One in a Trillion: Alyssa’s medical journey

We hired a lawyer to do our living will and estate planning, and we set up a trust. I am so deeply thankful that our friend urged us to do it after he took care of his parent’s affairs. Since we own property in more than one state, our assets could have been tied up in probate (probate is when after we die, court sorts out our case and a bajillion other cases) for 5-7 years, leaving our children to possibly rack up medical bills paid by Medicaid… until they get their inheritance and then need to pay Medicaid back as well as debt for properties that could not be sold while tied up in probate. WOW. We set up a trust (kind of like an invisible 3rd person who owns your assets so you can skip probate) to protect our children in case we die. We considered which relatives to be guardians of the kids, which is a tall order since Alyssa is medically complicated. We are thankful and relieved to finish this task. I did not realize how medically complicated children can change your life (and death) planning. Obviously we have zero intention of dying anytime soon. It’s just good to be prepared.

The courier came to pick up Alyssa’s urine samples for the trial. Collecting and shipping off pee is weird. Sharing a pic of this might be weirder, so I won’t.

We completed Trial visit #2. This time only Alyssa and I went. I drove. She got a nephrologist visit, blood draw, Hib vaccine, and an ophthalmologist eye exam. So far, so good. She remains in the trial until something is found that excludes her from the trial. So we are proceeding with scheduling Trial Visit #3 in April.

Alyssa gets paid to participate in investigational drug trial. Not all trials pay participants. Earning money makes her happy. She bought herself a plush giraffe. Her friends agree that getting paid a certain amount is worth getting the dreaded needle pricks. 💰

Brother’s been having bloody noses that come in waves for a few days. They happen a few times a year, but they’re getting difficult to stop bleeding. We’ll see an ENT later this month. Brother’s also got swollen hands and feet, which got better after 3 days. So weird.

Al is reevaluating his priorities. He’s always given so much to work, but now is such a tender time for kids. So what about the next 5 years? Our kids will be off to college in little more than that. Stuff to think about.

We went to Iowa for Visit 1. Visit 1 is the screening process to see if she is still eligible for the pegcetacoplan trial. No medication is given until visit 3. Today, she gave urine and blood, had a 12-lead EKG, and a chest x-ray. Adolescents get the advantage of being able to use recent biopsy and do not need to redo the biopsies required by the trial. We all signed consents to join the trial. We signed away our firstborn. I’m kidding. Kind of. Now we wait to see if she gets called back to proceed to Visit 2, possibly in a month.

This medication is to be given twice a week, via a 30-min subcutaneous infusion pump. This is a 1-year trial, and for the first 6 months, it is placebo-blinded trial, meaning we don’t know if she will get the medication or placebo. The 2nd half of the year, everyone gets the medication. So overall, it’s a good gamble for us. She has such mild problems that likely even if she gets placebo, it won’t be too damaging for her, and then she will for sure get the medication. And there’s a 50% chance she will get the medication the first half of the year. The medication has already been FDA approved for geographic atrophy and has gone through trial for paroxysmal nocturnal hematuria (PNH), so we do have a lot of data that it is safe and feel this is a rather safe gamble. It is our best bet for significant long-term benefit of preventing kidney scarring and preserving her native kidneys.

She is currently the youngest trial participant for C3G. Iowa said their location had the most C3G participants in this world-wide trial. How exciting! How many participants do they have? 7. Suddenly it’s sobering again, how rare this disease is, and let’s face it, each patient is a Guinea pig because so little is known, and so many factors make each patient unique, and only several are on the trial. But wow, seven. From a different perspective, that’s really impressive because our Chicago doctors have so little experience with this condition that Alyssa is the only local patient until I recently heard of another C3G patient at another hospital.

