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BriMom 07-11-2014 10:57 AM

Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hello,
I was amazed to read a post and I see it was from 2010 on down syndrome and H.E. (Hashimoto's Encephalopathy). My daughter began going through many different Neurological disorders about a year ago and she has been treated only with antidepressant, tranquilizer and anti-psychotic medications to no avail. I am having such a difficult time trying to get a valid diagnosis for her but I would like very much to get these tests done for her at a center where they understand Down syndrome and encephalitic symptoms. Because she has Down syndrome and partly because the doctors that she see's for her condition now, do-not know how she was before. So they can't relate to HE.


I would very much appreciate a response on this message board.
My name is Maryann.

Thank you sincerely for any information on this that anyone may be able to tell me about.

Clyde1 07-11-2014 08:26 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Have your daughter's anti-thyroid peroxidase antibodies levels been tested? That is usually the first test that is done, and then the enolase antibodies. In HE, these antibodies are elevated. To confirm, a lumbar puncture to test for elevated protein is sometimes done. My daughter was tested last year, and her's were both elevated. Three drs., primary care, rheumatologist, and a neuro, agreed that her tests along with her myoclonus, right side partial paralysis, etc..were clinical symptoms of HE, and that a lumbar puncture should be done to confirm HE. Unfortunately, the head of the neurology dept. at the major medical center where we took her hoping to receive treatment, would not allow the dr., a neuro, who is interested in HE to treat her, and who had been recommended to us by a top neurologist who specializes in epilepsy (which our daughter does not have). She developed myoclonus due to the auto-immune disorder. The head dr. did not, obviously, want this old girl with DS in his clinic. (She is 47.)He could not say that, of course, but what he did was pull the neurologist the neuro who has experience with HE, and who had already expressed that he wanted to treat her, off her case, insert himself, and then give her the bum's rush. He actually said: "She has auto-immune disorder; I don't know what. There is no need to bring her back, unless the primary insists." I could not get her away from him fast enough. Any doctor who so obviously does not want to treat a patient with an illness in his specialty can do more harm than good. It is difficult to find treatment for HE in general, and when it is any auto-immune illness in a person with DS, it is practically impossible. There is a lot of information on the NIH website on HE. ( My username is Clyde1, which suggests a man. I am a mother, whose name was already in use, so I went with a male relative's name.)Sorry this is long. Let's stay in touch.

BriMom 07-12-2014 02:42 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hi. Thank you for explaining this to me. It is very valuable information and so important to us. Can't thank you enough! My daughter never had any neurological testing done at all except for a cat scan in the ER when this initially occurred last September. The ER said she was fine medically and released her and since she is developmentally disabled, the state of NJ sent an APN to us for psychiatric evaluation. We were then giving her different meds and told that she needed to be on them for a while to see any results. I can't explain all of the cognitive decreases since then because it is all negative and she never was diagnosed with anything. They think maybe she's depressed or maybe she's schizophrenic or maybe bipolar or maybe epileptic but none of the medications helped. Everything made her worse off.
I will try to get these tests done. I hope to get in touch with someone in neuroscience at the hospital near here that will schedule these tests ( easier said than done).
I hope your daughter was able to get a proper diagnosis and treatment. I will let you know what happens.

Clyde1 07-12-2014 07:14 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
You are from N.J., that is not so far from Johns Hopkins in Baltimore. I would consider taking her to Johns Hopkins, the Kennedy Krieger Institute. They have seen HE. Do a web search on Encephalopathy and Down Syndrome. There is an article on the web written by Dr. Brian Chicoine, who founded the Lutheran General DS Clinic, the oldest adult DS clinic in the US, about HE, in which he references two case studies on women with DS, who were found to have HE, the case studies were presented by a Dr. Amy Brodtman (sp?). She may not have HE, but it sounds as if she has something serious going on.
Has your daughter ever had heart issues? A young man who grew up with my daughter began having neuro symptoms and was diagnosed with a smorgasboard of illnesses, schizophrenia being one. A couple of years after his odd symptoms began, he dropped dead from a heart attack. He had never had heart issues, so the doctors who were trying to figure out what his problems were failed to check his heart. His mother said that he had a sub-aortic stenosis in which the blood from his left ventricle could not pass into his aortic valve. His neuro symtoms were due to not getting enough oxygen to his brain, due to the blockage from the stenosis. Oddly, my daughter had had surgery for that very illness 8 years before this child died. She was born with holes in her heart, and had OH surgery at age 6, and again for the SAS at age 28.. Things get overlooked . Your post touched my heart. Every person with DS is at risk, not only because of their DS, but because they can have the exact same illnesses the general population has, and, yet, the first thing 99% of the medical profession sees is their Down syndrome and then it is so convenient to blame their DS for everything, instead of trying to learn what is wrong with them. There is great disparity in medical treatment for developmentally delayed persons and the general population. Let's stay in touch.

