tag:blogger.com,1999:blog-3848657658139692335.post444680808252947562..comments2022-09-12T00:51:22.974-07:00Comments on Number 1 is the Loneliest Number- my son and ATG4D: Seeking Answersjllange79http://www.blogger.com/profile/01495629894358900295noreply@blogger.comBlogger14125tag:blogger.com,1999:blog-3848657658139692335.post-39807230012733780292017-02-21T22:43:36.662-08:002017-02-21T22:43:36.662-08:00Thank you for sharing what is going on with your s...Thank you for sharing what is going on with your son and your family. I am sure it is scary at first, but I also think that by sharing your story, you may be lead to the answers you are looking for. That is my hope and prayer for you and your family.<br /><br /><a href="https://medium.com/@USHealthWorksCA/helpful-therapies-for-foot-pain-occupational-therapy-companies-inform-22fc6434a312#.6kxdlbe2j" rel="nofollow">Leonardo @ US Health Works</a>Leonardohttps://www.blogger.com/profile/11489867691820225671noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-86204136222308478212016-09-29T15:58:52.571-07:002016-09-29T15:58:52.571-07:00This comment has been removed by the author.paalinihttps://www.blogger.com/profile/04289082338519861376noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-25688373945027227102016-01-26T10:51:53.913-08:002016-01-26T10:51:53.913-08:00You might want to talk to your doctors about possi...You might want to talk to your doctors about possibly trying an antioxidant called n acetylcysteine (nac). Antioxidants help remove toxins from the body, And this one has shown some promise in research in helping clean them up and those with ataxia and some neurodegenerative condition. Not a cure but may be of some help in delaying progression? My son takes it, who is also undiagnosed, and it is available over-the-counter as pills or pharmaNAC if your doctor is able to okay it with his list of meds. You can read about it in pubmed.Pudgy Pencilshttps://www.blogger.com/profile/15760418858514161626noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-37913565656534439212016-01-23T13:42:41.664-08:002016-01-23T13:42:41.664-08:00My son went from having grand mal(2-4 monthly), an...My son went from having grand mal(2-4 monthly), and drop seizures (20-80+ day), and started the ketogenic diet, after little success with keppra & depakote. He has not had a seizure since this diet was fully in his system (6 weeks after starting). Warmth to you mama, you're not alone.electrobabymamahttps://www.blogger.com/profile/00384126491592096076noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-84185120758392339042016-01-22T22:07:34.500-08:002016-01-22T22:07:34.500-08:00Hi Jennifer
Me again- I was just doing some readi...Hi Jennifer<br /><br />Me again- I was just doing some reading, so from what I can gather: ATG4 is a serine protease that converts LC3 I into LC3 II. Your son seems to have a somewhat defective ATG4 (serine protease enzyme) so that LC3 I does not get converted into LC3 II which results in the non-generation of the cytosolic autophagic vacuole, or in plain language the machinery that cleans up the trash in the cells is defective. Your options for treatment would be :<br /><br />• Bone marrow transplantation to slow disease progression<br />• Infusion of recombinant enzyme (gene therapy).<br />• Umbilical cord blood stem cell transplantation to restore the defective enzyme (serine protease ATG4)<br /><br />There is an assay that can measure the level of activity of ATG4- AU4S can measure ATG4 activity in living cells (culture) so you could use this to test the activity of the ATG4 enzyme to determine how severe the condition is. <br /><br />You can find the paper on PubMed, I would suggest contacting the authors for their opinion.<br />Autophagy. 2015;11(2):40315. doi: 10.1080/15548627.2015.1009773.<br />AU4S: a novel synthetic peptide to measure the activity of ATG4 in living<br />cells.<br />Ni Z1, Gong Y, Dai X, Ding W, Wang B, Gong H, Qin L, Cheng P, Li S, Lian J, He F.<br /><br />Please do get in touch with Genetic Alliance- they are a patient advocacy group and can help you with getting support and contacting the NIH. Sharon Terry the CEO is a personal friend and collaborator of mine. I work on the rare disease PXE, I am a PhD not an MD so the clinical side is not really my area of expertise. If you need to reach me my email is: MoitraK@trinitydc.edu<br />I am an Assistant Professor of Molecular Biology at Trinity Washington University in DC. <br /><br />Good luck!<br />All the best<br />Dr. Moitra<br />KayeMhttps://www.blogger.com/profile/13054577080544370071noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-73451798512332250622016-01-22T19:32:29.393-08:002016-01-22T19:32:29.393-08:00Hi Jennifer,
I wish you all the best for your son...Hi Jennifer, <br />I wish you all the best for your son and my heart goes out to you and your family.<br />You may want to attend this event and speak to people who are experts in rare diseases: https://rarediseases.info.nih.gov/news-and-events/pages/28/rare-disease-day <br /><br />The NIH also has a program and office for rare diseases- you may want to contact them for advice. Genetic Alliance is another resource: http://www.geneticalliance.org/<br /><br />Good luck<br />KayeMhttps://www.blogger.com/profile/13054577080544370071noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-718284434444520212016-01-20T16:43:24.805-08:002016-01-20T16:43:24.805-08:00Thank you so much Susan! Your magazine is so helpf...Thank you so much Susan! Your magazine is so helpful! A guide when no one is telling you what to do!jllange79https://www.blogger.com/profile/01495629894358900295noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-68761987421818127032016-01-20T14:16:12.877-08:002016-01-20T14:16:12.877-08:00Hi Jennifer!
