As someone who not only has an "autism" diagnosis,but also has severe GI disease,and has had a build like Josh's,I have a pretty good idea just what he has been going through all these years.In Josh,I see some of the very same problems I have.In particular the chest wall deformity (These are very obvious once you learn how to spot them.),the lack of muscle development,and the tall,skinny Marfan-like build. Like me,Josh is defintely very sick,and like me it would be a mistake to say what he has is "autism".But looking at the comments ,I see nothing about these problems,let alone any mention of conditions that might cause it,just a bunch of off topic drivel, about Nazis and eugenics.
The implication being Josh got this way from vaccines.
Let's look at this statement here:
I was very angered and upset on the days I attended the hearing, to hear Miss Smith say “there was nothing physically wrong with these children” perhaps she needs to see my son and live with what he has to live with.
Josh’s output in his ileostomy bag remains double the daily amount of stoma losses, due to untouchable bowel disease.
I have never had an ileostomy,my GI disease has always been more of the "chained to the toilet" variety,but cases like Josh,prove to me it would just be a waste of time,and effort to get one.As his mother implies about Josh,my BMs are many times the volume of food I eat,and always have.However let me say this, in order to have had an ileostomy,one would certainly have to have seen a gastroenterologist,and probably a surgeon,either of whom may have given you a more precise diagnosis than simply "autism".Ms Edwards implies that,like me,her son had not recieved any treatment for his GI disease.
While it is very dangerous to diagnose someone without seeing them,especially if you are not a doctor,based on my expeciences it is very likely Josh has both megaloblastic anemia,and a homocsyteine disorder,just as I do. Possibly undiagnosed.
Here is what some experts have to say about such conditions:
Less common forms of homocystinuria are caused by a lack of other enzymes involved in processing amino acids. These disorders can cause mental retardation, seizures, problems with movement, and a blood disorder called megaloblastic anemia.
Homocystinuria can be diagnosed by urine and/or blood tests, and should be done on any individual with lens dislocation.
Dislocated lens of the eye (ectopia lentis)
Tendency to develop blood clots (thrombosis)
Failure to thrive in newborns and/or developmental delays
Tall stature with long thin limbs and fingers, chest deformities, scoliosis
Homocystinuria can be treated with dietary modifications and supplements in addition to medications, such as trimethylglycine (betaine) or vitamin B6 (pyridoxine).
National Marfan Foundation
Anemia is a common feature of all megaloblastic anemias. However, most patients are relatively asymptomatic because anemia usually develops slowly. Therefore, the absence of symptoms of anemia does not exclude the diagnosis of megaloblastosis. When a marked decrease in Hgb occurs, patients can present with dyspnea, light-headedness, palpitations, and heart failure. Patients with cobalamin deficiency can present primarily with neurological impairment. Specific aspects of the etiology of cobalamin and folate deficiencies are described below.
When obtaining a history with findings of possible cobalamin deficiency, obtaining evidence of anemia and neurological impairment first is important.Some patients can have gastrointestinal symptoms such as loss of appetite, weight loss, nausea, and constipation.Patients may have a sore tongue and canker sores.Patients may have symptoms of anemia.Early neurological symptoms include paresthesias in the feet and fingers,poor gait,and memory loss.At later stages,patients can have severe disturbances in gait,loss of position sense,blindness due to optic atrophy,and psychiatric disturbances.In some patients,neurological impairment can occur without anemia. Therefore, neurological symptoms may range from mild to severe, and cobalamin deficiency should be considered even with minimal neurological symptoms and the absence of anemia.
In the next phase of eliciting relevant history, obtaining a history that can help distinguish between the causes, such as inadequate diets, malabsorption, medications, and congenital disorders, is important.
A history of folate administration without vitamin B-12 therapy should be documented because folate may partially correct hematological abnormalities but will not stop the progression of neuropsychiatric complications.Dietary insufficiency of cobalamin is a rare cause of megaloblastosis. A history of a long-standing vegetarian diet without dairy products or eggs can suggest the possibility of this etiology.
Pernicious anemia is associated with autoimmune disorders. A coexistent history of autoimmune disorders such as thyroid disorders, type I diabetes, Addison disease, hypoparathyroidism, or autoimmune hemolytic anemia suggests the possibility of pernicious anemia.
A history of a gastrectomy suggests the possibility of cobalamin deficiency. Approximately 3-5 years must elapse for cobalamin deficiency to occur after total gastrectomy and approximately 12 years must elapse after partial gastrectomy.
A history of ileal resection, regional ileitis, and small intestinal lymphoma suggests intestinal malabsorption of cobalamin.
What is homocystinuria?
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form of the condition is caused by the lack of an enzyme called cystathionine beta-synthase. This form of homocystinuria is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases.
Less common forms of homocystinuria are caused by a lack of other enzymes involved in processing amino acids. These disorders can cause intellectual disability, seizures, problems with movement, and a blood disorder called megaloblastic anemia
How many ASD parents talk about seizues in ther kids ? ...
The GI manifestations of megaloblastic anemia have been known for decades,as has the neuropsychiatric manifestations of homocysteine,and folate metabolism disorders.
