PDA

View Full Version : Hi - I'm New


Niki1977
04-06-2008, 02:49 AM
Hi there. I'm very excited about finding this forum!

I live in South Africa with my family (Christian 5, Aaron 3 and Zara 2) and my husband. My kids were all born in the UK, but we moved to SA about a year and a half ago. I would like to tell you about my son Christian and would love to hear from anybody who has a similar story or can shed some light. Sorry if it's a bit long, but I'm going to round up 5 and a half years quickly.

Pregnancy

We fell pregnant with Christian naturally and I experienced a normal pregnancy with no complications. I gave natural vaginal birth 4 weeks early at 35 +5 weeks. The birth was uncomplicated.

Development

Christian was jaundice at birth and at 10 days received light therapy over night. I was feeding every two hours and the jaundice eventually went away.

I started him on solids at 4 months, as recommended at the time, and continued to breast feed until 6 months. He went to all his developmental checks and was on track in every area including: rolling over, sitting, crawling, following with his eyes, grip, hearing, standing and walking. We walked well at a year and started speaking.
He was off nappies by the time he started playschool at 2.5 (day and night).

Christian had very good muscle tone at birth and was never a floppy baby.

When he was about 2 or 3 months old he seemed to have 'seisures' - They would last a couple of seconds and then pass. He probably had about 5-10 of these. I tried to explain them to the doctor at his development test, but she was very unconcerned and they were very difficult to discribe. He has never has seisures since and I still don't know if they were actual seisures.

As a baby Christian often lay in a car chair rather than flat on his back – could this have contributed to lack of spinal core stability?

Christian has had all his immunisations including MMR.

Sweating while sleeping

During afternoon sleeps Christian would sweat more than normal. This has subsided a bit.

Waking up & Night terrors

Waking up, especially after an afternoon sleep was bad. It would normally take about 30 minutes to calm him down. This has subsided, but he still very troubled and clingy after waking up on afternoon naps.

In his first 2 years, Christian had night terrors and we would struggle to wake him up at times. He would carry on screaming with lifeless eyes for up to 5 minutes before we can get him out of it.

Excessive Drinking.

In his first 2 years, Christian drank a lot of fluids. We would give him concentrated cold drink mixed with water but in a very weak mix. We have now taken him totally off any juices unless 100% natural.

Drooling

Christian always drooled, basically from birth. As a baby it was not strange for us because all babies seemed to drool. During his teething age it was so not terribly noticeable because other kids were also drooling, although he did seem to drool more than his peers. It was at about 2 – 2.5 when we really started noticing that he was still drooling although most of his peers had stopped. Drooling gets worse when Christian has to concentrate on a fine motor task or when he is enjoying playing with other kids.
It seems that as soon as he concentrates he forgets to swallow saliva. Although we have tried to teach him to form a habit of swallowing, he has not taken to any habit of swallowing more.

Wobbling

Up until about 2-2.5 we always thought that Christian just had a ‘cool’ gait, he had a kind of ‘swagger’. He was about to start at a playschool when my sister, who works with children, pointed it out to us that the teachers might notice that he was different. It was at this point that we started taking more notice of these habits and become concerned. I took him to our GP who didn’t show much concern, but referred us to a colleague. This Doctor referred us to an Orthopaedic surgeon who found nothing wrong.

Tiredness

Before the age of 3.5 Christian complained frequently of being tired, especially after walking. He would also complain that his legs are sore when walking more than 100m. This tiredness seems to have faded as he does not complain of this anymore. However, we seldom walk longer distances with him these days. He does not show sign of the same tiredness when playing with other kids.

Heartbeat

Christians Granny has mentioned that he has a faster than normal heartbeat. We have not measured his heartbeat to date and do not know what rate is normal for a kid his age.

In London we:

Visited GP – did not show concern
Second visit to GP – did not really see the problem, but referred to orthopaedic surgeon
Appointment with Orthopaedic surgeon – X-ray on legs – did not see any problems.

