I apologize ahead of time for this being so long but I felt it important to get the whole story out. I need advise on where to turn next and what to do because I am lost.
Connor is my 15months old son and he has been losing ground developmentally since late December. He walks like he is drunk. His balance while standing is poor at best, He will just stand there and fall over either face first or sideways without even trying to break his fall. I can't tell you how many times he has gotten hurt due to this in spite of my guard dog attitude in keeping it from happening. He is now having trouble sitting. Without support he will teeter and totter until he falls over. He has lost words and now won't even say the 3 words he managed to retain through all of this mama, Dada & uh-oh. Now he mostly babbles like an infant. His face swells up to the point that his eyes appear like slits at times. This is mostly after waking but can happen at anytime. He has had 2 seizures with the first one on 1/8/08 & the second one a couple of days later.
Up until Jan 8th his pediatrician has said it was probably a cold or virus & it was just throwing his balance off. On the 8th we were at his Dr for a well check up & we got to see his regular Dr not whoever happened to be there like we do for sick visits. His head size has gone up 7 percentile points since his last check up to the 97th percentile. He also had a seizure while there. He did not have tonic-clonic or grand mal seizures but his eyes rolled to the back of his head while we were changing his diaper & he got all floppy. He didn't try fighting us like normal while changing him. He never tried to get up. He just laid there alternating between eyes rolling into the back of his head for a few secs & then looking through me but not responding to me in anyway. When it was over he got real lethargic & slept for a long time. He had another a few days later (I am pretty sure it was a seizure but he was asleep & I couldn't evaluate his mental status). We were sent within 2 days for a cat scan w/ contrast while sedated at Jersey shore med center which came back normal. On the 14th we went to the neuro for an EEG & that came back normal but we ended up getting admitted to Children's Hospital of Philadelphia (CHOP) that day from the office.
We have just returned home from a 5 day stay at CHOP. It was a completely unexpected turn of events. We were only going to the neuro Dr office for an EEG & ended up being called back to see the Dr & then sent straight to the hospital. EEG was normal but the Dr was concerned after hearing his history & story from her tech & nurse. As of now. My son is worse than when he went in. He now can't sit without bobbing & falling. They are calling that truncal tibulation (spelling may be off here. I am so tired I can't think straight). He has had all sorts of tests w/ nothing really coming up. "The MRI appeared normal or relatively normal" no one would tell us what "relatively" means. They kept talking about something showing up but that it wasn't in the area of the brain that they believe the problem is (cerebellum). I kept asking but no one would tell me what the rest of the results were. I asked for the report so I could look it up myself but I was told I had to request it & it would be sent to me. I put the form in before I ever left the place. He also had an LP. The only thing I know is that the fluid was clear but the rest of the tests they are running have not come back yet. At CHOP they measure the pressure of the fluid in the spinal canal before they drain anything off and they did say that the pressure was high. Not extremely high but higher than they would expect from someone his size. That reading was 30. He now has a real bad cold and they told me before we left the hospital that him getting sick could make everything worse (he was showing signs of the cold while still there just not as bad as now).
At this point they are saying they don't know what he has exactly but his discharge diagnosis is acute cerebellar ataxia. That is a symptom not a cause but they don't know the cause yet. They wouldn't give him steroids because they say that the risks out weigh the benefits at this point. They are hoping his body will repair itself & are waiting for him to plateau or get better. If he gets too bad & I don't feel he can be cared for at home anymore I am to bring him back or to me nearest er & they will transport him back (we live 1 1/2 hrs away from CHOP). I can't say I am comfortable with any of this. The Dr who saw him in the office & admitted him to the hospital on Monday saw him again on Thursday & couldn't believe how bad he had gotten. Now we are sent home no better but worse w/ no answers except for what he doesn't have. I am at a loss & I am scared. To watch my son regress months in development in such a short period of time & to do nothing but wait is killing me. The Dr's told me that there is no chance of permanent damage & that he will return to normal but I looked stuff up & I know it is rare but this can result in permanent damage & development loss depending on the cause & no one knows the cause at this point.
