The Best American Science and Nature Writing (2015)]
Seth Mnookin describes the story of Christina and Matt Might as they try to find a diagnosis for their son. Mnookin details the multiple doctors, lack of money, frustration, and disappearing hope as the parents struggled to find a name for the condition making their son wheelchair bound and body like “jelly” (191).
Mnookin uses the story of the Mights to describe the hardships many parents face when trying to discover diagnosis for new and accelerating rare diseases. Mnookin follows the couple’s story as they fight to encourage and empower other parents looking for answers on the diseases of their children.
What scene (key event or series of events) from the article did you find especially important for your understanding of the main issues being discussed? Why?
The key event that influenced my understanding was the parent's having to travel from doctor to doctor trying to find answers for their child's condition. Having a child with a rare disease can be incredibly stressful and this passage really showed that to me. This made me really appreciate the parent's efforts because they could have probably given up looking for a cure a long time ago. Cures for rare diseases may be extremely hard to find, however this just shows that through persistence progress can be made.
For my understanding of the main issues being discussed, I found it important how simply this rare disease could happen to anyone. Both parents had mutations in a specific gene that was passed on to their son, but not their other 2 kids. Ideally, this can happen to anyone trying to start a family on their own. It was disheartening to hear how much they went through, even as far as closing their son's college account to pay for medical expenses (Mnookin 192).
On page 195 when Mnookin talked about the doctors having to sequence and narrow down the results, was when I was better able to understand the main issues. Of course there was a lot going on, but they had to pinpoint what exactly was going on by ruling out thousands of options. This allowed me to realize how dangerous and rare the disease was.
It also helped me when they started finding people all over the world of. 202. This added to my realization that this was extremely rare needed to have awareness brought to it, so people can get the proper help they need.
I was intrigued from the start!! I wondered what could be wrong with Bertrand and I quickly became discouraged when Matt Might and Christina Casanova went to multiple specialists with no answer to why their child was severely disabled. It wasn’t until Bertrand went through genome sequencing that the scientists discovered a genetic mutation of the NGLY1 gene. Since Bertrand was the only case identified he could not be cleared for experimental treatment by the FDA. Regardless of the news, Matt was determined to find other patients that suffered from this condition. Just from Matt’s blog post titled, “ Hunting Down my Son’s Killer” he was able to find others around the globe that also suffered from the mutation and inspire scientists to do more research and raise awareness this rare genetic disorder.
The scene that helped me to best understand the main issue was when the Duke geneticist explained how genetic sequencing could be used to diagnose unknown conditions. Looking for differences between Bertrand's and his parents genomes could help pinpoint the cause of his problems (194). I realized after reading this how important this kind of research is. By sharing Bertrand's story while explaining genome sequencing, it helped me to better realize why we need to do it.
One scene that I found key to my understanding of the topic was on page 199 when Matt Might wrote the 5,000+ word essay/blog post title "Hunting Down My Son's Killer". To me this really expressed fully the desperation the Might family's was feeling during this particular moment in their life. I think the title itself showed the severity of the situation and how desperate the family was to find other children and families that are experiencing the same thing their family was. This section also made me stop reading the article and go and find his original blog post and read it because it piqued my interest into what he wrote and how well he wrote it to where medical professional were using it when diagnosing other children.
The two scenes that enhanced my understanding were the descriptions of the Might's going from hospital to hospital and doctor to doctor to try and find a diagnoses for their son, and the scene where all of the families who have a child with NGLY1 met for the first time to discuss their experiences of caring for a child with NGLY1. These two scenes helped with my understanding because they provided a detailed illustration of how hard it was on the Might's to continuously receive false diagnoses from doctors and how hard it was to see their child in pain. It also helped me realize how hard it is for researchers to look at other cases for research purposes in order to help diagnose people with rare diseases.
- Alexis S.
I think the one scene that was important to me was the scene where they were traveling from doctor to doctor to try to find help for their child. My cousin was born with multiple health problems and I saw and experienced first hand how stressful it is to try to help a child when their condition can not be helped or identified. But this scene also shows the love a parent has for their child and the lengths that they will go to to ensure that their child is safe, happy, and healthy.
I feel that the scene where Bertrand was "rushed to the emergency room after suffering a series of life-threatening seizures," but the technicians couldn't start an IV due to his scarred vein from the several previous tests was the most important scene for understanding their situation. This scene fully captures the hardships parents face when trying to help identify and treat their children with rare conditions as they want to do anything they can to help, although it my be causing more problems for the child. I couldn't imagine how hard it must've been for the Mights to have to get so many tests done on their infant, who hasn't developed enough to not be so effect by those tests.
I thought the story was rather intriguing but also incredibly sad. The parents kept taking him to doctor after doctor desperately searching for someone to help them identify the cause of their sons illness. Finally they found hope in the form of genetic testing and I think this is a key part of the story and shows the importance of genetic testing and how it can help identify health issues that are not easily recognizable and give families hope and understanding.
The key scene that was most important to me was a theme of the whole story. This was how stressful it can be to have a child with a condition that doctors are not familiar with. This must of been so extremely stressful. Not only for the parents but as well as the child. I could not imagine having to close my child's college account just so I could pay their medical bills.
The scene(s) that seemed most important to me was the fact that the parents had to from doctor-to-doctor to possibly find an answer for the disease that was essentially killing their child. This stood out to me so much because I can not even begin to image the amount of panic that could possibly be going through not only the parents' heads, but the head of the child as well. In most cases, when something bad is happening to their child, parents react from a primal state. They do whatever they need to do in order to ensure that they can make their child better. In this case, they must have felt like they were at a loss, hopeless almost, because they wanted to help their son, but they didn't have the means necessary to do so.