At 2.5 Christian began going to a playschool 3 mornings a week in London. They immediately noticed the problem and a health visitor was asked to evaluate him. It was really at this point that I began being concerned that it was a neurological problem.

We visited South Africa and decided begin looking for answers:

Occupational Therapist – South Africa – saw the problem, but could not diagnose
Paediatrician – Dr Beukes – South Africa - saw the problem, but could not diagnose
MRI – came back showing nothing abnormal
Audiologist in South Africa – no problems
Neurological Physiotherapist – she diagnosed ‘low muscle tone’
Paediatrician – London – saw the problem and referred for blood tests
Blood Tests – all came back clear
Referred by Dr Beukes to Red Cross
Saw Dr Ndondo at Red Cross – suspected Dystonia - trail Levadopa (did not finish the course, but did not see any results). Did more blood test.
Saw Dr van Toorn at Tygerberg Hospital. Gave diagnosis of Dystonia.
Saw Prof Schoeman. Gave diagnosis of Dystonia.

At 2.5 Christian began going to a playschool 3 mornings a week in London. They immediately noticed the problem and a health visitor was asked to evaluate him. It was really at this point that I began being concerned that it was a neurological problem.

In 2007 Christian went to a playschool one morning a week and attended Playball for half an hour a week.

In 2008 he began Grade R. He was there for 3 months and I took him out to homeschool. He was not keeping up physically. He would get tired and not complete tasks.

We have recently taken him to an Educational Psychologist and he is very much in support of us home schooling. He tested very nicely in all areas of his intelligence (emotional and academic).

Christians’ Symptoms

Drooling – Christian drools constantly and more so if he is concentrating.
Stability – Christian is unstable when standing, walking and sitting.
Standing – Christian struggles to stand still. He cannot stand still in one place.
Walking – Christian drags his feet when he walks.
Running – Christian can run fast and straight, but does drag his feet unless told to run ‘heal-toe’.
Sitting – Christian struggles to sit up straight on the floor. He will constantly fall over backwards.

Christian will complain of a sore neck when sitting to draw or do a puzzle for an extended period of time.
Christian will complain of his legs getting sore if he was to walk very far, especially if he is tired.

Christians’ Personality

Christian is a very sensitive, gentle and loving child. He has never been an aggressive to other children, although has healthy fights with his younger brother. Christian is a bright child both emotionally and intelligently. He is very aware of his own feelings as well as the feelings of others. He is eager to learn new things and enjoys learning new things including – counting, alphabet, stories, telling his own stories and making up new songs, painting etc.

Possible related family medical history

Mother – Tendonitis (walked on toes as a child)
Mothers’ aunt on mothers side – Disabled with possible Limb Girdle
Mothers’ cousins’ son was thought to have a problem with core stability and visited an OT. No official diagnosis was made.
Restless Leg Syndrome in Niki and Barbara
Mothers’ mothers’ cousins, child – Diagnosed with low muscle tone and treated at Red Cross. Also had operation on one tendon, which improved stability. (Cara Louise Hindes 79082889 79082 889) Born 5 weeks early at 1/6kgs. Had slurred speech.

Parents’ thoughts on Low Muscle Tone

Low muscle tone usually presents itself with a floppy baby. Christian was never a floppy baby. Christian does not have a muscle strength problem and can run, jump, climb and hang just like any normal child. Christian does not have any final motor skill problems and can draw within the lines, build Lego, cut with scissors and do puzzles with out a problem.

Low muscle children don’t often drool and his drooling is not caused by not being able to swallow or by drooping facial muscles.

Parents’ thoughts on Dystonia

Although Dystonia might answer more questions than Low Muscle Tone with regards to the drooling it fits in with our original feelings and concerns that it could be a neurological problem (supposedly ruled out my the MRI).

Our concern with this diagnosis is that Christian never has spasms or contacts his muscles in awkward positions. If he is falling over he will tense his muscles to prevent him falling, but this is the same as how we do when we are unbalanced e.g. clenching his hand or holding his arms out. He can readily relax these muscles.