I am so scared. As a mom this is so hard to watch your child want to walk, keep trying to walk because he used to be able to but not able to do it now. This waiting game feels like I am dying inside not knowing what is going to happen next. Up to this point anyway everyday brings something a little worse with him. Some drastic some just small stuff but no progress just regressions. As a disabled RN myself it is tough because I have found out that too much info is not always a good thing. I know the outcome of some of these cases & I know that this can at times cause permanent damage and loss but the Dr's keep telling me no. Anyone who looks up the word inflammation swelling is always a part of it to some degree. These Dr's keep telling me to think of it as inflammation as in redness. I think part of the problem that this is not being taken as serious as it should is because my son is the type of kid that is happy all the time. He has such an easy going disposition and you tend to think those kids aren't as sick as they may be. I took him to his pediatrician with a 103.2 fever and pneumonia and the Dr looked at me like I was crazy and said "This baby is sick?" Until she heard his lungs that is and she couldn't believe how sick he had been that he was as calm and pleasant as he was.
Does anyone have any idea of what this could be? I have read the info on what they diagnosed him as having and not all the symptoms fit. It is like some symptoms he should have to meet there diagnosis aren't there and they are leaving out symptoms he does have because they don't fit the diagnosis. I almost feel that they are trying to force him into a diagnosis and it just doesn't fit. I have this deep gut instinct that something else it going on and we just aren't getting it. Call it mother's intuition or the nursing instinct this just doesn't feel right. I just wanted to know if anyone had any other ideas? Any idea of what to expect to happen next if this is what they say. He is getting worse and I need to know what to expect down the line. I can't take the waiting and watching never knowing what is going to happen next.
I am sorry that you and your child have to go through all this.
I think your child is having what we call it as neuro-degenerative disorder. The reason can be anything like metabolic defect or structural defect or due to genetic lesion or can be infective too.
The MRI report says that he appears relatively normal. I think you should be showing your scans to another neuro-radiologist, there would be some subtle changes which can be seen by neuro-radiologist.
His EEG report can be normal, but I am sure he might have some structural abnormality.
Keep me informed if you have any queries.
these pages are moving very quick with posters and must have lost in the shuffle... i respopnne d yesterday this below........
and if you hadn't yet, log in the National Ataxia Foundation (NAF) we b site , there will be people who can offfer support i am sure.
i can only imagine you must be scared,
i will say, trust your motherly instinct. AT the VERY least, you deserve complete explaination of what the doctors are thinking and then explainationsof all tests and procedures they have preformed along with all the results. This is your babyand you have hired these doctors to help.
I presume he been seen by Pediatric Neurologist at the hospital?
While yourself having copies oof files and tests, it is they duty to discuss them with you.
If you are not comfortable wit h them sending you home, at least calll them again, talk with the docotrs, not a nurse or anyone else,
go over alll your concerns .
And remebr you can have second oppionions.
i wish i could help more, i know it is hard whennn yoour c hild is sick
Thank you. I thnk the worst part of all of this is that it feels like they are forcing him into this diagnosis like a box but it doesn't quite fit. If there are symptoms that don't fit then they just leave those symptoms off and don't bother with them.
How is your son doing?
I am you are very upset about the way medical professional have shown no concern in explaining you he condition of your child.
I was explaining regarding the clues your child has given in his symptomatology. His initial development was normal with subsequent slowing of development. He also had regression of previously acquired milestones.
Is there a family history of similar lesion? Anybody in the family now or before had similar symptoms.
Any child in family had similar episodes before?
He has even got movement disorder like his ataxia.
Has he got any characteristics features in body like any cherry red spot mentioned by doctor on Fundoscopy etc.?
Dis he have seizure so far? If yes, what type of seizure was it?
I would be interested to know about his disease progression and about his health in general.
Keep me informed.
Thank you so much for your post. As to your questions. My son's development has been completely normal up to this happening. He has had some problems with bronchitis and he was referred to a Dr for an asthma work up but this all happened and we didn't get that far. We have had no family members with anything like this. He has 3 other siblings and they are all healthy.
He has had 2 seizures first one on 1/8 and the second on 1/10. They were not tonic-clonic but he got all floppy with his eyes rolled to the back of his head. He was not responsive at all till it was over. He was very lethargic after this was over. The second seizure I am not sure if it was a real seizure because he was sleeping and I couldn't evaluate his mental status. but his right leg was shaking and moving rhythmically for at least a min. This is not something he has ever done before. The Dr's at chop tried telling me maybe the first seizure wasn't a real seizure. He tried telling me that because my son has been so dizzy (don't know how he knows that) that he probably checked out for a while. Not only am I a mother of 4 but I was also an RN before I got hurt and disabled. I know that what he had on the 8th was a seizure. He has not had anymore that I have seen since the 10th.
