My SIL needs your help

Hello all. My SIL needs your help.

 She sent me this email and asked me to ask you if any of you had any insight for her.

 Just as a way of background, they live in Tanzania and they have no access to any specialist doctors, OT’s, PT’s, early intervention or anything more than a family doctor.  She is coming to South Africa in March to have Amber assessed professionally.  

 I want you to post a blog on Amber,....I want you to ask the people (readers) if they have heard of a child like her.

Every body I have spoken to has not... I am getting scared that something big may be wrong with her.

She is almost 20 months (next week) she does not walk yet, but she gives a few steps, she does not talk at all, she use to say mamma and pappa, but now nothing..... na da.  She used to sleep through, but for the past 6 months or so she is awake up to 5/6 times a night. 

  It is as if she is going backwards in stead of forwards.

She is going to the Dr for the assessment, but it still feels ages away, but like I said only if you feel comfortable doing it.

 I asked her a few more questions and this is what she replied. (BTW, Amber is a friendly, happy child, very sweet disposition.)

she used to eat better than now, she sometimes eat well other days she eats really bad, she drinks a lot of fluid, likes yogurt, rice and chicken, she is picky but not as bad as Dylan was.  She crawls, most of the time, hands and knees, started off sailing on her stomach at about 6/7 months, crawling on all 4's at about 9/10 months. Sitting she did early (i guess) was around 5/6months.  Her body does not seem that strong, as a lot of people who see her tell me she has low muscle tone (they think), a lot think she needs muscle therapy, other say she needs a full body scan.  she is starting to walk "longer" distances the last week, but her hands and body style looks a bit of the balance, it looks like a baby who just started to give their first steps.  She sleeps really bad lately as well.

Don’t know what else to tell you

I pasted her email as is.  English is not her first language. If you are part of the grammar police, please look away.

 Can you offer any insight?
 

Comments

[blackbird]

I won't speculate -
it's good she is going to SA in March to see a doctor there.
I can't imagine that another few weeks will cause any significant damage...you'll have your answers soon.
Please give us an update when you have one, I'm sure we'll all be thinking on her.

[Penelope]

My friend's little boy was very similar, he saw a physio for a few months and is now greatly improved, it was low muscle tone. He also seems speech delayed, but they're not worried about it. He's 19 months now. I hope she gets answers in March!

[Carmen]

I'm not sure what to say except to tell you about my little boy. He was adopted at the age of 14 months and had zero muscle tone; he couldn't even crawl. He learned to take his first steps at the age of 17 months and then actually walked. He is also speech delayed at the age of 22 months and can only say "Papa" and "Mama". Sometimes you need to give them some more time to hit developmental milestones. Maybe this is the case with Amber? There is often a LOT of pressure on kids or their parents to hit those milestones at a certain time. The doctor will be able to shed some light.
Please let us know how things turn out.

[Liza]

http://doolittle.typepad.com/doolittle/2007/01/chain.html

That is a link to a post of mine about realizing two of my children suffer Pervasive Developmental Delays (PDDs are autism and four other disorders of the central nervous system that can in fact cause children to go backward with their motor, verbal, and social skills). In that post, I link to a free online "quiz" to see whether your child has a PDD. Tell your SIL to go there and take it for Amber--there are clear explanations of how to answer each question, and you don't get a bunch of ads in with it or anything. You have my e-mail; feel free to give it to her and I will see if I can answer any questions she might have--I'm seeing a lot of specialists in this area with my kids and perhaps I could even forward one or two of her most pressing questions on to them and ask their opinions. XOX

[Liza]

Of course before doctors here will make a diagnosis of a PDD they make you take the child to a neurologist to make sure that nothing more sinister is going on in their brain, and of course her doctor can tell her best and I could totally be wrong. It just sounds so very familiar, and there is no harm in her taking that quiz--it'll give her some good information for the doctor because it forces you to really think about your child's abilities and areas of weakness, developmentally speaking.

[Melissa Braun]

This sounds so similar to what my daughter has - albeit to a different degree. Some things to look at:
1. childhood apraxia of speech (along with global apraxia)
One great website to look at is www.cherab.org

2. hypotonia

3. sensory integration issues

For many children with apraxia (which is a motor planning speech disorder and not a delay), there are other issues such as picky eating, low muscle tone, other motor planning problems such as walking, fine motor skill deficits, feeding issues, etc.

A great yahoo group filled with parents of children with apraxia and several specialists as well is http://health.groups.yahoo.com/group/childrensapraxianet/

The best book to read is The Late Talker by Marilyn Agin, M.D.

