One in a Trillion: Alyssa’s medical journey

I have nothing medical to report today.

She had her last day of school… IN PERSON! 😲 School allowed her to come in for the last day, and she was so excited! Super thankful for the school staff and their support. Thankful for her school friends and Girl Scout troop who invite her to outings, even though she’s not a scout this year. Thankful for her one best friend who stayed extra close throughout this year. Thank you to our community and your loving support. Our grieving has passed. We are thankful for our past and our present, and we look to our future with hope.

Alyssa does not waste time feeling sorry for herself. Only when she has to take prednisolone or have another appointment with a blood draw or shot. But she gets over it rather quickly and quickly gets back to enjoying her life.

I’m struggling with anxiety, watching the world unmask and move on at a pace that i am not prepared to accept. I know in my brain that I cannot keep my children in a bubble, but my guardian mother heart is wracked with worry. It isn’t just COVID, it’s also having an immunosuppressed child. Whenever she falls and gets a tiny scrape, it’s starts to infect and spread before our eyes, and we race to disinfect it and apply antiseptic, and sometimes decide to give her an early dose of antibiotic that is usually reserved for weekends. Even beyond her immunosuppression, her condition is sensitive to infections that could start her immune response chain reaction to dump more proteins in her body, and we are back to ground zero to restart her treatments, and I know this is the nature of her condition for the rest of her life. It upsets me, and the world looks like a scary place. I’m also already struggling with feeling burnt out from the emotional/stress load, the incessant medication alarms, cooking for every meal for dietary needs, and other struggles such as Alyssa getting upset when I had to avoid her while I struggled with skin infection and when I got a sore throat. I would mask and sleep and eat in a different room from her, and she got upset when I couldn’t give her hugs day after day, as I frantically disinfected and laundered. So now, catching a cold or getting a scrape is no longer a small deal for our family. And now I get nervous and also wistfully jealous, watching the world unmask and resume normality. But I cannot stay broken, because my mood affects hers, and by golly, I gotta get over this so she doesn’t stress and raise her blood pressure! And for those asking, yes, we do plan on sending her to in-person school next school year.

New routines are new opportunities. Every morning we now wake well before her first 7am dose, and now have morning walks with Charmin, our dog. Charmin is losing weight per vet’s recommendation, hooray!

FYI, bold text is the shortened version for those in a hurry. The rest is written for those who like more details.

She seems to be responding to treatment, so her nephrologist is hopeful. Some labs look better. Her kidney function is worsening, but improvement is usually seen in 3 months. There is more protein spilling into her urine. She also needs to see an ophthalmologist to regularly check her eyes, as C3GN patients are at higher risk for problems such as macular drusen.

Alyssa’s cholesterol is high. This can lead to long term heart and kidney problems. We need to change to a diet of lean proteins, veggies, legumes, and healthy fats. Thank goodness she already likes veggies. Too bad she hates fish. If dietary change alone is insufficient, then she will have to start another medication, a statin, to bring down her cholesterol.

Her salt levels and blood pressure look great! She REALLY doesn’t want to add more medicine or get more blood pressure readings, so she’s very compliant about salt. We also work hard to make the food taste good. She says it hurts when she gets her blood pressure taken, especially when that first pressure is WAY overshot too high and it becomes unnecessarily painful. So we swiftly take her blood pressure manually, knowing not to overshoot too high, and it reduces a lot of pain.

Prednisolone sucks. She asked, “Mom, do any of my meds make me grumpy?” “Yes. Prednisolone.” It raises blood pressure, putting her on a low sodium diet. It raises cholesterol. It makes her moody. Gives acne. Makes her hungry. Weight gain. It tastes SO bitter, that the best way she can take it is to take it in two 10mL oral syringes and swallow quickly with some kind of chaser, like maraschino cherries or cookies to scrub out that bitter taste. I tried some prednisolone to test out taste solutions, and was scowling for 30 min. Nasty stuff.

Our dog has a heart murmur. Charmin, our dog who survived dramatic blood loss from intestinal cancer a few months ago, got an echocardiogram done and has chronic valvular disease. No heart failure now (yay!), no need for meds (yay!), but this is expected to get worse over time (boo…).

Kids have been enjoying watching “The Simpsons.” After we went on the Universal Studios Simpsons ride, Alyssa laughed so much and said, “I think I want to watch this show.” It’s available on Disney+.