He is still falling all over the place when walking. He doesn't even land on his butt like babies learn to do. He falls face first or to the side. He doesn't even attempt to break his falls. Sitting he has a lot of problems. He falls without support and will bounce off the sides of his bed while sitting. He is still babbling like an infant, He at times will repeat words like a parrot but he won't actually use the words like before. He has since stopped feeding himself. We have to feed him his food but he will take his bottle by himself. He seems to choke alot now where he didn't do that even as an infant.
I don't know if this related to anything but he will sit and spin in his activity center for very long periods of time while tilting his head to the right. I know babies do this but I am talking degree. Everyone who has ever seen him spin comments on how they have never seen anyone do it as much or as often as he does. He doesn't tend to get dizzy with it either. His personality is starting to under go changes. He is normally a very happy easy to deal with baby. Much easier than any baby I have ever seen. He is still happy but at the same time he gets very agitated and nothing can calm him down. His crying sounds different too.
I know I have added alot here. I don't know what is realative and what isn't but I figured I would just put it all out there and see what I get back. Thank you for taking the time to read and answer me. I really appreciate it.
I think his symptoms as I have explained coincides with diagnosis of Neuro-degenerative disorder (NDD). Again after understanding that he might be having NDD, we should try to evaluate and see whether he ahs grey matter lesion or white matter lesion.
His history of seizures, language problems, ataxia strongly suggests that he has extensive Grey Matter Disorders.
Yes after reading the full post, I feel that he has neuro-degenerative disorder involving the grey matter extensively.
Can you please post his MRI report?
I am sorry but can you tell me his actual age and his birth detail.
Is your marriage a consanguineous one?
I can't post his MRI report as I do not have it yet. I tried to get the report before I left the hospital but they wouldn't let me. They said that they would have to send it to me and I have already put in the request. I will post it as soon as I get it.
My son was born 9/28/06. He is 15 months old now. His birth was normal. He was a vaginal birth with labor and delivery lasting only 1 1/2hrs. He came home with me from the hospital with no problems. My husband and I are not related in any way. We have 2 kids together and I have 2 older kids with my ex-husband. None of the other kids have any problems like this at all.
There are different causes for different age groups in pediatrics.
Does your child have opaque cornea? Does he have large liver and spleen?
Is that his abdomen large enough?
How is his appearance now? Does it look normal?
You said his head is growing rapidly but his MRI is reported normal.
Large head suggests a diagnosis of Canavan disease or spongy degeneration or Alexander's disease or late stage Tay-Sach's disease.
Are there any skin changes?
You told he is having ataxic disorder.
Does he have blindness, retinal abnormality or any abnormal ocular movements?
I am just suggesting what could be the possibility, but it is always important to see a doctor for physical examination and evaluation.
Keep me informed if you have any queries.
As I have said in am earlier post my son was just released from Children's hospital of Philiadelphia. He has been followed by a team of dr's but they don't seem to be coming up with more than Acute Cerebullar ataxia. The cause is not known at this time. At least that is what they are telling me. The answer to all your questions above are no he doesn't have any of the symptoms you asked about. Corneas are clear, liver and spleen normal and not enlarged. Abdomen normal. He appears fine to look at him except for the times he seems to be zoning out and he looks out of it. The exact wording of the mri report are unknown to me at this time. I am trying to get a copy and have already put in a request for that and the reports on his LP. The dr's did say that is showed "something" and it could be a clue later on but at this point it is not in the area of the brain that they feel the problem is and they would not elaborate on any more than that. The one dr said that his mri was "normal or relatively normal". Then they told me that if you scan everyones brain chances are you will find something not exactly right but it doesn't mean that there is a problem. I don't know what that means except that something showed up whether it is related to what is going on with my son or not I don't know but they won't tell me what it is and I have to wait for the info to finally be sent to me.
We don't fit any of the hereditary or genetic risk catagories for Tay-Sach's disease.
He is not blind, no retinal abnormalty has been mentioned. No abnormal occular movements noted by myself of his dr's.
My first thought when all this started was hydrocephally due to the increase in head size first noted in utero at 36 weeks but cat scan and mri seems to have ruled that out.
I was reading your post yesterday and just happen to see on Good Morning America this morning about a child who has similiar symptoms to yours. This child is unable to absorb folic acid. Anyway, just thought I would let you know so you can at least check it out.
Thank you so much for that info. I didn't happen to see that show but I am going to go to that website and hopefully they will have that story. I am hoping to print it up and bring it to me ped dr on Tuesday. I never thought of that and will definatly do some checking.
