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Monthly Archives: November 2014
The only clinical trial open to Kiira’s diagnosis and age is the bone marrow transplant in Minneapolis. A couple of helpful conversations with the parents of participating EB patients and and a review of the process is making them seriously consider this as an option for Kiira. It scares them to death because Kiira would have to go through a week of chemo and then go through the bone marrow transplant, most likely using one of her sisters as a match, and take on so many risks. She would probably be hospitalized for at least a month, but some have stayed much longer. A bone marrow transplant is not a cure, but would deliver collagen VII to Kiira’s skin as needed. Some problem areas, which they can already identify are her calf and heel; may remain problem areas until gene protein therapy is approved for her use. However, the way they look at it is: Kiira will end up with these risks and more just with EB and if there is a chance to give her a better life, why wouldn’t they take it? Of course, they still need to see how things go over the next few months and if she remains mild, they wouldn’t pursue it, but right now, they want to get the ball rolling since so few patients are taken. Thankfully Jason and Kirsti have jobs that would probably allow us to work from anywhere, so even if they ended up in Minneapolis for months, they could make it work.
To learn more about the procedure you can read it here: http://www.bmt.umn.edu/patients-families
So new prayers are needed to help them with this decision. If doors open for them to do it and she is a candidate for it, then they will take that as a sign that this is how they should proceed, but if not, then they will just trust that God has other plans for her.
This post from “Help Anton” explains in detail why they are considering a BMT for Kiira despite the risks involved:
As I have mentioned, we are possibly seeking a bone marrow transplant for Kiira based on her genetic results (if she even qualifies). I know some have reservations about it because of the high risks it imposes, but I feel like the post from “Help Anton” below explains our reasons so well. When I talked to Kiira’s dermatologist about it, she felt it was too risky, but told me that we don’t have to worry about her hands and feet fusing until she is about 2. Kiira wouldn’t need an esophageal dilation until she is about 5 and the earliest skin cancer appearances in EB patients is at about 8 years old. Hm, and I want my baby to go through all of those things, plus numerous infections, extensive scarring, nutritional issues, internal damage, physical developmental delay, daily pain and medication and more? While we continue to pray for miraculous healing for Kiira so that she wouldn’t have to go through a BMT or a life with EB, we know we also need to be proactive. We don’t even know if Kiira is a candidate for BMT, but with 2 mutations that result in no collagen VII production, we want to follow up on any possibility that can give Kiira a better quality of life.
Help Anton Post
“I have had a few people ask me why we are doing the bone marrow transplant now instead of waiting for the gene therapy that Dr. Tolar is working on. I thought it was a great question so I’m going to answer it here just in case some of you were wondering the same thing or were just wondering why we are moving forward with the Bone Marrow Transplant.
We have known about the Bone Marrow Transplant pretty much since we found about about Anton. We have followed Dr. Tolar’s work closely and we were very hopeful that at some point Anton would get the Bone Marrow Transplant done.
The first two years Anton was home we just didn’t think the risk of getting the Bone Marrow Transplant done outweighed the risk of not doing it. He seemed pretty healthy (although he was hospitalized several times for infections). He didn’t seem like he was in a lot of pain, and overall he had a great quality of life.
As more time has gone on I have have seen countless children and adults lose their battle with EB. Most of the people who have passed away these past few years have Anton’s type of EB and most of the people who have passed away have died before they turned 20.
The harsh reality is Anton most likely won’t live to see his 20th birthday unless we do something to intervene.
During the past 6 months or so we have noticed Anton is in more pain than not. He is still happy and joyful, we can just tell that his EB is affecting his daily life. It seems like his quality of life is not what is could/use to be.
Anton had a normal echo done on his heart in October of 2013 then in July of 2014 his echo showed that the left ventricle of his heart was dilating. At this point his heart is still functioning normally but I talked to the cardiologist at the patient care conference and he said almost always in patients with RDEB once the left ventricle starts dilating it will eventually turn into cardiomyopathy. (Cardiomyopathy is a weakening of the heart muscle or another problem with the heart muscle. It often occurs when the heart cannot pump as well as it should, or with other heart function problems. Most patients with cardiomyopathy have heart failure, “google”)
If Anton loses heart function he will no longer qualify for the Bone Marrow Transplant.
