One in a Trillion: Alyssa’s medical journey

Ah. I haven’t updated in a year 😏. Medically, there’s not much to update. She has been doing well on the trial medication, pegcetacoplan. She has been blissfully living as a normal child for the past year. ☺️

Not gonna lie, I really enjoyed not updating this blog for a year. No more inquiries about her health. No need to struggle with crippling anxiety and fear of the future. No fear of stressing relatives out about her health. Just waking up each day and being thankful that she has good friends. ❤️

So thank you for your prayers. 🙏 Thank you God for answering these prayers. Our faith has, is, and will be continuously tested. We are thankful for how God has shown us that there is no guarantee of tomorrow, and how we have been able to change our lives accordingly. Previous years, I had been determined to take Alyssa around the world, for fear of her future deteriorating condition and difficulty with traveling. With her excellent health, this summer had been a moving summer with special trips. She went on a Youth Group mission trip to Kentucky and worked HARD. She got to visit Japan, a bucket-list item for her. She went on another missions trip to Mango House, an orphanage in Chiang Mai, Thailand. All have been special trips with deeper meanings for her, opening her eyes to other parts of the world both in wonder and to see needs out there, while making new friends and laughing at funny, charming little kids who like to twerk. 😂

Now onwards to her new school!

Here is the graph of proteins in Alyssa’s urine over time. Her latest results are so low which is WONDERFUL, GOOD NEWS.  🥹

Low is good. This shows that her kidneys are working well with the trial medication pegcetacoplan. ♥️. This was even right after she got Covid! We are so thankful for this trial. Also, her cholesterol is normal! 🎉

Alyssa recently shared that the thought crossed her mind, “I don’t feel sick. What if I’m not really sick?” which is an understandable thought that teens and young adults sometimes have. I reminded her that it’s thanks to medicine that she has more energy than before, and that I am so happy that her pegcetacoplan is working so well that she even forgot a time she was ill. The thought even flew across her mind, “What if people are lying to me about my health? What if my mom is making this stuff up and making me get injections so she can get attention?” This was followed by the thought, “No wait, my mom hates attention.” I’m so glad she was able to share these thoughts with me. We talked about it, we talked about who she thinks she can trust, and what kind of medical care she wants. I reminded her that she has access to her own medical chart online, and reminded her that she is always welcome to be part of our conversations with the healthcare professionals. Then she shrugs and chooses to be lazy and entrust everything to us parents. 😆

“Rejoice in the Lord always. I will say it again: Rejoice! Let your gentleness be evident to all. The Lord is near. Do not be anxious about anything, but in every situation, by prayer and petition, with thanksgiving, present your requests to God. And the peace of God, which transcends all understanding, will guard your hearts and your minds in Christ Jesus.”
‭‭Philippians‬ ‭4‬:‭4‬-‭7‬ ‭NIV‬‬

Thank you, thank you, thank you for your donations! Dr. Nester’s group deeply appreciates the gifts and support. We are truly, deeply grateful.

Alyssa has completed her year long trial and has responded well to the medication! This trial has gone well, and she now advances onto the extended trial, which goes on for at least 2.5 more years.

On this trial, she has been the 2nd best responder to pegcetacoplan and is back in remission. ❤️ That is wonderful. Unfortunately, she also is still leaking a teeny-tiny amount of proteins, we don’t know how long her kidneys will take to heal from the damage her disease has already caused. We do know that it is not yet severe enough to be symptomatic. It’s not like we had or have any other options. Thank goodness for this timely trial.

Alyssa is happily living her early teen life, drama and all. It’s great to see her with energy, as she had previously been constantly tired. She moves well, unlimited. We ask for prayer that the drug will not cause serious adverse reactions or side effects. This is a trial drug. While there is data for its use for other conditions, we still don’t know much about long term effects.

When she was first diagnosed, it was so terrifying and heart-rending. Reflecting on our journey thus far with her medical condition, we have been broken, remolded and restored. We humbly recognize the grace by which we stand and thank God for not forgetting us.

We thank Dr. Nester and her team for intervening and giving Alyssa more health. What a landmark. One year ago we fearfully yet hopefully started Alyssa on the trial, and now we are at the other end extremely grateful for this past year and look forward to the future.

Below are 4 pics where you can see how she physically changed over the years since her diagnosis

We’re back from our trip! Alyssa is now a teenager, and we started off big. Her condition recalibrated us to embrace life now. We pack her life with more adventure than both of our lives combined until now.

