Hope is the want for something to happen. I want a treatment and a cure to be found now for ALS. I will never give up hope, because I will never stop wanting ALS cured. The past two years have been a scary roller coaster, one that has made me tired, a kind of tired that sleep cannot fix. ALS takes a family’s life and turns it upside down. Bert and I rang in the New Year on vacation in Florida with our best friends and children; it was a difficult trip for a lot of reasons. The trip was hard, the drive was far, it was difficult on Bert physically and for both of us mentally. It was a little sad because we both knew that this trip was not like any of our previous times in Florida with our friends, and it left a question of if we would ever be able to make this trip again? Going to visit our friends in Florida is common for us, we go almost every year, we knew it would be harder this year but both Bert and I wanted to go; to be truthful because neither of us wanted ALS to dictate what we do or where we go. That might sound silly but it is us still having control and for that reason we went and although it was difficult we did have a good time. The weather was beautiful, sunny and 80 degrees, we enjoyed the company of our friends and were happy to see Sophia and Alex happy. Still when the clock struck midnight we felt a bit nervous for what 2015 would bring and would we be able to stay in control? The drive home was quiet; that Saturday I quickly unpacked and feverishly took down all the Christmas decorations, another holiday behind us. I didn't have much time to feel too sorry for myself and I knew that was not an option because it would be of no help to Bert. He is the reason I don’t feel sorry for myself, he is the reason I can always find the positive. Bert is happy, he is a fighter, and he is my reason for hope. And anyway we had to get to Boston to participate in a program for ALS research at ALS TDI.
The program is called Precision Medicine Program. I could not wait to write this blog to tell everyone about this research, it is very exciting, and I feel even more hopeful after our visit to ALS TDI. First of all I think it is important to know the background story of ALS TDI (ALS Therapeutic Development Institute) formerly known as ALS Therapeutic Development Foundation. A brother and his family founded ALS TDI, they literally built it form nothing with the motivation of finding a treatment or cure for their brother and son who was diagnosed with ALS. Stephen Heywood was twenty-nine years old when he was diagnosed with ALS, his older brother James recognized that there was not enough being done fast enough for those with ALS and literally with the help of friends and family he sought out to find a cure and in the process ALS TDI was born. There is a book called His Brother's Keeper by Jonathan Weiner that tells the story of this remarkable family and their path to save their brother/son. I read it a year or so ago along with anything and everything to do with this disease, it was my only source of feeling in control...knowledge that is. I felt like I could relate to this close knit family as I have siblings quite similar that would go to the ends of the earth for me and my family. The story behind ALS TDI made it fascinating to actually see the building in person, like watching a movie and then seeing the real thing. Bert and I both found the facility amazing, it has a different feeling unlike any other place we have been. The people there both scientists and supportive staff all have some personal connection to ALS. The walls are decorated with pictures of families just like ours who are living with ALS and some of the people in those pictures sisters, brothers, friends of the PALS actually work for ALS TDI now. There is a sense of urgency that pumps through the space, a feeling that this lab is not just a career for the people there but rather a mission. They all seem to understand the pressure of limited time ALS brings and the pictures on the wall hang as a reminder that time is running out for those living with ALS right now. When you enter the space a true feeling of HOPE is in the air...the people here believe that a treatment and or cure will be found and they are in a hurry to find it. If you have the opportunity read the book His Brother's Keeper or see the documentary So Much So Fast. Now, to tell you about the Precision Medicine Program.
The Precision Medicine Program that ALS TDI is conducting is best described as a tissue sample collection that is being used to speed up drug discovery. In lay-mans terms it is people with ALS as well as healthy people donating tissue samples and sharing their medical history so that scientists can study ALS and screen thousands of drugs quickly. This science is exciting in and of itself but what makes it even more thrilling is that it was sped up and able to accept many more patients than originally thought due to the ALS Ice Bucket Challenge. It is a great example of the positive that has come from the Ice Bucket Challenge and shows clearly why money is needed to solve this disease. I am going to explain this program as Bert participated in it in my own words and through our perspective, but to be completely accurate you should visit www.alstdi.net to read about this study. First off, there is a link on the ALS TDI website for pre screening, it's very easy to use, click on it and you will be directed on what steps to take to become involved in the study. After the initial contact was made Bert received a phone interview and answered some questions about his medical history, soon after he was accepted into the program and an appointment date was set for us to go to Boston where he would give his blood and tissue sample. On January 6, 2015 we met a lovely lady named Jan Seeler at Mass General Hospital who accompanied us to a dermatology office where they took a tiny sample of skin from Bert's forearm and some blood. The tissue sample was placed in a cooler and we traveled across town to Cambridge to ALS TDI where we received instruction on what would happen next with the tissue sample, the blood and what Bert's job would be from home. The whole process took a couple of hours and that included a tour of the ALS TDI lab.
There are basically three parts to PMP, the first of which is the blood sample. Bert donated some blood (a few vials) which were sent off to another lab to test initially for safety labs (this is to rule out any other disease that could possibly be present) then they will sequence his genome or get a genetic picture. There are something like 30 genetic mutations associated with ALS so this sequence will be formatted so that we will be able to see a genetic picture. The scientists are looking across patients to find similar genetics. Bert will be able to see his own genetic picture if he chooses to. The second piece of the program is the skin biopsy or the tissue sample. With this tissue they will create stem cells and they will create neuron cells, it is called an induced pluripotent stem cell (iPSc) line from the skin biopsy. Now, I am not a scientist...I am a nurse so I am not an expert on pluripotent stem cells;) but what I understand is that Pluripotency comes from the Latin plurimus and means very many, potens means having power so in plain English it means a stem cell that comes from the skin tissue that Bert gave can be turned into any one of three types of cells one of which is the neurons from the nervous system...the kind of cells the scientists here are creating are induced meaning that they are what I described above but they are made with a specific expression of certain genes...that is about as far as I can go with this because it gets too complicated for me, I am sure that one of the scientists at ALS TDI would love to explain it in more detail so for more info call them:) Once the cells are ready drugs and compounds will we tested on them, they are looking for the cells to have a healthy response. The really cool thing about all this is that the patient can see everything happening remotely via a website. The scientists will be studying Bert and looking across all the patients for things like genetic makeup, skin cells, neurons, physical similarities; they will test the drugs and compounds looking for patterns across patients. All the testing in mechanized or done by robots also known as drones. The easiest way for me to understand or picture it is how Jan explained it; the cells grow and are spread in a tray, then a grid is placed over the tray and the drugs and compounds are dropped into the grid...the mission being to find drugs as fast as they can. Finally, the last part of the program is the physical part. The patients progression will be monitored, Bert will answer the questions for the ALSFRS, do a voice recording once a month, and have his physical muscle activity tracked for one week every month. This is all done remotely with trackers that are Velcro bracelets with a small square monitor on them the technical name for them is actograph, they are worn on the wrists and the ankles. The bracelets are kept on for 6 days each month, three of the days the patient completes a set of exercises that are logged into the computer. The scientists track the patients activity. Bert thinks this is very exciting because from the beginning he felt like he was the only one paying close attention to his activity and progression, he did not like that because nothing could be done for ALS that no one really worried about concretely measuring what was happening and how it is different or the same between patients, so he is thrilled at the concept that this will be studied.
I hope you were not bored, I hope you did not doze off reading all that information. I write because we are so excited about this opportunity to be part of a study like this and because I want so badly for people to understand how this brings hope to those people living with ALS who know that the clock is ticking and that the science is out there to be able to solve the mystery. I am frustrated at times because I want people to over come their discomfort with a disease like ALS that changes a person so greatly physically but leaves them mentally sharp, I want people to put their fears aside, their discomfort aside and always remember that my husband and all the many other people who are fighting ALS are just like them. I want my friends and family to be excited about this science too, I want them to be knowledgeable and spread awareness so that the ALS Ice Bucket challenge can continue and we can keep funds coming so ALS TDI can study every patient that has ALS. So that all the many scientists and doctors at centers like ALS TDI, The Robert Packard Center for ALS Research at Johns Hopkins and all the other centers conducting research can continue searching for a cure and continue to do so timely. Science and research is important and hopeful. I will end with a quote that I love, it sums up science, life, and hope all in one..."Learn from yesterday. Live for today, Hope for tomorrow. The important thing is Not to stop questioning." ~Albert Einstein
xoxo~Jennifer
The program is called Precision Medicine Program. I could not wait to write this blog to tell everyone about this research, it is very exciting, and I feel even more hopeful after our visit to ALS TDI. First of all I think it is important to know the background story of ALS TDI (ALS Therapeutic Development Institute) formerly known as ALS Therapeutic Development Foundation. A brother and his family founded ALS TDI, they literally built it form nothing with the motivation of finding a treatment or cure for their brother and son who was diagnosed with ALS. Stephen Heywood was twenty-nine years old when he was diagnosed with ALS, his older brother James recognized that there was not enough being done fast enough for those with ALS and literally with the help of friends and family he sought out to find a cure and in the process ALS TDI was born. There is a book called His Brother's Keeper by Jonathan Weiner that tells the story of this remarkable family and their path to save their brother/son. I read it a year or so ago along with anything and everything to do with this disease, it was my only source of feeling in control...knowledge that is. I felt like I could relate to this close knit family as I have siblings quite similar that would go to the ends of the earth for me and my family. The story behind ALS TDI made it fascinating to actually see the building in person, like watching a movie and then seeing the real thing. Bert and I both found the facility amazing, it has a different feeling unlike any other place we have been. The people there both scientists and supportive staff all have some personal connection to ALS. The walls are decorated with pictures of families just like ours who are living with ALS and some of the people in those pictures sisters, brothers, friends of the PALS actually work for ALS TDI now. There is a sense of urgency that pumps through the space, a feeling that this lab is not just a career for the people there but rather a mission. They all seem to understand the pressure of limited time ALS brings and the pictures on the wall hang as a reminder that time is running out for those living with ALS right now. When you enter the space a true feeling of HOPE is in the air...the people here believe that a treatment and or cure will be found and they are in a hurry to find it. If you have the opportunity read the book His Brother's Keeper or see the documentary So Much So Fast. Now, to tell you about the Precision Medicine Program.