That is something that my husband and myself have asked them to check for but so far they are dragging their feet about it because they have their minds set on something else. I am going to ask my primary ped dr on Tuesday to test him for it. She knows us and knows what we have been through and thank God she listens to us. Hopefully she will give us a script for the testing. My little sister was one of the first in our state to get diagnosed with lymes years ago. No one had ever heard of it and the testing was only done in Lyme, Conneticut. I know how bad she got cause they didn't really know how to treat it and that has been nagging me for a while. She had started to have effects in her brain right before she died (not from lymes).
Just a quick update. My ped dr called me the other day after speaking to Connor's Neuro dr and she managed to get the diagnosis out of them. They THINK he has post viral cerebellitis with ataxia. It is not something I am finding a whole lot of info on. At least not personal stories. I want to know what other families have really gone through not the easy answers that I seem to be getting from his dr's. What I have found is not great. Every one of the kids have had some residual damage from this. Although his dr's keep telling me full recovery within 4 months. These families have been dealing with it for years some kids not even able to crawl and 7 yr olds going back in diapers. I am scared and want to get him the earliest intervention possible to try to minimize the damage but I do know that while he is still in the acute stages (he is still losing ground) we just have to wait and that is the hardest of all to do. I didn't realize how much he lost and how far he fell behind until I heard all the stuff my neice is doing. They were within a few days of each other with every milestone and now there is just no comparrison. I had a real low day yesterday and I haven't recovered from that really. I just want to sit and cry but I know that I can't cause my son needs me and I need to still be there with my 3 other kids.
I just feel horrible for your whole family. This is really a tragic story. I hope it has a good ending in the long run. I would still insist on lyme testing to make sure no stone is unturned. It can cause meningitis and encephalitis. The ELISA is a very poor screening test. I would request a lyme western blot IGG/IGM. It's hard to detect so it is often misdiagnosed as a "viral" illness. Often times elusive illnesses are diagnosed as viral or post viral as they don't really know what causes them. I'm not saying it's lyme but just to cover all bases as there is a lot at stake here. Best wishes for your whole family.
I am so sorry to hear about your son. I am going through something very similar with my 3.5-year-old daughter. I understand how frustrated and terrified you are. My advice to you would be to make sure that the infectious disease doctors test the CSF from your son's spinal tap for ALL possible viral causes (not just the most common) -- full range of herpes viruses (HSV, HHV6, varicella, etc.) as well as Guillam-Barre, coxsackie, enterovirus, parvovirus, West Nile, etc. It was only on my daughter's second lumbar puncture that ID tested for HHV6, which came back positive. Anti-viral treatments can be used if benefits outweigh risks. Also, ask if the CSF shows any evidence of pleocytosis, which can be a sign of an autoimmune response, rather than a viral cause. Certainly get a second opinion from another ped neuro. I doubt you will get a different diagnosis, but it may give you some peace of mind that you are doing all you can. Also, find a well regarded neurologist that you like and trust, since you may be working with him/her for some period of time. Once your son plateaus and begins to improve, get him intensive physical, occupational and speech therapy. It's awful to see your baby have a hard time, but keep the faith that he will get better.
My daughter's case of cerebellar ataxia has been relatively severe. It began in May with intentional tremors in her right arm and progressed through mid June. At the worst point, her truncal ataxia was so severe that she was unable to sit up. Her other symptoms included nystagmus (“dancing eye”), dismetria, dysarthria (slow speech), and persistent vomiting. She had three MRIs through mid June – no pathology was identified. She had three lumbar punctures – the second two were positive for HHV6 (the virus that causes Roseola in babies). Toward the end of June, she began to improve slightly on her own, and was treated with a strong antiviral to help her immune system fight the HHV6 infection.
In early July she had improved enough to be transferred to an inpatient rehabilitation facility where she received intensive therapy (physical, occupational and speech) for about six weeks. She was discharged in August and has outpatient therapy three times a week. She had improved significantly through early January, but has recently suffered a significant setback after a couple of cold viruses. She will have a follow-up MRI in the next couple of weeks. Her neurologist still believes she will make a complete recovery, but that it will be a protracted process – likely 12-18 months from onset.
For what it’s worth, I’ve heard the same general information about acute cerebellar ataxia in children. It used to be much more common before the varicella vaccine was given. Children under five years would typically have a rapid onset of ataxia (in this context referred to as post-infectious cerebellitis) two to three weeks after having chicken pox. In the vast majority of cases, symptoms would resolve in 2-4 weeks. Although a well-documented pediatric medical condition, it is quite rare particularly in the case of moderate-severe episodes caused by active viruses/infections. It is a diagnosis of elimination and clinical observation – which is frustrating for the lack of certainty. I've also been told that in most cases there is a full recovery, although there is some chance of chronic issues.
