{"id":20,"date":"2022-04-26T18:03:15","date_gmt":"2022-04-26T22:03:15","guid":{"rendered":"https:\/\/shoeleathermagazine.com\/2022\/?p=20"},"modified":"2024-01-17T18:37:04","modified_gmt":"2024-01-17T23:37:04","slug":"the-voices-of-personalized-medicine","status":"publish","type":"post","link":"https:\/\/shoeleathermagazine.com\/2022\/the-voices-of-personalized-medicine\/","title":{"rendered":"The Voices of Personalized Medicine"},"content":{"rendered":"

Mila Virginia Makovec was born in Boulder, Colorado on November 5th of 2010, a happy, healthy child. She was unusually strong; her dad remembers that, just thirty minutes into life outside the womb, she grasped his finger so tightly he could almost pick her up off the bed.\u00a0<\/span><\/p>\n

For the first three years of her life, Mila jumped from one surface to another, mischievously sliding down the stairs on her butt. In a video shared by her parents, you can see her explorative personality shine as she jumps from a fluffy three-seater couch to a nearby table. She was prone to bursts of singing, \u201cYou are my sunshine, my only sunshine. You make me happy, when skies are gray!\u201d\u00a0\u00a0<\/span><\/p>\n

She was always surrounded by an audience of parents or friends. If you heard hysterical laughter or saw a toddler riding a training wheel free orange Strider, there was a good chance it was Mila.<\/span><\/p>\n

The daughter of two loving parents, Julia Vitarello and Alek Makovec, Mila was also a child of nature. She hiked through national parks at just two years old, undaunted by snowy conditions. So when she turned three, and her feet turned slightly inward and her walk started to change, her parents were concerned. They took Mila to an orthopedist who said it was something she would grow out of.<\/span><\/p>\n

But from then to the age of five, Mila\u2019s symptoms got worse.\u00a0 The strange new way of walking was the first neurological symptom of many that would be dismissed by doctors.\u00a0<\/span><\/p>\n

Even as a preschooler, Mila was a nonstop talker, chattering away with classmates and adults alike. But her long sentences gradually gave way to a stutter that stopped her a few words into a sentence. Unlike the typical speech impairment in which someone struggles to complete words, Mila had a hard time initiating them. She went to a speech therapist, who attributed it to a stutter. But since most kids with a stutter outgrew it, it was assumed Mila would too.\u00a0\u00a0<\/span><\/p>\n

As Mila gradually lost abilities that she had already mastered, her parents searched for answers. They carried a scrap piece of paper titled \u201cNeurological symptoms\u201d to appointments, seeking answers from doctors and therapists. The columns that fell under it evolved. Originally, it only listed walking and stuttering. A new category appeared when Mila\u2019s body developed a third symptom, \u201cvision.\u201d\u00a0<\/span><\/p>\n

An avid reader, Mila had books scattered around her home. Now, she struggled to read anything. Mila would walk over the books she loved to read, leaving the bindings crumbling under her feet. Her vision got worse, but the doctors had no idea what was happening.\u00a0<\/span><\/p>\n

Mila\u2019s situation escalated when she turned five. She fell when she tried to stand. Her fair-skinned body was now covered in bruises. They saw around 100 doctors and some diagnosed her as delayed or autistic. But Mila\u2019s mother wasn\u2019t satisfied with these diagnoses. Her daughter was perfectly capable of walking, speaking, and seeing. Mrs. Vitrallo wanted to figure out why she was going backwards.<\/span><\/p>\n

In November 2016, soon after Mila turned six, her mom brought her to the Denver Children\u2019s ER. The doctor examined Mila\u2019s eyes. She had no response. The family knew she was having vision problems but they thought at most she needed glasses.\u00a0 The doctors made a shocking discovery: she was completely blind.\u00a0<\/span><\/p>\n

They spent a week at the hospital while doctors ran tests trying to find out what was causing the onset of her symptoms. The tests concluded it could be one of two diseases, so they ran a genetic test to determine which one she had. The doctors delivered the diagnosis: it was Batten disease, an incurable illness that combined aspects of <\/span>Dementia,<\/span> Parkinson’s,<\/span> Epilepsy,<\/span> and <\/span>blindness.<\/span> Mrs. Vitrallo was oddly relieved that she finally had an answer.<\/span><\/p>\n

