Thursday afternoon we headed to Stanford for Kiira’s appointment at the once-a-month EB clinic on Friday. It took us about four hours to do the 2-1/2 hour drive and Kiira slept the whole way. We thought we would get a good nights sleep, so we went to sleep early, but Kiira had other plans for us. Despite our noise machine, she either grunted or cried through the night–the crying in the night is unusual. Finally I pulled her in bed with us and although she slept, she squirmed her way down, essentially kicking me out of bed. So we began our day exhausted.
We headed to Stanford early Friday morning, not quite knowing what to expect. The hospital was much older and smaller than anticipated and while we waited for the elevator, we saw some older kids with EB. Although they were walking, they were fully wrapped in bandages.
We arrived to the office and after we checked in, a couple of the health care assistants approached us and said “This is the famous Kiira! We saw her on the news this morning!” We were shocked that the story had made it to the Bay Area since it was just a local Sacramento news station. We then went into a doctors office and waited for a team of doctors to visit–and what a team it was! 3 dermatologists, a physical therapist, occupational therapist, nutritionist, social worker, clinician (wound care specialist), and even a visit from the semi-retired head of EB trials at Stanford. They all commented on how great Kiira looks, as they expected much worse, based on her genetics that they reviewed before coming in. They had us unwrap Kiira’s hands–both at the same time, which we haven’t done since she was born. Not only that, they had her play and keep her hands free for an extended amount of time and she loves to look at her hands! We’ve been worried about some deformity in her left hand, and apparently that’s common with EB so we were taught a new wrapping technique, just as I was really getting our old one down. The new wrapping allows Kiira to move her fingers, exposes her finger tips so she can experience touch, and pulls her fingers in the right direction.
Of course, all this handling of Kiira did not leave her unscathed. She has a “bad” wrist and that skin got torn and later blistered, and later that night we noticed a blister on her bad pinkie and finger tip. We were told to allow Kiira play time with her hands every day, but it makes me so nervous because she is wild with her hands and has sharp, thick nails that scratch her wherever she hits herself. Plus, some fingers that are easily injured over and over. Not only that, but dressing changes already take me 1-2 hours, so allowing playtime increases that time significantly since she won’t be eating or sleepy when doing her hands, which makes wrapping nearly impossible on a tightly clenched fisted infant, resulting in even more injury. However, they reminded me that her playtime is important to her development and keeping her injury-free could delay her development, so it’s this compromise between skin integrity and development. Trying to fit in dressing changes, my other 2 kids, work, and household duties is getting tougher by the moment.
After we finished with Kiira’s hands, we unwrapped her feet and since she has no open wounds, we are now able to reduce the products we use on her feet, but it’s important we still separate her toes (we learned that even without injury, EB causes the skin to want to fuse together so fingers and toes will always need to be separated with something that keeps enough downward pressure to keep the skin from growing together). We also still pad her heels, but with reducing the moisture on her feet from all the Vaseline we used, we think we will see better healing.
The OT and PT gave us tips on how to help Kiira’s physical development such as plenty of tummy time, including holding her up on my shoulder–yet another thing I have avoided so I don’t cause her injury. They showed us how to push on her thumb pad to get her to extend her thumb since it always wants to stay clenched in her fist. We were told to pad her feet, toes, knees and hands when she starts crawling.
The nutritionist said she is currently eating enough for her age and size, but if she gets open wounds she will need about 1-1/2x as much food. There are ways to increase her calories without jumping to a G-tube, such as getting her to eat more at each meal to expand her stomach or add protein to her milk. Unless her situation changes where she develops reflux, esophageal strictures, or needs some other kind of surgery, Kiira does not need a G-tube.
The dermatologists felt that Kiira’s skin looks amazing. Sure she has some pink areas from her injuries at birth, but no open wounds and she is healing well. I know God is protecting her, but part of me is so fearful that it won’t last. We had gone a couple of weeks without blisters, but since the new wrapping procedure, we’ve had to pop 4 blisters and she has 3 tiny ones and some scratches. I feel so torn between going back to what we were doing to protect her skin, hoping it will get stronger as she gets older, but at the risk of causing deformity or delayed development. A choice no mother should have to make.
The other part of our appointment ended up involving Dr. Alfred Lane, a semi-retired Professor of Dermatology and of Pediatrics at Stanford, who has dedicated the last 25 years to EB research (see all clinical trials). Stanford is in the midst of a Gene Transfer clinical trial starting with 5 adults. They hope to have the 5th one in February and then the trial can include children. “The trial will include a graft…of the patient’s own skin that has been genetically engineered in the investigators lab to express this missing protein. The purpose of this study is to achieve proof-of-concept for this general approach to cell-based gene therapy in humans and to set the stage for further therapeutic extension in RDEB. The investigators will basically take a subject’s own cells, correct them in culture, and then transplant the corrected cells back onto them.” In this case, they are removing the mutation so that the skin can produce Collagen VII. We love that doctors like Dr. Lane are taking on “orphan diseases” (too rare to receive much funding for research), so they can help people like our sweet Kiira.