BriMom 07-14-2014 05:24 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hi
Yes I am going to have to try the Kennedy Krieger institute. I am not getting anywhere here in NJ. It's impossible to even get the tests done to even check these things out here. And in the meantime she's not getting treated and getting worse.
My daughter also had open heart surgery as a baby. She had a follow up appointment a few months ago. I didn't know about the heart issues that you mentioned to me about though so I will have to follow up. I know that a fee months ago they did a thorough follow up with the EKG and echo testing. They knew she was having cognitive problems at the time of her appointment. I'm just trying to get the thyroid blood work done for the antibodies and having a very difficult time. So I am going to have to probably call for an appointment in Baltimore if no one gets back to me up here.

Clyde1 07-15-2014 08:21 AM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
[QUOTE=BriMom;5304379]Hi
Yes I am going to have to try the Kennedy Krieger institute. I am not getting anywhere here in NJ. It's impossible to even get the tests done to even check these things out here. And in the meantime she's not getting treated and getting worse.
My daughter also had open heart surgery as a baby. She had a follow up appointment a few months ago. I didn't know about the heart issues that you mentioned to me about though so I will have to follow up. I know that a fee months ago they did a thorough follow up with the EKG and echo testing. They knew she was having cognitive problems at the time of her appointment. I'm just trying to get the thyroid blood work done for the antibodies and having a very difficult time. So I am going to have to probably call for an appointment in Baltimore if no one gets back to me up here.[/QUOTE]

Great that they did an Echo; that is how they found the Sub-aortic stenosis in my daughter. So it appears that you can check that off your 'worry list.' I would hope that you will follow up on the thyroid antibodies tests. Has your daughter had EEG? How is your daughter's balance? Does she have any involuntary movement, i.e. Jerks or seizures? How is her speech, as compared to before symptoms began? The 3rd Chromosone on the 21st pair has on it genes that cause our children to be born with 30% more GABA in their brains, so we have to monitor the ingredients in any meds that are prescribed for them. They do not need more GABA action in their brains, they already have too much. That is the reason their mental processing is slower than our's. They can accomplish as much as you, me, anyone, but it takes them longer because they are just naturally over-sedated, slow. We all have GABA in our brains, it is our natural tranquilizer. (One caveat: In the event of a seizure, they are given benzodiazepine to stop the seizure, which is perfectly permissible and needed.) But they should not be given benzodiazepine, which increases GABA action in the brain, on a regular daily schedule. (Caution: when a person has taken a benzodiazepine for more than several days, they must be withdrawn slowly, or the abrupt sessation may provoke seizure activity.) Many drs., nurse practitioners do not know this as they do not have, or take, the time to read current research reports. (I am not a medical professional. I am a mother, a mother who has watched her daughter suffer needlessly, due often to doctor prescribed medication that she should never have been given. I, like parents everywhere, have, to a certain extent, to depend on and trust that doctors will know the appropriate treatment. I have learned that it is my parent responsibility to always double check what is being prescribed for her. Doctors want to help them, but they have had little if any Down syndrome-specific training/education in medical school. In their practices, they may see 3 or 4 over their entire years of practice; not enough to accumulate a lot of experience. This is the reason it is best when close to a major medical center to take them there. Kennedy-Krieger at Johns Hopkins sees patients with DS from all over the world.

BriMom 07-16-2014 06:25 AM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hello
I have read a little about GABA and Trisomy 21, and about the testing of a new drug that is in trial and accepting applicants for the study. I also have noticed how a lot of tranquilizer meds increase GABA and I have tried to see which we're GABA Antagonists. And which were agonist but it is very difficult to understand and especially when my daughter has been prescribe Ativan and Benzo medications as well as anti depressants and antipsychotics. All of these meds didn't help her. I am really going crazy trying to get the auto immune encephalopathy tests done in an urgent way which is so unbelievable. I have blood work scheduled for Friday and still don't have a precert for the Brain MRI so no appt. and my follow to actually get back to the neurologist to read these tests isn't until August 28th so in the meantime everyday my daughter is continuously worsening. I just tried calling Kennedy Krieger but I only got the voicemail and I left a voice message and email hoping that someone will get back to me from there, it's so very disheartening. I can't believe how broken the US Health care system is.

