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from a mother, Muscle Eye Brain Disease, a rare form of MD. (Page 1)

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Hello! My youngest son is 17 months old and was diagnosed a few months ago with Muscle Eye Brain Disease, a rare form of MD. I have searched the internet for anyone who also has this form of MD with no luck. Even his doctors had very little info to give me on this rare disease.

While the diagnosis is new and we still are in the process of seeing multiple specialists, my concern right now is for his sleeping habits. He went from a baby who slept through the night at about 3 weeks old, and now he wakes up every two hours. This started about 3 months ago. My husband and I cant remember when either of us got more than an hour and a half of sleep at a time.

As a 3rd time parent I am at a loss of what to do.He doesn't seem to soothe himself back to sleep and because he does not have much arm use, he cannot hold his bottle on his own. Does anyone have any suggestions, or has gone through the same issues as a parent?
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First Helper AGLI
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replied April 20th, 2012
Muscle, Eye, Brain disease
I have a 1 year old granddaughter with MEB. We all(3 generations) live together so I know what its like. Last night her brother woke her with his crying. She'd been asleep 15 mins. After she wakes its real hard to get her back to sleep. We wound up having to let tire herself. She takes a pacifier so at night when she wakes we can put it in her mouth and she will go back to sleep as long as there is no other problem. Would like to talk to you more.
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replied April 26th, 2012
That sounds like our house! He sleeps through the loud sounds, but for some reason he wakes up at the quiet noises. Since I posted we have had an EEG done and found out he has "seizure-like" activity in his brain when asleep. We were reffered to a neurologist but are still waiting for our appointment. He has also gone to an ENT and we were told he has large tonsils and adenoids which may be causing sleep apnea. We are awaiting a sleep study which can take up to 3 months to get in. So he is still waking every couple hours. He has problems sucking/swallowing so he can't have a pacifier. I have been sleeping on the couch for 2 months! When he wakes up so often it is pointless to put him in a crib and for me to sleep in my bed!
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replied June 21st, 2012
Alicia,
I'd like to talk some more.
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replied April 27th, 2012
I sent an email basically saying we had a child with MEB. Not sure what site it went to but glad you are getting answers at a young age. start physical therapy early to help muscle tone. cries will be distinctive like all babies, cries for hunger, cries for being tired. You will do great as I can tell you are a mom that cares. I kept devin in a rocky baby chair and kept him slightly moving to help him sleep longer. try an automatic swing as they have those now back 25 years ago not so popular!!
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replied April 27th, 2012
Not sure if my email went through so thought to reply with the basics of it here for you and the other family to see. Devin was diagnosed in 1996 with MEB at the age of 9. They had no research then to know what was wrong and through a muscle specimen was able to list him as one of the first diagnosed cases at the Univerity of Iowa with MEB. Muscle tone is low so start early with physical therapy and dont let anyone tell you your child CANT because you need to believe that they CAN do things. Mental and physical disabilities are strong as well as vision problems. we are here if you want to chat or anything. We lost our son in 1998 just 2 short years after finding out what was wrong with him he passed in an unexpected surgery for 2 stitches in his tongue. ask us anything and we will try to give you answers as one parent to another.
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replied June 17th, 2012
M.E.B.
It's been awhile since my last post. My granddaughter, Willow, was recently seen by an ophthamologist at Children's hosp. We found out she has no deformity of the eyes other than being severely near sighted (-20)and one eye is larger than the other. Now she will get some glasses and we pray for the best. She also has cortical vision impairment from the hydrocephalis she was born with. She got a shunt in immediately after she was born. Along with OT for her CMD she has a vision therapist to work with her vision. Willow is a beautiful, sweet 15 month old girl who's smile and laughter can warm our hearts. Aliciamarie3 and EileenS1986, thank you. Let's talk some more and anyone else touched by MEB.
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replied July 31st, 2012
My boy is 7 years old and he has also MEB. I google the diagnosis a few times each year to see if there are anyone ele out there. And this time it was!

The nights have been very difficult for us, but they are better now. I suggest the following three areas to look into for better nights.
1. Medications for Epilepsy, if diagnosed. You sleep very lightly if you are not properly medicated for your Epilepsy. You mentioned seizures above.
2. Night lights. Our son is afraid of the darkness, and when he was three years, we found out that he needs well lit rooms to see at all. A badly lit room is completely dark to him (he is also very near sighted -15). An ordinary night lamp is not good enough.
3. Reduce the amount of activities during the day and only let the child meet some few well known people. We have stopped taking our son to family celebrations and big christmas events. It was simply not worth two weeks of extra bad sleep.

Our son woke up over 10 times each night before we worked with the above three areas. We gave him sleeping drugs, but they did not do it for him. What worked for him, may not work for you. All children ar unique.

We also have a special mattress and use pillows to support his body in a comfortable position. Currently we only have to get up and turn him over a few times each night, which is acceptable compared to his early years. We also lets him listen to his favourite music in his bed from 05 when he wakes up for the day.

