Summer Entrepreneurial Experiences

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Last Day on the Job

Friday, August 2, 2013 4:25 pm

Today, August 2, 2013, is my last day with the Massachusetts General Hospital Down Syndrome Program. I could not have asked for a better, more eye-opening, and wonderful summer experience.

I can still remember my phone interview for the internship position. I tend to be a rather nervous small-talker in person, let alone over the phone, so, needless to say I was very nervous for the interview. The day of the interview I was working in the research laboratory that I contribute to at Wake Forest, attempting to keep busy and take my mind off of the interview to come. Eventually, I couldn’t stall any longer and dragged myself to my professor’s office in order to have a private area in which to conduct the interview. I can so vividly remember staring at my phone, waiting for it to ring as I anticipated the awkward conversation that would follow. Have you ever experienced thatout of body feelingwhen you can hear yourself talking and being so amazingly awkward and your brain is just yelling at you to shut up. Well I have experienced that many times and I was prepared for the samefeeling to take place again. Finally, after staring at my phone for about four minutes I made myself check my email to, again, keep myself busy and prevent myself from getting any more worked up than I already was. I was flipping through my emails when my phone suddenly began ringing. And what did I do… panicked and accidently hung up on Dr. Skotko. Perfect! There really is no better way to begin a phone interview than hanging up on your potential employer. I just sat there for about thirty seconds internally yelling at myself and using not so choice words to demonstrate my stupidity. However, I managed to pull myself together, give Dr. Skotko a call back, conduct the interview, and the rest is history.

Through my time here at the Down Syndrome Program I have had three established tasks and one that occurred accidentally. The first task was to shadow in the clinical setting, understand the various roles that each professional fills within the interdisciplinary team, and gain insight into the all-encompassing treatment that we provide for our patients. This was an easy job. Everyone here at the program has been hand selected for various reasons: their dedicated work ethic, their passion for supporting those with Down syndrome, their compassion and respect, and their ability to work as a team to provide the best care possible for our patients.

The second task that I completed was creating documents and locating resources to both streamline and simplify the process of obtaining guardianship for individuals with Down syndrome who would require that support as well as facilitating the process of transitioning for our friends with Down syndrome. Regarding the guardianship project, I worked to create step-by-step checklists for families in order to really spell out how to go about obtaining guardianship. Obtaining guardianship can look like a daunting process, requiring court appearances, witnesses, etc. Butin the end,if guardianship is required in order for the safety and the support of an individual with Down syndrome to be preserved than it is a necessary process. Regarding transitions, I was fortunate enough to be given the opportunity to host a focus group with some of the families of patientsfrom our clinic who are within the age rage where they are beginning to think abouttransitioning from a pediatrician to an adult care provider. This transition can be very challenging since the pediatrician has typically learned with the patient and worked with them as they aged in order to understand the complexity and individual health concerns related to their particular patient history. The idea of transferring that care over to an adult provider who has never met the patient in question and may not be that experienced in treating patients with Down syndrome is a rather distressing thought for most families. However, it is a necessary transition. Today, people with Down syndrome are living longer than ever. This is such wonderful news! Since adults with Down syndrome are living longer lives they are beginning to experience adult-related health conditions. Therefore, transitioning to an adult health care provider who is familiar with these adult onset conditions is absolutely necessary in terms of guaranteeing that our friends with Down syndrome are being provided with the most appropriate care. During the focus group we were able to analyze certain transition assessments that help families begin contemplating and implementing the transition process in order to create an assessment that best caters to the Down syndrome population. Now that these documents have been created, we, at the program, are in the process of posting these documents and resources online at our CARMA website (a database for healthcare providers to educate themselves and their patients) in order to make these resources and handouts readily available for the Down syndrome community.

