Day 263-Treating DOCK8 Deficiency at NIAID

This video shows a huge portion of my life(without me being in it). Welcome to NIAID! I love this video because I have grown up in this hospital. I have relationships with these doctors that have studied me and have known me since I started going to NIH in 2001. Brittany is one of the DOCK8 family that I met several years ago. Welcome to part of my world! smile emoticon



Praise God for Dr. Su, Dr. Freeman, Dr. Hickstein, our nurses, friends, and everyone involved at NIH!:)
Love,
Karly

Day 261-Karly's Story

I would like to share all the links to Karly's story since Oct. 13, 2013 to present on this page of the blog. The first video is Karly's take on how, when, or if to choose a bone marrow transplant without a match. The second video is on Feb.1 after her first-ever of its kind, ground-breaking, pioneering haplo-transplant for Dock8. The third video and story is relating a document we used in March of 2014 to give Karly a voice in the event of her death.

https://youtu.be/Bl-CsLyRJsA

http://well.blogs.nytimes.com/2015/03/28/teen-advance-directive-end-of-life-care/?_r=1

This photo is from March 2015. She is beaming!

Day 260

Karly had a trip to NIH on March 11-13. It went well. She is still doing well. All is well. She continues to have either a virus show up on her skin or some GVHD. Neither are bothering her way of life. Her heart and kidney remain stable. We still pray for a full recovery of these organs. She still has some undiagnosed joint pains in her knees, ankles, and feet. X-rays were taken and show some lytic lesions. We will be meeting with a specialist in May. She "badly jammed" her left index finger while playing with the youth at church. We had it x-rayed in Muncie and were told it was fine, just jammed. About 4 weeks later while playing at church again, she hurt the same finger only worse. We had it x-rayed again. This time we were told it was an unstable fracture. I took her to a hand specialist who said that she had a hairline fracture on the first x-ray. Because it had been diagnosed improperly, she continued to use it normally. She wouldn't have crushed the entire knuckle joint the second time had she known. They cannot set it, do surgery, or replace the knuckle. It will need to re-grow(remake itself). She is to keep it moving, so it won't set itself in a particular way. God can make the impossible possible. Please keep praying for us.

Karly's allergies are being tested periodically at NIH in a study trying to determine the extent of allergies post-transplant. Her testing in January revealed that milk could be negative. It will not be challenged until a challenge lab is set-up in a hospital environment. Karly found out the hard way that she is still extremely allergic to egg. She quickly went anaphylactic Tuesday morning when she accidentally ingested some egg that was in a packet of oatmeal...it is now being referred to in our home as "sketchy oatmeal". After 50mg of benadryl, I had to give her an Epi-pen injection, and quickly get her to the hospital. Fortunately, we only live 2 miles away. They quickly accessed her port and gave her a large dose of Prednisone. They were about to paralyze her for an Endotracheal intubation, when finally the Prednisone, along with the other meds started to work. She couldn't really talk or hardly breathe. They admitted her into the Cardiac Intensive Care Unit overnight in case it flared again. After she proved that she could eat on Wednesday, she was released. She will continue Prednisone for about a week with some benadryl. This was the first time in her 20 years I needed to use her Epi-pen. Things can change in a blink of an eye, but our God never changes. He is plenty big enough for all circumstances. Thank you for your continued prayer.
Love,
Mom

Day 202

Things have been going well. She had a little bump in the road in January with her skin about 10 days after she stopped the tacrolimus. We flew to NIH to get a biopsy. As usual, it was atypical. It looked a little like it could be GVHD, but still looked like something viral also. It turns out, it could have been a little of both. However, upon cutting the specimen deeper, it looked viral. It has cleared up now. Things like this can happen. It is best to just roll with it. When I told Karly that we needed to go to NIH to get her skin biopsied, she wasn't totally into it. It seemed like an inconvenience. She had to change a few plans. BUT, what happened when we were there was totally a God thing. Medically, it was reassuring to know what was going on with her skin, and it was prudent to catch it earlier than later in case it was something that could be a real problem. After we saw her doctors and had finished the biopsy, labs, vaccine, and port access and flush, we had the afternoon to visit 3 dock8 patients. We were blessed. For us, meeting dock8 patients is what Karly had wanted after Kelsey died. For others, it is reassuring to know they are not alone. Each of them had never met another person with dock8. We answered many questions, shared some pictures of Karly before and after transplant, and shared contact information. Every detail of meeting these people and the timing was not by chance. God had interwoven this emergency visit to NIH into something beautiful. Karly could see what she thought was a total inconvenience was God in action. It definitely encouraged and strengthened her faith. She was asked earlier that week to share some thoughts at church. When praying about it, she clearly heard the word "interwoven". As she reflected back at 2014, she could see all the interwoven details leading up to her transplant and even now. Even looking back as far as 2009 when she was diagnosed with dock8, her cancer, Kelsey pioneering a double-cord peripheral stem cell transplant. Kelsey's death, then Karly's renal artery stenosis and congestive heart failure, her trip to Panama City Beach, her ICU month, her decision to go ahead to pioneer the haplo-transplant, these things are interwoven together in a way only God could do. At some point in the future we will be chronicling these events to show God directing us along the way. For now, I want to leave you with what Karly shared at church on February 1, 2015. You can watch it at unionchapel.com, watch messages, 2-1-15. I will post her thoughts here as well.
Love,
Mom