If you have read through all that then I really really appreciate it!! I'd love to hear from any parent that can make any comment on the above.

Thank you!!

Niki

swift
04-06-2008, 04:51 AM
Hi Niki,

As far as I know, dystonia does not have to result in completely sustained postures. Also, the L-dopa is to rule out a dopa responsive dystonia. When I was diagnosed (too many years ago, I'm getting old ;) ), the standard next treatment for kids (in the UK) was to try anticholinergics at a high dose.

I don't know if http://www.wemove.org/dys/pediatric/dys.html may be useful.

If it is dystonia, it's not surprising that several docs didn't see the problem (apparently I had always walked and stood 'like a boy' even as a little one, and started having vision problems at age 9-10...but nobody said anything til I was 16 and had more problems).

Vettey
04-06-2008, 05:16 AM
Hi Niki

Do you recall how long Christian was on l-dopa? Some kids get immediate results but others take awhile to see improvement. If possible, i would do another trial bc if it is dopa responsive dystonia, medication can do great things.

There is a video of some kids with dopa responsive dystonia (DRD) before and after meds at www.drdcentral.com. Take a look and see if there any similarities with Christian.

I have dopa responsive dystonia and my legs were more low tone than contracted.

Your summary was really clear, someone else might have other ideas.

Take care,

Vettey

Niki1977
04-06-2008, 05:43 AM
Shew okay, now that I've composed myself and dried my tears!!! What a beautiful story!

Chris does not look the same, but I think I'm going to try the L-dopa again. I think he was probably on for about 5 or 6 weeks maybe. He presents very much more like low muscle tone and that was the diagnosis that paediatricians and physios were giving in the beginning.

Mother's Heart
04-06-2008, 09:29 AM
Hello and welcome to the forum. :)

One statement you made was that drooling is not related to low-tone? This surprised me. Did someone state that to you? I've always considered low-tone and drooling to be quite related.

the family history...especially the limb girdle in combination with the other tone related issues seems significant.

In addition to the movement disorders have you long since checked out neuromuscular/mito type of concerns? Here is a helpful link. http://www.umdf.org/site/c.dnJEKLNqFoG/b.3041929/
perhaps here too:
http://www.mda.org/

Niki1977
04-06-2008, 09:40 AM
Hi

It was more an observation about the drooling. Everytime I went to a new doctor or physio I would ask them if they had patients with low tone that drooled and they had not. So maybe I'm wrong there. Chris has no drooping in his face. He has stong muscle strength and can ran, jump, somersault etc with the rest of the kids. He does run and walk more on his toes, but if we tell him to he will walk heal toe. He will also swollow when we tell him to.

Niki

Mother's Heart
04-06-2008, 09:55 AM
ps: :)
I know it's not your first concern at this point...but don't give up on teaching him to swallow. My son was a very severe drooling child, even at an older age than Christian. He did learn to follow our swallow command and eventually it did become habitual. We also worked with oral stimulation exercises with him to increase his oral motor tone. He no longer drools at all. (he's 15 years old now, though the drooling has been gone for years) May or may not apply to your son but don't write him off at a certain age. Chin up and forging onward, always.

Niki1977
04-06-2008, 10:16 AM
Thank you. We work on it daily! Has your son been diagnosed? Are his other symptoms like Christians?

Mother's Heart
04-06-2008, 12:12 PM
He is unlike Christian, actually.

My son has multiple issues, many are possibly related to valproate embryopathy. (I was taking anticonvulsant meds during my pregnancy) He has Autism and is non-verbal along with some other neuro developmental things. History includes Apraxia, mixed muscle tone, (proximal hypotonia but toe-walked so shortened heelcords/hamstrings) Sensory Integration disorder, GERD, Asthma/allergies, Seizures...etc etc.

alizesmom
04-06-2008, 02:14 PM
Have you considered seeing a geneticist? Karen

lacyndarella
04-06-2008, 02:26 PM
The thing that got me was the "seizures" you mentioned he had as an infant. Maybe that is because we see our own children whenever we read these things.

