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lesiu
@lesiu

Posts: 5
Joined: Aug 12, 2016

Myelination process and my daughter

Posted by @lesiu, Aug 18, 2016

I have 21-month daughter who is diagnosed to have autoimmune encephalitis. This diagnosis is probably invalid, but it was made by well known in Poland neurologist. First MRI was done in november, second one yesterday. No changes in comparison to first MRI. Myelin still at 6 month old level (no progress). My daughter doesn’t progress and she has had huge hipertonia for more than 9 months. In Poland my daughter got (till now 3 times) steroids (solumedrol) and immune globulines (Ig Vena), but as I said, no progress. She doesn’t sit, she doesn’t crawl, she doesn’t speak, she has hipertonia/spasticity in limbs, hipotonia in neck and spine, she doesn’t have control in her arms and hands, she can’t hold toys or crisps.

My daughter had an examination by blood on 14.03.2016 and all types of autoimmune encephalitis (NMDA, AMPA1, AMPA2, CASPR2, LGI1, GABARB1/B2) are negative.

She started to regress about a year ago. At first she had an average hipertonia, then she starded to loose her capabilities like holding and eating crisps, so we decided to go to neurologist. The doctor acknowledged, that there was something bad going on with our daughter. In hospital we have done EEG and MRI. EEG was fine, but MRI was not. In digest the myelination stopped at the age of 6 months. There are also some calcifications.

We had a lot of blood examinations and CSF analysis too. It didn’t exhibit anything besides high level of neopterin (134,7). They performed neural autoantibody testing. They didn’t exhibit anything.

My daughter doesn’t have epileptic seizures. For now. Thank God.

Physicians also want to take my daughter’s blood for DNA tests. They started to doubt if she really has autoimmune encephalitis. Or they suspect that there is something more than autoimmune encephalitis, some genetic disease. Yesterday I asked a physician why they did NMDA and other antibodies tests by serum, not by CSF and she said that this is better way. Very strange. BTW, keep in mind that all these tests (by serum) were negative. My daughter Liliana was diagnosed autoimmune encephalitis by neurotransmitter (neopterin with a value of 134,7), ANA, ANCA, MRI (myelination process stopped at the age of 6 months) and clinical picture. So is the diagnosis certain? I’m not sure. Now we are back in starting point, like in november, but Liliana is 9 months older.

What would it take to diagnose her? We need complex diagnosis, because definitely Liliana has some kind of neurological/genetic (with neurological symptoms) disease. Do you know approximate costs of that complex diagnosis? More less.

I can translate medical summary/examinations results and post it here if someone is interested.

Help, please. We don’t know where to search for help.

One more thing, should we think about transplanting stem cells for myelination purposes? How much does it costs? Where should we search for it?

REPLY

@lesiu I’m so sorry to hear of your daughter’s health issues. I’m sure this must be very frustrating and difficult to not be able to get any answers or a treatment plan. While I have no experience with this type of problem, I am hopeful that someone on Mayo Connect will be able to respond to your query. Best wishes to you and your daughter. I hope that you get the answers that you need.

Recognition for now: pyramidal-extrapyramidal system, myelination delay and abnormal immune reaction. Chronic seborrhea. Child still under diagnosis.

Sorry for bad translation. I did what I could.

@lesiu

Recognition for now: pyramidal-extrapyramidal system, myelination delay and abnormal immune reaction. Chronic seborrhea. Child still under diagnosis.

Sorry for bad translation. I did what I could.

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@lesiu You are doing wonderful explaining your problem, which is certainly very complex. Please keep in touch with Mayo Connect, I am hopeful that someone in our community will be able to give you some guidance for your child’s problem.

Witamy @lesiu.
Mayo Clinic Connect is an online community where you can share your experiences and find support from other parents. If you would like to seek a professional second opinion about your daughter, please contact the Mayo Clinic international patients department here: http://www.mayoclinic.org/departments-centers/international/appointments They can help answer your questions about diagnosis, encephilitis, stem cell transplantation for myelination, costs and options available at Mayo Clinic.

In the meantime, I would like to introduce you to other parents here on Connect. Please meet @lparr00 and @a44901324 who each have children with Encephilitis (https://connect.mayoclinic.org/discussion/rasmussens-encephilitis/). Also, please meet @fernandavidigal and @jennsprung who know what is like to have a child with a rare genetic diagnosis, and understand the journey you are on.

Lesiu, your English is impeccable. We look forward to getting to know more about you and Liliana, and providing support where we can.

Thank you ladies. My sister, who is a translator comes back from holidays on Sunday, so after Sunday I will post some more information (history from the start) about my daughter’s disease.