Batten Disease is actually a group of 13 genetic diseases, which have similar symptoms. It is an autosomal recessive disease, meaning that someone has to inherit two defective mutations, one from each parent, in order for symptoms to present. A person with only one defective copy will be a carrier, and not have any symptoms.\u00a0<\/span><\/p>\n

The disease hinders the cell\u2019s ability to get rid of waste. When cells can\u2019t get rid of fats, they build up and interfere with the nervous system. The resulting symptoms include seizures, loss of vision, and physical impairment.\u00a0<\/span><\/p>\n

Batten\u2019s disease can develop at any point in one\u2019s life, and the later in life you develop it, the longer you will live. Some who are diagnosed in adulthood can even have a normal life expectancy. There is no cure, so standard treatment focuses on palliative care, making them more comfortable while they endure the symptoms.\u00a0<\/span><\/p>\n

Mrs. Vitrallo refused to accept the fact that her daughter’s disease was incurable. She began to research the world of rare diseases. Mila, she determined, would fight the zero percent chance of survival rate she had unknowingly been up against her whole life. Reading everything she could about Batten Disease, she would contact all scientists names who came up in association with it.\u00a0<\/span><\/p>\n

Eventually, she met Dr. Steven Gray, a specialist in gene therapy. Gene therapy targets mutated genes in an attempt to alter them and correct the genetic condition that they cause. In order for gene therapy to be successful, you need to know what the mutated genes are in order to know which to target. In Mila\u2019s case, they were able to identify only one of the two genetic mutations. The only way to learn the identity of the second mutation was to sequence Mila\u2019s entire genome. It was a long shot. In 2016, only a few labs were capable of sequencing the genome. And even if it could be done, they may not be able to find the missing mutation.\u00a0\u00a0<\/span><\/p>\n

It wasn\u2019t just a question of Mila\u2019s life. Mrs. Vitrallo had a son, and wanted to know what his life would look like. The siblings of children with Batten Disease have a 25% chance of inheriting it as well. It was likely they shared one of the mutant genes, but did they share both?\u00a0\u00a0<\/span><\/p>\n

Mrs. Vitrallo found a lab at Harvard that could sequence Mila\u2019s genome five months from now. The family couldn\u2019t afford to wait that long. Mila\u2019s symptoms were getting worse and they wanted to know her brother\u2019s fate. Mrs. Vitrallo posted her request to Facebook, and it found its way to Dr. Timothy Yu, a geneticist at Boston Children\u2019s Hospital.<\/span><\/p>\n

Dr. Yu started his research but advised the family to continue their work with Dr. Gray\u2019s gene therapy project. It turned out that Mila\u2019s brother hadn\u2019t inherited either of the mutations. Second, he discovered the identity of the other gene that contributed to Mila\u2019s sickness. Her type of Batten Disease was CLN7. What\u2019s more, he thought, he might be able to create a drug to treat her disease.\u00a0<\/span><\/p>\n

Recently, a new drug had been developed for spinal muscular atrophy. It was an antisense oligonucleotide (ASO) drug.\u00a0 ASO\u2019s were discovered as a tool to restore function to cells. Since the goal was to restore function to Mila\u2019s cells Dr. Yu thought he could use this drug as the foundation on which to create a drug for Mila.\u00a0\u00a0<\/span><\/p>\n

All new drugs undergo a lengthy clinical trial on animals before they are tested on humans. However, Mila\u2019s drug took a different path- she didn\u2019t have the time for a regular clinical trial. The drug, Milasen, named after Mila would undergo what is called an \u201cN-of-1 clinical trial,\u201d meaning that she was the only one it was tested on.\u00a0<\/span><\/p>\n

An \u201cN-of-1 clinical trial\u201d is a single-patient clinical trial designed to observe the effects of a drug in one patient. Approval of these trials depends on the severity of the illness, and the number of people who have it. In Mila\u2019s case, this was her only hope,\u201cThey realized the risk of not treating Mila was very black and white, she was going to lose all her abilities and die,\u201d Mrs. Vitrallo said. The FDA, which is responsible for approving a drug, was extremely cooperative. \u201cThey weren\u2019t a barrier, they were a team member in this,\u201d Mrs. Vitrallo recalled.<\/span><\/p>\n