Interestingly, there is another medication iptacopan that is trying to open up a trial for adolescents sometime this year. Iptacopan is an oral medication, so that would be more ideal than injection, but we cannot wait indefinitely for that trial she may not even be eligible for, and possibly risk losing the solid chance we currently have with pegcetacoplan. It’s almost as if we have the illusion of choices. But with rare diseases, beggars can’t be choosers. You can only gamble with what limited options you have.

Is it gambling? Or is everything in God’s hands? If Alyssa gets the medication instead of placebo, does that mean God loves her and answers prayers more for her than for those who got placebo? If she gets placebo or even rejected from the trial, is God still there for her? Does He still have a plan for her? Our faith is on trial too. I am not a believer of the prosperity gospel, for Jesus had loved the poor and broken. My hope and prayer is that through thick and thin, Alyssa would come to know Christ deeply and personally. I hope that she learns how to truly pray. Ok, my prayer is also that she gets on this pegcetacoplan trial and that it helps her with minimal side effects.

Her urine proteins and trace blood in urinalysis are back up. Alyssa is no longer in remission for her C3G condition, and we now are pursuing next steps. We are revisiting the idea of seeing if she is eligible for joining the investigational drug trial for one of the first drugs for her condition. Not a cure, but a possible maintenance medication to hopefully preserve her native kidneys. To clarify, her urine protein levels are trending up, just barely crossing the threshold of what is considered as “remission.”

We will pursue this investigational drug. Currently she needs to maintain medication and be steroid free for 3 months before being eligible for trial. So if all goes well, we may have a chance at starting this by May. Hopefully she will not need to redo her biopsy. Please pray that she can join the trial smoothly, that she does not get assigned the placebo, and that she does well on the medication.

She had COVID. It’s been a great run, nearly 3 years of dodging COVID, but it has finally gotten to her. It’s her first time getting COVID, and COVID can be rough on many organs including kidneys, so pray for her health, that it would have minimal effect in her kidneys. It’s been pretty mild for her, low fever the first day, and then a runny nose and fatigue, but otherwise fine and happy.

Also, pray for wisdom with working with school. She is struggling to keep up with academics with her combination of poor executive skills and many absences. We are now pursuing making a 504 plan, which is a disability’s rights to education plan, especially since she may be racking up a lot more absences if she joins the trial.

Her eyelid thing from New Year’s eve is a sty, per ophthalmologist. And now she has a new one on the other eye upper eyelid.

She is having recurrent GI problems. As with most of her issues, it is currently an unidentified mystery that we have been watching for months. Ulcer? Side effect of MMF? Stress gastritis from being a 12 year old? Please pray for her pain. It was coming in waves several times a day. It seems to be improving after a long, difficult month.

Al’s busy and burnt out from work. The match is coming up, so hopefully that will go smoothly. I am busy and sometimes discouraged, as it feels like I’m treading water to stay afloat. Al recently broke out into an odd case of dermatographia. He’s very itchy and has inflamed welts all over from scratching himself. He probably ate something he’s allergic to and got all itchy and started scratching himself like a dog with fleas. Pray for his quick healing and relief from itching. He’s got some meds for it. 👍 I’ve got some weird hives too.

I forgot to include Al’s KING Hanbok (Korean traditional clothes) pics. My super awesome mom got him this when we went to Korea over the summer.

Merry Christmas and happy new year! 🎄🎁🎈🎊🎆 🎉

We went to Iowa in November with hopes that she could start an experimental medication, one of the first medications that is actually targeted for her C3G condition. From my understanding, it is not a cure, for there is no cure for her condition, but a maintenance medication. Like diabetes or hypertension, where the medications help to manage the conditions but don’t cure it. Anyways, turns out Alyssa is too healthy and therefore does not qualify to join the trial. We were both happy and disappointed. The medication is subcutaneous, injected under the skin, so she would hate it anyways. There may be a later trial for an oral medication, so we hope she may later qualify for that. It’s also scary because the first 6 months the trial is a blinded, placebo trial, meaning you don’t know if you’re getting the medication or not. If you can get past the 6 months then subsequently you automatically get the medication. If you get too sick, of course you will be treated otherwise for your condition. But it’s tough, to stay in that window to endure the trial to get to the medication.

