I have recently learned about systemic sclerosis and feel like I finally may have found a diagnoses for his unusual and seemingly unrelated major health issues for the last 8 years.
Long story but the brief version. 2011-8 year old son, Stomach virus like illness, progressively worse. Hospital after several days and 3 doctor office visits. More severe GI involvement as well as fever/lymph node enlargement/rash/extreme lethargy and weight loss. White blood cell count @ 40 and no diagnosis. Transported from local emergency room to OHSU children's hospital. Every test and doctor imaginable. 2 week inpatient diagnosed with Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis (HLH). Began treatment with etoposide. Continued testing due to severe inflammation and major gastro involvement.. They said ileus, large pockets of air in intestines, very dilated and put him on complete bowel rest and began total parenteral nutrition (TPN). Very unusual presentation of HLH. Fast forward about 9 months mostly successful but hematology-oncology recommended a course of retuximab infusions. We started noticing increasing fecal incontinence. GI specialists, 2 visits to Cincinnati childrens and diagnosis of, mega colon, intractable colon, idiopathic contstipation, colonic inertia. Lots of names. Manometry testing basically revealed a non functioning colon with no hope of improvement.
Surgery was indicated and in 2014 Subtotal colectomy with ileorectal connection. Was successful but with it's own challenges. Fast forward 2 years, noticing he was slower than peers and seemed to have trouble catching breath but not like asthma more like a really out of shape person. a couple months after he had a spontaneous pneumothorax. Surgery to remove pulmonary blebs and fix air leak including chemical pleurodesis. Slow recovery and way less energy. This last summer unintentional weight loss. He was already underweight (we thought as a result of no colon) 10 lbs! Plus extreme lethargy and a near fainting episode. In October a 2nd pneumothorax. Repeat procedure other lungs. Longer and persistent air leak. 2 chemical pleurodisis plus a really rough wean from pain meds. 3 week in hospital. 3 weeks later yearly follow up with hem/onc. She called for x-ray and CT based on x-ray.Dr. Called pulmonologist for an appt for him. Said lungs looked like they have a chronic condition similar to cystic fibrosis (CF) . 2 lung collapses and a million X-rays and this is the 1st we have heard this. Several week ago we finally got into to pulmonologist for a 1st ever lung function test. I'm still learning what these things mean but FVC? was at 42%. This is apparently very poor. Dr looked back at imaging from his initial illness in 2011/2012 and said lungs had abnormal findings even back then but apparently HLH was on the front burner and the other stuff was not dealt with. Dr.'s do not have a definitive diagnosis but have put in for referral to geneticist. Dr is just calling it restrictive lung disease.
I started researching and fell into a wormhole and discovered that Systemic Sclerosis is a known trigger for HLH. I believe he may have the type without skin involvement and that treatments for HLH staved off syptoms for a bit but now several years later we are seeing more and more. His GI system was so involved as our now his lungs. This may seem like a stretch since it is so rare for a child to have this without skin involvement but as I read through I have never read so much that matched the course of his GI involvement and now his lungs. What are the chances that my child could be so unlucky and have HLH, permanently damaged colon and 2 lung collapses and now restrictive lung disease. I have asked for a referral to the rheumatologist, they are also having us see an immunologist and we are meeting back with surgeon to recall colon surgery and if the she saw anything that would now lead her to think Sclerosis.
What tests should I be asking for and and how can I convince all his many doctors to collaborate and finally get this kid a diagnosis that makes sense. My kiddo has been through more in 8 years than most people in a lifetime. He has probably spent almost a year inpatient over the years and knows way more about anatomy than any 16 year old should. Any advice, thoughts, suggestions, ideas would be wonderful. Surely my kid isn't a one of a kind medical diagnosis.
Thank you all so much!