Explorations Into the Microbiome of Individuals Living with Sickle Cell Disease


We know there are several different gene variants that indicate Sickle Cell Disease, (SCD) which is characterized by the abnormal hemoglobin (the protein of the Red Blood Cell); HbSS, HbSC, HbS beta thalassemia, HbSD, HbSE, HbSO, and of course you have the Sickle Cell Trait (SCT) or HbAS. What we don’t know is; why is there so much variation in the experiences of SCD related symptoms at the individual level of SCD patients? Why are some individuals constantly in pain while others rarely experience it? Why do some people die while others live? Why do we hear so many stories, from people who have SCT, who have experienced symptoms similar to that of a person who lives with SCD?  Especially those horror stories of folks who pass from sudden death related to overexertion. Could these incidents have been prevented? Does everyone with SCT need to be cautious with intense physical activity? What’s the probability that this could occur to them? All questions that I have yet to see a science-based documented answer. I feel like theirs so much unknown about these many different hemoglobin gene variants. These unanswered questions are what has driven me (and I mean that literally) to learn and participate in such initiatives like Precision Medicine, as well as the NEW National Microbiome Initiative (NMI), of which I participated in its announcement on May 13th at The White House.

I was invited alongside my partner Michael Friend as we had been planning to work on a microbiome project utilizing our newly formed sister organizations; the Minority Coalition for Precision Medicine (MCPM) and the Health Ministries Network (HMN), divisions of our marketing company; Future Marketing Group LLC. Prior to this exciting event, my partner and I flew out to Chicago where at the University of Chicago we met up with our colleagues; Martha Carlin, a revolutionary Citizen Scientist and CEO of The BioCollective,  microbial revolutionary scientist and University of Chicago professor Dr. Jack Gilbert, and several other great minds with the intention of putting our brains together to plan the initiation phase of our then Precision Medicine Initiative related project on Post-Traumatic Stress Disorder (PTSD). I personally was really excited about this project and it’s potential to uncover the susceptibility of children living in inner cities to a pre diagnoses of this common mental health disorder. Although this would’ve been such an important fascinating research study to collect data on, I felt compelled to stress how my illness, Sickle Cell Disease (SCD), would be a prime candidate for personalized medicine related study. I even tried to argue how they could use photos of myself to make SCD look “sexy” enough for the White House to even be interested in highlighting such a commitment in a press release. Dr. Gilbert’s heard me ramble of my interest in constructing such a project before, but this time he gave in (caught him on a good day lol). He informed us that he was working on a microbiome project and that we may have an opportunity to form this project under that in a collaborative effort. Martha gave me a look like “wow Shakir you did it!”, I was just SO EXCITED! About a month later our vision became a reality as the White House outlined the scope of our project on pg.18 of their fact sheet during their launch of the National Microbiome Initiative (NMI). In our particular study we will be collecting stool samples from individuals who have sickle cell disease as well as folks who have sickle cell trait. Approximately 500 each. We have an opportunity to collect data, at the microbial level, from the rather underserved sickle cell community throughout the United States. An opportunity to determine how our microbial surroundings are affecting our susceptibility of experiencing sickle cell related symptoms such as; pain, fatigue, ischemic stroke, acute chest syndrome, etc. We can do comparative analysis of the differences in the affects that having a non-diverse gut microbiome has vs having a more diverse gut microbiome and it’s impact on the behavior of the disease. Most importantly, this study will ultimately provide a better understanding of the difference in the genotypes that characterize sickle cell and aid in the development of new treatments, possibly even the development of a less risky cure. As Co-Founder of the Minority Coalition for Precision Medicine (MCPM) I am proud to be launching this project, as one of the catalysts of the White House National Microbiome Initiative, on June 19th in celebration of World Sickle Cell Day! On that day, please visit GoSickle.com to get involved and to be one of these first participants of our microbiome study!

Here The BioCollective’s CEO Martha Carlin speak about the project in a recent interview on a Colorado NPR program called “Colorado Matters”, listen here.


Happy Valentine’s Day

Today is Valentines Day, and most of us think happy thoughts – about love, friendship, and family.

Last year a few days before this very holiday, I was told that my heart had become so tired that it just gave up for a few moments, long enough to render me unconscious in the middle of the street in Manhattan, and then again on a stretcher in the ER of a NY hospital. My heart had stopped beating long enough to place me on the borderline between alive and dead, and my sensations during this period were those of warmth, light, and peace. For some reason my body was not ready to give up, and I woke up again.

There was no good explanation as to why my heart would just stop, and the more experienced docs at the cardiology ICU, sent me home after three days of observation, with the advice of taking it a little easier, drinking more water, and simply not overdoing it.

I spent Vday 2015 at home with my boyfriend, happy to be with him, but more scared than I had ever been during all my years with diabetes, before my kidney and pancreas transplants and during my bouts with serious infections. It was a new fear, one of immediate death without any control or ways to reverse the sequence of events. I felt utterly helpless.

The heart is the muscle that pumps the blood, nutrition and oxygen around our bodies, supplying all organ essentials. However, the heart also represents our soul, our emotions and the very center of our beings. I am a logical medical scientist, so I know we can survive heart attacks, and even heart transplants, but I knew we cannot survive when our hearts simply stop.

These episodes continued for another 3 months, with six additional fainting events, at the most inconvenient occasions, and finally, the docs implanted a detector close to my heart, called a loop recorder, and miraculously, three days later I was yet again on the floor face down, this time in the office ladies room, in a toilet booth, with a growing bump in my forehead. I had experienced another fainting episode, but this time the docs could clearly diagnose the episode as complete heart arrest, and would not let me leave the hospital before a pacemaker was implanted.

One year later, I have a visible device under my skin under my left clavicle, and wires going into my heart that are triggered when my heart beat slows down too much. I have not passed out since the procedure June 17, 2015, and i am getting comfortable with the lump under my skin although i hate what it does to my appearance when I wear a tank top, bathing suit, or evening dress.

This year for V day, I am confident in my heart’s ability to continue beating, even when I am tired or stressed and I am definitely confident in my ability to love and cherish my close ones and be inspired and motivated by everyone in our Lyfebulb Community.

Thanks especially to Jean and Anna for helping me last year, and to Dr Evelyn Horn and Dr Bruce Lerman at NY Hospital, Weill-Cornell.

Happy VDay!

Karin Hehenberger

CEO & Founder of Lyfebulb