My third task was to further contemplate what I want to be doing with my life. I came into the program fully commited to the idea that I was going to become a genetic counselor. However, although I had done research previously, shadowing genetic counselors firsthand was very different than I had expected. The genetic component was absolutely there, but the counseling aspect left something lacking for me. I am the type of person who wants to foster relationships with my patients, get to know them and understand what they are dealing with. It took me a while to realize that genetic counseling was not the right match for me, and it took me even longer to find something that I do love. But I have found it; I am going to be a labor and delivery nurse. Thanks to the incredible team here, I was presented with various opportunities to shadow different professionals within the healthcare field during my summer. Upon shadowing the labor and delivery nurses, I knew I had found what I was meant to do. I showed up at seven in the morning on the day of my shadowing, very nervous for what I was about to witness. Honestly, I am a pretty quesy person. Just the thought of someone throwing up makes me start to gag… like I’m gagging right now just typing this. So needless to say, when I showed up on the labor and delivery floor I didn’t know what to expect of myself. Luckily, no one was holding my hand. If the nurses had asked me if I was comfortable, ready, etc. I probably would have said no, but I showed up at seven and I was watching a baby be born by eight. My first encounter with a medical procedure that day was when the midwife broke a patients water in order to induce labor. After seeing all of the “water” pour out of the patient, I knew that it could only go uphill from there. But honestly, I was fine! I had watched a live birth video with my roommate beforehand and that had been a little much; very graphic and didn’t leave much to the imagination (as would be expected). Needless to say we had to pause the video a couple of times in order toregain motivation to continue watching the video. But there is something different about being there in real life. It is amazing. I was holding a patients leg while she pushed, I was cheering her on, monitoring her contractions, and I heard her baby cry for the first time once it was actually born. There is nothing like that sound, when the baby first cries. It is the only time that it is a good sign fora baby to cry, and it is a sound worth celebrating. Honestly, during my time on the labor and delivery floor I just couldn’t stop smiling. It felt right.

However, it has always been important to me that I involve Down syndrome in my eventual career. I do believe that labor and delivery will allow me some exposure to Down syndrome when babies with Down syndrome are born. But I also know that I would love to be involved in the MDSC once I return to Boston after my senior year. Honestly, I am not that concerned about how I am going to fit Down syndrome into my career plans because it is so important to me that I know it is going to work out no matter what, it isn’t an option for Down syndrome to not be a part of my career.

And the fourth task that I completed, accidently, was making invaluable friends with my teammates here at the Down Syndrome Program. I cannot thank my colleagues enough for welcoming me into the team and really making me feel like a valuable part of the program. From day one, everyone has been so supportive and receptive of my ideas. I could not have found my passion for nursing without the encouragement of the wonderful individuals at the program. Thank you all so very much, there is nowhere else that I would have wanted to spend my summer. Best. Summer. Ever.

A Focus Group

Friday, July 12, 2013 1:30 pm

Yesterday, I hosted my first focus group. I had been planning this event for about a month now; emailing families, generating interest, explaining the topic, etc., and finally, the big day had arrived.

I have been working with the concept of transitioning. For our friends with Down syndrome, the transition from a pediatrician to an adult care provider can be a daunting process. For a minute, attempt to consider this process from their perspective: you are born with a cognitivedisability. Each case is independent and unique, requiring a pediatrician to grow and learn with a patient as they age. After working through various challenging situations and concerns, by the time that the patient is 18, the family and patient in question have a very trusting and confident relationship with their pediatrician. It is at this point, that a mainstream patient would switch to an adult care provider. However, for some of our families, that seems like a risky concept. To throw away an18 year relationship in order to work with an unknown adult care provider seems like it would cause more harm than good. So why is this transition necessary?

Luckily, thanks to medical advances, research, and overall general health, and acceptance, people with Down syndrome are living longer than ever. In 1983, the average life expectancy of a person with Down syndrome was 25 years of age. Today, people with Down syndrome live an average of 60 years. This is such wonderful and exciting news! But with this increased age comes the need for an adult primary care doctor. Adult health care providers are specifically trained to assess and treat adult onset conditions; diabetes, heart conditions, and aging in general. The reality of the situation is that although transitioning care from a pediatrician to an adult health care provider can be a foreboding task, it is completely necessary if we are going to ensure that our friends with Down syndrome are receiving all of the medical support that they require as they continue to age and live longer.

During the focus group, families of the program who have children beginning the transition process were asked to participate in a discussion where we analyzed current transition assessments. Although there are transition assessments already available today these assessments have not been altered in order to cater to our program’s specific audience. Therefore, we hoped to gain insight from the families in order to eventually create a document specifically for patients with cognitive disabilities, including Down syndrome.