Susan McClure here. I'm the pub...Hi Jennifer! <br /><br />Susan McClure here. I'm the publisher of Genome, that magazine you found in the waiting room! I've shared your blog on my social media pages as I am connected to many researchers, pharma execs and patient advocates. I hope that sharing your blog with a broader audience will help you with your search! Anonymoushttps://www.blogger.com/profile/01639161315760614693noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-64259128701929943912016-01-20T12:07:10.040-08:002016-01-20T12:07:10.040-08:00Thank you so much! I appreciate you taking time o...Thank you so much! I appreciate you taking time out of your day to read this and think of how you could help! Yesterday wad the first time I had heard of this and haven't had a chance to do yet but we will! jllange79https://www.blogger.com/profile/01495629894358900295noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-2644583071553219222016-01-20T11:03:14.744-08:002016-01-20T11:03:14.744-08:00My heart goes out to you.
Perhaps you already know...My heart goes out to you.<br />Perhaps you already know about this, but in case you don't, maybe it can help your family.<br />http://www.matchmakerexchange.org<br />http://www.ncbi.nlm.nih.gov/pubmed/26255989a scientisthttps://www.blogger.com/profile/08044586767336054371noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-44270294723945097882016-01-19T07:30:59.762-08:002016-01-19T07:30:59.762-08:00Blogging was suggested to me by one of the physici...Blogging was suggested to me by one of the physicians I work with as a way to get some answers. One of his friends has a child with a rare genetic disorder and within 2 months of blogging, they were able to obtain some answers. Quite frankly, the thought of doing this was very overwhelming and I did come in contact with his friend but I still was so unsure. Its so overwhelming to be t<br />so transparent on such a large scale. I spent the next 2 months praying about it and then 2 weeks ago I got my answer. I was in a multiple clinic waiting room and next to me was Genome Magazine. I was intrigued and opened it up. The first article I saw was titled, "Are you Out There...what to do when you are the first patient." The article recommended blogging since genetic and research labs don't readily share information. Our doctor is publishing the results but that takes forever to go through. Once published it will show up in other genetic labs.<br />Right now, we are doing symptom management and looking for more answers. He has so many different doctors, including Physical Med and Rehab, and we have thought of also looking into some alternative therapies maybe diet related or whatever. <br />I wish you best of luck in your endeavors and any tips you can give me on this whole blogging thing is much appreciated.jllange79https://www.blogger.com/profile/01495629894358900295noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-64843578407476046002016-01-19T02:08:43.653-08:002016-01-19T02:08:43.653-08:00I forgot to mention, my daughter was treated for a...I forgot to mention, my daughter was treated for a wide variety of medical "schtuff" for 19 years prior to diagnosis, including simple partial seizures. She wasn't having seizures, she was suffering neurological damage from the ammonia and glutamine levels in her brain. Once we were able to start treating her, she is a whole new person. Leah Springhttps://www.blogger.com/profile/02326240393099112570noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-26145024791753284522016-01-19T02:06:23.194-08:002016-01-19T02:06:23.194-08:00What a beautiful boy you have! We have an Asher to...What a beautiful boy you have! We have an Asher too. ;-) Well, the good thing is they found the spelling error. Now, what to do with it? We haven't found my daughter's spelling error yet. She has all the symptoms of OTC Deficiency, but she doesn't have any of the common variants. We treat the symptoms and not worry quite so much about where the error is happening. For now, anyway. Have they checked his ammonia levels? There are scavenger drugs that can be given to clean up the blood and remove some of the toxins. My daughter is currently in the intensive care unit having that done. She is on Ammunol. I don't know enough to know if there are other similar types of scavenger drugs. Please feel free to find me on Facebook ( Leah Spring) or via my blog www.gardenofeagan.blogspot.com Leah Springhttps://www.blogger.com/profile/02326240393099112570noreply@blogger.comtag:blogger.com,1999:blog-3848657658139692335.post-23691035406395062642016-01-18T18:55:52.927-08:002016-01-18T18:55:52.927-08:00I cannot even fathom what you are going through an...I cannot even fathom what you are going through and i hope you get the answers you need. I read about the seizures and thought how the Ketogenic Diet has helped kids with Epilepsy. ..so maybe you want to try that while looking for answers.<br /><br />Also, interesting scientist that you may read up on and may even ask questions directly to: Stephanie Senneff. Doctors that have good info about diet: Steve Phinney and Jeff Volek.<br /><br />I hope your son finds quality in health and life.<br />VBIREhttps://www.blogger.com/profile/08347428057923447869noreply@blogger.com