I realize your SIL's child is dealing with more than speech issues, but that's what I know most about because that's what my daughter faces. My daughter also faces other dyspraxic / apraxic issues, but not to the extent as she does with speech.

Hope this rambling helps.

Also, I realize it may not be apraxia, but at least she should look at apraxia / dyspraxia to rule it out.

[MamaChristy]

The only other child who I have heard of similar to this at all this is not something I want to tell your sil about. Heartbreaking stuff and it probably isn't the same thing anyway.

Tell her to enjoy her baby girl and love her and try to put what could be wrong out of her mind. It may seem like a long time to wait to find out what is wrong, but it really it will seem like the blink of an eye once they know. Cherish the moments before things change...

[Julie]

I hope the next few weeks pass quickly, and your SIL can find a Dr to help her in SA. My heart goes out to her - I know how stressful it is to be an expat in a 3rd world loction with no decent medical facilities.

Hope some of the Mums can help with info in the meantime. (((HUGS)))

[isabel]

I'm sorry your SIL and your family has to deal with this.

My niece was diagnosed as autistic at 17 months (she was completely non-verbal and made no eye contact, among other things). Early intervention was key. My niece is now no longer showing signs of autism: she is still a little different.

I hope your SIL finds some answers. It sounds like she's starting early and I hope her can-do attitude pays off.

[Susan]

It could be a delay in hitting milestones, which many children go through without any future problems. It also may possibly be PPD/Autism. I am certainly not an expert, but I am close to a few children who sound quite a bit like Amber. They are very sweet children as well.

If it is PPD, just know that it CAN be reversed (a recent study showed that a minimum of 5% of cases have been shown to "lose" their PPD diagnosis), or at least alleviated with therapies.

There are excellent books on the subject, so even if there is a lack of facilities available in Tanzania, maybe with some self-education your SIL can learn to work with Amber on her own.

Also, I just wanted to add that many people with PPD or undiagnosed low-level autism go on to be self-sufficient, even brilliant adults. They have a different way of looking at the world, and that is not always such a bad thing.

Best of luck to Amber and your SIL. (((HUGS)))

[goodsandwich]

Quite a few of the things are just normal stuff, although I don't know anything at all about the total picture. My own son is 26 months old and STILL is a challenge with his eating! And I certainly remember a sleep regression around that age, in his case due to being hungry when he went to bed, although not necessarily quite that often per night. And I was a super-late walker myself, not one step until 19 months and not much after that for several more -- and look at me, typin' away at the internet!

Well, I'm no professional but just wanted to offer some potential encouragement. And your little girl is simply gorgeous!

[Menita]

What a beautiful little girl. I hope your SIL finds the answers (and solutions) she needs.

[perceval]

I was a very late walker (21 months) and was later diagnosed as dyspraxic. I think early intervention is key. Your sister should not let herself be fobbed off with "oh, they're just late developers" unless Amber has been tested thoroughly by somebody who knows what they are doing.

[susannah]

she is lovely and looks a lot like adam. sorry i have no advice. good luck.

[MollieBee]

She really does look a lot like Adam...how sweet she is. Best of luck to Amber!

[Liza]

Yes, dyspraxia is certainly a possibility. One of my kids has dyspraxia with hypotonia, secondary to an autism-spectral disorder. I myself have a milder form of dyspraxia, secondary to same. Yes, that's right, I am an adult with a PDD. And I am a self-sufficient member of society with an advanced degree who never had any early intervention as a child. So if they cannot find it, tell them do not despair; there is a lot that they can do with Amber at home if they can at least get a diagnosis, and again, I am more than happy if this is what it is to pass along information from my childrens' medical and OT caregivers. We are still in the middle of the diagnostic process, which takes a long time here so I can only imagine how it must be without such ready access to specialists. I went digging in my blog and found the direct link to that online PDD assessment tool (free and easy, with good instructions--you may have to help your SIL but I think she should be able to do it if she can write English as well as she did in the pasted bit--for a non-native speaker she does very well, I think. Here is the link; I don't know how to embed it in a comment the way some people do. Sorry! http://www.childbrain.com/pddassess.html

[Hannah]

I'm not really qulaified to diagnose, but the first thing that came to mind was PDD (as some others said). I saw a special about it last week, and some of the other children had similar symptoms. I definitely think it's a good idea to get her checked out. Early intervention can make huge difference.