BriMom 07-16-2014 06:26 AM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hello
I have read a little about GABA and Trisomy 21, and about the testing of a new drug that is in trial and accepting applicants for the study. I also have noticed how a lot of tranquilizer meds increase GABA and I have tried to see which we're GABA Antagonists. And which were agonist but it is very difficult to understand and especially when my daughter has been prescribe Ativan and Benzo medications as well as anti depressants and antipsychotics. All of these meds didn't help her. I am really going crazy trying to get the auto immune encephalopathy tests done in an urgent way which is so unbelievable. I have blood work scheduled for Friday and still don't have a precert for the Brain MRI so no appt. and my follow to actually get back to the neurologist to read these tests isn't until August 28th so in the meantime everyday my daughter is continuously worsening. I just tried calling Kennedy Krieger but I only got the voicemail and I left a voice message and email hoping that someone will get back to me from there, it's so very disheartening. I can't believe how broken the US Health care system is.

Clyde1 07-16-2014 10:36 AM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Prior to learning that what she has is an auto-immune disorder, I often wished that our daughter could have MRI, unfortunately, she has the pacemaker, as well as the metal clamps that were used in 96 to close her sternum after she had open-heart surgery. So, no MRI's for her. Trying to get appropriate treatment always seems so slow. It is confusing, understanding about the chemical make-up and how the T21 extra gene impacts so many things for our children that would not be a second thought for others.

BriMom 08-05-2014 08:30 AM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Thanks Clyde1 for your post last month. I wasn' able to get her to Kennedy Krieger becuase of age restrictions but I did get her an appointment at the University of Pennsyvania Neurology clinic and we have scheduled some ess. Everything takes so long and I'm seriously concerned about her condition. I'm hoping and praying we can ge some help at UPenn for her. How long overall did it take you to get your daughter diagnosed for this condition?

Clyde1 08-06-2014 05:02 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hi BriMom, you are taking your daughter to the very best Neurology Clinic to learn if what she has is Hashimotos Enscephalopathy. Overall, it took 5 years for us to learn that she has HE. The problem we ran into and which all parents of persons with DS are familiar with is that when something unusual occurs with our children's health it is always "it's his/her Down Syndrome." They literally cannot see past the DS; they have a problem understanding that our children can have the exact same illnesses as the general population. I also suspect that our childrens' DS provides the medical profession as 'easy out.' When they do not have a clue what is medically wrong with a person with DS, they take the easy out and say "well, anything might happen, with her/him having that Ds. My daughter is a little better, but not due to any medication other that Keppra, which was given to try to stop the extreme myoclonus that looked like a t/c seizure. The Keppra appears to be working. She never had even a tremor prior to the auto-immune disorder showing up. Please stay in touch. I am looking forward to hearing what you learn at UPenn.

Clyde1 08-23-2014 06:18 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
BriMom: Did you learn anything about your daughter's symptoms at Penn? The good news is that Penn has actually started an auto-immune-specific clinic. I recommend a book that has patient stories about HE: "Understanding Hashimotos Encephalopathy." This book was written by HE patients. Staight from the horses mouths, so to speak, it is a wonderfully informative book. Some of the stories, especially the ones involving children who have this monster illness, are heartbreaking. But it is more that well worth reading.

BriMom 08-23-2014 11:37 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Thank you. I will look for the book, it sounds interesting. I have nothing nee i can tell you. Unfortunately I am having extreme difficulty getting the CSF lumbar puncture appointment set up at the hospital at the University of Penn. Last week the resident was unable to get the fluid because she had spinal surgery and I think the scarring and metal rods got in the way for him and now I seem to be having so many problems trying to get a lumbar puncture with fluoroscopy done. It's so very frustrating.

Clyde1 08-26-2014 05:07 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Oh my! I am sorry that you are having so many problems getting your daughter's lumbar puncture. Have you already had an appt. at Penn? I am looking forward to hearing what you learn there. Everything that I have read about Penn has been positive. Did your daughter's primary care doctor order the lumbar punctures, or did the drs. at Penn ask for them? Usually, when something is posted, I see something in my e-mail. I didnt this time. Thank you for updating me. All good wishes.

BriMom 08-27-2014 05:56 AM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hi. There has been a lot of confusion going on. I'm really upset but trying to get these tests done so she can get therapy. So far nobody is doing nothing. The primary care doctor didn't understand and I had to give her an article on the subject. She did not give me a referral. I went there on my own in July. It's now the end of Sugust and no testing as of yet but I am keeping my fingers crossed for tomorrow morning. I know it has to do with the fact that the Down Syndrome marks her. its a calling card that leads to immediate profiles that shadow judgement even at UPenn. I will let you know.