When he was about 2 or 3 months old he seemed to have 'seisures' - They would last a couple of seconds and then pass. He probably had about 5-10 of these. I tried to explain them to the doctor at his development test, but she was very unconcerned and they were very difficult to discribe. He has never has seisures since and I still don't know if they were actual seisures.


I can't really tell if they were seizures or not. Probably no one ever will since they are gone. Take a look at Jimmie's seizures.

http://myspacetv.com/index.cfm?fuseaction=vids.individual&videoid=22177529

Lacy

mpalmer118
04-06-2008, 02:58 PM
Your story sounds remarkably similar to my daughter's early years. She drooled excessively. I don't have time to type out her story right now, but I will try to come back tomorrow.

I highly recommend retrying the carb/levo for a good 2 months before giving up. It has been a miracle for us.

khfernandez
04-06-2008, 03:43 PM
YIu mentioned 3 doctors, but what were their specialties? Have you seen a pediatric neurodevelopmentalist or a pediatric physical medicine and rehabilitation specialist?
Kimberly

Niki1977
04-06-2008, 05:13 PM
Hi Karen - No I haven't...I'll put that on my 'to do list'. Thank you!

Lacy - Christians' seisures were when he was so small and never returned so it's difficult for me to think that they are related to current issues, but unfortunately I can't rule them out. The MRI did come back clear though.

Mary - I am so excited to hear from you tomorrow!!!

Kimberly - The the doctors that diagnosed him were all paediatric neurologists. I haven't heard of the others, so I'll look into them. Thank you.

Sadness
04-06-2008, 09:54 PM
Niki,
Im a lurker on this site (I have a now-8yr old son who had extremely high bilirubin numbers at birth and was treated for it- I've lurked on many neuro forums trying to find another child like him as I've always felt so alone). Your post caught my eye and so I thought I'd come out of lurkdom temporarily.

Was your son jaudiced within the first day of life? How high did his numbers climb in the first 48 hours? There is a condition that is caused by extremely high bilirbubin in the first 2 days of life which can cause severe and permanent problems. One name is Kernicterus, another is bilibrubin toxicity. You may also have heard the term hyperbilirubinanemia. Bilirubin is a neuro-toxin and is extremely dangerous to a newborn. It can cause a huge range of issues including movement issues, muscle tone problems (drooling can be a symptom of low tone), learning issues, hearing issues and learning problems and developmental disabilities.

Here is a link about it: http://www.pickonline.org/

I thought I'd mention it as many people dont realize how truly dangerous extremely early and high bilirubin is (over 40% of babies show some form of jaundice but normal jaundice does not often show up until a baby is 2 days old-earlier than that is a dangerous situation). Even resolved high bilirubin numbers can cause some ongoing issues though I've found very little information online about this. I hope this ISNT it but thought I should share, just in case its applicable.

I hope that you find an answer for Christian.

Hugs
B

Niki1977
04-07-2008, 02:10 AM
Hi B. Thank you for coming out of lurkdom. Chris was jaundice at birth. After about a week he went back into hosptial and they put him under lights. It lasted maybe another week or two and then subsided. How would I now be able to test if and how this affected him? I was never told anything about numbers or bilibrubin durnig this time.
Niki

RathyKay
04-07-2008, 02:48 AM
Welcome B/Sadness. Jake/LittleJT had pretty high bilirubin levels, but Amy was told it wasn't kernicterus. I keep thinking there was another poster with high levels, but I'm drawing a blank. Makes me wonder if they didn't post too many times??? Anyway, start a new thread and ask about it.

Niki, welcome also. I'm sorry you both need to be here. I was searching for some info for you, and now I'm getting sleepy.:o So, I'll point out this website on vitamin B12 deficiency http://jccglutenfree.googlepages.com/b12deficiencysymptoms and let you decide if that fits at all. Some of the symptoms include: abnormal gait, impaired position sense, fatigue, panic attacks (night terrors?).