The drug showed promise. But during the year it took to develop, Mila\u2019s condition quickly deteriorated. She was now blind and fed through a tube. The family feared she would lose her ability to talk. Mrs. Vitrallo recalls when it happened, \u201cI remember her saying \u2018mommy\u2019 in bed one night and thinking oh my gosh, she might never say this again\u2026and she didn’t.\u201d<\/span><\/p>\n

Within a year Milasen was ready. It was the first-ever drug tailored to an individual’s genetics. Mila received her first dose in January of 2018. After a year of fundraising, sharing her story with the media, and documenting Mila\u2019s journey, Mrs. Vitrallo described a new reality that settled in: \u201cMila might actually really have a possibility at living longer.\u201d<\/span><\/p>\n

HISTORY<\/span><\/p>\n

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The concept of personalized medicine has been in practice since long before it had a name. Hippocrates, the \u201cFather of Western Medicine,\u201d described his holistic approach in the <\/span>Corpus Hippocraticum, <\/span><\/i>a collection of <\/span>60 fifth-century Greek medical works<\/span>. <\/span><\/i>Hippocrates argued that the same treatment could cause different reactions in different people. He went so far as to say that even people with the same condition may need different forms of treatment. An English translation of Hippocrates’ belief states, \u201c<\/span>give different ones [therapeutic drinks] to different patients, for the sweet ones do not benefit everyone, nor do the astringent ones, nor are all patients able to drink the same things.\u201d<\/span>\u00a0<\/span><\/p>\n

Hippocrates’ idea<\/span> of personalized medicine included consideration of a person’s age, the time of year, \u201c<\/span>the causes and therapeutic importance of psychological factors, nutrition and lifestyle, independence of mind, body and spirit, and the need for harmony between the individual and the social and natural environment.\u201d<\/span>\u00a0\u00a0<\/span><\/p>\n

Genetics became a factor around the 1950\u2019s, when doctors started to notice a \u201chighly variable drug response.\u201d<\/span> Pharmacogenetics studies the way an individual’s response to a drug differs depending on genetics.\u00a0<\/span><\/p>\n

In 1999, as the human genome was being mapped, the<\/span> term \u201cPersonalized Medicine,\u201d interchangeably used with precision medicine, first appeared in <\/span>a\u00a0 <\/span>Wall Street Journal <\/span><\/i>article by\u00a0 Robert Langreth and Michael Waldholz. The article explained why, \u201cdrug companies hope to create a map of genetic landmarks that will become a potent new tool for uncovering the minute inborn differences that make some individuals particularly susceptible to certain diseases.\u201d Their article gave a name to what Hippocrates described hundreds of years prior.<\/span><\/p>\n

The Human Genome Project (1990-2003).<\/span> mapped all the genes in humans. The human blueprint has been described by Francis Collins, the director of the National Human Genome\u00a0<\/span>Research Institute in 2001, as \u201ca transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease.” Mapping the human genome has enabled medical professionals to discover the genetic causes of many diseases.<\/span><\/p>\n

In the 1980s standard forms of cancer treatment like radiation and chemotherapy were available. However, there was a particularly difficult-to-treat form of breast cancer that was resistant to these treatments. While the mapping of the human genome was not complete, the promise of understanding human genes had in the medical field was being explored. Researchers set out to find out what set this type of breast cancer apart from the rest. They discovered it was a mutated gene, HER2. HER2 produces HER2 proteins, which cause normal cells to have the rapid and unrelenting growth rate of cancer cells. It was discovered that roughly 30% of breast cancer patients involved the HER-2 gene. The biotechnology company Genentech created a treatment, a medicine called Herceptin, with the help of research done by those who discovered the HER2 gene and proteins. Herceptin can be used alone, after chemotherapy treatment, or in conjunction with other drugs. It works by attaching to the HER2 gene and blocking it from producing HER2 proteins. Herceptin was one of the first large scale examples of the effectiveness of personalized medicine.<\/span><\/p>\n

UPCLOSE AND PERSONAL<\/span><\/p>\n

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I first learned about personalized medicine at an NYU Langone Genetic Colloquium. The featured speaker was a woman named Colleen Olson, whose children had a rare disease.\u00a0\u00a0<\/span><\/p>\n