Thankfully, the drug trial seems to be helping her. She seems to be more energetic, which is heart-warming. We are deeply grateful. Please donate to support Dr. Nester’s research! It is this research that gives us hope of preserving her native kidneys. Alyssa’s fundraiser ends Jan 31. For each $100, Alyssa will happily bite her dad and send you a video. Al objects, having not agreed to this, but Alyssa is committed. 😂 https://goldrush.uiowa.edu/fundraiser-for-c3g-researchhttps://goldrush.uiowa.edu/fundraiser-for-c3g-research

Alyssa seems to be doing well lately! It is with deep gratitude that we would like to recognize the University of Iowa Hospitals, and their amazing staff: Dr. Nester, Nikki, and their team who have worked tirelessly in their research. So this year for Alyssa’s 13th birthday, Alyssa asks, “Please support me and the research to keep me going.” Below is a link to her fundraiser page. It is tax-deductible.

https://uigoldrush.org/alyssa

Sending you our love. Have a safe, blessed holiday season. ❤️ Gloria in Excelsis Deo! (Glory in the highest to God!)

Alyssa was a panel speaker for this C3G conference in Iowa. She did fine. She got some laughs with her candor and humor. We originally hoped that she encourage others to join the trial. But we just received news that her drug trial closed for new participants the day before the conference. We hope that the trial goes well and the medication would produce good results, making a viable option for patients with C3G.

Alyssa is for sure now infusing the real medication, pegcetacoplan. She has experienced no side effects. 👍 Now we need to watch carefully to see if this is helping her. If it’s not helping, then we must consider other options after the trial is over. If she does respond to the medication, then we likely continue her on the extended trial. The next few months are going to be a roller coaster depending on what we start to see on her follow up tests. We really have no clue how long she needs to be medicated before we see a response. We’ll be plying mind games with ourselves as we try to interpret her results with no real personal experience or data. We’re proud to play a role in pioneering this path for other C3G patients. But it’s a real nail biter. I am so thankful that Al and I can support and guide her care with our education, insight, resources, and support system.

Al’s new job was supposed to start in January. There might be some delay to starting, so he’s looking into medical insurance coverage during the gap time, such as Cobra and something to cover beyond Cobra. We don’t have any urgent concerns, but we also acknowledge that Alyssa’s condition may have an abrupt change at any given time and want to make sure she’s covered. Al is looking forward to a break from work.

Next update will likely be in December.

It’s halftime! Alyssa has reached 6 months into the investigational drug trial. Until now, she has been “blinded” to what she is infusing. “Blinded” means we don’t know if it could’ve been medicine, or it could’ve been placebo (fake). Now she switches over to open-label stage of trial, where she is for sure on the medication pegcetacoplan. 🎉 👏👏👏

Please pray that this next stage goes smoothly and helps her health. Pray that there will be minimal side effects. Most of her symptomatic struggles until now have all been due to the side effects of her medications. Pray that she responds to this drug and goes back to remission.

I previously mentioned another relative getting sick. My relative had a couple procedures done over the summer. There were some problems and had to have a big surgery to remove a tumor. My relative is finally healing well. ❤️ Thank you for your prayers!

I (Alyssa’s mom) finally got to see my endocrinologist after a near 6 month wait after my head MRI showed a mass in my pituitary gland. It is a cyst. Yay, it’s not cancer! I am still getting more hormone tests, and so far nearly everything is coming back normal.

Later this month, we will attend a C3G conference. Alyssa will be a panel speaker to share about her experiences with the pegcetacoplan trial. Apparently, she is currently the youngest trial participant in North America (still yet to be fact-checked for sure). I’m catching wind that there might be a couple younger participants to possibly join soon, on compassionate care, which means they’re sick and need to try something soon. So if they join the trial under compassionate care, there is no placebo time, only the real medication, because it would be cruel to test a placebo on someone very ill. The people designing the trial have to tread carefully, as they do their best on deciding a safe but effective dose for smaller children. Please pray for their wisdom, and pray for these children. Hopefully Alyssa sharing her experience can help answer questions for others, including families such as these.