Dr. Tolar spoke at the Patient Care Conference we went to this year and it was so amazing to see how far his research has come. It is FAR less risky than it was 2 years ago.
It is hard to know how much Anton needs this when you see mostly happy posts on his facebook page. The harsh reality is Anton’s eye lid gets stuck to his eye ball at night and when he opens his eyes it literally tears the top layer of his eye, he has a large wound on his knee that has NEVER healed in the almost three years he has been home, he is terrified to poop because the one time his stool was hard it tore the lining of his bottom causing extreme pain, he gets blisters in his throat that pop which makes him throw up blood, his fingers are fused together and he has lost almost all the function in his right hand because his thumb is fusing to his hand, bath time is painful instead of fun, he can’t scratch his face at night without tearing all the skin off his nose. This sweet boy suffers so much and if we can help relieve just a little bit of his suffering we want to.
Knowing that if Anton loses heart function he will won’t be able to have the BMT done, seeing how much pain he has been in, and knowing that the Bone Marrow Transplant could at the very least give him a better quality of life we felt like it was the best option for Anton to move forward with the transplant.
We are in close contact with several people who have had the transplant done and we are very hopeful for what the future will hold for Anton post transplant.
Dr. Tolar is an amazing doctor and he truly cares about people with EB and their families and I know that he won’t stop fighting for a cure.
We are thankful that God has allowed us to move forward with the Bone Marrow Transplant. We are praying for God’s will in all of this and praying that God will be glorified through Anton’s life.
For from him and through him and to him are all things. To him be glory forever. Amen. Romans 11:36″
I thought some of you might be interested in knowing what our daily wound care process entails.
- Cut all of the needed supplies
- Unwrap one extremity at a time and gently wash with water
- Slather petroleum dressings with vaseline or Aquaphor
- Put small pieces between finger/toes to prevent webbing
- Continue to wrap hands/feet up the wrist/ankle as far as needed
- Wrap each finger with the dressing (we don’t do this to the toes)
- Add a piece of Mepital (a thin foam pad) to the heels to prevent damage when Kiira kicks her feet
- Wrap hands/feet with stretch gauze
- Cover hands/feet with tubular bandage
- Cover hands with mittens
- Slather Kiira’s other body parts in vaseline or Aquaphor
Jason does the feet and I do the hands. One of us keeps Kiira calm or feeds her and holds the hand or foot while the other does the wrapping. The process has been taking us about an hour once a day when she is cooperative. If she is fussy, it can take us nearly 2 hours. Kiira currently has no open wounds, so we’re just waiting for the old wounds to finish healing and preventing new ones from coming.
We follow this Stanford video approach for an EB baby: http://dermatology.stanford.edu/gsdc/eb_clinic/eb-videos.html.
If you prefer to read about it, we use this procedure:
The past week has been eye-opening for Jason and me. We received a ton of encouragement, prayers, and support. We feel so loved and know that Kiira is loved as well! Thank you all!!
On Friday we received an email from Kiira’s geneticist telling us that based on her presentation they are classifying her as Recessive Dystrophic Epidermolysis Bullosa – Generalized Other (or previously known as non-HS). We were feeling slightly better about this diagnosis, but still had some doubts, because both mutations show patients that were classified as generalized severe (HS). We also found out that both mutations cause no Collagen VII formation, which means that no matter how much we try to protect Kiira, her skin won’t ever produce it and she will always be at risk, externally and internally and usually no Collagen VII is classified as severe. However, we have to keep remembering that Kiira has her own genetic make-up and some of that could override the lack of Collagen VII, making her have a more mild case. Whether she is non-severe or severe, EB will affect her drastically.
Some have told us we should get her a GI tube to keep her from losing weight and on anti-reflux medications right away to prevent severe, irreversible damage to her esophagus. So far Kiira is still eating really well and doesn’t spit up. However, it’s always in my mind to be aware of any little changes in her so that we make sure she isn’t getting internal damage.