"After reflecting on last year’s events, I learned something huge. I began to see how God’s plan is interwoven…with timing, transformation, and what I call divine appointments. To try to keep this as short as possible I will be skipping much of the story, but focusing on the interwoven points.

In January, my doctors became weary of my mysterious hypertension and began searching for the cause. We found Renal Artery Stenosis was causing this hypertension. This caused concern, but so much confusion as to how to treat it. As we were seeking advice from others outside of NIH, it created a new circle of doctors in Indiana who ultimately could focus on the kidneys and heart with the direction of NIH.  I was diagnosed with Congestive Heart Failure at the beginning of March…no one saw this coming! During this process, I was in school and involved with Campus Crusade for Christ. When I heard about the Spring Break Outreach trip to Panama City Beach, Florida, I had started praying about whether that was something I should join.  God was tugging on my heartstrings, and I knew I needed to go to Panama City Beach with Ball State Cru. This conference taught me about sharing God’s word, and the importance of drawing nearer to God. During that week, my Congestive Heart Failure worsened leaving me struggling to breath. NIH flew me directly from Florida to them and immediately into the ICU. The timing of when this happened was not by chance. (It just so happened that…) My mom’s boss was vacationing in Florida only a few miles away, so when I had no convenient way, he helped get needed medication to me while down there and transportation to the airport. I spent the rest of the month in the ICU. NIH knew that I needed to get back to the Indiana doctors for my heart and kidneys, but they had to stabilize me first. Finding the doctors in Indiana prior to this was not by chance.  As soon as I got in their care, my renal arteries (which were 90% blocked) were ballooned, and BP stabilized thereby giving my heart a chance to not work as hard. Another key point during my ICU stay at NIH was the introduction of a document called “Voicing my Choices.” This document gave me a say about my comfort, my care, and my funeral if it came to this. I’ll get back to this in a minute. In April, I was tired of my body failing, and I knew that this was only going to get worse and worse. So with more tugs on my heartstrings, I made the decision to proceed with the Haplo-Transplant. This all seemed like it was happening so fast.

I began to think about my family, my friends, and the possibility of meeting my Creator in Heaven. I had to prepare for the possibility of death, and I was brought to the situation of my older sister.  In preparation, I was in conversations with God. I was seeking His peace. At SERVE in June, during one of the evening “Experiences,” I was prayed for and felt encouraged. I found the peace that passes all understanding. The next week I was at NIH starting the pre-transplant qualifying tests. Again, the timing of prayer was not by chance. God had prepared me. My family had already set aside 2 weeks for a summer vacation meaning my brother, Tyler, had his time off from work which was God’s perfect timing for donating his bone marrow while I was starting chemo. On July 25, I had my life-saving first of its exact kind of transplant. This was the first Haplo-transplant for DOCK8 in the US. They call me a pioneer. Its success has paved the way for the next one in March. I have been blessed with my 14-yr relationship with NIH. This relationship is not by chance. As they have watched me grow up and know who I am and what I believe, my doctors trust me to be a spokesperson for DOCK8; and in a way God has made me an ambassador of hope for my fellow DOCK8 family. I get to meet DOCK8 patients and share encouragement, hope, God’s faithfulness, and my journey.  In reflection of this, I was thinking about how my sister Kelsey and I shared this DOCK8 disease. It was comforting for us to share this disease together. When Kelsey lost her DOCK8 battle, I found this new emptiness. I knew that I wanted to meet others with DOCK8. This began a new path of reaching out and finding others with DOCK8. A path God has blessed. My mom and I had an unexpected trip to NIH last Thursday evening to Friday evening. I didn’t want to go. It was an inconvenience. This short 24-hr trip was a Godsend though. I got a skin biopsy, then I was blessed by spending the rest of the day talking with three DOCK8 patients that I found out were there. I am the only DOCK8 person whom each of them has met. One will be the second Haplo-transplant for DOCK8 in March. She was so happy to meet me and ask questions, as I was elated to answer her questions and meet her. What was most exciting was talking with the family from Iran. We had briefly stuck our heads in earlier this month to say, “Hi,” but without a translator it was tough, but they remembered us. God’s timing was yet again perfect, for a translator of Farsi had conveniently met us at the door of the Iranian girl.  We answered so many questions. They were so open. We took photos, shared emails, and developed relationships. This was amazing!