Aliciamarie3, Eileen1986 and Grams55 - lets continue this conversation.
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replied August 1st, 2012
Hi AEJB!
What special mattress do you have? My 16 month old granddaughter, Willow, used to wake several times a night. We took her out of the crib and put her on a soft bed. Since she can't turn over it's okay, we just don't lay her on her stomach. She now only wakes up 1 maybe 2 times a night. We keep the room somewhat dark with white noise (fan). When she is teething, ibuprophen (per Dr. recommendation) helps. Since she's only had 2 serious siezures we don't give her meds.
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replied August 8th, 2012
It sounds like you have done what you can for her. We have a home version of a hospital bed with a pressure reducing mattress that came with it. Check your inbox, I have sent a private message to you.
Best regards
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replied August 3rd, 2012
I have a question for those whose Congenital Muscular Dystrophy child is older. How do you pick up/ physically manage your older (heavier) child? Willow is 16 months old and 27 lbs. My concern is how am I and her parents going to care for her when she is older.
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replied August 6th, 2012
Start pulling weights to train arms, back and belly! Wink

The lifts are very heavy because our children cannot help with their bodies. I use to tell people to lift a big bag of dog food or cat litter to compare our lifts with lifting a healthy child with the same "weight".

We have a mobile lift that I use. My husband still lifts manually. We never carry our son around. The lifts are up to his wheelchair, down to the floor or from the wheelchair to his bed.

I got problems with my back as early as when my son was a baby. This was because I used to turn my spine sideways. It is important to take some steps if you need to turn or move with your load.
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replied December 15th, 2012
MEB
Hello,

I have a daughter 13 months old, and we are currently waiting for the results for MEB. The only thing the doctors are sure and they sow on the MRI that she has licensifaly type 2. Were any of your children diagnoses whit that brain formation? my girl sleeps very well, we wake up only to turn her on the other side once or twice per night. as her condition, well she at the age of 13 months goes on her tummy for her back, and she holds her head with our support or support from a spacial chair. she does not sit for her self, she does not crawl, she cant drink or eat by her self. My questions to you are: do your older children hold their heads by they self? Do they speak at all - simple words or sentences? Do you know any good literature or web site where can I get more useful informations? Tnx for now, if you have any question for me, please do not hesitate to ask. Sorry for my english. hope to hear from you
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replied January 10th, 2013
Hi
Yes, my boy also has licensifaly. He started to hold his head when he was about a year old after he had surgery for Hydrocefalus. Sit by himself when he was about two. There is no spoken language. My boy communicates with sounds, body language and a GoTalk-machine.

Information

Office of rare diseases http://rarediseases.info.nih.gov/GARD/Cond ition/156/Muscle_eye_brain_disease.aspx