Clyde1 08-29-2014 09:16 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
It has been our experience that Drs. cannot get past the DS, cannot understand that persons with DS can have the exact same illnesses that persons have in the general population, even their primary care doctors. For 5 years, I kept hoping that our daughter's primary care would come up with something. Not! Every test, every 'specialist' we saw was at our request, even the atp test that led to the diagnosis. I believe that most people perceive their primary care drs. to be a team leader, to know who to refer their patients to when an out of the ordinary illness strikes them. Sadly, too few primary care Drs. view their roll in this way. They really should be, though. Thanks for keeping me updated. I pray that your daughter will benefit from going to upenn. Look forward to next update. Thanks

BriMom 09-22-2014 08:34 AM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hello! Just reporting back that our daughter had several tests done at the Hospital at University of Pennsylvania and we are waiting on results. She also had treatment for auto-immune disease. Seems o be doing better which is a step in the right direction. hanks for your information that you sent to me over the past several months. It was very informative. Much appreciated.

Clyde1 10-07-2014 07:01 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
[QUOTE=BriMom;5318150]Hello! Just reporting back that our daughter had several tests done at the Hospital at University of Pennsylvania and we are waiting on results. She also had treatment for auto-immune disease. Seems o be doing better which is a step in the right direction. hanks for your information that you sent to me over the past several months. It was very informative. Much appreciated.[/QUOTE]

Thank you so much for updating on your daughter's experience at University of Penn.. If you don't mind sharing, what was the treatment for auto-immune disease? I hope that what I wrote was of some help. I have come to believe that we, parents, learn more from one another's experiences than from the medical profession. I believe that Doctors would like to help, but individually they are limited due to not having enough experience with persons with DS. We are all still groping in the dark because it has been only in recent years that the DS population has begun to live long enough to provide a history of ailments that they develop as they age. This particular auto-immune disorder strikes children also, but does appear from what I have read to impact the DS population most often from their twenties upward. Please stay in touch. I just this evening saw this post from you. The notices are not showing up in my e-mail as they did earlier. All best wishes and prayers for your daughter.

ana2001 10-15-2014 03:48 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hello I am new to the discussion thread and I am in need of seeking help and advice from mothers with Down Syndrome Children diagnosed with Hashimoto Encephalitis. My sister who is 13 years old was diagnosed with Hashimoto Encephalitis 7 months ago. She suffers mostly with hallucinations due to this illness. It has been a very rough, challenging, and heartbroken process in finding the right treatment for. Her neurologist and rheumatologist have given her several treatments for example: intravenous steroids and IVIG every three weeks in which we see no improvements, she has also received a dose of Rituximab which is an immunosuppressant and as well see very minimal progress with her symptoms due to Hashimoto. I would appreciate a response in how your child is being treated and as well their progress. I am also seeking advice in what hospital or doctor have they treated or have experience with Hashimoto Encephalitis in DS children. Her developmental pediatrician in the Down Syndrome Clinic here at Houston basically told us that my sister is the only child with DS diagnosed with Hashimoto Encephalitis here at Houston. I would appreciate a response and you are all in my prayers.

Clyde1 10-16-2014 03:33 PM

Re: Down Syndrome and H.E. (Hashimoto's Encephalopathy)
 
Hashimoto's Encephalopathy is underdiagnosed in the general and in the Down syndrome population. It is only recently that it has been sanctioned an actual disorder by the National Institute of Health (NIH). The treatments you have listed which have been administered to your child with DS are all that I have knowledge of being given to any HE patient. There may be more, but I have not heard of them. Have you asked her neurologist and rheum. how long before good results are seen? I am not surprised that your child is the only person with DS to have been diagnosed with HE, even in a large metropolitan area such as Houston. To begin with, it is underdiagnosed due simply to the medical profession not recognizing it. If the word fortunate can be applied here, you are fortunate that you have a diagnosis. Myoclonus, right side partial paralysis, confusion, memory issues, etc.. The list of symptoms is long and not everyone has the exact same symptoms. My daughter had symptoms for 5 years before we got even a half-way diagnosis, then only that she has an auto-immune disorder. If you have read the other posts between me and Bri-Mom then you know what I was told by the head of the neurology dept. at a major medical center concerning treatment for my child. They simply did not want to mess with her, I believe because at age 47, she is considered 'an old girl with DS." Sad, but true. My belief is that they just do not know what to do for our children. I wish I could tell you something that would be helpful, but it sounds like your child is receiving about as good as there is to get for this monster disorder. Please continue to post reports of your child's treatment, and, hopefully, progress toward healing.


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