 Back to Voicing My Choices, this document has led to an article in the New York Times. It has also led to my sharing more about this document to other DOCK8 patients. In order for the writer of the story to get a grip on our family she watched the story I did at Union Chapel October 13, 2013. She shared this with her editor and team. They want to expand the story, so another story is in the making this week as a videographer comes from NY to Muncie to follow us around for 5 days. God’s divine appointments…aren’t they miraculous? His plan is an extravagant weave which interlaces my life in ways I can’t comprehend. By honoring God in all things, He makes the impossible possible! Where does this lead me next? I cannot wait to see. Luke 1:37 says, “For with God, nothing shall be impossible.” I truly believe that!"

Day184-6 months post-transplant

Karly was at her Congestive Heart Failure doctor on Friday. What a great report we were given. The EKG is normal, so the medications must have been the culprit. Her heart sounds good. She may want to add another heart drug so it can work less hard, but all in all GREAT! Her kidneys are a little happier. She will be getting another ultrasound of her kidneys in the next month or two to see how the pressures are going. If it has worsened, then she will need to have them ballooned again. If remaining the same, then just keep doing what we are doing and add the heart medication. Since stopping the medications 2 weeks ago, we haven't noticed much. Her skin has been acting up atypically, but so far she can manage and live with it. Big news was that she tested negative to milk at her 5 month appt. They have a new person at NIH that will be setting up a food challenge lab that Karly will qualify to be part of when it is ready. This is exciting. If this can happen, then there is hope for other foods to follow. She can only imagine.

She started her class 2 weeks ago. She is able to enjoy many things that make her happy. She is able to sleep more normally. She can take everything in pill form now and without cutting anything in half. She is eating without getting any food stuck. She has normal people hours. It is so cool not to travel to NIH every 3 weeks, but I have to say I miss our people there. We do stay in touch though.

Dillon went to be with our Lord Jesus on January 12. His family needs continued prayers through this time and times to come. His younger sister also has DOCK8. She will be much in the same thought processes as Karly having lost an older sibling to this disease. It makes me so sad. I feel this loss for this family and what is to come. Please stand with us in prayer. "For our citizenship is in Heaven, from which we also eagerly await for the Savior, the Lord Jesus Christ." Philippians 3:20

Kelcy will be traveling with her mom later this month to see if her mom can be her liver transplant donor. They have a long road to travel. Please stand in prayer with us for them.

We just don't go to far ahead of ourselves. We certainly have enough to handle in just one day, don't we? "The mind of man plans his way, but the Lord directs his steps." Proverbs 16:9