When Dr. Lane entered the room, he told us Yahoo!News had contacted him because of Kiira. Again, we were amazed at how the word was traveling around. We apologized for the intrusion to him, but he felt the exposure was good, because it gets awareness of these trials and research companies, and hopefully funding as well. He explained a couple of other trials in the works, but all of the trials only fix the outer skin, not the internal. The risk of doing the Bone Marrow Transplant (BMT), is that since it does affect the internal, you risk a systemic (bad) reaction, whereas if there is a bad reaction on the skin, it only affects a small portion. While I already see problem areas on Kiira that could definitely benefit from a skin graft, if we do the BMT, we will not be eligible for these other trials. So we still did not get approval to visit with Dr. Tolar in Minnesota to consult with him about the BMT (we could probably go if we pay out of pocket). Instead, we were told to find out why it’s so costly (true clinical trials are free), talk to patients who had it 2-3 years ago and hear about their experience, and since Kiira is looking so good for now, don’t jump into it–see how she does over the next few months or year and then decide if we still want to take the risk.
Of course the exhaustion, lack of food, and 4 hours of meeting with doctors started to catch up with me and I started crying in the office. I don’t want the BMT to be an either/or. I don’t want to wait 2, 3, 5, 10 or more years for a cure while I potentially watch Kiira suffer. One thing we did learn was that although Kiira’s genetics say she should be in a much worse state, there are RDEB patients with no collagen VII who don’t have nutrition problems (they can eat normal food–many people with EB eat mashed up food) and esophageal strictures, and they may only deal with blisters in certain areas. I’d like to meet one of these, since it seems incredibly prevalent in the EB community, but somehow people remain positive as though these surgeries and procedures the children endure are no big deal. Aside from giving birth, I’ve never been in a hospital–not being able to eat, placing a balloon in my esophagus, going blind, being in a wheelchair, not having use of my hands…these seem like a pretty big deal to me. I guess being an EB parent, these things become the new norm and you have to find the joy in the other things so you can get through these times.
We finally left Stanford around 12:30pm and sat in the car for 6 hours this time, due to traffic, and I almost felt like I was back at day 2 when they told us Kiira had EB–so much fear of the unknown. The long drive gave us plenty of time to ponder what we had been told, although we are not even close to making any decisions. We also began to read the many, many encouraging messages that were sent to us as the news not only went to the Bay Area, but was now traveling around the world! Some articles left out that Kiira had EB, which is important for everyone to know. It’s not something that can be cured with nutrition or vitamins. It’s a genetic condition. Her genes have 2 mutations that tell the protein to stop making Collagen VII, so it will take something significant to remove those mutations (someone else’s DNA through a BMT or a petri dish of her skin where scientists correct it or some other thing we haven’t yet come up with). Read more about RDEB as it relates to Kiira here.
Jason asked me how I feel about being told that Kiira looks great. I told him it makes me want to cry and I don’t know why. I want her to look great. I want all of these prayers to be answered and for her to be cured, but it also scares me that there’s something we can’t see or doctors won’t do anything for her now because she looks good, but when she starts crawling, will we see a huge difference? And that is why in order for me to remain positive, I have to go day by day, but that’s hard when you have to line up your child for an upcoming clinical trial or fight for her medical treatments.
This morning I did have an opportunity to speak to a father who’s son had a BMT 2 years ago at the age of 20. Although they see an improvement in new blisters/injuries, so much damage had already been done to his son (including extensive scarring, webbing of the hands and feet, blistering of the eyes, bone deformity, the loss of nails and enamel on his teeth, just to name a few), so to do a BMT early, before so much injury and pain has occurred, would likely be much more beneficial (which was my argument to the health professionals Kiira has seen). I have also spoken to 3 families who’s babies had the BMT in the last 8 months, and all are seeing positive results, but it’s still too soon to tell how positive. So yet another huge decision–go with a BMT that isn’t a cure, exclude her from any other trials, and could be very risky to Kiira’s life, but improve her quality of life even by 10% for a couple of years, or wait for something else to come along and in the meantime, just try to protect her and pray her esophagus, mouth, eyes, and hands and feet don’t experience the wrath that most RDEB patients experience. A choice no mother should have to make.
Despite the sorrow EB has brought into our lives, this Christmas we are filled with so many blessings as well. We cannot believe how generous people in this world can be. Sometimes I feel like there is so much bad going on out there in the news (as I’m sure many of you do), but please know that there truly is more good than evil. People have rallied around Kiira, sending their prayers and support, a ton of supplies (I think I need a better organizing system!), and generous donations. We are thrilled that we’ve met the goal to take care of Kiira over the next year. I am still hoping to get support from Ca Children’s Services for supplies, but having this financial burden taken off our plate for awhile is truly a blessing. We want to express our deepest gratitude to all of you. We pray that God will bless you 7x as much as you have given to us this Christmas.
Prayers for this week:
- Healing for Kiira
- A clear direction for where and when we should treat Kiira
We wish you all a Merry Christmas and pray this season is filled with joy!