Discussions By Condition: I cannot get a diagnosis.

A little girl called Tara

Posted In: I cannot get a diagnosis. 9 Replies
  • Posted By: Lida FitzGerald
  • February 18, 2007
  • 11:16 PM

Normal birth, Hep b vaccination with no problems. No reaction to vaccinations at 2, 4 & 6 months. Tara saying Mama and sitting up at 6 months. Crawling and riding 3 wheel scooter at 8 months and saying words like dogs name and kids names at day care. Appears quite advanced.

No reaction to vaccinations at 1 yr. Is not walking. Eats with spoon.
Speech at 1yr 3m is very repetitive. Repeats a childs name from day care for 2 wks.
Had fall from dining room chair onto tiled floor and received green stick fracture to wrist. In plaster for 2-3 wks.

Walks only when holding on to things and is unbalanced at 1yr 6m. Has stopped riding scooter for quite a while and has stopped climbing onto things.

Starts to walk unaided at 1yr 6m. Only spoken word is Mama.

2 yrs, very moody and starts to squeal and scream. Doesn’t like to play with toys but likes outside play with water and sand. Stopped eating with spoon and prefers to use hands. Has seen pediatrician who suggests global development delay with soft autistic features. Referred to Child Development Unit. Not achieving anything as Tara spends sessions squealing and uninterested.

Referred to neurological doctors and lumbar puncture reveals low levels of glucose. Diagnosis is “Glucose 1 Transporter Deficiency without Epilepsy”.
hearing, eye sight, MRI, EEG all come up normal.
Tara is started on the “ketogenic diet”. This is to enable her to produce ketones for her brain development, seeing as she is not getting the glucose to the brain.
On the diet, Tara is extremely lethargic. We have to continuously change the fat ratio in her food, as her ketone levels are too high. We were advised to expect a change in Tara within 4 weeks of starting the diet, eg. Her wide gate when walking would change.

No signs of getting better, and ended up getting worse. Found it very hard to get her to do anything, she seemed to regress on the diet.
Paediatrician spoke to metabolic doctor who told him to take Tara off the diet. She had been on the diet for a couple of months.

The week coming down off the diet, Tara was extremely good, almost like someone had given her a boost. She was walking up and down steps unaided, laughing, picking up toys off the floor. After that, she went back to her usual self.

At 3 yrs sleep deprived EEG at Cairns Base Hospital showed Tara was having seizures. These are non clinical seizures where she just stares. She is started on Tegretol to stop the seizure episodes.

3yrs 1 m Paediatrician suggests that Tara now has severe autistic tendencies, and more tests are being arranged

What Tara can do without aid:
Drink from her water bottle, but a bit awkward.

What Tara can’t do:
Eat with a spoon.
Drink from a cup.
Is not toilet trained.
Is not confident in her balance, especially walking up and down steps.
Cannot ride her scooter or bike. Is now scared of these.
Does not communicate, whether it be by pointing, or showing pictures. We know what she wants from the time of the day.