She is weaned off of her steroid! She’s free!!!! Well, free of the worst medication. She is already shedding her “moon face” and weight as her appetite calms down. She is also free from dietary (sodium) restrictions. She has been on the steroid for a year and half now, which is too long. Iowa nephrologist said that she should only be on prednisone for surges of protein in urine. There was a moment where it was discouraging to hear her doc be surprised that Alyssa was on steroid for so long, as it comes with damaging problems like high cholesterol, high blood pressure, low calcium, moon face, weight gain, and more. We are at a loss because there’s so little known about her condition, that we often feel blind as we try to navigate her condition. And that’s even with the medical professionals in the family. She is still taking her other immunosuppressant, MMF, and that’s for life. Hopefully her cholesterol levels will come down quickly too.

She completed her Physical Therapy for hip pain, and it was very helpful. Lots of exercises like bird dogs, dead bug, balancing on one foot while throwing and catching a weighted ball, and more. A few days ago she fractured her foot. She tripped on a rug, in between games of charades. Today she got a boot for her fracture. It should heal in 3 to 4 weeks. “I hate looking injured,” she said. “You ARE injured,” we reply.

Stomach pains come and go, occasionally bad enough for her to miss school. Stomach pains are possibly steroid related. Currently, doc suspects her getting off of steroid will help. She says they’ve improved a lot since stopping steroid.

We’ve been sick a lot. November, she was sick for a week. Then bro was sick for a week. Then I was sick for a week. What extra sucks is that I don’t know for sure that we have the same sickness as her, so we still have to mask through it all at home or stay away from each other. My family is affectionate and likes to be in the same room, so endless masking is tiring. Not gonna lie, I had to hide in my room to get mask breaks. Then in December, bro was sick with influenza A and strep throat for another week, then I was sick, then Alyssa got sick. Her fever went up to 104.6 and we were giving her baths, smoothies, and Tylenol and Advil (ibuprofen) around the clock. Thankfully, her kidney function is good now, so I can give her ibuprofen. If her kidney function worsens, we have to be more careful about ibuprofen, because it is renally excreted. January, now we are finally all better and are now catching up on celebrating Christmas with relatives.

She has… a sty? Or is it an infection since she’s immunosuppressed? She’s doing warm compresses for now and it seems to be improving. She has an appointment with ophthalmologist in February. Appointments are crazy these days. We are appreciating immediate care. And I’ve learned that immediate care is a lot less busy in the morning, so now I know to just rush there instead of joining the 3 hour wait in the afternoons.

She also had a mysterious rash on her upper lip. We suspect it’s an allergy to gogi berry or monk fruit in her drink. The rash vanished a few hours later.

Navigating school documentation has been interesting. She has a lot of absences or excuses from PE due to her medical appointments, blood draws, hip pain, migraines all on top of her regular kid sicknesses. When she gets a virus like the flu and misses 5 days of school, that’s normal for her. The school wanted a doctor’s note when 3 days happen. I love her school staff and strongly want to support them in their need for documentation for their liability. Her PCP was unavailable that day, so I went to immediate care. Immediate care was full and turning patients away. I took her to another immediate care, where there was a 3 hour wait, and there was an unmasked toddler hacking and coughing. That is a nightmare place to sit with an immunosuppressed child, so we left and I called the school to ask if we could be excused from getting a doctor’s note. Thankfully the nurse was very understanding and supportive. And then keeping up with homework. Fun. It’s like, she’s almost normal and seems normal but then misses school and is back and tada, she’s fine and performing on par with her peers. Then she’s not fine with her health and catch-up is hard. I’ve heard immune disease described as an invisible illness, because you seem fine but then bam, things get ugly and people don’t understand why it’s so hard. SO TRUE. In fact, the nephrologist wrote a note for school about her condition and instead of writing immune disorder, he wrote it as “inflammation of kidneys” as the reason for her blood tests. Part of me is so thankful I started this blog as additional proof and as a timeline of tracking her condition and issues, so it’s easier for me to date issues and dig up documentation as they come up.