The focus group commenced with a brief presentation, conducted by myself, introducing the topic of transitions, why it is relevant, and what our goal for the evening would be. I was so nervous! I have presented projects, papers, restults, etc. in my classes at Wake, but I have never presented in a workplace environment. I practiced my presentation in front of my colleagues before clinic on Tuesday, in my room for my roommateabout a million times (I’m sure that she appreciated that),and with Dr. Allie Schwartz yesterday afternoon. But still, I was so nervous! However, if there is anything positive that can be taken from being as nervous as I was it is that those feelings demonstrate how much I care for my colleagues and the people that I worked with during the discussion group last night. I have enjoyed my time here at MGH and have learned so much. Because of this,when I have the opportunity to give back or demonstrate my learning, it is important to me that I do so in a professional and educated manner.

After the presentation, I opened the floor for an informal discussion. The families all had excellent feedback and offered significant contributions in terms of altering the final product to best support our target audience. I am extremely thankful for their time and contribution. Without their efforts, we would still be in the beginning steps of this project, yet today I am able to move forward in terms of editing our documents to include the helpful comments that the families offered.

In the end, it was a very successful and wonderful experience. I enjoy working closely with the families of our program and I can tell that they are all so supportive of their children with Down syndrome. When parents have a child with special needs, they are used to having to fight for everything; education settings, therapies, IEP goals, etc. I hope that they recognize how we, here at the MGH Down Syndrome Program, need them just as much as they need us and we are so thankful to have them as a part of our Down syndrome community.

A special thanks to all of the family participants. We couldn’t have done this without you.

A Different Perspective

Tuesday, July 2, 2013 4:50 pm

Recently, I have been wondering if genetic counseling is the right fit for me. Initially, it was hard for me to even consider this concept. Honestly I have been saying for 10 years that I am going to be a genetic counselor. Yet this summer has marked my first time actually working in the field. I have done my research, but actually experiencing the profession firsthand is different than I had anticipated. Honestly, if I were the person who is called when a new mother has a baby with Down syndrome and I got to explain what Down syndrome is, that would be my ideal job. I remember that after Charlie was born, my Mom shared the story with me titled “Welcome to Holland!” This story explains it all. I wanted to be that person, who sat down next to new parents and explained to them how wonderful Holland can be and how they have a brand new baby who is just as wonderful, if not more wonderful, than the baby that they were initially expecting. But today, that role is often filled by a physician. This physician would then refer the patients to a geneticist. Essentially, my reason for wanting to become a genetic counselor would not be attainable.

Because of this, I have started considering other opportunities in the health care field where I can still achieve my dream of working with people with Down syndrome. This past week I was able to shadow a nurse practitioneron a pediatric med/surg floor. Here at MGH, we have two floors of the hospital that are devoted to pediatric patients. This can be contrasted with Boston Children’s Hospital that is completely devoted to pediatrics with each floor of the hospital serving a different speciality. While shadowing at MGH I was able to do rounds with the doctors. During rounds I met all of the patients on the floor, learned about their health conditions, and spent some time with them. However, this job was challenging on two accounts. The first is that although I was able to spend time with the patients, it was brief. However, I feel that if I were an actual nurse on the floor I would be able to spend time during my 12 hour shift simply talking with patients in order to foster a relationship and make them feel comfortable in their situation. The other challenging aspect of the experience was that pediatric hospital care can be emotionally draining. Many of the patients there were receiving chemo treatment for various cancers. One patient, who loved to play soccer, had to have his leg removed from the pelvis down. Another had CF. Understandably, the nurses who work on these floors are invaluable and are doing a job that is so valiant. Yet personally, I’m not sure if I would be able to remain positive while working with children who are so sick. But this is something that I need to think more about. I have scheduled times to shadow on this floor again in order to gain more insight into the sub-speciality of nursing.

I’m also going to be shadowing in the NICU and labor and delivery. NICU might be a good fit for me because that would allow me exposure to newborn babies with Down syndrome who may be born into the hospital if they are sick at birth. Also, taking care of premature babies and helping them to grow and become stronger now that they have been born is an amazing idea. I am also interested in labor and delivery because rather than treating sick individuals, I would be working with people who are healthy but having a baby. As a nurse in a L&D setting, my job would be to administer an epidural, coach the mother with regards to pushing, etc., and clean the baby/monitor vitals after it is born. I’m going to be shadowing an L&D nurse at some point next week. I’m a little bit nervous, but also very excited.

Overall, it has taken time for me to admit to myself that genetic counseling might not be the perfect fit for me. I am still considering it very highly. However, my goal in the end is to find the job that best allows me to serve those in need and somehow tie my career back to my interest in working with those who have Down syndrome.