the OMIM database
http://omim.org/entry/253280

Counsyl - I'm not so sure about what kind of place this is, but I dump this on people that don't take our situation seriously
https://www.counsyl.com/diseases/muscle-ey e-brain-disease/
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replied December 15th, 2012
MEB Desease
Hi there
My middle child (aged 3 years) suffers from MEB DESEASE. When my son was born I was not aware that anything was wrong with him. My scans showed all normal during pregnancy. He would not take his milk easily, it took him ages to swallow, and then he would throw up, it was like that with all his feeds, he started to lose weight, CT Scans and MRI Scan showed abnormalities. He has never lifted his head on his own, rolled or had much movement in his body, he is highly floppy, he is partially blind, his eyes are normal but he does not get signal from the brain. He responds to lights, but cannot focus. He cannot talk properly, he babbles and has significant development delay. He recognises voices, enjoys when we sing nursery rhymes to him. He is a sweet and calm child. He does not like loud noise he gets scared if we talk loudly across the room or from another floor. He cries when he has a dirty nappy or if anything else is troubling him, its a guessing game, is it his teeth? as he is still teething all his teeth have not appeared fully, does he have an ear ache etc. He is NG Fed milk, he stopped having pureed food when he was 2 year old as he had a chest infection, since then his swallowing had further weakened. We suction him, with a suction machined trained by hospital specialist as he cannot clear his coughs, he catches viruses quickly, so he does not socialise with big crowds and weddings/events etc, if he is unwell no visitors at home, or vice versa if visitor not well then we ban them from coming until its safely cleared. We turn him regularly during night and day, as he gets tired on one side if left for too long, also we nappy change him, during the night. He has antibiotics daily to keep his chest infections in control and reflux medication with his milk, and he gets constipated so we have medication for that. We carry out physio exercises twice a day and position him in his wheelchair, home specialised chair and on sofa during the day. Manual handling has become a mission now we have been referred for a through the floor lift and ceiling tract hoist now so that manual handling is avoided to reduce the risk to both our child and us who carry him up and down the stairs. He sleeps on a specialised adjustable bed, with a bed sore relief mattress.
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replied December 18th, 2012
Hi I am a parent of a three year old child with MEB. I had her late at 37 years and after delivering her normally she breathed after about 5 minutes. On her 3rd day she was found with jaundice but it wasnt too high and was treated with light therapy. At about 2 months we found her eyes wasnt focussing and that begun our journey from opthamologist to neurologist to MRI and so on. Each delivering more and more devastating news until we found the prognosis of MEB at about 2 years. She gained her neck control at 9 months and begun to crawl at 2 years, we still continue with therapy. She cant talk yet just a few words that we try to understand. Other than modern medicine we have tried alternative therapy but the biggest gains have been in her diet. We dont give her diary products sugar or wheatand mostly feed her unprocessed foods like sweet potatoes and pumpkin and lots of fish and spinach for her eyes. We also refuse to focus on what she cant do and work on what she can, we have stopped believing negative predictions and try to keep a positive mind.
My biggest advise, DONT GIVE UP AND ACCEPT YOUR SITUATION. I strongly belive that something more can always be done and keep searching for it. Let us keep in touch and bolster each other. thanks
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replied January 15th, 2013
Hi, Though I cannot possibly relate to your positions, I can say that I devoted three years of my life towards finding therapies for MEB. MEB seems to result from POMGNT1 mutations. I've tested in excess of 50,000 compounds for efficacy against this disorder. Through Obama's stimulus, we were supported to the tune of 2 million in this endeavor. Sadly, the power players in this field aren't really that interested in actual drugs. They like their mouse models and cushy grants. I have drug candidates (even FDA approved drugs), sadly revealing them would result in numerous lawsuits directed towards me. My emphasis is simple, don't push these guys towards basic research. Ask for viable drug candidates.
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replied January 17th, 2013
Hi there,
I am new to this forum and I have a son with MEB who is now 9 years old, turning 10 this year. He was born blind. I see that its been a while since the last post so first of all I just want to check so people are still using this forum:). We live in Norway, but Im from Sweden. My husband is norwegian. It seems like sleeping, or not sleeping, is an issue for all of us. I always thought it had to do with his blindness, so weve been told but as it seems here it could have to to with the actual syndrome. Kind regards
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replied February 21st, 2013
Hi, I'm Italian and so English is a difficult for me. Please excuse me.
I was mother of a boy suffering MEB. He survived 17 years and flies away one night in November 2006. We known the name of his desease one month after the death, but this was important because we have a daughter, only immune carrier, maybe one day she'll be mother.
Lorenzo had big myopia,cataract to the left eye, doesn't speak but he understood what we told him. He had a weel chair but I carried him everywhere. Hydrocephalus from the birth and epilepsy started after 6 months.
At the end he was tall 144 cm and 25 kg "fat".
I can tell, to all of you, take care of your back and expecially take care of your "baby" so when will arrive that bad moment you can say:"I did all for him/her".
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replied February 25th, 2013
there is anyone who can tell me how many people in the world is suffering by muscle eye brain desease?
Thanks
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replied February 27th, 2013
My daughter was recently diagnosed with muscle eye brain disease just before she turned 3 years old. Before that she didn't have a very clear diagnosis, we knew that she has hydrocephalus and glaucoma in the right eye and they thought she had septo optic dysplasia. But nothing really explained her low muscle tone and why she couldn't hold her head up or sit up or roll over, etc. Then shortly after she turned 2 she started having seizures. It took us a while before we realized they were seizures because when she woke up from a nap she would be very startled and moving her head and arms around and appearing to be very frightened. So having the seizures opened the opportunity to get a new MRI done and more testing, and then a few months later we got this new diagnosis. It turns out that she doesn't have septo optic dysplasia (that was always just a guess) and the doctor we talked to told us that having hydrocephalus and glaucoma at the same time should have immediately led to the MEB diagnosis but the doctors we had seen must not have known that. We feel like now things make sense and that this diagnosis describes her better than anything we had been told before. I just wanted to introduce myself to this forum and share our story.
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replied March 24th, 2013
MEB
Hello!
Our daughter have MEB. She is 24 years old. Born 1988. She can walk, understand what we are saying and use a kind of signlanguage. She get blind when she was 8 years old. When she was 12 year started epilepsi. She have big problem with epilepsi every day. Sometimes she have epilepsiattack in every 20 seconds. She can speak a few words. She have problems with the sleep. It is better now than she was younger. We lives in sweden.
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replied March 29th, 2013
Can we meet on facebook?
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replied May 9th, 2013
I am a mother of a Son 24 almost 25 that has MEB. I would love it if there was a facebook page for the parents of MEB children or adults. Do you know of such thing?
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replied May 10th, 2013
there is one group called: cure cmd congenital and childhood onset muscular dystrophy. Someone are suffering by meb. I'm Elena from Italy.
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replied May 10th, 2013
Hi, we could definitely start a closed group. I do not know of any.
It might be easier to keep contact there:)
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replied June 20th, 2013
I have a son whose 4 1/2, with MEB, diagnosed officially at 2 years. I was wondering if a group via Facebook has been set up? I would be interested in joining or even initiating one. I
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