@colleenyoung, I suspect my daughter Liliana doesn’t have autoimmune encephalitis, it was probably an invalid diagnosis and we have treated her for something she doesn’t have for 5 months.

Now we are searching for help outside Poland – in Germany, Netherlands, United States. A week ago, when I was looking for autoimmune encephalitis experts I found Barcelona group with Doctor Dalmau. It was a good lead, but for different disease. Now we are beginning from the start. I will appreciate any help.

Lesiu, a translated version your daughter’s medical history and diagnosis will be particularly helpful for when you contact Mayo Clinic for a professional opinion http://www.mayoclinic.org/departments-centers/international/appointments It must be so grueling to search for a diagnosis, and finding few answers.

I will definitely contact Mayo Clinic for a professional opinion. I can even fly to US if this helps. I know that clinical picture is also very important so not everything can be done remotely.

I know its MAYO Connect, but maybe you know other places in US, where I could search for help? Or maybe Mayo is the best place to search for help? I know so little about medical care in US.

While Connect is operated by Mayo Clinic, recommendations to other care institutions is permitted. It is important that you find the best specialist for your daughter. I would like to hear from @lparr00 @a44901324 @fernandavidigal and @jennsprung with respect to finding a specialist team and care center.

@lesiu

I will definitely contact Mayo Clinic for a professional opinion. I can even fly to US if this helps. I know that clinical picture is also very important so not everything can be done remotely.

I know its MAYO Connect, but maybe you know other places in US, where I could search for help? Or maybe Mayo is the best place to search for help? I know so little about medical care in US.

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Mayo Clinic is a fantastic place to start!
The most difficult part is of course all of the waiting you have to do when you are trying to find a diagnosis during the early years. I think this is because there is no true “timetable” of development. We know the average time that certain milestones are supposed to occur. But this is never written in stone- a child that hasn’t hit a specific milestone (like standing) by a certain point will most likely have difficulty reaching their next milestone (like walking) within the average age range. Many children have uneven developmental profiles- language skills may be quite advanced, but fine and gross motor skills may be behind. This adds to your frustration most certainly because you want to know the reason WHY, and also makes diagnosis take a little longer. But this time is important! You need a proper diagnosis. You don’t want somebody to jump to conclusions.
Finding the right clinician is definitely important. I look for someone that works well with my child. I look for someone that is open minded and easy to talk to. I don’t want to be rushed out of the office before I have had a chance to tell the whole story. I also need someone that has the patience to explain their findings and tell me the next steps. I also want to know that I can go back to them if needed over the course of my child’s life. In our journey we have had a mix of clinicians. Some have been fabulous and some have been less so. I like the ones that take the time to answer my questions, or if they can’t, direct me to someone who can.
To borrow the words of a friend, “A mother may not always be right, but they are rarely ever wrong.” If you feel that you have not yet received the right diagnosis, it is important to keep pursuing it. 🙂
My son has hypomyelonation in certain areas of the brain. It is believed to be part of his genetic anomaly, although he is pretty rare. No one else has the exact same genetic blip so we don’t know for sure. For him, the comparative MRI’s done about 2 years apart showed no change. This is a potentially upsetting result for many but we embraced it. We may not have “fixed” it but he continues to grow and develop and that makes it less frightening. It may also mean that the pattern of hypomyelonation that he has is not a bad one.
I wish you much luck on your journey. Should you ever need to chat don’t hesitate to contact me. Mama’s need all the support they can get!

Xoxo

Keep us posted!

So sorry that your family is going through this. You asked about other resources in the US and outside. I wanted to pass along :

– Global Genes website (https://globalgenes.org)
– Genetic and Rare Diseases Information Center (GARD) from NIH here in the states (https://rarediseases.info.nih.gov/diseases/browse-by-first-letter/m)
– National Organization for Rare Disorders (NORD) (http://rarediseases.org/)
– EURORDIS (http://www.eurordis.org/).

I hope these are of help to you and your family in some measure.
-Melody

@caretothepeople

So sorry that your family is going through this. You asked about other resources in the US and outside. I wanted to pass along :

– Global Genes website (https://globalgenes.org)
– Genetic and Rare Diseases Information Center (GARD) from NIH here in the states (https://rarediseases.info.nih.gov/diseases/browse-by-first-letter/m)
– National Organization for Rare Disorders (NORD) (http://rarediseases.org/)
– EURORDIS (http://www.eurordis.org/).

I hope these are of help to you and your family in some measure.
-Melody

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I have very bad news. Dutch physicians suspect Aicardi Goutieres syndrome. We have to do genetic WES tests to confirm or deny. It will take 3 months.

Does anybody know if somewhere there they try to treat this cruel disease?

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