Reply Flag this Discussion

9 Replies:

  • I just got done readind the book 'Immunizations, Reality behind the Myth' by Walene James. VERY awesome, yet scary book. I have this web site in my favorites and I thought I would do a search on vaccinations to see what I could find and your post came up. I wish I had some advice for you. My heart goes out to you and your little girl. I plan to get pregnant in June and I am going to do everything I can NOT to vaccinate. The whole idea really scares me. best wishes,Stacy
    HappyHealthyGirl 26 Replies Flag this Response
  • http://www.amazon.com/Enzymes-Autism-other-Neurological-Conditions/dp/0972591877/ref=pd_bxgy_b_text_b/103-5362296-5245441
    Anonymous 42789 Replies Flag this Response
  • Please get her to a naturopathic or other holistic doctor. This is so sad, and it just doesn't sound like the docs you've been going to have helped her one bit. Please research a therapy called Cranial Sacral Therapy. I have a friend who does this, and I've only done the first level of training. It deals with the cerebral spinal fluid and is a gentle form of massage that changes the rhythm of this fluid. My friend first worked on a severely autistic young boy when he was 4 or 5, and his is now 9 and going to a REGULAR school with no autistic tendencies! This therapy is awesome and could really help your little girl Tara. But it will take diligence and perhaps months of treatments I can't say. I would google this and see if you can find a practitioner in your area. As for vaccinations, I have conflicted feelings about this. On one hand they have done an extraordinary amount of good...but there is that controversy that they contribute to autism. I just can't say one way or another. But I DO believe that autism can be reversed. Look into supplements to help you with this. And diet changes as well (other that the one your docs prescribed). Best wishes.DOM
    acuann 3080 Replies Flag this Response
  • Most vaccines no longer contain thimerisol (the mercury component) and haven't since about 2000. Many never did. Testing by the CDC (I think) has shown that the tiny amount taken in after vaccination was pooped out almost immediately. See www.quackwatch.org for the research sources and scientific explanation for this (and a lot of other good info as well about medical stuff).IT'S NOT THE VACCINES!!!!!My aunt had polio as a small child (before the vaccines). Don't you DARE put your child through that!!! Sorry, but when you talk about NOT vaccinating, you MUST understand what the alternative will be. And don't think it can't happen; polio is still rampant in some communities that refuse vaccination for religious reasons (Amish and Mennonite, but may also be others). We're talking Pennsylvania, Ohio, and other states, not Africa. Don't think your child can't be exposed. There will be similar possibilities for exposure wherever there are large immigrant communities from countries that don't have tight immunization requirements, especially illegal ones or refugees. I'm not sure where you're from (I suspect not America by your writing; maybe England or Australia?). I know England and many European countries have had huge influxes of Middle Eastern and African immigrants recently.If you think your child has been poisoned by mercury, have her tested for mercury. It's a simple blood test your local hospital can do. If they don't find it, it isn't there, and focusing on that will only delay finding the real cause of your little girl's problems.Has anyone looked into the possibilities of lead poisoning? Or a brain tumor? If I think of anything else, I'll post it, but those are the first two that spring to mind. Your pediatrician seems to have a level head (stopping the ineffective diet). Maybe he can help you find better specialists or another lead to check.Hang in there.
    Anonymous 42789 Replies Flag this Response
  • Please do not listen to anything Shula or Acuann tell you. My sister just passed away because Shula and Acuann told her that her doctor was wrong and she did not have a serious condition. Acuann even told her to get acupuncture to get healed. These people are going to be investigated for practicing medicine without a license. Shula and Acuann are specifically wanted in connection with my sisters homocide. Thats right homocide. If she would have listened to her doctor instead of these internet quacks she would still be here today. Rest assured I will do everything in my power to put these two behind bars and shut this website down for good.
    Anonymous 42789 Replies Flag this Response
  • WOW where do I start?? I am at a loss for words.. No one HAS to take the advice that is posted here. As for quackwatch that site is such a joke. If you look deeper into that site that guy doesn't beleive in ANYTHING, not chiropractic, homeopathy, acupuncture, even christianity. If you do a little reasearch on that so called DR that runs the site you will find out that he is being sued, and has had his license revoked years ago! When I seen on his web site that he tells people its OK to consume aspartame, I knew he had to be a fraud. Aspertame is a POISON and shouldn't be consumed by humans. There are MILLIONS of web sites begging people to stop drinking diet pop and anything that contains aspartame, yet there is this ONE web site that says its ok.I also found this on line about him "Why has Stephen Barrett, M.D. focused almost all of his attention on the nutritional industry and has hardly spent time pointing out the billions of dollars wasted each year by consumers on certain prescription and non-prescription pharmaceutical drugs? If he truly claims to be a true consumer advocate, isn't it his responsibility to make sure the big scams are addressed first before focusing on the smaller scams? It's like the government putting all of its efforts going after the poor misusing food stamps while oil companies cheat billions of dollars from consumers with hardly any governmental oversight. Why is there no review of Vioxx on quackwatch? Why is there no mention on quackwatch.org of the worthless cold and cough medicines sold by pharmaceutical companies and drug stores? Hundreds of millions of dollars are wasted each year by consumers on these worthless and potentially harmful decongestants and cough syrups. Why is there no mention on quackwatch of the dangers of acetaminophen use, including liver damage? There are more people who die and are injured from Tylenol use each year than there probably have been in the last decade or more of supplement use. If Dr. Barrett had focused his career on educating people in reducing the use of useless and dangerous prescription and nonprescription drugs (even just one, acetaminophen) he would have helped many more people than attempting to scare people from the use of supplements. Another point I would like to make regarding quackwatch is that Dr. Barrett often, if not the majority of the time, seems to point out the negative outcome of studies with supplements (you can sense his glee and relish when he points out these negative outcomes), and rarely mentions the benefits they provide. A true scientist takes a fair approach, and I don't see this in my review of the quackwatch website. I subscribe to the quackwatch newsletter (which often has interesting information) but there is hardly any mention of the benefits of supplements. As an example, see a paragraph from the August, 2006 Quackwatch newsletter mentioned at the bottom of this page. Bottom line: Overall, Dr. Barrett does some good in pointing out scams in the alternative health field, but, in my opinion, he is not fair and balanced, and he is not a true objective scientist as he claims to be. Someone who has a website specifically tailored for criticism needs to have higher and more objective scientific standard, and Barrett fails in this regard. Check out quackpotwatch.com to get a more open minded view on things.
    HappyHealthyGirl 26 Replies Flag this Response
  • niggle is correct about vaccinations; people nowadays just have no clue about the horrors of smallpox, polio, mumps, rubella, measles and the other infectious disease scourges. and the sad thing is there is little to convince these well-meaning parents otherwise once they have gotten the idea that 'vaccinations are bad' in their head. one can only hope they never have to deal with the guilt of a sick/dead child (and the other sick/dead children infected as a result).as for the original topic, there are some aspects of autism and developmental delay in your description and it sounds that you are doing your best to care for her. in situations such as this it is important to rule out metabolic disorders, including mucopolysaccarhidoses. she may need re-imaging to rule out hydrocephalus, but it sounds like this has been done. have her vision and hearing been checked? the tegretol may be contributing to her recent symptoms and you may need to cut back on it (or discontinue it) as the side effects may be worse than the Absence seizures.wishing you the best.
    Anonymous 42789 Replies Flag this Response
  • Lida, please try to replace the Tegretol! Read up on it, on websites from other countries.Quackwatcher, you're breaking my heart. What would your sister have said about your behaviour? You don't know how many of my friends and family have passed away under registered specialists. Mostly due to stupidity and negligence. Nor do you know how many of my friends and family (and pets) have at the last moment survived due to "quacks", in spite of the damage already done by doctors. But sooner or later friend, we all have to die.
    Anonymous 42789 Replies Flag this Response
  • I think the poster was refering to Shula and Acuann being quacks.. not the website. Internet "doctors" like Shula and Acuann often give folks bad advice and this has often resulted in someones condition getting worse. I am so happy that someone is finally trying to prosecute those two. I have seen many poor folks get talked out of medical care in favor of acupunture or herbal "cures" by these two. And I also believe them to be quacks. I just hope they go to jail for lying to that poor girl.
    Anonymous 42789 Replies Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.