Two of the Olsen children were discovered to have a rare gene that causes a neurodevelopmental disorder (deoxyhypusine synthase, DHPS). Learning about the Olson case, I was welcomed into the world of rare diseases and discovered what modern medicine could do for patients who couldn\u2019t be treated by the \u201cone-size-fits-all\u201d approach.\u00a0\u00a0<\/span><\/p>\n

My interest in medicine peaked in high school. I was in my senior year and my biggest concerns at the time were passing calculus, sending in college applications, and picking out a prom dress. I was lucky to be worrying about these things. As I navigated through the world of derivatives and dress postings on Facebook my anxieties were soon redirected.\u00a0<\/span><\/p>\n

Growing up, my mom always told me \u201cthere\u2019s nothing better to spend your money on than your health.\u201d It was the matriarchal heirloom, my mom had learned it from her mom. She said it so much that I was able to finish her sentence before she could. My step-dad, Joe, became part of my upbringing when I was ten years old. He soon became accustomed to this ritually stated \u201cNeenee-Ism,\u201d something we called the wisdoms my grandma imparted. It was Thanksgiving of 2017 when our family had our annual meal to celebrate. Family members alternated hosting events at their house every holiday, every year. This year my cousins, aunts, uncles, and my grandma all gathered in Miami. Everyone brought something to contribute, even the deviled eggs that my aunt always begged to be forgotten about were part of the hors\u2019 d’oeuvres.\u00a0\u00a0<\/span><\/p>\n

The previous summer, Joe had chest pain and saw a cardiologist.\u00a0 Everything came back normal. We assumed the pain was a fluke, and since the tests said everything was fine, everything had to be fine. In August, he started having a hard time swallowing. My mom was concerned. Stop number two was the gastroenterologist. The doctor said he had gastroesophageal reflux disease (GERD), characterized by acid reflux. They gave him medicine but his symptoms persisted. Every meal was followed by discomfort. The gastroenterologist did an endoscopy and took biopsies. Four days after powering through the Thanksgiving meal, Joe was diagnosed with esophageal cancer.\u00a0\u00a0<\/span><\/p>\n

Oncologists, radiologists, and gastroenterologists worked together to create a treatment plan that met Joe\u2019s individual needs. As we entered the realm of emotional uncertainty the world of medicine became familiar to me. Cancer is a widely studied field with established treatments, the most well known: radiation and chemotherapy. He had the two of them at the same time. I took comfort in the concrete, and for my family that was the treatment plan. His treatment was tailored to his distinct needs: the type of cancer, stage of cancer, location of the cancer, his age, prior medical history and overall health. His journey was able to be individualized with pre-existing modalities. This ultimately saved him. So as I entered the world of personalized medicine that has the potential to treat rare diseases, through individualized therapies I began to learn about what the Olson and Vitrallo-Makovec family went through.\u00a0<\/span><\/p>\n

By its very nature, the world of rare diseases is uncharted territory. However, there is a whole community providing support for it. A lot of the foundations are started by parents of children with rare diseases. They are dedicated towards the specific diseases their child has. This is a distinct component of personalized medicine in relevance to rare disease. Some of these include the DHPS Foundation started by the Olson family, Mila\u2019s Miracle Foundation started by the Vitrallo-Makovec Family, and the Progeria Research Foundation. Each foundation has similar elements. The websites share their story, disease information, and often parent resources that provide families with the tools they need to be an advocate for their child with a rare disease.\u00a0<\/span><\/p>\n

Global Genes and the National Organization for Rare Disorders (NORD), are larger networks within the rare disease community. Instead of just fundraising for a particular disease. Global Genes equips patients and advocates with information, gives them a community, and connects them to medical opportunities. Besides their website, with just a quick Google search you can find their YouTube page. Patient Advocacy Summits and patients’ diagnostic journey\u2019s can be watched on it. NORD shares a similar mission. They improve the lives of families whose children have rare diseases through multiple facets of advocacy.\u00a0<\/span><\/p>\n

As I navigated these websites for my research I felt overwhelmed. I didn\u2019t know whether to click on NORD\u2019s disease database compiled of reports on more than 1,200 diseases first or scroll over to explore one of its many tabs, \u201cfor Patients and Families,\u201d \u201cfor Patient Organization,\u201d \u201cfor Clinicians and Researchers,\u201d \u201cNORD Rare Disease Advocacy,\u201d or \u201cGet Involved.\u201d It seemed that for a parent, family member, or caregiver of a child with a rare disease, they had to learn the known and unknown. But three words on Global Genes homepage illustrated what these individual organizations shared\u00a0<\/span><\/p>\n