[SimoneG]

My daughter didn't crawl until 13.5 months and didn't walk until she was 18.5 months. At 20 months she was still shaky on her feet. She also took a lot longer than her same-age toddler friends to start talking. I don't remember her saying much at all, if anything, when she was 18 months old. All of her doctors agreed that she had hypotonia (low muscle tone) and she was, and still is, a very poor eater. She's now on the 10th percentile for weight, but for the longest time she was well below the 3rd percentile. As for sleeping, I had to take her to a 'sleep school' when she was 17 months old because of the constant night waking.
She had every test under the sun (well, it sure felt like it at the time) - chromosome testing, enzyme testing, an M.R.I of the brain, an endoscopy to look at her stomach, visits to speech therapists, physiotherapists etc. In the end, the only result that was slightly off was the M.R.I. It showed slightly under-developed myelin. The neurologist said that as the myelin developed, so too would her physical development and speech. He likened myelin development to apples ripening on trees. Some kids just take a bit longer to mature/ripen than others.
Now my little one is 28 months old. She is walking, running, climbing and at a recent visit to the paediatrician, I was told that her speech is actually advanced for her age. Physically she is a lot more cautious than her peers, and she's not very fast on her feet, but that's really the worst of it.
I'm not trying to say that your SIL has nothing to worry about, and I do think she should have these issues further investigated (if she can), but there really are some kids who just take time to get going. I made myself sick with worry, and got depressed. Very depressed. I didn't talk to my daughter as much as I should have because I was so anxious about what might be wrong with her. I still get teary-eyed thinking about that time of her life. So my only other bit of ass-vice would be for your SIL to talk to Amber...a lot. I used to think I was wasting my time talking to my daughter because she never talked back. I didn't think she was ever going to talk. But when she did finally start talking, she remembered words and lines from songs that she'd heard months beforehand. I also had her watching 'Baby Bumblebee' DVD's, and I'm sure that helped immeasurably.
Does Amber try to communicate in other ways, e.g pointing?
Sorry for the long post, it's just that I can relate to how your SIL must be feeling. I hope she keeps an open mind. Amber might just be a flower that's taking a bit longer to bloom.
Please keep us posted, Tertia.

[SimoneG]

Just wanted to add that Amber is such a pretty little girl. Keep showering her with lots of love and affection.

[Heather G]

Is she perhaps learning more than one language? If so, that can be a reason for talking later.
My husband was a late walker (20 months). Not sure that that helps.
Does she point? Seem to understand but just not talk?
The eating and sleeping thing sounds pretty normal for that age (unfortunately).
She looks lovely.

[Claire]

I really don't want to speculate and or scare the crap out of you but I feel I must mention this. Since the lack of speech is a regression rather than a delay please mention Rett Syndrome to the doctor. In brief, it mostly affects girls and is characterised by a period of normal development followed by regression. It affects each girl differently, the spectrum is wide. It is apparently caused by a problem with amino acid processing. There is of course information on the net.

[CathyY]

I'm not qualified to provide input... but boy, she sure is a beauty! I can tell she's related to Adam and Kate! I'm glad to hear she's happy and loving, that says a lot. I'm also pleased to hear she'll be evaluated in SA. The parents deserve professional feedback to put their minds at ease and receive some helpful suggestions, if warranted.

[millie]

I know March must seem like it's forever away right now. I'd definitely include Rett Syndrome, dyspraxia and the autism spectrum in any differential diagnosis/assessment.

What is her joint attention like? Does she triangulate attention around an object and a person? Looking back to the person to 'check in' and focus on the object and person at the same time?

She does look so much like Kate and Adam. Totally adorable.

[Jillian]

Ummmmm.... sounds very familiar with what I'm dealing with right now. I was trying not to be worried, but damn, Google is a bitch. Good thing I have a Ped appt soon. Good luck with whatever it is, and I hope that it's absolutely nothing. All else fails, stay far far away from Google!!!

[Flicka]

No assvice, just lots of prayers and good wishes. If there's anything we can do, please let us know. Maybe a bloggy fundraising drive if she needs?

[shinaidy]

It's hard to say. Regression of speech could be indicitive of an ASD (Autistic Spectrum Disorder) Retts, or PDD. An ASD would have to be coupled with some of the following, poor eye contact, no pointing, isolated play, facination with motion or spinning objects, to name a few. It sounds as she may have some sensory issues in regards to food and/or possibly her walking. It's hard to qualify what your SIL may be dealing with without more information. My son is autistic and has benefitted enormously from early intervention and numerous therapys.

Let her know there is hope and to go with her Mommys instinct. Do not allow them to take a wait and see approach, which I had been recommended to do. Mommy knows best. Her daughter is beautiful.

