How has Albinism affected your daily interactions with others?
As much as I wouldn’t like to admit, albinism does affect my daily interactions with others. However, as I’ve grown older, I’ve learned different ways to cope with the potential difficulties encountered when interacting with others. Since albinism is coupled with a vision impairment, mine being about the average case of being considered legally blind (still have significant vision), it can be difficult to rely on very visual cues like eye contact and facial expression when communicating. Similarly, since people with albinism lack pigment in our eyes, we are sensitive to light, so talking to someone in bright sunlight is very different than talking in a dimly lit, comfortable lighting for us. However, instead of relying on visual cues, I’ve instinctively grown to rely on auditory cues like vocal inflection to tell how a person is feeling and can generally “read” someone by their voice.
Did Albinism have any negative effects on relationships with others, such as your family, friends, and/or partners?
In my own experience, I’ve been fortunate to grow up in a very supporting, loving family who always encouraged me to be myself. Since I’m Puerto Rican, my pale skin contrasts the light caramel-olive of my parents and brother, but my family never made me feel like an outsider because of it (although this is unfortunately not everyone’s experience). Regarding friends, I consider my blindness to be a “jerk filter,” and realize that even if not being able to see perfectly cost me some relationships, they were relationships I wouldn’t have wanted anyway. I do have an active social life, with friends from church, my sorority sisters, and friends from various extracurriculars and advocacy groups. As for partners, I’ve been blessed to have a wonderful boyfriend who embraces all of me and pushes me to be my best self. In sum, I know the people I do have in my life are high quality, and they value me for who I am beyond and within my condition(s).
Do you have any other medical ailments that have stemmed from this condition?
Normally, people with albinism don’t have many related conditions. However, I have a rare form of albinism called Hermansky-Pudlak Syndrome, which includes symptoms of albinism but also several other autoimmune conditions, depending on what subtype one has. All people with HPS have a blood platelet defect, so our platelets lack to proper chemicals to stop bleeding quickly (we have enough platelets, the quality is just bad). Since I have HPS-1, the most common type, I also developed Crohn’s Disease, or inflammation of the intestines, around the age of fifteen. Since my Crohn’s progressed so quickly coupled with my risk of bleeding, I had to have my colon removed at around eighteen after graduating from high school, then removed my rectum six months later and have what’s called a permanent ileostomy. Crohn’s is chronic, so while I don’t have bowel inflammation anymore (since I took out my whole colon), I still get some related issues on my skin. The final part of HPS-1 is developing pulmonary fibrosis, or scarring of the lungs, around age thirty. Since I’m only twenty, my lungs are doing fine and I’m currently being monitored for any signs of fibrosis, but it’s something to keep looking out for since there’s currently no cure for it other than a lung transplant.
Has this condition had any negative effects on your health?
Well, I think it can be assumed that yes, since I have to remove my large intestine. However, all the additional medical complications have not been due to albinism, but to Hermansky-Pudlak Syndrome, a subtype of albinism. I am chronically ill from HPS, but it’s not like every day is bad, especially since I removed the source of a lot of my problems nearly three years ago. It comes and goes, but I refuse to let that limit my life.
Has this condition to negative interactions in public?
Yes, in a sense. Being legally blind is often a strange position to be in, since you can see a little, but not a lot. My first year of college I used a white cane, which got a lot of questions and, sometimes, awkward, unsolicited comments by ignorant strangers assuming I was helpless or incapacitated simply because my eyes don’t work as well, or people getting confused that I wasn’t totally blind. Since I’m independently in college, I pursued the option of getting a guide dog a year and a half ago, so many of my negative interactions are due to people trying to interfere with my dog’s work. Otherwise, there’s a large lack of education on what blind people look like in society, so I hear a lot of, “You’re too young/pretty/fashionable/functional to be blind,” or, “You don’t look/seem blind.” Sometimes in Ubers/Lyfts (since I don’t drive), I even have drivers commenting on my vision, suggesting I get laser eye surgery (will not help me), try a trial drug, wear glasses (I wear contacts), or do anything that would imply me to “cure” my vision, and are offended when I say I would refuse. What most people don’t understand is I was born like this, and since the only thing affecting my eyes is albinism, my vision will not worsen. If I did cure my vision, I feel I would first have sensory overload since I have no idea what it’s like to “see normally,” then would have to nearly re-learn everything I’ve developed coping strategies for all my life. This is part of my identity, and it’s nothing I would ever want to change.
Do your parents know that you were affected before or after you were born?
Since I’m Puerto Rican, the difference in pigment made it obvious. I was diagnosed with albinism at around two days old in the hospital. However, diagnosing HPS is a different story, and I was fortunate to have a very intelligent geneticist who suggested the possibility of me having HPS. Although HPS is rare (1 in every 500,000 to 1,000,000 worldwide), it’s very prevalent in people of Puerto Rican descent (1 in every 1,600). I was diagnosed with HPS at seven months, but that isn’t always the case with HPSers since it can be frequently misdiagnosed, especially in white people where the difference in pigment is not as noticeable.
Do you think the foundations should be better funded?
I personally think the HPS Network should be better funded, because we rely on money for research to find a potential cure for pulmonary fibrosis since it is fatal without lung transplant.
Is there an acceptable amount of research being done for this condition?
Absolutely not, considering the HPS Network has been alive for over 25 years and we still don’t have a cure. Unfortunately, many researchers and institutions are less willing to conduct research on a rare disease over a common one (like cancer), although many common disease treatments have come from looking at rare diseases (I would find a source to back this claim, but from my own personal research I have learned this). Regarding albinism-specific research, I don’t know much since I’m more involved in the HPS community and value that research much more.
Are you a part of any support groups?
I’m part of several support/advovacy groups for different parts of my various conditions. I’ve gone to conferences for the Hermansky-Pudlak Syndrome Network (HPS Netowrk) almost four times; the National Organization of Albinism and Hypopigmentation (NOAH) four times; the American Council of the Blind (ACB) three times; the National Federation of the Blind (NFB) once; and a group for women with Crohn’s and bowel diseases called Girls With Guts (GWG) three times. I also have blog through an organization called Positive Exposure which aims to normalize disability through their PEARLS Project.
Is this preventable or is it a dominant trait?
Albinism is genetic, so it isn’t preventable. It’s also recessive, so both parents have to be carriers for someone to have a chance to be born with albinism. Similarly, HPS is also recessive. Albinism is considered a rare condition, and HPS is a rare disease since it can have life-threatening effects.