\u201cConnect.\u201d\u00a0<\/span><\/p>\n

\u201cEmpower.\u201d\u00a0<\/span><\/p>\n

\u201cInspire.\u201d<\/span><\/p>\n

NORD and Global Genes provide a voice for the rare disease community.\u00a0<\/span><\/p>\n

As personalized medicine dominated my thoughts and conversations it soon took control of my social media algorithms. I knew that these two organizations worked to provide awareness, but I was unsure of how far it reached outside of them. Before I started my research I never came across the world of rare diseases and personalized medicine in my day-to-day life. So when a Tik Tok by the user @haidynshope came up on the \u201cFor You\u201d page I was inspired by the creativity. So while there is a rare disease day once every year on February 28th or the occasional 29th, I was excited that the cause was penetrating such a popular social media platform. The video on my page had a voiceover describing Sanfilippo Syndrome. Her mother\u2019s voice played over my iPhone speaker, \u201cSanfilippo syndrome is a terminal, neurodegenerative, rare disease. It causes children to lose all the skills they\u2019ve gained.\u201d Haidyn wore her blonde hair in a half up half down ponytail. She has big blue eyes and dark brows. She sat in reverse on a pink single-seater couch with a big smile. Her mother\u2019s voice shared that the outcome of children with this rare disease \u201cpass away often before the second decade of life.\u201d\u00a0<\/span><\/p>\n

I admired the awareness this one page brought. I was curious to see if there were similar users out there. I typed \u201crare disease\u201d into the search bar. I came across \u201cRare Disease Tik Tok,\u201d and my screen was full of people who shared their illness and journey through this platform.\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0<\/span><\/p>\n

Personalized medicine can treat the cancer community and pre-existing illnesses. It can range from creating a new treatment or medication altogether, reinventing one that already exists, or using those that already exist in new ways. But it holds extreme promise in the world of rare diseases, where no treatments or cures exist.<\/span><\/p>\n

IMPLICATIONS<\/span><\/p>\n

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As personalized medicine has gained traction in the medical community, politics followed closely behind. In President Obama\u2019s 2015 <\/span>State of the Union address, he announced a\u00a0 $215 million dollar Precision Medicine Initiative that would be part of the 2016 budget. It is described on the initiative\u2019s landing webpage as, \u201cIt\u2019s health care tailored to you.\u201d\u00a0\u00a0<\/span><\/p>\n

The budget was divided between different government sectors (the NIH, FDA, National Cancer Institute and the Office of the National Coordinator for Health Information Technology) with the hope of creating a secure national database that shared health data of a volunteer-based cohort along with identifying genetic factors contributing to cancer to improve treatment effectiveness.\u00a0<\/span><\/p>\n

During the summit, President Obama was joined by three others to discuss the successes and challenges the field faces. They tackled the complex questions about privacy, cost, and what this means to the healthcare system as a whole.\u00a0<\/span><\/p>\n

The manner in which patient data is currently collected keeps it stuck within the individual companies that help hospitals store that data. Obama shared that having databases where medical records are stored together allows for patients to connect with researchers at hospitals or universities that are working on those diseases. Increasing the patient data in a cohort could accelerate cures. While Veteran Affairs (VA) has been gathering genomic data on men and women who have served, allocating money to the NIH to form a volunteer cohort of 1 million people provides a diverse genetic database. Obama explained that associations can be made between rare diseases because of the large sample size.<\/span><\/p>\n

Large databases are promising, but a common concern is patient privacy. Patient data being used against patients themselves is a big fear. Protections include making sure that the data isn\u2019t commercialized or leaked. Large databases evoke the fear that pharmaceutical companies will use the data for pure monetization purposes or that health data could compromise future employment. But one of the initiative\u2019s objectives is to protect privacy and the money received by FDA through this program will ensure protection of public health through privacy experts, medical ethicists and medical product innovators.<\/span><\/p>\n