Love,
Mom

Day 169

     1 Thessalonians 5:16-18, "Be joyful always; pray continually; give thanks in all circumstances, for this is God's will for you in Christ Jesus." This verse is one that describes where we are right now.
     We are so joyful in Karly's progress. Her doctors claim her as their poster child for the DOCK8 Haplo-Bone Marrow Transplant. They are so pleased with where she is at this point. They even brought in a couple Johns Hopkins doctors to affirm their decision to take her off the nasty Tacrolimus drug. This is huge. They fully expect her to continue to do well. What could happen? Well, she might feel sicker as the cells really go after the infections still in her body. She could develop more GVHD of the skin and gut. BUT do we expect this, NO we do not! Is she still very susceptible to infections, the flu, etc, yes. She must be very careful. If you know you are sick or have been with someone who is sick, please keep you distance. She is wearing a mask and using hand sanitizer, but we must remain careful. She went through a battery of tests on Thursday. She had her cortisol stem test and Endoscopy on Friday. She failed the cortisol test badly, but they are confident this will eventually return to normal. Her EGD was so encouraging, because the eosinophilic esophagitis is getting better. Before you could visually see the eosinophils because the disease was very severe, but now they will need to be counted under a microscope. They challenged her on Thursday in the clinic with swallowing a couple pills. She did it without any problems. This is huge. Now she can start taking all her medications in pill form. Two advantages of this are: taking them once a day, and she will feel less nauseous. The liquid forms of these drugs are nasty. To summarize some of the test results, I'll start with her lung function which appears to be better(not normal), her ECHO is holding at 40%(big improvement from 15%), her chest CT looks good, and her sinus CT is better. Her sinuses are one place the released cells will be working on. Her kidney function is still a problem, but we fully have hope this will get better off the Tacrolimus plus a few other drugs. Her BP is stable although runs a bit high. She appears to be holding some fluid, but as the Creatinine improves we can give her better heart medications. The only negative issue was her EKG which is showing a Long QT syndrome (LQTS) which is a heart rhythm disorder that can potentially cause fast, chaotic heartbeats. These rapid heartbeats may trigger a sudden fainting spell or seizure. In some cases, your heart may beat erratically for so long that it can cause sudden death. This might explain some of her erratic almost fainting spells and lightheadedness. She is wearing a heart Holter monitor for the next 48 hours. A long QT is often associated with medications, so this is a big reason for dropping 4 medications. Again, we hope this is the cause, then it is easily fixed. She will be seeing her Cardiologist on January 23 and getting a repeat EKG. As you hear the good and not so good, please thank God for all that He has done and lift up these new concerns.
     This visit was speedy fast and packed full, but we still managed to see most of our favorite people(yeah, you know who you are). Our hearts remain heavy for Dillon and Kelcy. Dillon, a 20 yr old with DOCK8, who was transplanted in March 2014 remains on a ventilator sedated. He needs a miracle. Kelcy, a 10 yr old with DOCK8, has a tough road ahead. First, she will need a liver transplant, then the bone marrow transplant. Her mom writes, "Please send us tons of Prayers!! We're getting ready to go back up to Maryland/Washington. We will be going through the whole process of Kelcy & I being tested to make sure everything is good enough for the Liver Transplant, and I am healthy enough to be her living donor. I'm so excited things are moving forward but nervous at the same time. It will be the last week of this month." Our friends Ellen and Erin got good news yesterday. Erin is in remission from her cancer, and she is almost engrafted. They will get to travel home on Monday. Erin has GATA2 Deficiency Disease(another primary immunodeficiency disease) and was on Karly's transplant floor getting ready for her transplant. Her mom, Ellen, and I became fast friends this summer when we met on the transplant floor. We are so thankful for this good news. I was able to meet face to face the mom of another young DOCK8 girl from Iran who is Day 3 of her transplant. I had spoke on the phone with this mom a few months ago via a translator. I was very grateful to meet her, her daughter, and her husband. May God grant us favor with this relationship. There are so many things to pray about, hence the "pray continually". Please pray with us for these things.
     We give thanks in all circumstances, the good and not so good. God is faithful and trustworthy. We believe this no matter the circumstance. My co-worker lost her 2 oldest girls, 18 & 16, on January 2 in a tragic accident. The circumstances feel unbearable, but we know that God is faithful and trustworthy. Please pray for this family. Pray they put their HOPE in Jesus, and they will be protected from depression and self-pity. Hope connects us to heaven where her girls are residing. May they cling to the Father and their burdens be lightened. Romans 12:12, "Be joyful in hope, patient in affliction, faithful in prayer." and Psalm 46:1, "God is our refuge and strength, an ever-present help in trouble."
Thank you my friends!
Love,
Mom

5 month birthday

I felt like I just needed to give a brief update as today is Karly's 5-month birthday! She is doing so well. This is the most normal we've seen her in 5 years, so we have much to celebrate. She still goes for weekly labs, and we have been very happy with the results. The Creatinine is still high, but has been 1.9 for 2 weeks. We continue to just monkey around with the dosing of things and hang tough until we can start to wean them. We ask for prayer during this flu season, since the vaccine wasn't correct this year. We are remaining very vigilant with mask and hand washing. We return to NIH on January 7 for her 6-month check up even though it is early. Why? The good news is that she will be able to take the PTA class she had to drop last spring because of her heart and renal condition. What a praise! We are not sure how long that visit will be until they see her, but it shouldn't be very long. We look forward to seeing some friends we've met and also look forward to meeting others.

We had a Blessed Christmas! Being together and making those memories...fun, fun, fun!

I have been missing Kelsey. I've been dreaming of her. I've been wishing to give her big gushy hugs. I am thankful that I will see her again. I also think of my dad who died 5 yrs. ago tomorrow. We reminisce often about his silliness, his stories, his ways, and we cherish the memories we have as we continue traditions we had with him.

All I can say is love those around you for we do not know what tomorrow will bring. Live life with thanksgiving for all you have is from God.

Love,
Mom