Thank you for caring and following up on how Alyssa’s doing.

Adjusting to medications: she’s thankfully handling meds well with minimal side effects. Meds make her head feel “foggy,” so she’s not as clear or as sharp as usual. She also gets hungry every couple hours, and gets a distracted look in her eye as the hunger overtakes her. With the hunger comes her craving for salt, as she is on a low-salt diet. When the hunger hits, she prowls and stares at me until I offer a savory peace offering that satiates her, restoring her pleasant nature for another couple hours. Sometimes a fruit will suffice.

Adjusting to “low-salt”: How much salt? We don’t know, exactly. We are aiming for a target blood pressure range, and if she goes above it, then she needs to start a diuretic (blood pressure medication). Doc said basically avoid eating fast food. Al researched a bit and came up with some numbers so we started reading nutrition facts, and HOLY SALT! This is a HEAVY SALT WORLD! 😮 Thank you Lays and Pringles, for Low salt chips! Hooray for Pirate Booty and it’s cheesy flavor! Hooray for my brother who’s researching how to make a low sodium pizza with fresh mozzarella and fresh tomatoes!

Edit: Now her cholesterol is high, thanks to her corticosteroid. Time to adjust her diet again.

Adjusting to new priorities: She’s noticed that I set alarms throughout the day for her medications, and that I will drop whatever I’m doing and unconditionally head straight for the medications. Even though right now it seems so mild, just a little bit of medicine to swallow here and there throughout the day, she sees me staring intently at her swallowing the medication. And once she swallows, I can relax. And the day resumes as if she was completely healthy. Until the next alarm.

We are focusing on the positive. Honestly, we are blessed in so many ways. Her diagnosis, though potentially serious, still gives her complete bodily function and freedom at this time. We have almost no limitations, and can take off and go do things that she wants to do at this time. So we go. She wanted to go to Orlando. She wanted to go to a beach and go seashell hunting. So we went. And we had an amazing time.

Vacation was awesome! Even with an existential crisis! Our rescheduled cruise was cancelled yet again, so we reworked plans to a week in Orlando, going to Universal and Disney World. Then we did a 2nd week on North Captiva Island to go snorkeling and shelling to her hearts’ content. I don’t know how or why, but somehow Brother brought up the topic of death and asked some questions about whether or not we would cremate him if he died before us. Al briefly paused and answered, “No, we’d bury you.” Then Alyssa noticed how easily bugs died and started to realize her own mortality, and that if she died, she wouldn’t be able to do fun things like go to Disney World, and was fighting back tears. I did not expect to discuss fear of death and mortality and spirituality in Star Wars land, while in line for Smuggler’s Run. As I tried to comfort her, my alarm would ring and she would have to take her next dose of immunosuppression. It was sobering. Yet at the same time, it was a good reminder for my own life lessons as I shared honestly with her. Yes, fear of death and the unknown can be overwhelming, but God is greater than death. Yes, life does seem painfully short, but even for flowers that bloom so briefly, Alyssa is masterful at appreciating and soaking in their beauty in that moment. That is a special gift.

Al lost his GoPro Camera. Al had his camera mounted on a new full-face-snorkel mask, and when he pushed up the mask to talk to Alyssa, a wave crashed over his head and knocked off the mask and camera. Red algae killed the plants in the area, so the sand was loose and it was impossible to see with the turbulent waves. Al looked for it for days.

An answered prayer. 2 days later, Al found his mask and GoPro 1/8 mile away by feel, raising it triumphantly out of the water like King Arthur pulling Excalibur out of the stone (thanks Jacob for that analogy). Earlier that day I prayed that he would find it, not really believing he would. And when he did (in the most random way), I started crying because God showed me through this small miracle that He sees us, that he hears us. And I really struggled with that and with Alyssa’s health.

Below are some pics from our vacation.

We are coming home from our visit to Cincinnati Children’s Hospital for the second opinion. We were told that there are no major changes in how the case would’ve been handled or in management going forward. So we will stick to our current nephrologist and pray for the best, which is remission.

She is starting her medications: immunosuppressant for at least a year, and corticosteroid for a half year, to hopefully get her immune system to chill and “reset” itself, stopping the complement cascade problem(s). She is also taking antibiotics on the weekends to give her some added protection.