And then of course there is the concern of cost. Such personally tailored treatments like Milasen, having a heavy price tag. Not everyone will have resources available to cover that. So there comes the fear that personalized medicine will increase the already existing disparities in the healthcare system for minorities. But it actually has potential to correct the gaps in healthcare as, \u201can opportunity to develop agents that are targeted to patient groups that do not respond to medications as intended and for whom the traditional health systems have otherwise failed.\u201d In\u00a0<\/span>the Precision Medicine Initiative panel, Obama explained that by breaking down \u201cstructural or institutional barriers\u201d a lot of money can be saved in the long run if every time a drug is prescribed it actually works. I learned this included correcting the production cycle. Obama explained that pharmaceutical companies currently profit off of drugs that have mediocre effectiveness. This is because if a drug works poorly for one population and great for another, the medication is marketed based on the latter. Obama suggested a way to change this would be for the government to subsidize drugs that are successful for a small group of people.\u00a0\u00a0<\/span><\/p>\n

I spoke with Dr. Tomi Pastinen, director of the Genomic Medicine Center and leader of Genomic Answers for Kids, who is imparting this approach in Kansas City. Genomic Answers for Kids is a research program that sequences children\u2019s genomes to search for genetic and rare diseases. This effort, collecting genetic data to create a repository, will accelerate diagnoses and treatment at no cost. The program is free for patients. Dr. Pastinen explained why this is especially important, \u201ceven with if you have a good insurance coverage, you’re going to pay out of pocket your your your, your premium anyway, so so we do everything for free.\u201d As I learned about what Dr. Pastinen did I got to see the ideas Obama talked about in his panel four years earlier play out.\u00a0<\/span><\/p>\n

Dr. Pastinen addressed that the hospital he works at is a tertiary care institution so inner-city minorities are disproportionately affected by genetic diseases. This is because the minority populations in the area, like African Americans and Latin Xs, may not be provided proper health care or referrals. But his initiative is working to remedy this problem by spreading awareness, \u201cwe’re doing a lot of work this year, to go to the kind of the urban clinics here, primary care clinics that see these families that are disadvantaged, and hopefully, intervene at the first sight of problem.\u201d His community outreach effort which works \u201cto build the critical mass of patients” is multifaceted. They are considering new tactics to spread awareness and increase the patient population like reaching out to faith-based communities and talking to midwives. As new facets emerge Dr. Pastinen currently gives a presentation at urban or rural clinics weekly or monthly gatherings. There he encourages physicians to refer patients to his project who aren\u2019t meeting typical developmental milestones. Like in Mila\u2019s case, delayed or regressing skills can be symptomatic of a rare disease. This project serves to reduce diagnoses from what he states can go from six years to just months, but it can be done in an affordable manner and make drug companies interested in the rare disease community.\u00a0<\/span><\/p>\n

Dr. Pastinen has been fortunate to receive a lot of funding from philanthropy in the Midwest but has had different experiences with the healthcare industry at large. He stated, \u201cthe insurance industry and let’s say the bigger part of healthcare funding doesn’t really see this as a priority for the healthcare system.\u201d While the government has and can continue to make efforts through things like the Precision Medicine Initiative the exuberant cost \u201chundreds of millions of dollars\u201d can\u2019t fall solely on the public. So generating pharmaceutical companies’ interest is essential in the future of creating treatments and potentially cures for genetic disorders. Dr. Pastinen has seen an \u201cemerging number of pharmaceutical, small and medium-sized pharmaceutical companies that are getting interested in rare disease,\u201d since emergency medications are quicker to make since they don\u2019t require the standard testing a blockbuster drug does.\u00a0<\/span><\/p>\n

Drug companies involvement could provide treatment innovations but it contradicts the protection of patient privacy. Patients trust that their genetic data may be shared but isn\u2019t sold. Shared data evokes its own fears in the case of a breach. So with pharmaceutical companies getting involved fears accrue. Patients trust that their data isn\u2019t being sold, which it isn\u2019t. But by prohibiting commercial entities to make a profit out of it stops the only \u201cvessel\u201d of therapy development available.\u00a0\u00a0<\/span><\/p>\n

Until a system where pharmaceutical companies can create treatments and protect patient privacy exists, even a diagnosis without treatment brings relief. This was the case with Mila\u2019s diagnosis. Even though her parents were told there was nothing that could be done for her condition they were happy to know what was causing it. I attributed it to closure, but Dr. Pastinen explained that the relief lies in family planning, \u201cit is the sense of empowerment, and then also the ability to see a little bit in the future. Okay. What sort of things does my child need when he or she becomes school age?\u201d<\/span><\/p>\n

