in oxalate crystals and it is then linked to PH1. Close monitoring of Benson's kidney and oxalate levels along with high doses of B6 vitamin (thought to help remove oxalate from the body) is his current treatment. Keeping him well hydrated (2 liters a day) is also very important as that helps keeps his kidneys clean and flushed of the oxalate.

Claire's treatment is a different story. She is currently on hemodialysis (done at the Children's Hospital) 6 days a week for 3 hours each day. Sunday truly is our day of rest!! Along with that, we do a different kind of dialysis, called pertineal dialysis, at home. She gets that done every night of the week for 12 hours (while she's sleeping). Ultimately, dialysis 24/7 would be ideal for Claire to remove the oxalate that is constantly being built up in her body. Obviously, that is not we do as much as we can! Dialysis is the only wa y, besides the B6 vitamin, to remove oxalate.

The ultimate cure: transplant! For Claire, getting a new kidney or liver alone will not solve the problem. She needs both. A new liver will stop the excessive oxalate production and new kidneys will allow her to be done with dialysis! With Benson, we are hoping we can salvage his kidneys by monitoring his kidney and oxalate levels closely and transplanting his liver before it causes damage. When to transplant his liver is still a big question.

And that's how things go around here!! Many questions are still unanswered but we are simply doing ALL we can to keep our beautiful kids happy and healthy (aren't we all?!!)

Since then they've endured a LOT. Claire has endured several infections. When she has an infection their daily dialysis is bumped up from 3 hours to 4 or 4 1/2 hours a day at the hospital. I can't imagine how hard this would be! This is only one thing on a LONG list of trials they have faced in the last several months. Claire's Mom, Natalie (my husband's cousin) is the sweetest, most optimistic, AMAZING Mom I know!! She has unlimited patience & is always willing to do whatever is needed for her kids. Her husband wrote this swe et letter to Natalie "from" Claire: (again, I got this from their blog.)

Happy Mothers Day!!

Dear Mom,

Happy Mothers Day to you. Wow where do I start. How about here, your the most AMAZING mother I have ever seen in my short time here on earth. Every morning you wake up at 5:45 am to read your scriptures, pray and get ready to take me to the hospital for my daily dialysis. The great thing is you are always happy to see me when I wake up, you always put a smile on my face just seeing you.

At dialysis I always hear other mothers complaining about their issues with their kids and themselves. Its funny that your the happiest and most cheerful person in the hospital. I have never heard you say a negative thing about my health problems which always makes me feel good about myself. I am so grateful I get to spend 4 hours every day with just you and me, our together time. Thanks for teaching me so much during our t ime together at the hospital. No matter what happens to me at the hospital you are always there to make me feel safe and comfort me.

When we get home I love playing with you, Benson, and dad. You are always so happy no matter how long the day has been for us. After dinner I love getting ready for bed so you can read my favorite books, pray, and do sweet dreams. Sometimes I can't wait till the morning so I can spend another day with you. I am so grateful that you are my mom, I don't know what I would do without you. I hope you have the best mothers day ever.

P.S. Thank you mom for saving my life every single day. I really couldn't live without you.

Love Claire

Claire (age 21 months) will have her transplants in the next 3-4 months. She is currently on the transplant list at the Mayo Clinic. Here's a little more information that I received from Natalie's Mom recently:

"Claire Natalie Skinner" was born on September 8, 2007 weighing just over 5 pounds. Jared and Natalie were very excited to have their first daughter. The diagnosis she has is: Primary Type I Hyperoxaluria. This is a very rare (only about one in eve ry million people are diagnosed with this disease, or in other words-only about 350 people in the United States) but a serious genetic liver disorder that results in very high levels of oxalate crystals. Normal dialysis cannot remove enough oxalate to protect the kidneys and other organs from widespread calcium oxalate deposition-so the organs "crystallize". The result is high levels of glycolic and oxalic acid (the same acid which normally causes kidney stones), which readily convert to oxalate. This leads to eventual end-stage renal (kidney) failure, which is Claire's condition at this time. Claire receives 108 hours of dialysis every week, plus requires a blood transfusion about every three weeks to replace her blood loss during hemodialysis. The usual average age of initial symptoms related to hyperoxalu ri is 5 - 7 years. Claire may be the youngest to ever be diagnosed with this disease, at two months. Since the oxalate crystals attach to soft organ body tissues, the oxalate attacks first the kidneys, with additional deposition often occuring in other organs (bones, joints, eyes, heart). Curative treatment involves combined kidney and liver transplantation."
(My side notes and current update: Claire's diagnosis is that the oxalate crystals are already visible in the retina. The vision specialists are certain there is some vision loss, but they are also certain she can see better than they ever expected that she would be able to. They are amazed! The bone scans show deposits in her bones, and th e Mayo Clinic is astonished that she walks, runs, and does stairs without pain. They are amazed! She is on blood pressure medicine for her heart, but I'm not certain if there is any heart damage at this time since the dialysis also affects blood pressure. Claire is fed entirely from a G.I. (gastrointestinal) feeding tube, by which she also receives her daily medications - I loose count exactly but I'm sure she receives over 14 m eds daily. Following transplant it is expected that she will remain on hemodialysis for up to a year or so to help filter out the oxalate as it sluffs off, since it will no longer be produced in "hyper" amounts. There is no cure, (only transplantaion) however two medications taken by Benson and Claire help to reduce the amount of oxalate that builds up by binding the crystals together so they are not as likely to attach to other organs. Benson takes the meds three times daily and ALWAYS has a water bottle in his hands to help flush out the kidneys.)

I would absolutely LOVE it if you could help get the word out about this AMAZING family!! They really need help raising enough money to get th eir sweet kids the transplants that they need to survive!! They are currently in the process of selling their home to try to raise some money. I have a lot more info about them, but I didn't want to overload you. I wish I could send you to her blog to read about what they've been going through, but her blog is private. If you need/want more info about them let me know & I can get it for you. Below is the link for their page with the Children's Organ Transplant Association. People can donate directly from this site & ALL the money goes directly to Claire & Benson. So far they've raised a little over $5,000 of the $100,000 needed. I have also attached a couple is a post about Claire describing what an incredible little girl Claire is! She is truly amazing! The other is is a collage page I have made for the m that will be taken around to businesses, ect. trying to help them raise money. As you will see, they are DARLING kids!!! Anything you could do to help ME help them would be absolutely WONDERFUL!!!!

Thanks again for the wonderful offer to help others! I love your blog & am always so in awe at your giving spirit!! Thanks so much for EVERYTH ING!!

Kind regards,

Adrian Johnson