HCU Heroes - Jason's Story

The following blog post was written by the Fasano family about their son, Jason, who was diagnosed with Homocystinuria this past year at the age of 17.  It continues to amaze me how often HCU goes undiagnosed!  The Fasano family live in Massachusetts - not far from the start of the Boston Marathon.  I'm thrilled to be able to dedicate one of my Boston Marathon miles to their son Jason!

Here is our story of how our son Jason was diagnosed in early 2013 with HCU at the age of 17. His only major issue had been his rapidly deteriorating eyesight (always attributed to growth spurts). He has a lanky build with long limbs and has had a protruding chest wall (pectus caranitum) since a very young age. His older brother has a sunken chest wall (pectus excavatum) but doesn’t have HCU or any other health issues.

After detecting a heart murmur at a yearly physical around age 15, Jason’s doctor suggested getting a cardiac workup to rule out any heart issues. The results revealed an “innocent” murmur, attributed at least partially to the shape of the chest wall. While the murmur itself was of no major concern, the cardiologist did find it odd that both of our children had chest wall deformities and suggested that we might want to follow up with a geneticist about connective tissue disorders at some point in the future.

Not thinking there was any great urgency, we waited but eventually saw another cardiologist that specialized in genetics. While not able to provide a specific diagnosis he was able to rule out Marfan syndrome which was previously discussed as a potential issue. He suggested that Jason’s degenerating eyesight, lanky build, chest wall deformity, and apparent facial growth pattern did all warrant further investigation.

As a preteen, Jason had braces for several years but very late in the game the orthodontist had to stop treatment because he couldn’t keep up with the rapidly changing growth pattern of Jason’s jaw. Once he stopped growing, the orthodontist referred us to a maxillofacial surgeon to discuss jaw surgery to correct the very significant under-bite that had developed. Concerned about the connective tissue disorder, the surgeon requested we get a full genetic workup before discussing surgery and referred us to the Genetics Department at Mass General Hospital. After a few tests, Jason was diagnosed with HCU. His homocysteine level was 237 (wayover the normal range). They also discovered he had osteoporosis and slight scoliosis. Luckily he is B6 responsive and has been controlling his HCU and osteoporosis with a regimen of vitamins, albeit abnormally high dosages.  

After further discussion the genetics department and the maxillofacial surgeon determined that neither the HCU nor the osteoporosis would prevent him from having the surgery. His jaw surgery is scheduled for about a year from now (he just had braces put on again) when his teeth are properly aligned.

An exam at Mass Eye & Ear Infirmary confirmed that Jason’s extreme myopia is a result of the HCU but that as long as his eyesight can be corrected with glasses, surgical intervention is not worth the potential risk at this time.

This all transpired as he was preparing to leave home for his freshman year of college in Virginia. He’s now in his 2^nd semester and doing very well in school. The entire experience has been very difficult on us as parents but our son is just amazing, as he just seems to roll with the punches and takes on each new health challenge with an incredibly positive attitude. We’re very proud of him.

If you'd like to make a donation to NORD's HCU restricted research fund in honor of Jason, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon:

http://www.firstgiving.com/fundraiser/kristinrapp/bostonmarathon2014