Chris from Massachusetts
When I met my husband Chris 8 years ago, he was 28 years old, and he told me he had a blood clotting condition called Antithrombin 3 deficiency with elevated homocysteine levels and a MTHFR mutation. I didn’t question it at first, but with a clinical background, after a few years, I knew something was off.
Chris had his first DVT blood clot at age 14. By his early 20’s he had a massive stroke that crossed the midline after his care was delayed and the advice for a thrombectomy (a surgical procedure that removes a blood clot, or thrombus, from an artery or vein) was ignored. While waiting for medical attention, he was left in a hallway bed and had multiple drug tests run (during a period of time that spanned over 2 shift changes!) because they wanted to first ensure that he wasn’t ‘drug-seeking’. By the time his third drug test was negative, his clot turned to a bleed and crossed the midline covering 60% of his brain. Around the same time, he had a severed carotid artery with 80% stenosis (stenosis is a narrowing that can lead to restricted blood flow or pressure on surrounding tissues).
As the medical system failed to recognize his symptoms as manifestations of a bigger issue at play, Chris went on to experience even more symptoms: vision issues, multiple DVTs, venous stasis ulcers (open sores that occur due to poor blood circulation in the veins of the legs), and severe anxiety. He was diagnosed with bipolar disorder and had mental health medications shoved at him, even though nothing worked, and the medications magnified things.
I started to dig deeper into Chris’s medical records. He had seen the same provider from birth up to adulthood for primary care. He had been with the same hematologist since he was 14. None of his medical history added up; he only had 3 previous homocysteine levels checked, all of which were in the 300-400’s, and he had been on B12 and folic acid for nearly 20 years at the time- with no reduction in his levels. I spent over a year researching and delving into things...I spoke with specialists and asked why they would tell him a homocysteine level in upper 300’s is acceptable because it was lower than the 400’s that he’d previously had. Dead end after dead end.
Two years ago, I left the clinical world and moved into my dream job at Harvard University working in Molecular and Cellular Biology with the research labs. This provided me additional time and knowledge to dig further. Earlier this year, I became convinced Chris had homocystinuria but couldn’t get any of his medical providers to listen and they just kept saying “he is treated for elevated homocysteine levels, or “homocysteinemia”. Nowhere in his medical records did I see that a genetic test to rule out a CBS-deficiency (classical homocystinuria), was performed, and I also discovered he didn’t actually have a mutation of MTHFR, but rather two copies instead which was not the leading factor in his homocysteine elevation. I couldn’t find that even one amino acid panel had been performed, not one urine amino acid or urine homocysteine level… NOTHING. By this point, Chris had suffered a massive stroke, experienced multiple DVTs, had two retinal intraocular lens surgeries, and webbed lungs, liver, and kidneys. I knew that I couldn’t wait to take further action, and by April 2024 I was prepared to present his hematologist of 22 years with my research and demand answers!
May
Met with pediatric genetics, and they performed a genetic test. She told me not to start him on Betaine, B6 or anything else; that we would wait to see the results.
June
I didn’t listen. My gut told me that Chris couldn’t wait to start these medications. Chris began taking Betaine and B6, continued B12 and Folic Acid, and we added in NAC, and Deplin. We reduced his protein to 60g or less/day and changed all dairy to Almond/Soy or lactose-free products.
July
The genetic test showed that Chris did indeed have CBS deficiency (Classical HCU). I wept. And wept.
July 25
We went to a metabolic specialist in Boston where the diagnosis was confirmed. The specialist said she couldn’t believe I had started him on the necessary medications already and she was impressed. They redrew his labs, and after the longest 24 hours of my life, the results were in! Chris went from an initial homocysteine level of 450.6 down to 38.9 since implementing medications and making dietary modifications on our own. I have NEVER cried so hard in my life. It wasn’t even the validation of being right, but more so the knowing that there was HOPE!
Chris has finally been referred to many new specialists at the new hospital. Here we are, 22 years later. We’ve finally got a diagnosis of classical homocystinuria- and we are feeling hopeful!
We’ve been married for two years now. Chris can play a guitar like no other, writes beautiful letters to me that heal my heart, works heard to learn what he doesn’t know, cleans better than I do, folds laundry and does dishes and cuts grass. He loves to travel, hike, take pictures, go to concerts, and collects vinyl records! And, he cares for my children as if they were his own. My 15-year-old has chronic medical issues, and Chris flushes his PICC line and cares for him as if nothing were wrong with him at all. So, while Chris may have trouble understanding social situations, because the bipolar wasn’t bipolar, but was Autism Spectrum…and his learning disabilities in school weren’t defiance, but an untreated metabolic condition. And while past girlfriends may not have understood him and gave up, I’m so thankful we found each other and I have been able to get us here right now, to a homocysteine of 38.9.. and to be loved endlessly by this man who gets me, and I get him. Well, I’d say it doesn’t get much better than this, other than seeing that homocysteine level drop into normal range, one day soon!
I’ll end by saying that finding HCU Network America was huge for us. After receiving the diagnosis,
Chris wanted to know that there were others out there; a community of support. Through a Google search, I found information about HCU Network America’s Family Conference from back in June. From there, I connected with the Support group on Facebook and soon found the community that we were looking for. I feel it means that he’s not alone...Living your whole life trying to make sense of things, when you finally get a diagnosis, knowing that although you’re rare, having a community that “gets it” changes your whole outlook. When Chris saw that there are people like him out there, it sparked a motivation to share his story and to advocate, so that no one else has to go through what he’s been through.