The steroid’ll raise her blood pressure, which can strain her kidneys. So we are now monitoring her blood pressure and she is on a low sodium diet. She also needs to take extra Calcium and Vitamin D. Some medications might make her prone to skin cancer, so we need to be diligent with sunscreen. Good thing she likes ice skating!

We do not need to quarantine, THANK GOD! But we do need to avoid sick people. To answer the common question, “How is she doing?” She’s begrudgingly yet obediently taking her medicine, occasionally wondering, “Why me?” Then she runs off to play.

This weekend we go to Cincinnati Children’s Hospital for a 2nd opinion. Honestly we don’t expect any different advice, because there’s not much difference in course of therapy for such a rare condition. We are mostly deciding who we want to do continuity of care with. It’s difficult for our current nephrologist because this is so rare that she’s probably never seen this before. But she’s been working hard for Alyssa, which we are thankful for. We just need to do our due diligence and get that 2nd opinion. We chose Cincinnati because it is world renown in pediatric rare kidney diseases. We also considered Iowa, and that is also still in the back of our minds.

In terms of what to expect, she will be on the immunosuppression therapy at least a year. If this doesn’t work, then it’s a matter of time before her kidneys worsen, and a long journey of medications and low sodium, low potassium, low phosphorous diet, blood pressure meds, complement inhibitors, and possibly experimental medications to postpone end stage renal disease, where she would need dialysis or kidney transplant. And even if she gets a kidney transplant, her immune system may continue to attack the new kidney. And then she may need another transplant. And another. So we hope that this immunosuppression works, and that she will go into remission, ideally for the rest of her life. Some people go into remission, then later get sick, and it reactivates the whole problem all over again and they need to restart immunosuppression.

How are the rest of us doing? Better. We were grieving her diagnosis, but are slowly coming to terms. For Mom, it’s been painful to be so helpless. I found some solace in knowing we have the same blood type, that maybe someday if needed, I can give her a kidney and buy her more dialysis-free years. For Dad, it’s been a spiritual struggle as God calls him to lay it all down before Him and earnestly pray. For Brother, he’s not really understanding, but trying to be supportive.

On the bright side, Alyssa is C3 nephritic factor and factor H antibody positive. Apparently those kids often do better, not sure if it’s because they’re aggressively treated or if it’s a milder phenotype. Either way, we rejoice in these encouragements! Hers was also diagnosed before there was any tubular scarring, so that is another good sign. This is why she feels fine, because there’s no damage to kidneys, and we just happened to catch her odd numbers. So we are thankful and cherish each day.

Alyssa feels fine, but over the years we found some odd labs and are now finding answers. A couple Thursdays ago Alyssa got a kidney biopsy, and was discharged the day after. Biopsy went smoothly and she is recovering well. She’s restricted to low activity for 4 weeks: no running, jumping, or lifting anything heavier than a gallon of milk. She is recovering well and I have to remind her to slow down. Biopsy results are in, and she has c3 glomerulonephritis. She needs to do more tests. Her immune system is dumping proteins that hurt her kidneys. Alyssa’s C3G was caught early, so our nephrologist is hopeful and so are we. She also has a rare blood clotting disorder (slight factor 11 deficiency), where she takes a few seconds longer to stop bleeding, and it may be related to other health issues. Each of these conditions is like 1 in a million, so I joke that she’s one in a trillion. We are doing our due diligence and going to search for a second opinion, looking into places that have experience in cases like Alyssa’s.

We are writing to you because you are our cherished friends and support, but right now I need some time to process. While we appreciate the support, one of the hardest things for me is to retell the whole story and answering questions. We appreciate your prayers. I will send out updates as we are ready to share the information.

In case I haven’t talked to you in the past few months, a lot has happened. Christmas week our dog Q-Tip went into uncontrollable seizures and eventually was euthanized at home. A month later our other dog Charmin collapsed from blood loss from a 5cm tumor in her intestines (rare cancer in dogs), had blood transfusion and surgery, and is now making a miraculous comeback. Brother alone is returning to in person school, due to some speech-therapy related needs. Alyssa is continuing remote school. Our house is having a lot of work done, windows are being replaced, leaking roof the day before biopsy, so now, we are tired.

We cling to God’s grace and His faithfulness. We believe in the power of prayer and appreciate every word you can lift up for Alyssa. For us, it is a bit of a roller coaster. We read about success stories and have hope that Alyssa will join that statistic. But we do not want to rely on statistics but on the Power of God.