A Cause Worth Fighting For

Wednesday, June 26, 2013 1:41 pm

This past Tuesday, the MGH Down Syndrome Program held their first annual retreat. After the program’s one year anniversary, it seemed appropriate that a team retreat be held in order to reflect as a team on the progress of the program. Luckily, since the retreat was held this summer, I was able to attend. Although I had not been able to see the program develop from the beginning, I am thankful that I was able to participate in this team retreat in order to learn more about the development of the program, contribute to the goals for the future, and learn more about the vision that the Down syndrome team has for their program.

The retreat began promptly at 9:00 am. Held on the 38th floor of a Boston skyscraper in the Harvard Club, both the venue and view were incredible. For the first fifteen minutes or so everyone gathered refreshments and mingled. It was so nice to see how genuinely happy everyone was to see each other. Eventually, we all made our way to our seats to formally begin the retreat. Our co-directors, Allie and Brian, greeted us all and informed us of the schedule for the day. We then began with a small icebreaker to get people into the retreat “mood”. Everyone filled out a brief survey with fill-in-the-blanks including”One Halloween I dressed up as a _____.”, “If I could go anywhere on vacation I would go to _____.”, and”The leadership quality that I am most proud of is _____.” It was then my job to play Vanna White and read people’s answers out loud anonymously. People would then guess who they thought it was and I would announce the author. Some of the answers were pretty funny. We had a lot of people who had dressed up as witches for Halloween and even more people who wanted to go to Greece for vacation. We decided that we are going to take a team trip to Greece (just kidding, but I wish!)

After the ice breaker we got down to business. Allie began by presenting a powerpoint about the layout of the clinic. Since everyone at the retreat plays a different individual role in the clinical setting it was important for everyone to understand the different professional perspectives that are presented to a patient during each visit. We then discussed the financials of the program with the aid of a presentation by Brian. It was very interesting to learn more about the “behind the scenes” aspect of the clinic. I know that, although the Down Syndrome Program is a health care facility, it is also a business that is accountable for financial records, profit margins, and deficits. It was actually a very eyeopening discussion; if only the care of the patients was all that had to be considered instead of the money and insurance billing. But of course, without funding, this program wouldn’t be around so this business perspective is completely necessary to discuss and facilitate. We discussed as a team different methods to increase profits, patient numbers, and donations.

After these presentations we then broke into small groups and revised a drafted version of our mission statement and vision. It was decided at the foundation of the program that the mission statement and vision would not be officially drafted until the one year anniversary of the program in order to gain insight into the role and direction that the program had taken. The individual groups edited the statements and then we came back as a large group in order to collaborate and create a final draft. Eventually, we were able to derive a final copy of both statements, finalizing the mission statement and vision of the program. It was quite an experience to be a part of this process. Essentially, I was part of outlining the foundation and the goal of the entire program, an experience that I will never forget.

The last task that we had to complete before the end of the retreat was to brainstorm goals for the program. No idea was too crazy, nothing was ignored. By the end of the brainstorming session we had three pages of ideas for the program. These ideas covered topics ranging from research to clinical changes, funding opportunities to outreach programs, awareness to celebration. Three pages. There is a lot of good that is going to be done by this program.

Overall, this retreat was the best business retreat that I have ever been a part of. Not only did we complete the tasks that we were given, but we managed to both reflect on the success of the clinic as well as set goals for the future of the program. It was amazing to be included in this process. The experience not only increased my knowledge of how to run such a clinic, but also how incredible and valuable this program truly is.

The Best is Yet to Come

Friday, June 14, 2013 2:11 pm

I have wanted to be a genetic counselor since Charlie was born in 2001 when I was nine years old. Being the oldest of my siblings, I suppose that I was at an age where I could understand more of what having Down syndrome meant. When my parents first explained the condition to us they told us that Charlie had special needs and was just going to take longer to do certain things; things like crawling, walking, talking, reading, etc. I can still remember going to school after I learned that Charlie had Down syndrome and looking around at the children in my grade with special needs, wondering where my brother was going to fit in among these children. Would he be bullied? Would he die earlier? Was he going to have friends? Would he know that he had Down syndrome? It was because of my immediate interest and concern with Charlie’s development that I knew I wanted to work in a medical environment someday.