Junior high is a different beast than elementary school. Kids start wrestling with deeper issues, including mental health and social struggles. For Alyssa, it’s fine because only her elementary school feeds into the junior high, and she gets along swimmingly with others. But for other kids, they really look forward to high school and making different friends. Alyssa is interesting because she already has a more mature life perspective, after seeing some death in the family, grieving her condition, and already been exposed to other kids who are more gender fluid. She once asked me how I would respond to her challenging her gender identity. I asked, “Why? Is this something you’re really thinking?” “No, but I want to know how you would reply.” “Well… more than gender, I would be worried why you are unsatisfied with what God gave you. Race, height, gender, wealth, health, country, and more. There is a lot that we don’t have control over. Some people are so unhappy with what they are that they do everything they can to change it, like plastic surgery, gender surgery, and surgery is dangerous, so that thing must be VERY important to them to take that big risk. I think I would worry more about your attitude towards what you have been dealt in life. I would hope that you learn to be content with what you have, so you don’t go chasing unnecessary surgeries or wallow in misery.” It’s a challenge because of course she hates masking and can’t help but wonder, “Why me?” Then we loosen up on socializing and sanitizing everything, and then inevitably she gets sick, and she is reminded how much it sucks for her to be sick all week and we tighten up again and keep some distance from others. She notices that a LOT of classmates are sick these days. Sucks.

Al got a 3D printer and is having great fun with it. He’s learning a lot with Blender. Al’s next goal is to make a Harry Potter chess set. 😄

It’s a new year, and we look forward to it. Thank you for being our friends (or family, as you have no choice haha) and for loving and sharing in our journey. We hope to see you in person soon!

Alyssa’s proteins suddenly improved again, putting her back in a safe remission zone. 👏👏👏 We hope it stays there.

We visited Iowa again, hoping to start her on a trial medication. Alyssa is doing so well that she is not eligible to start the trial. Should her proteins in her urine rise to a certain level, then she would be eligible. We are also now resuming weaning her off of the steroids.

Her hips still hurt. Cause still unknown. She started physical therapy. Physical therapist says it could be impingement or a muscle imbalance. Funny thing is, her brother also needs to start physical therapy for his heel pain, which started during cross country. His could be Sever’s disease or growing pains as pain is around the growth plate plus muscle imbalance.

Her physical therapist showed me how the kids’ shoes lack some support, so we bought some new shoes and inserts “new balance sport active cushion insoles.” Apparently New Balance has good support, has a wider toe box, and offers Wide options for brother. Hopefully this will help with some pronation for both kids. When she wore new shoes with insoles, she was stunned that she could easily balance on one foot and said, “Ohhhhh, that’s why it’s called New Balance!”

Prayer requests: 1. Please pray for our friend with the same condition, C3G. He just received his 2nd kidney transplant, so pray that the kidney is not rejected, and that it functions well and lasts many years, to liberate him from years of dialysis. Pray for his medical team’s wisdom and guidance, and for his peace of heart and patience with this process. 2. That Alyssa’s proteins will stay low as she weans off of steroid. If not, then wisdom for next step. 3. That physical therapy and new shoes would help both kids. 4. Brother is searching for meaning of life, and he is asking some very deep questions. Pray for his spiritual growth and finding answers.

After the AVN hip pain scare, we decided to preemptively start Alyssa on hyperbaric chamber. Hyperbaric chamber is an oxygen saturated pressurized tent, more commonly known to treat divers with “the bends”. Fortunately, brother’s martial arts instructor got one this past year and is renting out sessions. She will need to do about 80-100 one-hour sessions, thrice a week. Oddly, now her other hip is starting to hurt, so we are following up with that. Her orthopedic surgeon still doesn’t know what it is, as both AVN or impingement are possibilities. We are to follow up again in 2 months.