Al has shifted his work schedule around, and will be able to start taking over some of the drives to Iowa. I am relieved to get a break. ☺️

It’s a long wait until October, which is when she gets the medication for sure. We are halfway through the blinded period. Because she feels icky and tired on an unpredictable schedule, I eagerly let her rest and ditch any extracurriculars. Her fatigue was becoming more regular, where she needed a nap. Now that it’s summer vacation, magically she barely needs naps anymore. 🙄

She experienced vision distortion. For example, when she looked at a door, it looked like it’s shrinking, growing, shrinking, growing. Hooray for Pearle Vision and a quick optometrist appointment! Her eyes look fine, and maybe it’s a migraine aura or something. It got better, so we will wait and observe to see if it happens again. Alyssa’s health is always keeping us on our toes. Throughout the weeks she experienced rounds of dizziness and headaches and need for naps. At another point she got blurry in one eye.

She got to meet another C3G patient! It was nice for her to meet someone around her age with similar struggles. They happened to have appointments next door to each other. We had been dragging our feet about letting her meet other C3G patients, but it’s time to move forward. Alyssa has been invited to be a panel speaker at a C3G conference this fall, to share about her experience with the trial. Surprisingly, she decided she wants to, even though she’s terrified of being put in the spotlight.

I have been taking steps to move out of my anxiety. I’m finally letting the kids unmask in a lot of places. I’m constantly listening to every cough or scratchy voice.

Recently I got a head MRI for some headaches. It turns out that I have a lesion on my pituitary gland. I ran some blood tests to check my hormones, which seem to be normal. Possibly a microadenoma. I’m still unsure of my next steps, as I wait for my appointment with endocrinologist.

The backstory on this is a Roman centurion asked Jesus to heal his servant, “Lord, I am not worthy to have you come under my roof, but only say the word, and my servant shall be healed.” Jesus speaks highly of his faith (despite not being from Israel) and says, “Go, let it be done for you as you have believed.” Servant was healed long-distance. I want the faith that this centurion had. God, please say the word. We pray also for our other family and friends, for their healing.

Iowa doctor visit 4 is done. Nothing eventful, just the usual checkup: we bring 3 urine cups filled with “liquid gold” (gross, haha), blood draw and vitals are collected, doc answers questions, she gets her dose of medication infusion, vitals are collected afterwards, then we exchange old used vials of meds and get all new supplies.

Alyssa is often tired. Doc said that feeling tired is common in C3G patients, though exact mechanism is still a mystery. A lot of her C3G patients need naps. We hope that treatments will eventually help with this feeling. Adolescents are also often tired too, so she gets a double whammy.

I now keep a spreadsheet to track which side arm has been used, so she can alternate arms/veins. Rotating veins gives her veins a chance to heal, to decrease irritation, infection, scarring, and risk of collapsed veins. This is something to consider for her long-term future as she will often get blood draws.

Her school has been so good, so supportive, when I asked for a 504 plan (disability’s rights to education). Alyssa was complicated, but they pulled together a supportive plan. The plan asks for some needed support like if she needs extra time to complete assignments because she accumulates so many absences, or she may need counseling as being “different” while not looking different can affect her mentally/emotionally, or that she needs a specific plan of action for her condition. When Al and I walk out of these school meetings, we get misty-eyed from being so touched at how clearly they care.

When things go well, I sometimes forget her needs and push her to do too much. “Strive for excellence!” I forget she is medically different, and have to recalibrate my expectations. Sometimes she tries to meet these expectations. Sometimes she pushes back. Sometimes she shuts down. Then I see it. She shows so much patience, strength, and resilience through the long road trips, the endless doctor visits, the medications and all their side effects, the blood draws, the urine collections, the cough masks, my anxieties, and more. I realize she is developing excellent character. It’s pretty amazing to get a front row seat to witness this child experience life.

We had a lovely spring break in Florida. We spent most of it in the Keys, where we snorkeled and learned how to pilot boats. Two huge spotted eagle rays swam under Alyssa. We saw key deer who swim, greedy pelicans, lizards bobbing their heads for a date, lots of fish including “needle fish skipping on top of the water like a skipping stone” (Google it for a neat video), tarpons, and sharks. Then our return flight got cancelled so we spent a couple extra days on Miami, where we saw a 6-foot shark near the beach. 😳 Very exciting! It was weird to see people exit the water, and then go back in <10 min later.