As for when I got the idea in my head that I wanted to become a genetic counselor, that was when I learned about how my parents had been given the diagnosis of Down syndrome. My parents had not known that Charlie was going to have Down syndrome until after he was born, meaning that they found out postnatally. My Mom had been very sick when Charlie was born. She was on bed rest for twenty-three weeks leading up the pregnancy, which was hard on two accounts. One, being required to lay in a bed for months at a time is extremely boring and leaves a person feeling antsy and helpless. The second obstacle was that my Mom had four young children, between the ages of nine and two, who needed to be taken care of and entertained. It was not an easy time for my family. On June 17th, some time before my mother was expected to give birth, she went into labor. One thing led to another and Charlie was eventually born, about two weeks premature. He was immediately rushed to the NICU. The doctor eventually came back and explained to her that it seemed Charlie had Down syndrome and that they would run diagnostic tests to confirm. My Mother was then left to wait for the results of these tests without having ever been able to hold her newborn child. The tests came back positive, meaning that Charlie did have Down syndrome. Since Charlie was still in the NICU and my Mom was too sick from the complications of her pregnancy to be moved, she was unable to see her new baby who was in some other part of the hospital fighting for his life. Eventually, someone xeroxed a copy of the first chapter of a book that explained what Down syndrome was,placed it on my Mom’s bedside table, and left her to educate herself on this condition that her son had inherited. It wasn’t until forty-eight hours later, when my Mom’s health was significantly regressing due to stress and worry, that a nurse demanded that my Mom be able to see her newborn child. Eventually allowances were made to permit my Mom transport to the NICU where she was first able to lay eyes on her son. It was love at first sight.

It is because of the way that my Mom was treated, how she was so disregarded by her health care providers and left in the dark on the situation and diagnosis of her newborn child, that I wanted to become a genetic counselor. I want to be the person who, when a baby is born with Down syndrome, is the one called to sit with the parents and help them to understand what Down syndrome is. I want to be able to explain how wonderful people with Down syndrome truly are, how they don’t have a mean bone in their body, how they see the joy in everything, how they can make you smile even when your crying, and how they thrive so brilliantly just at their own pace. I want to be that person.

Through my time here at the MGH Down Syndrome Program, I have learned so much. I am only halfway through my time here and already I have learned more about my future than I have learned throughout my entire life. At times the learning has been challenging. Like I mentioned earlier, I have wanted to be a genetic counselor for more than ten years; it has always been my goal and always been the light at the end of the tunnel. But through my time shadowing genetic counselors here, I have learned a lot more about the field than I ever could have through the research that I had previously done. As I mentioned in my last blog entry, I cannot be a prenatal counselor. I just know that it is not the right fit for me. I have enjoyed my time in cancer genetic counseling and in the general genetic clinic (which is where I shadowed this week), but for some reason I still feel that something is missing.

I had a conversation with one of my bosses, Dr. Skotko, this week. During that conversation he asked me why I wanted to be a genetic counselor. I explained to him that I wanted to be a genetic counselor because I wanted to take my passion for helping people and my experience with Charlie to support people with health conditions to live their life to the best of their abilities. Dr. Skotko then replied that this is a wonderful cause and can definitely be reached through the career of genetic counselling. But, this goal can also be obtained through other means; becoming a nurse, doctor, surgeon, therapist, etc. And he is right. At the time I could only interpret this news as upsetting; after all, I had spent ten years of my life saying that I was going to be a genetic counselor. And here I was, a year away from graduating, wondering if I was making the right decision. But after taking a step back and really thinking about what Dr. Skotko said, I now realize that he opened many doors for me instead of what I first thought, which was that he had closed the only one that I had ever dared to open.

So now I don’t exactly know what my plan is; will I be a genetic counselor? A nurse? A therapist? And honestly, this whole “not knowing process” is a bit unsettling. But the reality is, I’m thankful that I had this realization, the realization that there are also additional ways for me to obtain my career goals, now rather than later, perhaps even after I was settled into a career as a genetic counselor. I now have a lot to think about in terms of where to go from here, but I know that without this internship, I would still be as close-minded and unaware as before.


Monday, June 10, 2013 2:43 pm

This past Friday marked the end of my third week working with the MGH Down Syndrome Program. Since the primary focus for my summer revolves around my interest in the field of genetic counseling Iwas able to spendmost of this past week shadowing genetic counselors in different settings. Although I have known that I want to be a genetic counselor, really, since my youngest brother was born with Down syndrome, this summer is my first experience into shadowing a genetic counselor firsthand.