We then talked to an EB mom who is traveling to Minneapolis to get her 5-month old a bone marrow transplant. The idea of such a drastic measure had barely crossed our minds, especially so early in her life. We have just kept praying that a miracle would happen and Kiira would be cured of the disease without any medical treatment, which can still happen, but after the conversation, we realized sometimes we do have to take action. Although Kiira might be presenting mildly for now, we learned that can change. Another conversation informed us that usually between 3-6 months we can see if things are getting more or less severe. A recent post showed us that even after a couple of years, things can take a turn for the worst, so this EB thing is all over the place–we can never go into a day thinking we’re safe from it’s hold on us, which is no way for us or for Kiira to live, and is why we’re now looking into our options to help better Kiira’s life.
The only clinical trial open to Kiira’s diagnosis and age is the bone marrow transplant in Minneapolis. A couple of helpful conversations and a review of the process is making us seriously consider this as an option for Kiira. It scares me to death because Kiira would have to go through a week of chemo and then go through the bone marrow transplant, most likely using one of her sisters as a match, and take on so many risks. She would probably be hospitalized for at least a month, but some have stayed much longer. A bone marrow transplant is not a cure, but would deliver collagen VII to Kiira’s skin as needed. Some problem areas, which I can already identify as her calf and heel, may remain problem areas until gene protein therapy is approved for her use. However, the way we look at it is Kiira will end up with these risks and more just with EB and if we have a chance to give her a better life, why wouldn’t we take it? Of course, we still need to see how things go over the next few months and if she remains mild, we wouldn’t pursue it, but we want to get the ball rolling since so few patients are taken. Thankfully Jason and I have jobs that would probably allow us to work from anywhere, so even if we ended up in Minneapolis for months, we could make it work.
To learn more about the procedure you can read it here: http://www.bmt.umn.edu/patients-families
So new prayers are needed to help us with this decision. If doors open for us to do it and she is a candidate for it, then we’ll take that as a sign this is how we should proceed, but if not, then we’ll just trust that God has other plans for her.
Kiira had been doing really well over the past week. We weren’t seeing anything new and her wounds were healing very well, but a few days ago she kept rubbing her face, causing a rash. We’re not sure if she is itchy or just a wild newborn who likes to fling her arms when she’s upset, but the rash hasn’t improved. We also discovered a couple new, tiny blisters on top of existing ones on her legs, which is where the scarring comes in. Every time we bandage her hands and feet we run our fingers between hers to make sure there is nothing webbing together. We’ve freaked ourselves out a few times when we see dead skin from one finger that looks like it’s connected to another finger, but we realize it’s not. So this is our reality.
In the meantime we’re close to finding an in-home nurse to help us out so that Jason doesn’t have to leave work early every afternoon. Miia (our oldest daughter) was really sick over the weekend, so Kiira and I lived in our bedroom all weekend while Miia infected the rest of the house and family. We pray that Kiira stays well as we don’t want to compromise her immune system since it’s so busy healing her skin. Being housebound for the past 4 days has driven us all crazy, but hopefully we’ll be able to get out soon!
Prayers for this week:
- Kiira and the rest of our family stays well
- Discernment about when God is opening doors for us regarding Kiira’s future
- Continued healing for Kiira
- Patience for Jason and I as we try to juggle the 3 kids, work (I’m likely going back to work in 2 weeks), and daily life.
- That we bring in the right nurse to meet Kiira’s needs
Thank you again for your love and support. We could not get through this time without your prayers, words of encouragement and and help with various tasks like research, ordering supplies, and bringing meals. We truly appreciate the blessings so many of you are pouring over us.
So many of you have asked how you can help us. We love all the support you want to provide, so here are a few ways:
- Pray: pray for total healing, for strength for Jason and me to care for Kiira in the best way possible, but also have energy and time for our other girls, and for comfort that we can feel God is with us through this journey
- EB awareness: no one has heard of EB until you know someone with it. Even many doctors and nurses have never come across this rare condition and because of that, it doesn’t get much research funding, wound care supplies aren’t covered, and people are afraid of it. Let people know about EB and how it affects families in so many ways. You can read more about Kiira’s diagnosis here: http://www.debra.org/dystrophic
- “Like” Kiira’s Facebook page to follow her progress: https://www.facebook.com/kiirakinkle
- Caring for Kiira: while we are fighting to get insurance to cover the costs of supplies or get the MediCal waiver and CCS to help with an in-home nurse and supplies, we have set up 2 ways you can donate to Kiira and it’s tax deductible for you or you can buy supplies directly from Amazon:Option 1:
Http://novatofirefoundation.org: click on donate. There is a form for mail donation, or email link for info.
