Perfect Match

So I got confirmation today that Katlyn has a perfect 10 out of 10 match!! Also, we were told that it would be ideal if the donor was male, as females that have been pregnant, can lead to a higher risk for graft versus host disease, and Katlyn's donor is a 30-year-old male!! I also learned today that for Katlyn's conditioning we will use a reduced intensity protocol. This will mean that they will give Katlyn less chemotherapy but more immunosuppressant medication. We will do this in order to avoid unwanted toxicity, and it will decrease rejection to the lowest. I know that this means her chemo is still going to be awful for her, but not as bad as it could have been. We also have tentative dates and are just waiting on the donor to confirm. Katlyn's admission to hospital to start conditioning would be on July 9 and then her bone marrow transplant with be on July 18. I can going through a whirlwind of emotions right now, but I just want to get my little girl better. I am extremely grateful to this unknown donor. What an amazing human being. Our hero.

So not a whole lot has gone on over the past few years with Katlyn as we have been patiently waiting for her gene therapy to start working. Well, Unfortunately we are finally at the point where we can say that it has not worked. We recently checked Katlyn's bone marrow to see if any of her stem cells very carrying the new gene. This is very important because it would mean that she was now producing these cells on her own. Well, she is not. Some of these cells are still inside of her but they are old and no new ones are being produced. So just like that, it failed. I can go on and on about how frustrated and upset I am, but I'm not going to. We had to try. Gene therapy just looked so perfect, but we knew from the beginning that it is still in the experimental stages. Not perfected yet. I do, however, feel as though Katlyn has contributed to research with her condition, thus making things easier someday. Actually I think she has helped a lot. So now we are moving on to the next chapter and Katlyn will be going for a bone marrow transplant in Montreal. We have activated the donor list and are aiming for her transplant to be at the beginning of July. Of course this depends a lot on the donor. Katlyn is in great shape for transplant. She recently tested negative for the norovirus, which she has carried for more that 2 years now. She is also no longer anemic and she is thriving well. She is growing!!! Her feet are now a size 2.5!! Her liver, which has been quite distressed over the last couple of years, also seems to have calmed down a bit. The way we see it is that we need to give Katlyn the best fighting chance at the healthiest life possible. She wants a dog more than anything!!! I pray someday she might be able to have new best friend puppy, and that is what we are focusing on right now. Katlyn is not an infant, and I have always been open and honest with her. She knows about transplant. She doesn't know all the details, but neither do I. I will however tell her as much as I can (without scaring her) along the way so that she can be prepared. For now though, we will focus on watching the calendar, knowing that it is quickly approaching. We will focus on one day maybe having a puppy, and on all the things we can bring with us so that she will be occupied during the many weeks in isolation. I will be blogging again so that all of our friends and family may follow along and someday Katlyn will be able to read as well. And to you praying type-- your prayers really have carried us through all of this so far. Please pray that my daughter will soon be healthy.

I know. I know. I know. It has been ages since I have wrote anything about Katlyn. I think it is real time I got started at it again since it has worked so well in the past at allowing me to get all of these feelings off my chest. Things have been just a roller coaster over the past here. Here's hoping that 2012 is a great year for Katlyn. Here's hoping that she will finally get healthy.

So recently we had an appointment at NIH and things went pretty good. The much dreaded appointment was really going to be all about discussing how Katlyn's gene therapy is not working how it should, and what we are going to do as a plan B. Katlyn caught norovirus two years ago and she has been struggling with it ever since. Its at bay, but it just won't go away. It has really started to take its toll on her little body. She had been up to 57 lbs, and dropped down to 41 lbs. She is now anemic and does not absorb vitamin E. So Katlyn's parents, we decided it was time to do something about it, before the virus gets her very ill and its too late. Also, Katlyn has not been able to go to school this year. She is supposed to be in kindergarten, but it is just to risky to have her around so many children, so she stays home with me.

So Katlyn has been receiving IVIG orally. At first I thought it was outrageous!!! But it honestly has worked in making her feel better. Every time we put her on, she actually gains weight and doesn't feel sick all the time. Unfortunately it hasn't been enough to rid the virus from her gut, and she continues to live with it. So, our next plan of action is to put Katlyn back on Adagen. Hopefully that will be enough to rid her body of the virus. In the past we have always been told that giving Katlyn the Adagen would be deeming her gene therapy a failure. However, there is some new data that may suggest that there is a chance it may actually help the gene therapy to work. This makes us so hopeful!!!!

The problem with Adagen is that it is not available commercially and it is so so so expensive. Because it is not available in Canada, our insurance company said that they would not cover the cost. So our next approach was to ask the New Brunswick government for help. I was really shocked when they also said that they would not help with the cost. Typically this drug is covered under a provinces catrostrphic drug plan, but NB does not have one. So determined as we were, we appealed the insurance companies decision to not cover the drug. In the end they did indeed decide to cover the cost at 80%. At about $350,000/year, this would still be too difficult, but luckily there is a clause that says once our annual copay reaches $3000, the policy kicks in 100%. This is awesome awesome news!!!! Apparently we are supposed to come up with the upfront cost of the drug and then be reimbursed. LOL!!! Yeah, who has $30,000 just sitting around. Also, the $3000 copay would be on the first shipment. We still haven't figured out those little details yet, which stresses me out beyond belief. However, we did get most of it covered so far. I know its going to work out. I just keep praying!!!! We don't have that kind of money, even if it is $3000.