The ethical issues that correspond to the advancement of personalized medicine have answers. But they weren\u2019t as clear to me when I first began my research into the field. My major concern was it increasing the disparities that already exist, so in searching for how it closed the gap I stumbled across a misleading medication, BiDil. After a Zoom interview I had with Brendan Parent, an assistant professor in the division of Medical Ethics at NYU Grossman School of Medicine, I became informed of how BiDil was the first-ever medication advertised to a sole racial group. It was advertised as a heart medication just for African Americans that masqueraded as personalized medicine. This outlined the cautions that need to be taken with personalized medicine and separating it from the incorrect practice of racialized medicine.\u00a0<\/span><\/p>\n

Parent described what happened in the case of BiDil. It was originally developed for the general population to dilate the blood vessels and improve blood flow. But it wasn\u2019t effective. So the founder wanted to find a way to salvage the expensive research that had been done. So after looking back through the data he saw that it might work better for people who self-identify as African American. Parent stated the FDA gave approval because they saw it as, \u201can opportunity for us to look like we are addressing long-standing, you know, socio-economic disparities in health.\u201d\u00a0 As personalized medicine becomes more popular it should not confuse a social construct with the factors of environment, genetics, and lifestyle that need to be evaluated. Parent emphasized the danger of this \u201cstatistical parsing\u201d stating \u201csomething got approved, that was very dangerous. I think, had dangerous implications for conflating science and genetics with race, right. So we can’t use race as a proxy for genetic predisposition. That isn’t to say that there might be some correlations between groups of people who identify with a particular race occur or cultural group, and, you know, genetic predispositions. But it’s not a perfect correlation.\u201d\u00a0<\/span><\/p>\n

LOOKING FORWARD WITH THE HELP OF THE PAST<\/span><\/p>\n

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Batten\u2019s disease treatments had another milestone in 2017 when the FDA approved the drug, <\/span>Brineura. It was different from Milasen in the sense that it was for children with Batten Disease CLN2 instead of Mila\u2019s type CLN7. The drug can either slow or stop the symptoms of the disease before it progresses to a point of no return. As an enzyme replacement therapy, it replaces the enzyme that is mutated in Batten\u2019s CLN2. It wouldn\u2019t work for Mila.<\/span><\/p>\n

Milasen aimed to restore function. But in that year that her drug was being created Mrs.Vitrallo stated, \u201ca lot of dominoes had already fallen for Mila.\u201d She had lost her vision, ability to talk and was given food, water, and medicine through a tube that spanned from her abdomen wall into her stomach. After receiving the drug, seizures that numbered up to 30 a day dropped to a handful. There were even a few days with none. She stopped slumping and could sit up all by herself. The drug had worked but because of how advanced her disease was it\u2019s effectiveness declined.\u00a0<\/span><\/p>\n

Mila died in February of 2021. She would be 11 years old today, but parted giving the world of rare disease hope. Her story shows that personalized medicine is a field worthy of increased attention. Even though the treatment didn\u2019t give her \u201cforever\u201d in terms of a normal life span, it gave her a longer life with more functionality. Her mom stands by this, \u201cthis is still a valid pathway even though it may not have been in time for Mila.\u201d She continued, \u201cbeing the first isn’t about being a success story,\u201d rather to her it shows, \u201chow important it is to be the first to break the ice.\u201d\u00a0<\/span><\/p>\n

Personalized medicine provides a new treatment pathway that for those with rare diseases was previously non-existent. It also provides the chance for higher efficacy treatments in cancer patients and people who have common diseases but the treatment doesn\u2019t work for them. Its advancement could allow for those affected to have access to medicine before their illness reaches advanced stages. As Obama stated in his panel, \u201cprecision medicine isn\u2019t a replacement for basic healthcare.\u201d Rather, it is a reform. Dr. Pastinen spoke to this future, \u201cWe’re currently doing newborn screening for about 60 human diseases. We could do that for 4000.\u201d He sees a future where newborn screening can be done by DNA sequencing. Dr. Pastinen stated, \u201cthen all of us will have our DNA sequencing medical record for our life.\u201d<\/span><\/p>\n

 <\/p>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

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