The following blog post was written by Danae’ Austin. I met Danae’ and her brother Garrett in 2011 at the 1st ever HCU Conference that took place in Denver, CO. They are 2 of 8 siblings, and they both were diagnosed with B6 non responsive HCU as children. Since the conference, Danae’ & I have remained in touch as Facebook friends. Danae’ is one of the first adults with HCU I’ve gotten to know. She is very knowledgeable about the disorder & an amazing advocate. She was recently elected to the PKU Organization of Illinois and Allied Disorders. (PKU is another, slightly more common, metabolic disorder) She tells me her state (Illinois) has very strong advocacy for PKU and they let any of the low protein metabolic disorders join their organization. I am honored to be able to dedicate part of my race to this dynamic duo. I will be thinking about you both – Danae’ and Garrett – when I’m running in Boston this spring!
My name is Danae’ Austin. I was diagnosed with Homocystinuria in 1995, at the age of 10. We discovered the diagnoses because my younger brother had bumped his head on a table in school and then complained he could not see. After a week or so, my mom took him into an eye doctor who referred us to the Wheaton Eye Clinic. At the Wheaton Eye Clinic they discovered that his lenses had detached from his retina and popped through his pupil. He then had immediate eye surgery to remove the lenses in both of his eyes. The doctor at the time told us that it could only be one of two conditions that had caused the detachment. Garrett was disqualified from one because he was not old enough, so it left us with only one possibility, Homocystinuria. The eye doctor at the Wheaton Eye Clinic then got in touch with Dr. Paul Wong, and told him of the case. Immediately Garrett was tested and came back positive. The next step, was to have the other six of us kids tested. Out of rest of us, I was the only one who also came back positive for Homocystinuria.
After the diagnoses Dr. Wong took us through a couple of treatments to see which ones we responded too. The first one was just a regiment of B6. From that we discovered that we did not have the kind of Homocystinuria that responds to B6. He then started us on B6, B12, baby aspirin, folic acid, Hominex-2 and a low protein diet. After that we were on track, at least for a bit. I can’t say I was a very sweet child. My brother and I gave my mom a very difficult time. We hated the food, hated our Hominex, and did not really follow the diet like we were supposed to. Our father had died a year prior to our diagnoses, so our mom did not have the time or energy to battle us every step of the way. Eventually I did adhere to taking the Hominex and attempted to follow the diet, I wasn’t the best patient but I did make an attempt.
In 2009, I had a really big fork thrown in my road. As a result of not following the diet as well as I should’ve, I developed a blood clot in my wrist. Dr. Wong advised me to go immediately into the Emergency Room at Rush and he would have someone there to meet me. After a week in the hospital I was released and had a new lease on life. I realized how lucky I was and that if was going to have a healthy, productive, long life, that I was going to have to take my diet seriously. About two weeks after being released from the hospital, I got a letter from the PKU Organization of Illinois inviting me to a low protein cooking class. I had never even heard of the PKU Organization of Illinois, nor did I know there were any other disorders out there that had to follow a low protein diet. I was so excited! After the cooking class, we then went to the Annual meeting where we met Malathy from Taste Connections. From her, we found out about the first national conference for Homocystinuria. We went to that in March 2011. In a course of a couple of years we went from having no community, to a community that was just so helpful and kind.
In July 2011 I had the first of two eye surgeries to replace the lenses in both of my eyes. In July they did the left eye, and then three months later, in October they did the right eye. They both healed wonderfully and now I have 20/20 vision in both eyes. I never knew how clear and wonderful things could look; I feel totally blessed.
For anyone who has HCU, or just got the diagnoses I would give the advice that it isn’t the end of the world, you can still do everything else you did before and you can still aspire to do the same things. The disorder does not change who you are as a person, it just changes the diet you follow. You are, who you are regardless of what food eat. I am glad to talk to anyone about my experience with HCU, or offer advice. I have consistently managed to get my levels in the high teens to low 20’s, but I’ve also when I was non-compliant have seen the other side of the scale with my levels well above 100.
If you’d like to make a donation to NORD’s HCU restricted research fund in honor of Danae’, Garrett, or another HCU Hero, please stop by my fundraising page for the 2014 Boston Marathon:
