tag:blogger.com,1999:blog-38486576581396923352024-03-21T12:20:43.857-07:00Number 1 is the Loneliest Number- my son and ATG4Djllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.comBlogger9125tag:blogger.com,1999:blog-3848657658139692335.post-55721389426039495752023-02-13T08:24:00.005-08:002023-02-13T08:24:47.133-08:00ASHER Syndrome, no longer unnamed<p></p><div class="separator" style="clear: both; text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhkM-Xi9INQldsxKOGa5sGxh7jS7fbv6LenWPzmbBPh42WUwY43EZQ2Jql548oWav5Af7nzmEH5_CCMSv2kButmxWheLaLgRbstg57lWqF03A8RxYX87hYuGo9chAxN7lEmJfQsNubgL6ZhjeD1Xefa0yTViJp3914cTWZ-6lsPRpEVnqfcHNadhzNO/s1733/Screenshot_20230213_094507_Shutterfly.jpg" style="margin-left: 1em; margin-right: 1em;"><img border="0" data-original-height="1733" data-original-width="1040" height="200" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhkM-Xi9INQldsxKOGa5sGxh7jS7fbv6LenWPzmbBPh42WUwY43EZQ2Jql548oWav5Af7nzmEH5_CCMSv2kButmxWheLaLgRbstg57lWqF03A8RxYX87hYuGo9chAxN7lEmJfQsNubgL6ZhjeD1Xefa0yTViJp3914cTWZ-6lsPRpEVnqfcHNadhzNO/w120-h200/Screenshot_20230213_094507_Shutterfly.jpg" width="120" /></a></div><div class="separator" style="clear: both; text-align: center;"><br /></div>Its been so long since I have actually completed an article to publish in this blog. I have written and rewritten so many times, never being able to complete a full thought. This blog started out as a way to find answers for my son's unnamed disease, "the first person to be identified with a neurodegenerative disease that has only been identified in dogs," was what our Genetics clinic had told us. We were also told we had a better chance of winning the lottery than to have married someone else with a genetic mutation on this gene and therefore finding interest would be very difficult, maybe impossible. Asher was 4 years old.<p></p><p>So long story short this blog was started and a friend of a friend of a friend, read my cry for<br />help and passed it on to a colleague at the NIH. With the assistance of our Genetics Clinic here, and several emails and using the UDN; we were able to go to the NIH out in Maryland and spend a very long, grueling but important week collecting data. The researchers and I kept in touch through the last few years and we even had spoke with more researchers along the way, in fact Asher is mentioned in another research publication in his discussion of human ATG variants. </p><p>Covid happened and of course the whole world slowed down but about a year ago, I was asked to come to a virtual meeting with the researchers at the NIH and other physicians. They went over their findings and told me the paper was almost completed and then would be submitted for publication. They asked what my goals out of the publication would be and I said, I would like to find others to perhaps gather more information. I explained this work is part of my son's legacy, that this work may or may not change his life but it will help others so they do not have to go through what we have. I also asked if it was going to be named.</p><p>A name? Right!?! It changes nothing, the path and the outcome is still the same however to us a name was huge. A name means this no longer some vague mashing together of words in chart, or having to describe it by his symptoms and people look at you and say, "Yeah, but what's it called?" A name means this is real. </p><p>It was decided they would name it ASHER Syndrome, <b>A</b>TG4D-related, <b>S</b>pectrum of cerebellar findings, <b>H</b>ypotonia and joint laxity, <b>E</b>arly Onset, <b>R</b>egression or delay. I cried when they suggested it. Tears of honor, joy, relief, and a little sadness. </p><blockquote style="border: none; margin: 0px 0px 0px 40px; padding: 0px;"><blockquote style="border: none; margin: 0px 0px 0px 40px; padding: 0px;"><blockquote style="border: none; margin: 0px 0px 0px 40px; padding: 0px;"><blockquote style="border: none; margin: 0px 0px 0px 40px; padding: 0px;"><blockquote style="border: none; margin: 0px 0px 0px 40px; padding: 0px;"><blockquote style="border: none; margin: 0px 0px 0px 40px; padding: 0px;"><p></p><p></p></blockquote></blockquote></blockquote></blockquote></blockquote></blockquote><p>The very same emotions were felt on Friday, February 10,2023, when the article was published and now its out there for the world to see. All of the hard work of the researchers and myself paid off. Its out there now and maybe just maybe more to come...</p><p></p><div style="text-align: center;"><br /></div><br /><p></p><p><br /></p><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; color: #222222; font-size: 16px;">Morimoto, M., Bhambhani, V., Gazzaz, N. </span><i style="background-color: white; box-sizing: inherit; color: #222222; font-family: -apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif; font-size: 16px;">et al.</i><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; color: #222222; font-size: 16px;"> (2023, Feb 10). Bi-allelic </span><i style="background-color: white; box-sizing: inherit; color: #222222; font-family: -apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif; font-size: 16px;">ATG4D</i><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; color: #222222; font-size: 16px;"> variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. </span><i style="background-color: white; box-sizing: inherit; color: #222222; font-family: -apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif; font-size: 16px;">npj Genom. Med</i><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; box-sizing: inherit; color: #222222; font-size: 16px; font-weight: bolder;">8</span><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; color: #222222; font-size: 16px;">, 4 (2023). https://doi.org/10.1038/s41525-022-00343-8</span><div><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; color: #222222; font-size: 16px;"><br /></span></div><div><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; color: #222222; font-size: 16px;">Tamargo-Gómez, I., Martínez-García, G.G., Suárez, M.F. </span><i style="background-color: white; box-sizing: inherit; color: #222222; font-family: -apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif; font-size: 16px;">et al.</i><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; color: #222222; font-size: 16px;"> ATG4D is the main ATG8 delipidating enzyme in mammalian cells and protects against cerebellar neurodegeneration. </span><i style="background-color: white; box-sizing: inherit; color: #222222; font-family: -apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif; font-size: 16px;">Cell Death Differ</i><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; color: #222222; font-size: 16px;"> </span><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; box-sizing: inherit; color: #222222; font-size: 16px; font-weight: bolder;">28</span><span face="-apple-system, BlinkMacSystemFont, "Segoe UI", Roboto, Oxygen-Sans, Ubuntu, Cantarell, "Helvetica Neue", sans-serif" style="background-color: white; color: #222222; font-size: 16px;">, 2651–2672 (2021). https://doi.org/10.1038/s41418-021-00776-1</span></div><br />jllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.com0tag:blogger.com,1999:blog-3848657658139692335.post-90631955648448054332021-02-28T10:30:00.002-08:002021-02-28T10:30:34.237-08:00Still the only one?<p style="text-align: center;"><br /></p><p style="text-align: left;">In light of today being Rare Disease Day, I thought it fitting to do a MUCH needed update to this blog and a promise to keep it going.</p><table cellpadding="0" cellspacing="0" class="tr-caption-container" style="float: right;"><tbody><tr><td style="text-align: center;"><a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgwLa1Q1hrmR1c0yH5mBwqOAoDQ1HyMByHMzt4aetRgO1wI5sPNPTsLwZw7xI5RZcmALRhTvzmOqXh4kZGr5XtW48OS5iX54hbjZMGwiTfpDcNjOglqL9q37jIATmFWRufWQ55QvAmMJ9I/s1364/20200422_094217.jpg" imageanchor="1" style="clear: right; margin-bottom: 1em; margin-left: auto; margin-right: auto;"><img border="0" data-original-height="1364" data-original-width="796" height="320" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgwLa1Q1hrmR1c0yH5mBwqOAoDQ1HyMByHMzt4aetRgO1wI5sPNPTsLwZw7xI5RZcmALRhTvzmOqXh4kZGr5XtW48OS5iX54hbjZMGwiTfpDcNjOglqL9q37jIATmFWRufWQ55QvAmMJ9I/w187-h320/20200422_094217.jpg" width="187" /></a></td></tr><tr><td class="tr-caption" style="text-align: center;"><span style="font-size: x-small;">taken 3-2020 while on vacation</span></td></tr></tbody></table><br /> So many times have I sat down to write, so many nudges from God, and each time I was unable to do so. Maybe it was my way of living in a little bit of denial, making excuses of being too busy or what not. To write this is to admit each and every time that I look at it or respond that this real and feel all of the emotions that go along with it. I could also blame my job and Covid 19 for the delay, as I am an Critical Care Nurse and we'll just say its been a difficult year. Whatever it may be, here we are today again wishing none of this was real but facing it and moving forward.<p></p><p style="text-align: left;">So first off, for those of you who don't actually know me, my son Asher has a very rare neurodegenerative disease. In fact, he is the first person EVER to be identified. It is a recessive disorder involving gene ATG4D. Both of our single mutations are rare but known, statistically we have been told we had a better chance of winning the lottery than having a child with someone else with either of these mutations. At this time, we still are unsure if there are any others with this disorder. We were informed by the NIH there may be 1 other child in Canada however they have been unable to get much information from them. </p><p style="text-align: left;">Asher is 9 years old now and in the 4th grade. Asher at first glance appears to be a "normal" 9 year old. He is still walking, running, jumping, playing, etc. He is a very curious person, always trying to figure out how things work and what each button does, especially his father's. He loves to make people laugh and a good cuddle. He is also very strong willed, which I have to frequently remind myself serves him well when applied appropriately. I believe this is partially why he is still doing as well as he is doing. </p><p style="text-align: left;">His ataxia has progressed since my last posting. His hands tremble much more frequently and school has moved away from having him write with paper and pen to using the computer to type or use talk to text software. He also has ataxia of speech. He is still able to be understood but his speech pattern is slow and sometimes has difficulties with pronunciation. His gait seems to be stable at this time and has not had many problems since the initiation of some of his medications, in fact he is doing so well he is not having to wear his orthotics!</p><p style="text-align: left;">Asher really struggles in school. It is difficult for him to perform tasks that cross back and forth across the brain (right side to left side and vice versa). This encompasses so many things such as reading, writing certain letters/numbers, being able to tie his shoes, etc. Thus he gets pulled from class frequently to the resource room making it difficult to still make him feel "part" of the class. His school and teachers are doing a <u>tremendous</u> job with him! I can not say enough good things about them! They do whatever they can to make him feel part of the class and utilize the learning style that works best for him.</p><p style="text-align: left;">Since my last post, we have not received any official results from the NIH study. Recently we were told it will be soon and they were deciding on how best to proceed with the information, including informing us in a manner we can understand. I also have been contacted by a couple of other researchers and they are also doing some work on the subject. I feel blessed to have a few different studies going however I know this last year have delayed some of the progress.</p><p style="text-align: left;">In light of all this, I try to hold out for some hope. Hope of any more understanding and answers. Hope of a name for this stupid disease/disorder, you wouldn't believe the relief of giving it a name vs this calling it this vague disorder would give to us. Hope they will then be able to put it in the official genetic database for other researchers instead of only being listed as a candidate gene. We would then have a real chance of finding others out there. Lastly the hope for a slow progression and a happy meaningful life for my son, whatever that may look like. </p><p style="text-align: left;"><br /></p>jllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.com2tag:blogger.com,1999:blog-3848657658139692335.post-802274343060088572016-09-24T10:35:00.002-07:002016-09-24T10:35:55.496-07:00National Institute of Health update!<div class="separator" style="clear: both; text-align: center;">
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Ok, so I know it's been way too long since I last updated everyone. It was a crazy summer and then we slammed into fall! Time flying by is an understatement!<br />
Over the summer we took a short break from OT but started pool therapy for PT. Asher loved it and it was a great modality for him! He had always been obsessed with anything water so this was a definite win for him! Other than that just the usual juggle of parks, kids, friends, dance (Lorelei), swimming, appointments, birthdays, and of course work.<br />
Asher is now 5 years old and started kindergarten! He loves his new teacher and was very excited one of his best friends is in his class! We had to have "the meeting" of course before school began to go over his IEP and so the whole team could learn more about him and what to watch for. <br />
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We also got our official date and approval for going to the NIH, the largest research campus in the United States, and we are leaving tomorrow! This was all arranged sometime in August and its here already! Asher, Bob , and I will be going and thanks to fabulous grandparents Lorelei will get to stay home and maintain her normal schedule and routine!<br />
They will be performing a variety of tests and lots and lots of interviews. They will be studying him from top to bottom, including his teeth! It all so overwhelming as our intent is to walk the line of finding answers without turning our son into a lab rat. I have spoken to a few of the specialists already and so far they have all been very kind and assure me that we can refuse any test for any reason and it will not compromise the rest of the study or our eligibility.<br />
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I promise I will keep you all updated as we go but we probably will not have any more information on Asher's study for quite some time. Things take time and some tests take a lot of time to analyze, especially when you are not always sure what you are looking for. I have also been reminded, by several people, the answers we do get may not be black and white and may be more shades of gray. As you all know, life in the gray is very familiar to us already and all we can do is hope and pray for less of it. So here's to hope and safe travels!<br />
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<br />jllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.com4tag:blogger.com,1999:blog-3848657658139692335.post-30749091326724535672016-05-07T05:45:00.000-07:002016-05-07T06:51:28.395-07:00"I wish to swim with the dolphins!"<div class="separator" style="clear: both; text-align: center;">
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We're on our way home from the most fantastic week that all started with a wish, some loving friends and family, and an incredible organization called Wishes & More! Asher's wish was to swim with the dolphins and we were sent on a Disney Cruise by Wishes & More with a dolphin excursion in Cozumel!<br />
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It has been a surreal experience! We were able to get away and be taken care of like we have never been before! Wishes & More arranged everything and Disney Cruiseline took it from there! We only had to try and remember what day of the week it was. We truly could have not had a better experience and are eternally grateful for this experience!<br />
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jllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.com1tag:blogger.com,1999:blog-3848657658139692335.post-77824617187106783942016-03-09T16:36:00.001-08:002016-03-09T16:36:25.543-08:00Update!Just wanted to give everyone a quick update on what one little blog can do! We are very excited to hear, there are researchers at the NIH who would like to further examine Asher as part of their research project! This is a huge step forward! More details to come! jllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.com0tag:blogger.com,1999:blog-3848657658139692335.post-90486040320999575902016-02-29T08:17:00.002-08:002016-02-29T08:17:39.319-08:00An update from Life in the Gray<div class="separator" style="clear: both; text-align: center;">
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Life in the gray. I refer to that phrase frequently because that is what our life had become. So called answers, end up with very little clarity and yet more questions. Sometimes it's depressing but most of the time, it's just what it is. It's like we are trying to navigate in a really dense fog, so dense you can't even see much more than in front of your face. So we keep moving, attempting to navigate and praying we are moving forward but sometimes find out we have just been walking in circle. Nonetheless we continue onward because you never know what you will stumble upon in dense gray fog, some good, some not so good. <br />
So as an update to our journey, almost 2 weeks ago all 4 of us had our blood drawn and sent to the University of Michigan! We won't know anything for quite some time. They actually stated, "a long time," so what that actually means I have no idea because their idea of time is much differnt than mine. For example, an urgent appointment is someone within the next 3 weeks. We have also been warned that this may not provide any answers and if there is an answer, it may be more gray. So we continue to hope for the best but mentally prepare for the worst. <br />
In the last few weeks Asher also got glasses. The fact that he needed glasses really want much of a surprise, both Bob and I require correction, but what was interesting is the Dr he saw was extremely interested in Asher's diagnosis, as her husband is an animal neurologist and sometimes works to coordinate human doctors with animal scientists for those who have a candidate gene diagnosis! She then said they would be in contact with our team and try help in any way they can. <br />
Aside from that, Asher's hands are still weaker and he has an occasional intention tremor now in his hands. We noticed it while he was sick with a cold. His nuero symptoms are always worse when he's sick, as are most people with neurologic conditions. The plan is to have an EMG performed on his upper extremities when he has the skin patch biopsy done, as he will need a little sedation for both. We are just waiting to see if we can coordinate with the researchers in the UK, as legislature makes it difficult to send samples over seas. The tissue samples will be analyzed here with some help from the pathologist who worked with the dogs. The question is do we need an additional sample to send to the UK. We would rather to get it all done in one shot. <br />
Big thanks again to all who have shared. New readers continue to see this around the world and we have had several different contacts of interested partiesjllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.com0tag:blogger.com,1999:blog-3848657658139692335.post-64167494330926509902016-01-30T11:59:00.002-08:002016-01-30T11:59:16.848-08:00Progress, or something like thatJust wanted to give all of you out there a little update on what has been going on this week. People are still continuing to share around the world and we have been contacted by several different people about resources/ tools that are available to us. Our team of doctors have been hard at work as well. Communicating back and forth not only with each other but also reaching out to another researcher! Just this week there was a press release of a Dr. at the University of Michigan, about a set of siblings who have ataxia and it has been contributed to ATG5, a family member of ATG4D. They were able to examine it and determine how the autophagy process was disrupted. (<a href="http://www.biosciencetechnology.com/news/2016/01/rare-find-two-children-leads-discovery-about-autophagy" target="_blank">http://www.<wbr></wbr>biosciencetechnology.com/news/<wbr></wbr>2016/01/rare-find-two-<wbr></wbr>children-leads-discovery-<wbr></wbr>about-autophagy</a>) Our team reached out to them and they are very interested in studying Asher! They are a project that already has funding in place and it is much easier to ship samples to Michigan than across an ocean! The catch is, these samples are fragile so due to our cold climate can not be drawn until this spring and we have been warned it will take a long time to process the samples. So, yea more waiting but it still progress none the less. We also have been warned the answers we get back from any type of research may still be more gray than black and white. To which my answer is, as always, I have to at least try.<br />
We also have come closer to setting a time to do a skin patch biopsy. The materials needed have been collected and the pathologist located, who will also be working with a pathologist who worked on the project with the dogs. The team will be sending pictures of the slides for their examination. All that is left to do on this, besides scheduling, is a little more back and forth between the docs on the fine details. We hope to only do this once.<br />
In the meantime, we continue to go to work, go to multiple appointments, therapy, and try to live a "normal" life. Asher again is showing great strides, thanks to his SMOs, in PT however has taken a backslide in OT. His hands are weaker. He also been more behavioral this week and we have the challenge of determining if he is doing this because of his difficulties, possibly pain, disease progression, or just being a 4 year old boy. All are very possible.<br />
Lastly, I just want to thank each and everyone of you for your love and support. We could not have gotten this far without you. Your willingness to simply share our story has made a big impact on our lives. Thank you! We could not be more grateful!<br />
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jllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.com2tag:blogger.com,1999:blog-3848657658139692335.post-89827064232818192092016-01-21T19:01:00.003-08:002016-01-21T19:03:32.063-08:00Forward Movement!We have a researcher! A researcher was found from the UK who has been studying ATG4D in a functionality sense. We have been in contact via email and I am currently working on getting him in touch with Asher's doctors. We also have a couple of more leads to look into as well however Asher still remains the one and only at this time.<br />
Asher also had made great strides himself this week. He was fitted for SMOs (a type of brace/orthotic) and he took them home almost 2 weeks ago. He loves them! They have batman on them, which he chose of course, and was able to do things in PT today that he hasn't been able to do. A simple 2 footed jump is nothing to most of you but it was a big step for this guy! He has also has been able to run and walk more easily with less falls.<br />
This entire week we have felt incredibly blessed from the outreach and support of everyone. This little blog has been viewed over 9,000 times and had reached more than 10 differnt countries. A simple share from a friend, family member, and/or coworker has gotten us here! I urge everyone to keep sharing and follow along on this journey with us. Thank you!<br />
For all those first timers, make sure to read "seeking answers"jllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.com2tag:blogger.com,1999:blog-3848657658139692335.post-4446808082529475622016-01-18T15:00:00.001-08:002016-01-18T15:02:34.744-08:00Seeking Answers<div class="separator" style="clear: both; text-align: center;">
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My name is Jennifer Lange. I am a wife, a nurse, and the mother of 2 children Asher (4 years old) and Lorelei (8 years old). My husband, Robert, and I are desperately seeking answers for our son's disorder, a neurodegenerative vacuolar storage disorder that has only been identified in dogs with changes to Atg4d as the identified cause. <a href="http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005169">http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005169</a><br />
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Asher was born at 41 weeks gestation weighing 7 lbs 11oz. He sat up, crawled, climbed, walked and talked within appropriate times. He was strong but always a little clumsy. At his 2 year well check up, the pediatrician noted he was a little floppy for his development. She suggested getting him in the pool and try and strengthen up his core muscles. So we put him in swimming lessons, let him "swim" in our big tub and things looked good.<br />
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Then late August 2014, Asher was 3 years old and 2 months, we were out for a walk and stopped at a park. He got out of the stroller and was very euphoric and extremely uncoordinated. It lasted for a few minutes and then passed however the ataxia was still present. He was no longer able to walk up the stairs in a reciprocal manner, no longer able to pedal his tricycle, was having "staring" spells and was falling several times a day.<br />
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We took him to see a neurologist who ordered an EEG, a battery of blood work, and an mri. His was relatively normal with only short epochs of posterior delta slowing while awake. Initial blood work was fine however his mri showed moderate cerebellar atrophy. The neurologist ordered more blood work and an EMG. Blood work was normal except his carnatine level was mildly low. EMG was also normal. And we were referred to a biochemical geneticist for further testing, as he was thinking this may be a mitochondrial disorder.<br />
In the meantime, Asher was started on keppra as he was suffering absence seizures and lost consciousness on two occasions. He also started physical therapy (PT) and occupational therapy (OT) to help with some of his strength and coordination.<br />
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In November 2014, we saw the geneticist. They wanted to do whole exome sequencing, not just mitochondrial testing. They explained this was the latest and most exhaustive genetic testing available at this time. Of course we had to wait for the insurance company to sign off and then wait for another appointment in order to draw the blood. Dec 17 2014, all the of us had our blood drawn and now all there was to do was wait and wait.<br />
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At this point, we had fallen into a routine. Therapy 1-2 times a week, watch for seizures, increase Keppra, work, more blood tests, an absolutely useless second opinion from neurology, and watch the severity of his symptoms wax and wane.<br />
Finally at the end of June our tests results were back however the clinic told us they needed to do more research and they wanted us to make an appointment to come in and get the results. An "urgent" appointment was made for 3 weeks out.<br />
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At the appointment they informed us his test results were negative for both definitive mutations and variants in genes possibly associated with reported phenotype. However, his results for candidate genes revealed 2 variants of unknown clinical significance on ATG4D, c.266G>A(p.S89N) was paternally inherited and c.839a>G(p.Y280C) was maternally inherited. This mutation was only recently identified in a particular breed of dogs as the cause of a neurodegenerative vacuolar storage disease, in which my son exhibits the almost exact same symptoms, and they are 97% positive this is cause of his disorder. The genetics consoler further explained the mutations on ATG4D that my husband and myself possess, are known but are very rare. She even stated, "The chances of either of you having children with someone else who has a mutation on this gene are so low, you have a better chance of winning the lottery. We have gone from what we thought was a rare disorder to an extremely rare disorder. Asher is human number 1."<br />
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The geneticist then gave us a layman's term description of what is occurring in Asher's body. He compared the body to a house needing all different working parts to make it work. Autophagy genes are needed to pick up the trash from around your house to trash can. In Asher's case, his vacuum is broken and they don't know how to fix it. So his cells are building up with toxins and outdated material without an effective way to clean up and are not able to maintain neuronal homeostasis, which makes this a progressive disease. We then agreed to publish these results in hopes of getting more answers. <br />
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Currently Asher's symptoms wax and wane in severity. His hand grip is further weakened, he has become more lethargic, and has somewhat of an activity intolerance along with all of his other symptoms. We continue on with PT, OT, and various doctor appointments and specialties. He attends pre school and we continue to try balance raising an otherwise typical 4 year old boy and his difficulties.<br />
We are searching for answers, any information or any "share" of this blog is much appreciated. All it takes is for the right person to read this. jllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.com14