We considered several options, as her proteins are still creeping up.

• Don’t do anything and see what happens to her urine protein.
• Increase her prednisone to the lowest level that keeps her urine protein low.
• Treat her with the anti-complement drug eculizumab. This would require about a one hour infusion every two weeks for about a year.
• A less standard therapy would be to treat her with the anti-B lymphocyte drug Rituximab. It would be given as 4 weekly infusions over a month. The infusions take several hours.

Then Iowa nephrologist office called and said she may be eligible to the join the C3G trial next year. This trial medication actually addresses C3G complement, which is the source of her problem.

So we are blessed with options. At this point, we choose to continue to wait and watch, and hope to start her on the trial in 2023.

She had gotten sick last month, and was borderline feverish on and off for a couple weeks, with a wet cough. She tested negative for COVID (3 times), strept, flu, and RSV. So it must’ve been some kind of cold. It was tiring for her, and she is glad to be over it. It was a good reminder for her that getting sick sucks, and it’s hard for her body to deal with infections. I also had some hand injury recently, so her little brother stepped up in helping us out at home as we recovered. They just returned to school. She’s very happy. Brother was not so excited, but is warming up to school.

This post is overdue and outdated. I will write another update soon.

We spent a month in South Korea!

The day after we got there, my uncle in Chicago passed away. It was difficult because we could not make it back in time for his services, as everything happened so quickly. There have been multiple times where we could not make it internationally for a funeral, and each time is frustrating. On the other hand, because we stayed in Korea, we were able to meet with many other relatives. We went knowing this could possibly be the last time for my parents, as my parents are not likely to visit Korea again. We went with full knowledge that this was a very, very special trip. Other family went with us, and it was special for Alyssa to have that time to reconnect with her cousins, and discover a new second cousin her age!

We had more doctor visits: a regular physical exam before she starts middle school, and a regular checkup with nephrologist to see if we can continue to smoothly decrease her steroid medication. Her urinalysis protein levels are rising. Nephrologist said to maintain steroids and repeat test in 2 weeks. We repeated 2 weeks later and her protein levels are still trending upwards. Technically her proteins are so low that she’s still considered to be in remission. Her upcoming age-appropriate vaccinations are on hold. Next steps are to be determined.

She also had hip pain and has been limping for a couple weeks, but is now better. She got an X-ray and MRI, and nothing seems to be seriously wrong. Al was worried it could be AVN, avascular necrosis, on the femoral head, which is a serious problem, since she was on high dose steroids. Thankfully, it is not AVN. It might be impingement. We don’t know what it is, but the pain has cleared up.

Alyssa’s urinalysis and blood looks pretty good, and her blood pressure is coming down as she starts to wean off of her steroid. Hooray! That means we can continue to decrease her steroid and follow up again next month.

Thank you God for bringing us here. Each day is a blessing.

Alyssa is in remission!

We went to Iowa in a one day round road trip, for a 3rd opinion. Last year at this time we went for a 2nd opinion in Ohio. The Iowa specialist was extremely knowledgeable and insightful, giving us more wisdom and insight on how to treat Alyssa. Good news is, she did not recommend that $300k/year medication. Instead she assessed that Alyssa is in remission, AND invited Alyssa to join a study, which offers new opportunities. The best opportunity is that when Alyssa turns 13, she qualifies for a new trial drug that addresses her specific issue. There will be more visits to Iowa in the future.

The not so great news is that when we went, she had a peculiar urinalysis, which we repeated back at home, which hopefully is nothing significant. We suspect it might be a minor UTI, but as usual, we need to watch and wait. We’ll follow up with home doctor again in a month.

