Before anything else: I know plenty of people are carrying heavier things than I am, and I hope they find treatment and answers too. This page isn't a plea for sympathy. The last thing I want is for anyone to feel sorry for me. I believe I was dealt these cards because I'm strong enough to carry them, and because I have a reason to tell the story. What follows is the road I've traveled so far.
My name is Sam. I've been a patient since I was a kid, so I decided to look at my own records and start asking my own questions, to challenge the idea that the answers were someone else's to find. For years my results came back a little off. Low platelets, low white cells, splenomegaly, and eventually a liver that wouldn't settle down. Doctors could see it, but nobody could tell me why.
Before the NIH, I was a patient at Nationwide Children's Hospital in Columbus, Ohio. My doctor there truly cared, and is the only reason I ever got the chance to be seen at the NIH. In 2015, genetic testing at the NIH finally gave it a name. I have a mutation in a gene called FAS, which causes a rare condition known as ALPS. In 2024, testing confirmed a second mutation, in a gene called ABCB4, which my doctors now see as the cause of my liver disease. Two genes, one from each parent, and a body that has never quite followed the rules.
I called this project Hopefully because it's a word that's been on repeat in my head for years. Hopefully the next results are better. Hopefully someone figures it out. Here are fourteen years of my own lab results, from five hospitals, pulled together and charted so anyone can follow them. Alongside the numbers is the part that doesn't show up in a chart: what it has actually been like to live inside these results. I'm sharing all of it in the hope that someday it helps someone else.
If you found this page because something in it sounds familiar, I want you to know you're not alone in living with questions that don't have full answers yet. Keep asking questions. Ask for your records; they're yours, and they tell a story. And don't let an uncertain future stop you from building a life right now. I'm still building mine.
When the body fights an infection, the immune system makes far more white blood cells than it needs. Once the fight is over, the extras get a signal to self-destruct. The FAS gene builds the switch that sends that signal. In autoimmune lymphoproliferative syndrome (ALPS), the switch doesn't work properly. Immune cells pile up in the spleen and lymph nodes, and the immune system can start attacking the body's own blood cells.
In my bloodwork that shows up as counts that sit low, year after year.
Cells that help blood clot. Low counts mean easy bruising and bleeding.
The body's overall infection-fighting cells.
The first responders to bacterial infection. Before 2018, Nationwide Children's reported only a percentage, so those counts are calculated as white count × neutrophil % and drawn as hollow diamonds. Nationwide Children's printed no normal range for this test. The dashed line marks 1.5, a commonly used cutoff for low neutrophils; it is a general reference, not a lab range.
Carries oxygen in red blood cells. Low hemoglobin means anemia, which brings fatigue.
I don't get many infections, but I'm tired a lot. Whether I'm more tired than the average person, I honestly can't say, because I've never been the average person. I don't have anything to compare it to. Most days I push through. Some days that's harder than others.
I used to ride dirt bikes and skateboard, and I was in love with racing. When we found out my spleen was enlarged, all of that had to stop. One bad crash could have ruptured it. I had to sell my bikes. I had to give up my passion.
Bile is harsh stuff. It's made of salts that work like detergent. The ABCB4 gene builds a pump in liver cells that adds a protective fat to bile so it doesn't eat away at the bile ducts. When that pump is weak, bile injures the ducts and the liver around them.
I have a confirmed pathogenic ABCB4 mutation (p.Arg1046Ter). My liver problems were once assumed to be autoimmune hepatitis from ALPS, but since the genetic results my doctors at the NIH attribute my liver disease to this mutation. Their liver specialists have also noted that high pressure in the vein that feeds the liver (portal hypertension) without cirrhosis, which has been seen with immune disorders, may be part of what's going on.
An enzyme that leaks from liver cells when they're injured.
Another enzyme released by injured liver cells.
A yellow waste product the liver clears into bile. High levels can cause jaundice.
Rises when bile flow is blocked or the bile ducts are irritated. Children's ranges run higher because bones are growing.
A sensitive sign of bile-duct stress, and the classic marker of ABCB4 liver disease. The chart shows Nationwide Children's tests from 2018 to 2020; two 2018 results had no unit recorded and are shown as U/L. The NIH also measured it in 2015 (normal) and in 2024 and 2026 (both high); Duke's records here have no GGT.
When something flares up, it's usually my liver. My levels climb, and I get jaundiced, itchy and even more tired than usual.
I was 15 when doctors first told me how uncertain my future was. That's a lot for a 15-year-old to take in, and I didn't know how to process it. So I didn't, really. I accepted it and stopped questioning it.
Over the years, and especially recently, I've come to see it differently. My conditions are rare enough that not much information or data is being collected about them. If I want answers, for me or for anyone else who has these conditions, I can't just wait for them. I have to advocate for them myself, and that takes real effort.
Some days the uncertainty makes it hard to stay motivated. It can feel like I'm working toward something I may never reach. But then I remember that working toward it is still better than sitting still and reaching nothing.
What keeps me going is how I see myself: as a soldier who fights a battle every day. I won't accept defeat, even when the enemy is my own body fighting itself.
I still say the word every day. Hopefully the next results are better. Hopefully someone figures it out. But I've stopped just waiting on that second one. This page is me figuring out what I can, with what I have. If it helps even one person feel less alone with their own numbers, it was worth putting online.
It isn't finished, because my story isn't. New results will keep coming, and I'll keep adding them. For now, this is where things stand: two genes, fourteen years of numbers, and a lot of fight left in me.
Results come from my own records at Nationwide Children's Hospital (2012–2020), the NIH Clinical Center (2015–2026), Duke Health (2021–2026, plus one HbA1c from 2019), Atrium Health (2022–2025) and Novant Health (2022–2025). They came from FHIR and C-CDA exports, a scanned PDF and patient-portal pages, then cleaned and merged with my own open-source pipeline. Results that appeared in more than one export were counted once. Charts show one result per test per day.
Genetic details: FAS c.332A>G (p.His111Arg), confirmed by the NIH in June 2015. ABCB4 c.3136C>T (p.Arg1046Ter), a confirmed pathogenic mutation, plus a second variant of uncertain significance, c.1769G>A (p.Arg590Gln); results disclosed in July 2024. My lowest hemoglobin, 6.6 g/dL on 28 April 2025, shows as 7.0 on the chart because the charts show one result per day.
"Normal range" means the range printed by the lab that ran each test. My childhood results used pediatric ranges, so the shaded band shifts over time. The shaded band shows the typical range at the time; each dot is colored by the range printed with that result, and hovering a dot shows it. A handful of older results with no recorded unit are left out.
This is one person's story and data. It isn't medical advice, and lab patterns alone can't diagnose anyone.
Background on ABCB4: Sticova E, Jirsa M. "ABCB4 disease: Many faces of one gene deficiency." Annals of Hepatology 19(2), 2020. doi.org/10.1016/j.aohep.2019.09.010