Celiac disease is a common comorbidity in pernicious anemia,and MB12 deficiency.Disturbances in folate metabolism can lead to "transient" high porphyrins,and tests where all all porphyrins are elevated,as they are with me,and most on the spectrum,usually point to genetic defects,rather than environmental damage as the primary initiating factor.Remember in autsm, it's genes first,then environment.Megaloblastic or pernicious anemia is one of countless diseases found to have mitochondrial dysfunction associated with it.
While homocystinuria,and similar disorders have been shown to have psychiatric disorders,that go along with them,they have not,as far as I know,been officially recognized to include autism,or "features of autism",but a little poking around on the web leads you to the Yahoo! group for homocystinuria,and messages like this
My 9-year-old son is rcently diagnosed with hcu (2 months back) We
reside in India. Until now we were told that he was having Autism,but
now the diagnosis have changed (personaly, i feel like he still has
autism) My doc says hcu has similar fetures like autism. We have
already started on vitamin B6,biotine,folate .......i
i would like to learn more on how to help my son and what to expect on
the road ahead.
I believe the blame for not only informing parents about disorders like this,as well as the blame for not testing the children for such disorders in the first place,lies squarely on the shoulders of their doctors,who are either not aware such conditions exist,or believe they are "too rare" to test children for.Cystic fibrosis,and type 1 diabetes used to be thought of as "rare" too,once upon a time.So these children often only end up with a diagnosis of "autism",and nothing else,just as I did.
Which only leads parents like Ms.Edwards,to go looking for answers elsewhere,answers the antivaccine movement is more than happy to supply.Not all parents are able,or willing to spend the time it takes to investigate alternative explanations,like metabolic disease,and even if they do go to a DAN!,and have the proper tests done,the chances are very good this doctor will go through all sorts of weird theories to blame vaccines.(Perhaps because he knew he coud not do this with me,the DAN! who did these tests on me,just handed me printouts of the results,and had me figure them out on my own.)
Since then,this same DAN! doctor has dumped me as a patient,even though he pretty much told me I was one of the sickest "autistics" he had ever seen.What you have heard is true,many DAN!s do not like to work with adults on the spectrum,they see us as pretty much of a lost cause, either in regards to the autism,or in regards to the "comorbid" conditions.
I must admit I have not been following what has been happening in the antivaxer blogosphere all that closely of late,but things have really gotten out of hand since the Wakefield retraction. Initially I had cast my lot with the antivaxers,because they were the only ones who recognized that serious medical conditions can,and do,exist with autism.Neurodiversity,much to its detriment,has barely addressed this issue,or has completely swept it aside.This is both short-sighted,and a gross mistake,as I will explain.
I am now in total agreement,that what I have,is not "autism".The same can be said for Hannah Poling as well,but far too many people believe otherwise.Reading the DSM-V was a real eyeopener for me.I have become to feel like an old-line conservative,who had cast their lot with the Tea Party movement before learning just how dangerous these people really are,and given the fact that there are those in Washington, who support both the analogy isn't that far off.
If you follow my posts at all here,you will see the over-riding theme here,is that there are serious medical conditions that are lumped under the broad umbrella of "autism",that should not be there.In short,I have come to see autism in the same narrow way the APA,and neurodiversity does.Now that I am largely recovered from my "autism",more educated about all this stuff,and in a far more rational state,I am prepared to take back every nasty thing I ever said about neurodiversity.You guys were right all along as far as to what autism is.
I therefore see it is in everybody's best interest,that we all work towards redefining these genetic,and metabolic disorders as something other than "autism",and I call upon those in the neurodiversity movement to help me do just that.We need to work towards getting a standardized panel of medical tests for those conditions,like folate metabolism,and mitochondrial diseases that can be falsely labelled as "autism",and we need to insist that all parents whose children have been diagnosed as "autistic",and have these problems,have this panel of tests.Not only would getting a more accurate diagnosis be better for these children,but the belief these children both have "autism",and are sick is one of the most powerful weapons the antivaxer movement has.For neurodiversity to deny this,only makes these people stronger.I would be far better to say to these people "We know your children are sick,but it isn't autism,and it isn't vaccines,let's all work together to help you find out just what is wrong with your kids.
We also need to work to change the direction research takes.Up until now,most research in this area seems to start with one of two preconcieved notions.1)That the kids have "autism" as a prevailing codition.The sheer number of different conditions that have been lumped under the banner of "autism" makes this sort of study absurd,and something with the same clinical symptoms,like seizures,GI disease,can have countless different causes.2)The researcher is someone who accepts "autistics" have serious medical problems,but is largely doing this research,to prove or advance their preconceived notions about vaccines,or is associated with an institution,with a strong anti vaccine bias.Both types of research need to be strongly discouraged,and in the aftermath of the Wakefield disaster,at least the latter is starting to come to pass,but we need to do more.
Actively,and vocally working to help prove that autism is nothing to do with severe GI disease, frequent infections,or metabolic disorders,and proving there are other conditions that do,would only help to promote the positive picture of the autism spectrum neurodiversity wants to promote,and would show they truly are concerned about the plight of all disabled persons.It would be a win-win for everybody,except for the most diehard of antivaccine extremists.