Checks can be sent to:
Novato fire district
Attn: Novato fire foundation
95 Rowland way
Novato, CA 94945
Or call 425-878-2690 and donate over the phone
Make sure you put in item line or form or if you call that it’s for Kiira’s fund and through the foundation. 100% of proceeds will go to caring for Kiira.
We also have the ability to accept credit cards, so you can find me or a family member who can swipe your card and it will go through the foundation.
Donate through Elk Grove Church of Christ and all proceeds will be tax deductible and go to Kiira. You can add a donation on PayPal here: https://www.paypal.com/cgi-bin/webscr?cmd=_s-xclick&hosted_button_id=PQUP48MK6Y6RW
Purchase supplies for Kiira from Amazon: http://www.amazon.com/registry/giftlist/9814Y67RB1OB
- Sign up to bring us a meal. We have really appreciated the meals people have already brought to us as it allows us time to care for Kiira and our other 2 girls. We have it set up here, but you will have to sign in to see it:https://www.mealtrain.com/view/?id=b4csy9CPa5A%3d
- Donate to an EB research fund such as DEBRA.org or http://dermatology.stanford.edu/research/research.html.
Please do not feel obligated to give. Your prayers and words of encouragement are needed the most. Thank you for your love and support of Kiira!
6 years ago yesterday I had to say goodbye to my first child due to a miscarriage. The event rocked my world and I thought I would never recover. I still remember the raw pain I felt during that time, but after 6 months, I finally found the strength to try for another child. Since then, I had 2 beautiful, healthy daughters and we decided to try for our 3rd. We conceived Kiira the week that one of our closest friends died tragically and she was born the week of his birthday. I spent a lot of my pregnancy in fear of how I would handle a 3rd child and when we contemplated “Faith” as her middle name, I wondered if I could uphold the meaning of her name in my own life, especially after she was born with EB.
Over the past month I’ve tried my best to hold on to my faith–to believe God can and would heal Kiira. Then we found out she had dystrophic EB–not exactly the diagnosis we prayed for. Today, we got our genetic test back and found it’s recessive–again, not what we were praying for. However, when we talked to the dermatologist about the results and then met with the geneticist, I felt this odd peace and strength, which I can only attribute to God and the prayers that so many of you have prayed for my family. Both doctors feel Kiira is a mild case based on her presentation, but we still don’t understand the genetic results. Jason and I decided to get genetic testing as well to see which gene each of us carries–more out of curiosity than anything, since it doesn’t change the fact that he and I are healthy and Kiira has EB, and that won’t change.
The first mutation shows that Kiira cannot produce Collagen VII which is essential for binding the lower layers of skin to the upper layers. Unfortunately, this is not a favorable mutation, but we’re reminded that our bodies are made up of so much genetic coding, that we don’t know how our other genes will interact with this mutation and what it will end up looking like for Kiira. We know she can wear clothes and a diaper and she is eating and gaining weight. We haven’t noticed any trouble with breathing or reflux, and she seems healthy and rarely gets new blisters. We know some with RDEB are not this fortunate. I often find myself looking down the road, wanting to know what challenges we’ll face with Kiira, but everyone tells us to take it one day at a time. Stay focused on wound care, try to minimize infection, and maximize nutrition–those are our tasks for each day. We are complemented on our wound care approach (thanks to the Stanford videos and Kaiser nurses), but sometimes I still want to scream about how unfair it is that my child cannot spread her fingers, hold my hand, touch things like a normal child should be able to. On nights like tonight where she is so amped up, that it takes us nearly 2 hours instead of 1 and I’m beyond exhausted since I’m lucky to get 2 hours of sleep at a time, I just want to throw in the towel and give up. But there is her name…”Faith”. A constant reminder that I’m not alone and even though things aren’t going my way, there is someone there to walk along side me.