So once Katlyn gets this Adagen, she should be strong enough to get rid of the virus. This drug is a treatment for her condition, but not a cure. As her doctor recently told me, we need to look at it as a way to get her healthy enough to discuss the plan B. I don't even want to think about it. Every time I do, it just makes me so incredibly sad.

A bone marrow transplant.

For now, I am only going to focus on getting my baby healthy. Why she has to go through so much, I will never ever know. It seems so incredibly unfair. I am trying to just have faith in God. Its a challenge because sometimes I just feel so helpless, angry and sad. I have seen in the past though, that prayer is very very powerful. Now, she needs prayers more than ever. Happy new year everyone. May your best day of 2011 be your worst day of 2012.

It Sucks!!!!

I know it have been ages since I have shared anything. Really, we were very busy just living our lives. Just doing our best to be as normal as possible. However now as I sit here, writing this post, I know that we always be anything but "normal".
When Katlyn's doctor first diagnosed Katlyn with ADA SCID, he told us that there are many many other things that can go with the condition, most unknown. I really needed to know what he meant, and he went on to describe behavioral issues among other things. At this point, I remembered Katlyn had never actually passed a hearing test, so I asked him if it was possible that she be hearing impaired. We immediately preceded in getting her properly and fully tested, and sure enough Katlyn was hearing impaired.
Since then, I've always known that other things may come along, but I don't dwell on any of it cause there's no point. I just have a "we'll deal it with it when it comes" mentality. I must admit though, the last few years have been very very frustrating to say the least. I have never met anyone as special as Katlyn. EVER! This little girl loves life and just looking at her makes me so incredibly happy. Yet she is constantly faced with new challenges in life. It angers me that she was born with the condition in the first place,but here she is 5 years old, and we are still faced with the fact that she cannot just go to a child's birthday party for fear she will get sick.
We recently learned that Katlyn tested positive for norovirus, and it is apparent that she is having a very difficult time ridding the infection. For sure, she has had this infection since December. This is a very very scary realization for us. It is possible that Katlyn could get sick, and not get better. So while we were trying our best to live our lives as normal as possible and allow her to live outside the bubble, we had to put the brakes on. This year Katlyn was able to enter pre-school. Her class is very small, only eight kids, but kindergarten doesn't look so promising. We attempted to vaccinate Katlyn, but we were unsuccessful.
Because of this virus, Katlyn has dropped a lot of weight and lost her appetite. She went from a chubby little 57 lb baby, to a skinny 41 lb little girl. After all her weight loss, her medicine was not properly adjusted (there is a lot of it too). I believe that because of this, one of her medications has caused damage to Katlyn's liver. She was recently diagnosed with non-alcoholic fatty liver disease.
So on top of her having a poor immune system, being hearing impaired, and having cancer; she now has fatty liver disease.
I was warned in the beginning that other things would accompany Katlyn's condition of SCID, but nothing could prepare for how I would feel now. It saddens me to no end that she cannot just go to school with all the other kids. I thought we'd be past all of this by now. Katlyn is five years old, and her immune system is still a terrible threat to her.


AND IT SUCKS!!!!!

Off to NIH

I know that it have been way too long since I have been able to write on here. A lot has been going on since my last write up, which has made us busy busy busy. Well, for starters, I just started a new job, after not working for more than 4 years. I have to say. I really do love my job. However, i find it a challenge to be away from home all day. Since Katlyn and I have nver been separated since she's been born, it's torture to only see her for a couple of hours in the evening.
Katlyn is doing very well though. Her immune system is still not where we want it to be, but I can say that we have definitely started to live our lives outside the bubble. Katlyn has been sick twice, and both times she was able to fight it off. To be honest, it was very veery scarey for Johnathan and I. She was fine though, which shows us that she does have somewhat an immune system. And what Katlyn does have, works great! I don't really think twice nowadays if I need to go into a store, Katlyn comes with me.
On the other side of things, Katlyn recently had one of her tumors removed. We were not really expecting to hear anything other than we were successful in getting the whole thing. Unfortunately, that was not the case. We suspect that this tumor is probably bigger and deeper than any of her others. We went quite a bit deeper than we had with the last one, but still it was not deep enough. All borders of the part they took, are still positive for DFSP. So we go to NIH tomorrow so we can meet and discuss what our next step will be. Johnathan and I are still in favour of surgery if possible, as anything else could have a negative effect on her immune system. The way we see it, is that her immune system is the most important thing. Without it Katlyn would probably be very sick, and she may not get better. That is not a place we want to go. When you think about the possibility that everything we have worked so hard to achieve, could possibly be reversed because of a stupid chemo drug, it's very hard for us to think any other waay.
So off we go once again. To be honest, I have no idea what we are going to conclude. Is surgery even possible? Johnathan and I have discussed the fact that her first surgery was done in Canada by a Moh's surgeon and a plastic surgeon, and the scar at this point is barely visible. Unfortunately the second scar is not the same. She has a scoop in her skin from where they took the tumor. I think we're both in agreement that it's definitely beneficial having a plastic surgeon as well as a surgeon. I think they understand scars and how they will lok in the future, which gives us an advantage.
Katlyn is well though. She is definitely growing up. I cannot believe she is almost four years old! Wow! Where does the time go?
So I will do my best to get on here a little more often, to update Katlyn's story. Katlyn, you're my little angel, and Mommy knows everything is going to be fine!!!