Because genetic counselors can work in various settings, I am attempting to see as many of these different work settings as possible before I return to school this fall.This week I observed a prenatal genetic clinic. Serving as perhaps the most common area of genetic counseling, prenatal genetic clinics see expecting mothers who either have a trend of genetic conditions in their family history or are of an increased maternal age (typically if the mother will be older than 35 years of age at the time of delivery). An initial consult would be held to decide if the parents would like genetic testing done on their future child. Regarding genetic testing, there are two types that can be conducted; screening or diagnostic. The screening tests are much less invasive and involve collaboration between the results of a blood sample and an ultrasound. However, something to note about these testsis that since they are not diagnostic in nature they produce a result that states the odds of having a condition. These results indicatewhether the fetus is at increased or decreased risk for potentially having a chromosomal abnormality. The diagnostic tests involve inserting a needle into the amniotic sac in order to remove some of the amniotic fluid to examine the actual karyotype of the fetus. Because of this contact with the uterine environment, these diagnostic tests do have a slight risk of miscarriage. By analyzing these results a karyotype can be produced showing whether a trisomy condition exists, whether there are mutations within the chromosomes themselves, or whether there are other abnormalities that should be further investigated.
When I spent the day with the prenatal genetic counselors, I was able to sit in on the initial consults of patients. These initial meetings consisted of genetic counselors taking a family history of the patients, explaining the way that chromosomal abnormalities can occur, making the patient aware that with increased maternal age the risk of these conditions can be slightly increased, and then making sure that the patient is aware of the different genetic tests that can be conducted in order to provide information about their future baby.
After this day, I learned that I don’t want to be a prenatal genetic counselor. For me, this particular area of work is not right for me on two levels. The first is that I would be too emotionally attached to a case. Although most of the time results come back as being negative for abnormalities, there are the few cases where apositive diagnosis must be given to expectant parents. Personally, I would not be able to sit these parents down, who are simply thrilled about their pregnancy and perhaps feel that everything is progressing appropriately, and inform them that all is not well and there are abnormalities in the genetic test results. Secondly, it is too close to home. My brother Charlie is one of the best parts of my life and I cannot imagine the person I would be without him. I completely understand that this is a valuable job that absolutely should be conducted in order to provide expecting parents with as much information as they want to have, but personally, it is not right for me.

Also this week I was privileged to shadow a genetic counselor working in a cancer clinic. The way that cancer genetic counseling works is much different than I had been expecting. Honestly, I was simply expecting all of the patients to have cancer. That isn’t the case at all. The reason for getting genetic counseling related to cancer is to either be preventative and know your risk of eventually getting cancer, or, if you already have cancer, to be tested in order to provide that information to the family so that they can know their risk. Cancer inheritance occursif a personinherits mutated proto-oncogenesormutated tumor suppressor genes. Proto-oncogenes are genes that, when functioning normally, are necessary for development. However, when two mutations occur (one in each inherited gene) cancerous growth develops. If a person is born with one mutation thenthey already have one strike against them in terms of developing cancerous cell growth. Regarding tumor suppressor genes, there are proteins that work to suppress and prevent the development of cells that are cancerous and have begun to grow without control. Today, we are fortunate enough to have identified certain proteins that, when functioning properly, serve as tumor suppressors. Because of testing capabilities, families that have high instances of certain cancers (breast, ovarian, pancreatic, etc.) can be screened to see if there is a genetic predisposition that members of the family may have inherited. Provided with this information, additional screening, preventative surgeries, etc. can be conducted in order to increase the chances of cancer prevention. It was, interestingly, a very positive atmosphere. I always ask genetic counselors that I shadow if they find what they do to be particularly sad or emotionally draining. I know myself and I know that there are limitations to what I will be able to do with my eventual career based on my emotional disposition and the reality that I will be personally invested in all of my potential patients. But this particular genetic counselor who works within the cancer clinic said that she loved her job and that it wasn’t sad because, rather than what I had expected where a majority of the time you are giving patients a death sentence, in most cases you are providing patients with preventative measure to provide them with a longer life.
I have also had the opportunity of shadowing the MGH Down Syndrome Program’s program coordinator and genetic counselor, Tomi, in her role and would love to someday be involved in the clinical setting of a Down syndrome clinic similar to this. Working with children and adults with Down syndrome to help them make their lives as wonderful as they can be is a role that I can simply see myself loving.