[artemisia]

I know PDD pretty well, and nothing much about the other possible diagnoses. My son lost his PDD diagnosis at 7 due to intensive behavioral early intervention, so I never want to keep my mouth shut about early diagnosis and intervention if there's a chance it might be PDD.

Three screening items at her age are:

1- Does she point at things in order to show something? (Not pointing in order to get something but to cause someone to look at what interests her)
2- Does she have flexible imaginitive play? (Pretend a block is an airplane and then another time pretend it's a tiger).
3 - Does she have good eye contact?

If an of the answers are no, she might start looking at PDD information.

Here is a link to an article about diagnosing autism (PDD) in toddlers: http://www.jrsm.org/cgi/reprint/93/10/521

My favorite website for parents is http://rsaffran.tripod.com/aba.html.

The early intervention was exhausting, the results are worth it.

Good luck. She can email me if she wants.

[stella]

Sounds JUST like my daughter. We thought she had Cerebral Palsey but she has a thyroid problem. Simple test, easy to treat, she started developing again within a few weeks.
Stella

[Sadye Spirit]

I have a child that is 26 months and is not walking yet. He can cruise and walks a little if assisted, but no self-sustained steps. He also has the delayed speech and eating issues, and so hearing her sysmptoms- a few ideas come to mind.
Of course at this point the DR is the best person to talk to, but she could have VERY mild CP, PDD, this apraxia thing sounds interesting, or she simply could be a developmentally delayed child who needs therapy. From my experience with these types of issues, it just sounds like her child needs therapy. Of course I have no idea how hard that may be in Tanzania, so good luck to her... I hope she is fine.

[jennifer]

My younger son went through a regression period when he was 18 months old after a bed camphylobacter infection. The food issues were the worst for him. We eventually had him assessed at a children's hospital where they told us he was fine medically but needed to be retrained to eat normally. We were told to provide 3 regular meals and 3 snacks per day, with toddler size portions, no liquids other than water or whole milk, absolutely NO JUICE drinks since they don't have protein or fat. Meals and snacks were served at appointed times for exactly 15 minutes. Anything not eaten was removed after the time was up. We did this for a few weeks and it got him used to eating more normally. Variety isn't very important, the nutritional quality of the food matters more. They also told us to give him Ben & Jerry's (super-fatty) icecream and mix cream or half and half into anything you could put milk in. Little kids need the fat and the cholesterol for brain growth. He's still stick thin but he's growing again and he is rarely ever sick.

[Jodie]

Oh wow, lots of good advice but a whole lotta stress, too. Could be any of a number of things, or she's just developing at her own rate. Anyway, she's a beautiful little girl and I'm sure an assessment will be a big help. If she doesn't have access to therapy where she lives there are loads of things she can do at home to help speed things along.

[Anna B]

My gifted son didn't talk until he was 2.5 years old. He skipped first grade some years later.

My daugther didn't walk until she was almost 20 months. She is a furious dancer at the age of 8.

So these things do happen to other kids as well.

However, if she seems to be going backwards, and having a combination of issues that are worrying her mom, having her looked by a specialist is a must. Early invention is important, but a few weeks won't be the end of the world.

Big hug to your SIL, and for her beautiful daughter

[Anna B]

Wanted to add this: your SIL is doing a great job already, asking advice, and making an appointment with a specialist. It only goes to show she is doing the best a mom can do.

[Melissa]

I didn't read all of the posts because I'm at work and have an early meeting. Did have to get in my daily "So Close" dose first though.

Maybe someone already mentioned this, but this sounds very similar to something that my sister and my neice went thru called Infantile Spasms. Although this would seem to be very late onset, the symptoms are similar and two of them in particular really jumped out at me: the not sleeping at night/waking frequently and the 'loss' of previously acquired skills. Here is more information on infanitle spasms:

http://www.epilepsy.org.uk/info/infantile.html

Kloee (my neice) was diagnosed and put on phenobarbitrol (sp?) initially. It was terrible, she seemed like a drugged baby - made my husband and I crazy every time we saw her. She then went to see a specialist in Chicago who put her on vigabatrin (non FDA approved in the states, used in all kinds of other places with great results though!). After 6 months on the vigabatrin she is like a different baby. She'll be a year old March 15th and she is only about a month behind developmentally and physically. She had a great EEG last month, the area that was causing the seizures/spasms has gotten much smaller. They will begin to wean her off of the vigabatrin over the next few months and we will see how things go.

Perhaps it's silly to even suggest this based on the difference in ages and the statistic that 90% of children get it before age one. I did want to share the experience though, we thought it might have been all kinds of other things (autism was a front runner) and things have so far gone much better than expected.