Recap: our daughter Alyssa has a rare immune disorder called C3G that deposits proteins that hurt her kidneys, so we are trying to preserve her native kidneys. Other C3G patients have gone through multiple kidney transplants. Alyssa is no longer in remission, and there are limited medication options, being a rare disease. We have now started her on an investigational drug trial, which means she is a human guinea pig to test out a new medication. The medication pegcetacoplan has already been on the market for another condition, so we feel like this is a safe medication to start her on, as well as one of the first medications to actual target the earlier stage of her problem. Like diabetes and hypertension, there is no cure for this condition, so we pursue treatments for best possible outcome. She is on an immunosuppressant (MMF/Cellcept capsules) in addition to the trial medication. We wear cough masks, and I struggle with worry and anxiety about preventing infections that make her C3G more mad, but I also worry about smothering my kids with worry. I put the “mother” in “smother.”

She completed Trial Visit #3. This is the big one, where she starts the medication (or placebo, as it is a blinded trial). We spent the week in Iowa, so she can complete 2 appointments and doses throughout the week. I worried it would be intense in learning how to administer the medication via subcutaneous infusion via pump, but it was rather straightforward. Alyssa saw how small and thin the needles were and she was relieved. In fact, she was more worried about the EKG stickers than the needles, because the sticker adhesives trigger her mild allergy and she gets itchy. 🤭

TLDR (“Too Long, Don’t Read” this if you don’t want details): This next paragraph explains the trial in layman’s terms. The first half of the year is a “closed label” or “blinded trial,” meaning people don’t know if she’s getting the real medicine or the placebo, except for a select few people running the trial. Even the doctor and nurse don’t know. A placebo is a fake drug, to go through the motions of giving someone medicine. For some people, there’s something called the “placebo effect” where they think it’s helping them feel better or worse. Fascinatingly, some people’s body actually respond to placebo effect, like “ohhh my pains are going away” or something as extreme as a false pregnancy. This blinded trial is to test and document results, to prove whether or not the medication actually makes a difference compared to placebo, specifically in C3G patients. If the medication does not prove it actually makes a difference compared to placebo, then why bother selling that medication? Thankfully the USA has organizations such as the FDA (Food and Drug Administration) who set these guidelines so people can’t make false claims and sell junk to desperate sick people. Interestingly, I am not allowed to share any test results with Alyssa, such as to affect her thoughts that she may or may not be getting the medication, because they want to avoid any placebo effect. Personally, I think it’s sucks to do all the infusions for 6 months and it turns out to only be saline (salty water) placebo. But it’s a small price to pay to get the real medication for the 2nd half of the year. The 2nd half of the year is “open-label”, where everyone gets the real medication. Joining this trial is a great opportunity to get the drug for free and (in our case) even be paid to get this medication, plus get regular medical attention and monitoring of her symptoms. Is it scary to make her a trial participant (human Guinea pig)? Of course it can be. So Al and I weigh the risks versus benefits and do the best we can. Having a great medical team also helps. And if Alyssa has any serious concerns along the way, we can withdraw from the trial. Some people are uncomfortable with joining trials, which is understandable too. Knowing that pegcetacoplan has already been tested and proven safe and effective (effective means the medicine actually works better than placebo) on a similar condition helps us know that the odds are in our favor. The nurse tells Alyssa, “You are so brave. You are helping other kids in the future.”

The “subcutaneous infusion” means this. There is a pump that is programmed to slowly push 15 mL liquid (adults get more) into tubes into 2 small needles into her body. Subcutaneous means under skin, so these needles don’t even really go as deep as vaccination shots. Because it’s into the skin, the fluid makes some liquid bump under skin by the time the 30 min infusion is done, and over a few hours that fluid gets absorbed and the bump goes away. So far, she’s handling it well. There is some discomfort at site of injection that goes away a few hours later. She says that “brain freeze” (when your head hurts from too much ice cream) hurts more than the needles. 😂 And she doesn’t react to the adhesive! 👏

Overall it’s going well. She’s a bit scared of giving herself infusions, but she’s MORE scared of ME giving her infusion 😂 So she’ll be doing these infusions on her own under my supervision twice a week at home . We return to Iowa about once a month for checkups, like collecting vitals (Heart rate, blood pressure, temperature), collecting urine, blood tests, as part of the trial process.

We are blessed with a new beginning. We are also celebrating Easter, which is about Jesus and His new life. How appropriate. And so it begins, both a new chance medically and a reminder to also refresh spiritually.