I have appointments in the upcoming weeks to shadow in a general genetic clinic setting and to return to the cancer genetic clinic setting so I am already looking forward to those opportunities. Overall, I have been more than thrilled to be able to truly observe these genetic counseling perspectives and to help myself gain insight into the more specific career path that I hope to follow after I become a genetic counselor.

“Mock my pants, not my sister.”

Friday, May 31, 2013 4:29 pm

After only my second week of working at the MGH Down Syndrome Program, I find myself already learning so much. This week, I was able to spend more time in the clinical setting, meeting a handful of patients and getting to learn about how their lives are going and how they are managing their Down syndrome diagnosis. Sometimes the consults are rather easy; simply checking in on patients who already have their healthcare in order, are highly functional, have parents who have tapped into every available resource, and who are just happy and loving life.Yet we also have consults that can be very challenging;single parents, parents who don’t know what Down syndrome is, non-English speaking families, etc. In these instances it can behard tonot be saddened by the situation;when a mother is wondering if she caused her baby to have Down syndrome by something she did during pregnancy or wondering if her child will be able to walk, eat by itself, or even talk. But I have learned the important thing to remember through all of this is that even if these families come into our clinic feeling uninformed, confused, and alone, they leave feeling completely the opposite; with as many information pamphlets that they can carry, with families of children with Down syndrome that will be reaching out to them in the near future through the Massachusetts Down Syndrome Congress, with early intervention therapy contacts to begin regiments for their newborn, with a follow up appointment scheduled in six months to return to the clinic, with business cards of all of the members of the Down syndrome team (our physician, social worker, psychologist, therapists, research manager, genetic counselor, resource specialist, etc.), and with the knowledge that their primary goal is to simply love their new baby as much as humanly possible.

You may have noticed that my title for this blog entry is a quote, “Mock my pants, not my sister.” and the reason for this is because I want to explain that when I say that I am proud to be a member of the Down syndrome Program’s team, it is not only because I simply enjoy my coworkers and think that they are nice people (which of course is true) but it is also because these individuals have been hand-selected to contribute to this program due to the passion and dedication that they have for individuals with Down syndrome. Dr. Brian Skotko, one of the co-directors of this program has a sister who was born with Down syndrome, which is part of the reason that he has so significantly devoted his life to bettering the lives of those with this particular condition. Over my first two weeks at this program I’ve noticed that Dr.Skotko is very put together in terms of how he dresses; always donning a perfectly pressed button down, a stunning tie, dress pants, and loafers. But every day, Dr.Skotko also wears something bright and flashy. Not thinking much of it, I noted some magnificent fashion choices, but then put it in the back of my mind. It wasn’t until the other day that I learned the reason that Dr.Skotko dresses in such a manner. In an article of GQ magazine published a couple of months ago Boston was highlighted as one of the least fashionable cities in America, explaining that everyone in Boston tries a little to hard to be fashionable and that they end up overdoing it and ruining the entire outfit. Honestly, that’s fine. I have Boston pride and I care about this city a lot, but when it comes down to it, some people in Boston do wear crazy outfits, there is no point in arguing with that. But the real problem arose when the writer of the article, John B. Thompson, chose these words to articulate his point:

“Due to so much local inbreeding, Boston suffers from a kind of Style Down Syndrome, where a little extra ends up ruining everything.”

Honestly? With hundreds of thousands of individuals throughout the world being affected by this genetic condition how could someone write such a demeaning and intolerable thought down on paper to be published for the general public to read? Dr.Skotko submitted a compelling response to this article a segment of which is included below:

“Go ahead, GQ, and mock my blue whale-emblemed Nantucket-red pants. Laugh if you want at the loud argyles that I prefer to wear with my black suit. I don’t even care if you dismiss the sexy pink polka-dotted tie that I like to wear with my blue-checkered shirt in clinic. But, whatever you do, do not mess with my sister.

My sister, Kristin, has Down syndrome, and let me explain what “Style Down Syndrome” really is. “Style Down Syndrome” is smiling when everyone else prefers to frown. It’s spending three summers, in sheer determination, learning to ride a bike because you want the freedom to be like everyone else. It’s singing tunes from Grease at the top of your lungs with your friends. It’s celebrating a third-place victory at a swim meet with as much gusto as the gold medalist.

Style Down Syndrome is strong-willed, persevering, and forgiving-because it has to be.”