Another key aspect that stuck out to me was the financial burden that health instances can put on a family. Even in the modern world, when something health related happens within a family, sometimes that member of the family considers getting assistance/treatment due to the financial burden that can possibly be put on the family. While at the same time, it seems that you are putting your bank account's bottom line above your life line. Which unfortunately, happens more than most would think.
All in all, this passage to me went far beyond the story element. It made me see the bigger picture.
The key scene or event that influenced my understanding was the parent's struggle of travelling from place to place and doctor to doctor to try to find a cure or treatment for the conditions of their child. I can relate to this not as a parent but as a friend of someone who has an extremely rare condition in which doctors scratch their heads at. For years she has been to many doctors throughout the entire state of Illinois and she gets relatively different answers from every doctor. No doctor that she has ever been to so far has ever been able to give her some sort of definite treatment or answer as to why she has fairly inconsistent seizures or what may trigger them. Her mom puts in just as much effort if not more than the parents in the article to find answers to her daughters condition. This just shows how frustrating it can be to have an extremely rare condition with no answers and relatively no treatment or let alone a cure.
Many scenes helped me better understand the issue such as in the beginning when their child was born, when not being able to comfort their own child it made them feel as though they were not good parents. It also must have been difficult to go to a doctor expressing concern and them brushing it off and telling you there's nothing to worry about, and later to find out your child has a life changing condition that doctors aren't even sure how to cure or what it is. Being a parent to a child with a condition could already be scary and challenging but not being able to do anything about it can just make the situation worse.
the scenes that influenced my understanding came from page 192 and page 194. In page 192, the simple fact that the Mights went from doctors to doctors enhanced the odd that this disease would more likely be untreatable. In page 194, the explanation the narrator is giving made Bertrand's case look so difficult. the I may add that this experience can be very traumatizing. Not later than last week, I was watching a documentary where perfectly healthy kids would start behaving strangely and get sick over night. In that documentary, parents would also travel the world, book appointments and wait for 3 to 6 months to meet a specialist, just like Bertrand did. I cannot imagine how parents could feel hopeless facing these type of issues.
The scene that I found most helpful to my understanding was the explanation of the NGLYI gene. As it says on pg. 196, "the gene operates in cells throughout the body." The malfunction of this one gene could complicate a whole spectrum of the biological systems. Seeing specialist encounter this gene every other year displayed how peculiar yet concerning it was. It especially helped me understand that the NGYLI gene did not mutate when Bertrand was born, but that his parents individually hosted a unique mutation of the gene and Bertrand adopted them both. This showed me that he was a rare victim of circumstance and intrigued me to learn more about this gene.
The scene that stuck out the most was the fact that the parents had to go to multiple different doctors that knew their stuff to figure out a rare possibility was killing their child. All of this headache and searching left financial burden and you never really understand the lengths that parents will go through to help their child no matter how much it could cost in the long run.
I think the whole article held importance. Children are already complicated humans and then you add having an unknown condition into the mix and that adds an incomparable amount of stress onto the parents, doctors, and Childs life. When the parents finally have some hope in the genetic testing this shows importance of not giving up on your loved ones no matter how difficult situations may be at times. The Mights had to go through so much for their child and the amount of stress they had to undergo was proof that people will do anything for their children.
The most important part for me was when the parent's went to multiple doctors for their son. They did everything they could to find answers for their child's rare disease. I know it is probably very difficult and exhausting when it comes to going through such a rough time with your family. You could only imagine the parents blaming themselves due to the fact that they both carried the gene and didn't know. They even went to the lengths of withdrawing their son's college fund just to pay for his medical bills. It just goes to show how much parents sacrifice and to what lengths they will go for their child.
I thought this was a very sad story. The thought of the constant struggle to find answered from doctors and receiving none brings tears to my eyes. I cant imagine being a parent and not knowing what is wrong with my child. Its sad that people have to go theough this and may never know the answer or find a cure.
The whole story was sad to me because I had to experience a similar setting with my little cousin. The scene that really stroke me was hearing the doctors that they didnt know what was wrong with him and them having to travel from hospital to hospital getting their hopes shattered everytime. My cousin's doctors were able to diagnose him, but the medicine they gave him was not working and the doctors did not know why.
This whole story shed some light on why genetic testing is so important. Genetic testing earlier on would have saved the family from alot of heartbreak of going from doctor to doctor. Also, it should be made more affordable because the fact that the family had to choose between Bertrands future and his health now is very heartbreaking and an impossible decision to make.
The most important scene to me was when the doctors kept concluding what was wrong with Bertrand, and they kept getting proven wrong by additional tests. I think this is important because so many people are misdiagnosed and it can really cost people their lives. I feel that doctors need to stop just trying to diagnose people with the first thing they come across, I think extensive research needs to be done before concluding what disease someone actually has.
The most important parts were when at first they believed it would be unable to diagnose the child then after years doctors kept diagnosing Bertrand and it was wrong. I think the fact that so much money that is being spent into testing and figuring out what the problem is discourages patients and the families. Even on page 201 Kristen was ready to give up looking for what was wrong and how to cure Betrand after so many doctor visits.
The most important scene to me was when the families had gotten together and discussed everything that they had been through and one of the mothers had stated "It feels like we've come home, but to a home we didn't know we had." to me this statement gathers the information that I have read. That no one is alone in the world, and that you shouldn't give up no matter what obstacles are in your way.
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