Hugs sent your way, for you and your SIL!

[ls]

I think Amber's mom knows that something is not right and is correct in listening to her instincts. I hope she really pushes for answers to her questions, and is not shunted to the side or told that "all kids dvelop differently" while this is, to some extent, true, there are also parameters of normal that this child is not meeting. I was a late walker, but early talker. Daughter early walker: late talker. Many kids will be accelerated in one area or another. But this little girl isn't on track for either one. I will be thinking or her, and hope all is well.

[Danielle]

I hope that her visit to SA in March provides some answers. If your SIL isn't already doing this, it might be helpful to keep detailed notes or a journal about night wakings, food consumption, activities, etc. so that she can give the specialist detailed info. Having examples written down might also help alleviate the fear of leaving something out. Please keep us posted on the developments. Amber is a darling child, she'll be in my thoughts.

[Silene]

I have nothing to add to the good suggestions and advice above, but just wanted to say that Amber is beautiful, and I will be keeping her and your SIL in my thoughts.

[4katnap]

She sounds a bit like my grand son who has worked his way out of most of teh issues other than the talking. At his 2 yr checkup the DR refered him for hearing tests ( all good) and now for evaluation for early intervention for speech. he has about 4-6 words besides mamma none are understandable unless mom or grandma is there to translate. Cat isn't even clear. So yes get evaluated but don't give up hope. there are things you can do. as foar as teh talking... TAlk more rather than less. She needs to hear words a million times if necessary. She can't learn if she's not exposed. She is BEAUTIFUL!

[Anne]

I also think, from what your SIL wrote, that it would be VERY important for her to mention Rett's Disorder to the doctor, given the regressive quality of Amber's skills. It may not be this, but it would be important to rule it out.

Please tell her good luck....

[Amy Reily]

Just to reiterate what has been said by others, she definitely needs to talk to the doctor about Rett Syndrome. Many of the symptoms she describes (particularly the normal development, and then regression) are hallmarks of Rett's. Good Luck.

[21stCenturyMom]

One more word about Rett syndrome. There was a Yahoo story the other day about how they have found a way to reverse it in mice. This is a genetic disorder and they have no idea how they would apply the work on mice to people but it does offer some hope.

http://health.yahoo.com/news/171835

I hope that isn't Amber's issue but I wanted to offer this article in the event that it is. Looking at her pics it seems not likely has she seems to have good control of her hands and she is a little beyond the normal time when it manifests.

[Cristy]

http://www.medhelp.org/forums/ChildBehavior/wwwboard.html

Here is a site I was given. You have to pay 5 bucks to ask your personal question, but can read anyones. I hope it helps. :(

[M.]

I don't usually write in, but I wanted to say that these are familiar symptoms to me. I work as a Child Development Specialist and Developmental Interventionist, mostly with children with Autistic Spectrum Disorders. I can say that (like all your commenters have already mentioned) these symptoms mentioned by your sister-in-law are very common with children with ASD (or PDD), and that early intervention has been shown to make an enormous difference. I know from personal experience that this is true, because I am sometimes the interventionist working with these kids. It is not uncommon at all for these kids to go backwards developmentally at some point. It can never hurt to get help. But I also feel compelled to mention that, in VERY RARE cases, a regression in developmental skills may be related to more serious neurological distress (i.e. tumor). I'm not mentioning this to scare anyone, I just want to stress the importance of a thorough medical screening to rule out such anomalies. Such issues are much more effectively dealt with when caught early on. As are most issues. I hope the best for all involved--the real work is absolutely to have the biggest love possible for our children, and to remember to share as many pleasurable experiences with them as we can, every day.

[fuzzit]

I like the idea of keeping a journal or record of some things your SIL is seeing at home- this might be very helpful for her dr's visit

[Tracey]

I have known several people who have had their kids do this at about the same age. With them, they noticed that it came soon after their 18 month shots.

One of them got a diagnosis of full-blown autism when he was three. He had been saying single words before the shots, but gradually just faded to the point he would either be unresponsive or scream incessantly.

We happen to have one of the foremost autism clinics in the U.S. here, and one of the things they do is large doses of high-vitamin cod liver oil. After only two weeks of this, he started talking--within a week was combining words and was speaking in sentences in a month; he stopped screaming so much; he started walking again!

This might be something to consider. As long as she isn't getting artifical A or D, the clinic considers it very difficult to get a child to have too much cod liver oil.

Also, I know many people who have seen improvement with things like this after cutting everything artificial out of the diet.

I will be checking back to see how things go. She is such a precious child!