One other thought on the bilirubin levels... in the US, they're required to maintain health records for 10 years. The patient (or parent) has the right to a copy of the records. I would see about contacting the hospital and finding out what you need to do to get a copy of the records. They can charge to make copies, so depending on the length of his records, you might ask for just copies of all the labwork.

How old was he when he had his MRI?

Anyway, welcome to BrainTalk.

mpalmer118
04-07-2008, 12:14 PM
Okay, I am going to try to address this piece by piece so bare with me. An important point first Rachel is being treated by carb/levo but it seems she may not have true DRD. There are some things that don't fit, but she definately does respond to the medication and she definately does have a dystonia.

My pregnancy was effected by severe pre-eclampsia and Rachel's birth was natural with vacuum extraction. She suffered some head trauma from the vacuum and needed resusitation at birth. So that is different from your experience, and actually may be the source of Rachel's problems.

Rachel was jaundiced at birth also, I would recommend obtaining Christian's records regarding this. I did some digging when I was researching about Rachel and a lot of the symptoms fit with hyperbilirubin.

As far as feedings and developement Rachel was (is) motor delayed, but she also has a vision disorder. We now think that some if not all her delays were related to the vision disorder. She ate on time with no problems except reflux.

Christian had very good muscle tone at birth and was never a floppy baby.

Rachel was not floppy at all, except when she had her "episodes" and then it was more like the muscles gave out than really floppiness. Many people have told me years later that she felt stiff or rigid to them. But to my new mommy arms she was perfect.

The drooling is a big thing for me, it was one thing that none of the first neurologist's seemed to be concerned with. But it was obvious that she was not able to swallow at times.

The gait is another DRD flag, but could also be a factor in things like Episodic Ataxia, or CP.

Rachel's sleeping pattern has always been very restless, sometimes because of a medication, but more often just because...

I am interested in knowing if Christian has better times, or is the wobbling and drooling pretty constant? Has it stayed the same over the years or gotten a bit worse as time goes on?

The thing that really struck me with your post is that some many people see the issues, but doctors don't seem to (yet). All of Rachels tests have been normal. (her mri has a small abnormality, but it has been determined not to be the cause of her issues).

Here is a description of Rachel's episodes. It is important to note that she started out pretty mildly effected with just some tilting episodes and drooling it slowly progressed over the years to be more severe and more frequent. She does still have trouble if she over does it, or is ill, but the medication as opened an whole new world for her.

"tilting" episodes-- she leans to either side or backwards and is unable to straighten up. This type can affect either her back or neck/head. There is no tighten/release pattern she will remain that way until she rests, it can progress further if she doesn't rest. She seldom complains of actual pain. More recently she also has something happening in her legs.

"tired" episodes-- she has difficulty talking and swallowing, she will drool with this. She can look dazed and glassy eyed (hence the tired title) but is perfectly aware. She can speak with extreme difficulty. This seems to involve something with her neck but we never see any posturing of any kind. She has recently let me know that she hears/feels (?) a clicking in her mouth/jaw before they start. It has also been noted by her neuro that her back was rigid when he examined her during one of these events. This is the most frequent of all the episodes, happening daily or several times a day, always late afternoon, evening.

She also has tremors/spasms that maybe a different beast altogether, they are fairly infrequent, but she will have spasms in various facial areas, cheek, lips, tongue, eye blinking and voice. Her hand is always slightly tremory, but she will also have events of spasms where her hand muscles will bunch her fingers together then release and start again over and over.

In between events she is pretty normal. Rachel as what is called diurnal flucations, which means that her symptoms get worse as the day goes on, but many people with DRD have symptoms all the time.

There are lots and lots of things that can cause the problems you describe for Christian, so keep digging, but always keep in mind that no 2 people present the same picture. I would highly recommend seeing a neurologist who specializes in movement disorders if at all possible.

Mary