The Precision Medicine Program that ALS TDI is conducting is best described as a tissue sample collection that is being used to speed up drug discovery. In lay-mans terms it is people with ALS as well as healthy people donating tissue samples and sharing their medical history so that scientists can study ALS and screen thousands of drugs quickly. This science is exciting in and of itself but what makes it even more thrilling is that it was sped up and able to accept many more patients than originally thought due to the ALS Ice Bucket Challenge. It is a great example of the positive that has come from the Ice Bucket Challenge and shows clearly why money is needed to solve this disease. I am going to explain this program as Bert participated in it in my own words and through our perspective, but to be completely accurate you should visit www.alstdi.net to read about this study. First off, there is a link on the ALS TDI website for pre screening, it's very easy to use, click on it and you will be directed on what steps to take to become involved in the study. After the initial contact was made Bert received a phone interview and answered some questions about his medical history, soon after he was accepted into the program and an appointment date was set for us to go to Boston where he would give his blood and tissue sample. On January 6, 2015 we met a lovely lady named Jan Seeler at Mass General Hospital who accompanied us to a dermatology office where they took a tiny sample of skin from Bert's forearm and some blood. The tissue sample was placed in a cooler and we traveled across town to Cambridge to ALS TDI where we received instruction on what would happen next with the tissue sample, the blood and what Bert's job would be from home. The whole process took a couple of hours and that included a tour of the ALS TDI lab.
There are basically three parts to PMP, the first of which is the blood sample. Bert donated some blood (a few vials) which were sent off to another lab to test initially for safety labs (this is to rule out any other disease that could possibly be present) then they will sequence his genome or get a genetic picture. There are something like 30 genetic mutations associated with ALS so this sequence will be formatted so that we will be able to see a genetic picture. The scientists are looking across patients to find similar genetics. Bert will be able to see his own genetic picture if he chooses to. The second piece of the program is the skin biopsy or the tissue sample. With this tissue they will create stem cells and they will create neuron cells, it is called an induced pluripotent stem cell (iPSc) line from the skin biopsy. Now, I am not a scientist...I am a nurse so I am not an expert on pluripotent stem cells;) but what I understand is that Pluripotency comes from the Latin plurimus and means very many, potens means having power so in plain English it means a stem cell that comes from the skin tissue that Bert gave can be turned into any one of three types of cells one of which is the neurons from the nervous system...the kind of cells the scientists here are creating are induced meaning that they are what I described above but they are made with a specific expression of certain genes...that is about as far as I can go with this because it gets too complicated for me, I am sure that one of the scientists at ALS TDI would love to explain it in more detail so for more info call them:) Once the cells are ready drugs and compounds will we tested on them, they are looking for the cells to have a healthy response. The really cool thing about all this is that the patient can see everything happening remotely via a website. The scientists will be studying Bert and looking across all the patients for things like genetic makeup, skin cells, neurons, physical similarities; they will test the drugs and compounds looking for patterns across patients. All the testing in mechanized or done by robots also known as drones. The easiest way for me to understand or picture it is how Jan explained it; the cells grow and are spread in a tray, then a grid is placed over the tray and the drugs and compounds are dropped into the grid...the mission being to find drugs as fast as they can. Finally, the last part of the program is the physical part. The patients progression will be monitored, Bert will answer the questions for the ALSFRS, do a voice recording once a month, and have his physical muscle activity tracked for one week every month. This is all done remotely with trackers that are Velcro bracelets with a small square monitor on them the technical name for them is actograph, they are worn on the wrists and the ankles. The bracelets are kept on for 6 days each month, three of the days the patient completes a set of exercises that are logged into the computer. The scientists track the patients activity. Bert thinks this is very exciting because from the beginning he felt like he was the only one paying close attention to his activity and progression, he did not like that because nothing could be done for ALS that no one really worried about concretely measuring what was happening and how it is different or the same between patients, so he is thrilled at the concept that this will be studied.
I hope you were not bored, I hope you did not doze off reading all that information. I write because we are so excited about this opportunity to be part of a study like this and because I want so badly for people to understand how this brings hope to those people living with ALS who know that the clock is ticking and that the science is out there to be able to solve the mystery. I am frustrated at times because I want people to over come their discomfort with a disease like ALS that changes a person so greatly physically but leaves them mentally sharp, I want people to put their fears aside, their discomfort aside and always remember that my husband and all the many other people who are fighting ALS are just like them. I want my friends and family to be excited about this science too, I want them to be knowledgeable and spread awareness so that the ALS Ice Bucket challenge can continue and we can keep funds coming so ALS TDI can study every patient that has ALS. So that all the many scientists and doctors at centers like ALS TDI, The Robert Packard Center for ALS Research at Johns Hopkins and all the other centers conducting research can continue searching for a cure and continue to do so timely. Science and research is important and hopeful. I will end with a quote that I love, it sums up science, life, and hope all in one..."Learn from yesterday. Live for today, Hope for tomorrow. The important thing is Not to stop questioning." ~Albert Einstein
xoxo~Jennifer
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