Although the GQ article was published months ago, and the magazine has edited the online version of the article to exclude the phrase insulting those with Down syndrome, they have still not extended a public apology for the utter disrespect and hurt that was cast onto those with Down syndrome. Because of this, Dr. Skotko continues to wear his “Boston” style outfits (in the eyes of GQ) until his sister and others with Down syndrome just like her, including my brother,are extended the apology that they so completely deserve.

So yes, I am thankful to be working at the MGH DS Program, and I am excited at the opportunity that I have ahead of me this summer, but even more than that I am so proud to be working alongside people who care so much about our friends with Down Syndrome that they will do whatever it takes to make sure they are seen as the wonderful and extraordinary people that they are.

Genetics: The Ins and Outs of Down Syndrome

Friday, May 24, 2013 3:48 pm

My name is Eleanor Saffian and I am a rising senior. I am pursuing a B.S. in biology and will soon be declaring a chemistry minor as well. My particular interests in biology fall under the topic of genetics, which has led me to strive towards the eventual career of becoming a genetic counselor. I first became interested in genetics when my youngest brother, Charlie, was born with Down Syndrome. Although this served as my personal introduction to the world of genetics, it wasn’t until high school AP biology that I was formally introduced to the educational component of this topic. Luckily, my personal passion for the subject matched that of my educational fascination. Since then, I have always wanted to pursue a career in genetics. I am so thankful to have Charlie in my life and I believe that having him as a brother provides me with a unique perspective and a passion for a career that I can use to support other families who may have a “Charlie” themselves.

This summer I am interning at the Massachusetts General Hospital Down Syndrome Program. As an intern, I have various projects that I will be undertaking this summer. The first, that I have already begun to address, involves simplifying the process of obtaining guardianship for adults diagnosed with a chronic condition, such as Down Syndrome. Essentially, when an individual turns 18 years old they legally become an adult and their own guardian. Therefore, any decisions that they make regarding their finances, medical status, housing, etc. is a legally acknowledged decision. Because of this, individuals who have been diagnosed with a chronic condition often have a guardian appointed at the age of 18 so that they are not solely responsible for particular decisions. Because the best interest of the ward, or incapacitated adult, in question is potentially being stripped of some rights, there is a rather extensive process that must be completed in order to prove that guardianship is necessary. My first task is to create a simplified process, producing a checklist essentially, that will highlight the process that must be completed in order to file for guardianship. Because this is a time sensitive process (needing to be completed by the time the incapacitated adult reaches the age of 18) having a checklist that parents or other potential guardians can use as a reference will be a clear and effective way to manage the necessary process.

I will also be working on a similar project to ease the transition of individuals with Down Syndrome from a pediatrician to an adult practitioner. Oftentimes, when this transition occurs, information regarding the specific care of individual patients is lost, which can potentially cause a setback in the care of an individual with Down Syndrome, or any particular condition for that matter. Currently, there is a validated checklist that has been approved to ease the transition between primary care doctors. My specific job will be to reach out to members of the Down Syndrome Program clinic here between the ages of 12 and 25 in order to set up a focus group of parents and children who are about to begin or have already completed the transition process. At this focus group, I will be able to assess the effectiveness of the current checklist and receive feedback from parents and their children with Down Syndrome. Using the data gathered during this session, I will then be able to revise the checklist to best suit the needs of the programs patients.

Eventually I will be compiling all of the data and resources that I can, regarding the topics of guardianship and transitions pertaining to individuals with Down Syndrome, in order to make these resources readily available to families on the MGH Down Syndrome Program website. I’m very excited that I will personally be able to start these projects and see them through to completion. Knowing that I have personally contributed in easing various processes for the patients and families of the Down Syndrome Program means a lot to me.

Along with these projects, I will be sitting in on clinicals and shadowing the programs genetic counselor. I am looking forward to this aspect of the internship because it will be my first official introduction to what my future would look like as a genetic counselor. Although I have always been interested in the subject and have conducted research on what a genetic counselor’s role typically is, personally observing a genetic counselor and having the opportunity to ask questions about the career will be an invaluable opportunity. Through the combination of these two aspects (the more interactive clinic/shadowing and the more technical projects mentioned above) my experience at the Down Syndrome Program this summer will be very well-rounded and complete. I could not have asked for a better internship that more closely addresses my interest in the subject. I am so excited for the potential that this internship holds. Already, I have completed my first week on the job and I am already looking forward to the next week. I hope that one day I have a career that I am just as excited to do.

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