I will keep you and your son in my prayers. I hope that the MRI and LP results will provide some helpful information. I pray that his case will resolve quickly.
I am sorry to hear about your daughter I am going through the same thing with my child in early January she became ill with flu like symtoms then she seemed to get a little better then February 18, 2008 the bottom fell out from under me. My child sleep for 24 hours straight could not walk or even hold her head up she was running a high fever I took her in to her Pediatrition they said just a cold gave her meds sent us home very next day I took her back which both time mind you I had to carrry her in my child is seven years old so by the time I got ready to leave and they told me again let her rest it is just a viral infection well I was feed up I took her to the local hospital were they admitted her she stayed for 5 days while they tried to figure out what was wrong and at the same time treated her for vertigo it was not vetigo so we were sent to Chapell hill Childrens hospital from their she had three spinal taps some things were not normal the doctor said she had accute cerebellar ataxia stayed for about three weeks she had therapy and final began to walk but still unsteady gate. We were home for about a week and ended back in Chapell hill with abdominal issues and headaches. Then we seen the gastro doctor he diagnosed her with gastrointestional delayed empying. We went home again and still problems she is taking OT, SP, PH. those things are helping but it has done some damage not sure if it will heal on its on but we are schelduled to go back into the hospital this thursday 8/14/08 to place a feeding tube because Briana doesn't eat hardly at all and has lost alot of weight and when she does eat her stomach hurts hopefully we can get some answer. I feel just like you do drumwidow I won't to crawl in a corner and just cry because so much has change about my child her personality not the same I miss my Briana and I pray every day God will restore what she has lost. My prayers are with you and your family.
Your little guys history sounds somewhat like mine....I went to the doctor when I was around 1 year old, misdiagnosed, and later went on to the hospital for severe pnuemonia. I dont know how long I stayed there for, needless to say there were severe effects from it.I already had pretty bad motor difficulties, however this just made it worse, falling over, etc just like your little guy. I also had more trouble with pronunctiation after that. Later on when I was about 3 or 4, I was placed in Special Ed(ECEAP program) for had severe trouble with motor(fine and large), language, attention, cognitive, and behavioral therapy, and was put in a 'self contained special education class with related services'', with no diagnosis, and after getting all those therapies, years later I met my friend Darrens mom, well she started regocnizing some of the issues I had and I was exactly like her son to a 'T' and so she pointe d me and my family in the right direction and after a few months of waiting for my results form the Nuerologist....It turns out I have Aspergers Syndrome, which is a form of High-Functioning Autism in case you didnt know...Thanks to all those therapies and years of hard work, I now am pretty normal. My pointis I now I have a pretty good life( taking advanced highschool classes, have a volunteer job and friends!)! And your little guy will get better
My question for you is: Does your little guy possibley have Retts Syndrome or Childhood Disintigrative Disorder?(there both also forms of Autism here) It kinda sounds like he might have that...
We have the same story my son also had seizures when he is 12mnths maybe 4 to 5 seizures.when he is 9months ha can crawl and say dadada mamama.after the seizures he cant say anything and he cant crawl anymore but when he is 14months he can walk already but he cant talk/speak.he was born dec8,2000 and he is 11yrs old now he is attending special class.he can say a few words only
I know its been a couple of years since you posted this and i just wanted to know what was the outcome of your baby boy. My sisters sister in law has her baby boy who just turned 1 last month and is going through a similar situation.
Maybe you can share what the doctors did - test, final diagnostics and how your baby boy recover from all of this.
I write to you in the hopes that all turned out well for your son and your family.
I would also like a follow up. My now 21 month old son has been going through the same thing. It started at 15 months old with a tremor and then went to unstable walking and standing and nastagmis. They just did a blood test for aoe extremely scary things that I hope come back negative but I won't find out for 6-8 weeks. I'm a mess right now and am needing some hope. Thanks.
Well the drunk like walking is the same with my son test for gluten ataxia as ataxia is the drunk like walk its rare we never had the gluten ataxia which if eating gluten and anti bodies are present can deter ate the balance area of the brain so have your child tested we are to date only ones in the world with chromosome 1p13.1-13.3 denova deletion so we are really going into the future blindfolded not knowing our son Is 10 we kept him walking and now are trying to save him walking hip surgery foot surgery eg oh and get a b12 test done and homocysteine levels as this also can cause the ataxia xxxooo
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