So when I worried about the struggles I’d face with a 3rd child while I was pregnant, I really had no clue what was in store for us. I sometimes get overwhelmed, but I really try to take one day at a time and it helps me get through the day. I’ve also tried to keep busy and get back to some of the routines I had before Kiira and that helps me keep my sanity. As we learn more about the genetic results over the upcoming weeks, I expect that we’ll have slightly more understanding of what could be in store for us and our sweet baby, but I know that I need to keep holding on to the faith that it’s not just genetics that determines Kiira’s outcome–God plays a role in all of this and He can heal Kiira.
Kiira has now been home with us for as long as she was in the NICU. Those days already feel like so long ago. Last Monday we met with Kiira’s dermatologist in Walnut Creek. She studied at Stanford, worked in their EB clinic, and still helps with the EB camps. We will meet with her 2-3x a year and go the Stanford Clinic at least once a year, starting ASAP if we can get in for Dec. At first the dr felt like Kiira has recessive dystrophic EB (RDEB), but told us she doesn’t like to make a clinical diagnosis and we need to wait for the genetic test. After she went back to read how recessive and dominant manifest in newborns, she recanted her statement, but it created a huge pit of fear in us. We were only scheduled for a 15 minute appointment, but we had a million questions and she wanted to take pictures of all the wounds, so we had to unwrap and wrap everything back up. 2 hours later, we were told we were doing great with wound care and to keep focused on that and nutrition. It was very hard at first to stay focused on those 2 areas when she told us how RDEB can affect nearly every body system and if she has it, we will see specialists such as an orthopedic surgeon for the inevitable webbing of hands and feet, Gastroenterologist to put a balloon catheter in her esophagus for when her esophagus becomes too scarred to allow the passage of food, optometrist for potential blindness, cardiologist, nephrologist, occupational therapist, physical therapist, nutritionist, and probably a few others I’m forgetting. Plus, she suggested that we should probably see a psychologist ourselves to help us through these life changes.
Of course, if it’s dominant, we are less likely to need any of these resources, but the seeds of doubt had been planted, so we turned to prayer which got us through the next couple of days.
Since we were seeing more blisters appear, we also went back to being more careful with handling Kiira so we carry her around on a synthetic sheepskin pad, turn her pants inside out so the seams don’t rub, and try to be gentle with her as possible. She was wearing cotton gowns, but one flexed her foot, knocked off her bandaged and caused a blood blister on her already bad heel. She screamed in pain on and off through the day, which tore at my heart. Yesterday I changed her feet bandages by myself since Jason returned to work and had to pop 2 more blisters on that heel, but it doesn’t seem to cause her pain like it did on Thursday. It’s 2 steps forward, one back, but we are still seeing great healing progress in other areas.
This past week was EB awareness week. It’s quite amazing how different people approach the condition. It seems like so many have a positive attitude and a lot of hope, but they have their bad days too. I also have my good and bad days. One day I can go without shedding a tear and another day, especially when Kiira seems to be in pain, I can’t stop the tears. Some days I wonder how I’ll ever be able to do this, and other days I feel like “I got this.” I read comments about not letting EB define us or Kiira, and I sincerely hope I get to that point, but I’m still in shock about it all and feel like it does define us for now. I truly want Kiira to grow up in a positive environment where people, including me, tell her “Yes, you can do that!” instead of “no, that will hurt you too much” and don’t look at her with pity, disgust, or as a burden. She will be aware of how everyone treats her and I just want her to know how loved she is and she is strong enough to accomplish anything. I tell this to myself as much as to anytime else, because it’s hard not to treat her differently when I have to carry her on a pillow, worry for her health constantly and even minor things like how or if we should keep travel plans we have throughout next year. Should EB stop us from the life we want to live and share with our kids? I’m guessing not when we can help it, but I’m sure there will be times when we don’t have a choice either.
So as we continue to face the unknown, keep us in your prayers. We are praying for total healing which might come best with a diagnosis of transient dominant DEB, since that one goes away with infancy–for reasons unknown the condition corrects itself. Or as Jason says, “reasons unknown” is God’s miracle.