She is going to discontinue most of her medications, hooray! She will wean off of her high dose steroid, which she had been on for over a year. She will hopefully be completely off of it by fall. With that, she will discontinue her cholesterol medication and antibiotic, and will hopefully get off of her low-salt, low-fat, low-cholesterol diet, low-happiness diet. She does need to stay on one immunosuppressant, her Cellcept (aka MMF) and vitamin/calcium supplements, possibly for life. We’ll just have to watch and wait, as usual.

This does not mean she is cured, for there is no cure for her condition. This is the best outcome we can hope for, to preserve her native kidneys indefinitely. She will continue to be somewhat immunosuppressed, and at risk for relapsing after maybe some kind of infection, and we keep masking. So we continue to seek wisdom as the world rapidly unmasks. But it doesn’t stop us from enjoying travels with measured precautions. We mask and sanitize everywhere and shower right after every outing. Enjoy some more photos of our recent travels.

My friend shared this advice to balance the struggle with anxiety and depression: focus on living in the present. Anxiety is fear of future, depression is like, being down and stuck in the past. I love this advice, and it helps us live with more appreciation day by day. ❤️

Alyssa’s medications have been keeping her illness at bay. Numbers have come down beautifully, such as her protein in urine, which is what I originally celebrated. However, there are other markers for her illness that have hit a wall. One is a test for antibodies, and it is still in her blood, so we are soon facing a tough decision in her treatment. Frankly, our nephrologist doesn’t know what to do, because Alyssa has a rare subtype of C3G. Specifically, she is anti factor H antibody positive, and has nephritic factor. He called the doctor we saw in Cincinnati, and he also was unsure of next steps. We may possibly need to continue her immunosuppression therapy until these antibodies go away, such as 10 years, similar to stuff like MMR vaccine needs to be redone every 10 years because body lost it’s antibodies. We need to wait for her antibodies to go away, to stop her body from dumping proteins to hurt her kidneys.

We are still waiting on a test’s results because of an unpleasant experience. Whenever Alyssa goes in for labs, the techs mess up her order, because some samples need to be sent out to Cincinnati for special tests. Each time they make a different error but this last time they drew like, EIGHT vials of blood. And NONE of them made it to Cincinnati. We had waited so long and it took a while to realize the samples were lost, that the nephrologist said to not bother running a repeat blood draw and just wait for the next routine blood draw, which is very soon. Al reported this to manager of labs, and will call for manager to let them know, “Hey, Alyssa’s coming.” We’ll also be running a test to see how fast she metabolizes her main immunosuppressant, Cellcept. There’s a question to see if she’s metabolizing it fast and may need to go from twice a day dosing to three times a day dosing.

So back to the antibodies. We don’t want to keep her on her high dose steroid, prednisolone, as it has been taking its toll on her. It raises her blood pressure, forcing her on a sucky low sodium diet. It raises her cholesterol, and she is on Crestor (rosuvastatin), which is only reducing her cholesterol a little. It’s also making her hungry, and she’s been putting on weight fast, plus it gives her moonface. We originally thought treatment would be for 6 months, but we are already reaching a year’s marker of when she started last March. So we worry about her development.

Our next option is Soliris (eculizumab), a complement inhibitor. This is a $300,000/year medication that thankfully, insurance should cover it. It’s known to work well the first time, but if discontinued may not work well the subsequent time (not sure if this is true?), which is why we would like to delay this option if possible. So it’s possible once she starts it, she may stay on it for life. It’s a monthly infusion (SUCKS!).

We think it’s time to pursue a 3rd opinion in Iowa, and our appointment is next month. Iowa is known for putting their patients on eculizumab, so we figure they are more experienced with it and may give us more information about it. We hope this is a fruitful trip. After eculizumab, there’s investigational drugs.

No matter what, Alyssa chooses to be happy. It’s beautiful to see. In fact, lately she’s having fun making YouTube videos of her stuffed animals. She wants more subscribers to her channel. 😂

https://youtu.be/k1ZBrQeRW-E