By Mary Beth Palo
Exactly..... few of us probably know what that is.
How sad, since every parent and doctor dealing with autism should know and be aware of it’s symptoms, it’s presentation and it’s incidence rate in children with autism. Sadly, this is not the case.
The intent of this article is to bring awareness to the existence and prevalence of this malformation, to increase screening, diagnosis and ultimately improve the lives of many children.
So now I share with you my son's story, which includes my never ending lack of confidence in the "system", so try to bear with my sarcasm!
At the age of 6, fully immersed in the world of autism my son was very sick. Along with all of the fun attributes of autism we were dealing with, we were now adding seizures (diagnosed as epilepsy) and some new very bizarre behaviors. This included constantly touching his feet and quacking all day. Yes, quacking like a duck ALL day!
A discussion regarding these behaviors led his neurologist and another specialist to diagnose these behaviors as stims. Peeeelease.....
Beyond skeptical with this interpretation, I turned to my DAN doctor and expressed my opinion. Thankfully he still considered me to be sane and he listened to me and agreed with me. Instead of diagnosing merely based on my verbal explanations, he ordered an MRI. He and I shared the opinion that the other doctors were less than thorough.
After the MRI, Brett was diagnosed with a Chiari 1 malformation.
After he was diagnosed, our DAN doctor advised us to see “the best” doctors in the field of Chiari. Following his advice, we went to the Chiari Institute of New York.
After about a three hour wait, a session with a neurologist and filling out papers, we met with the surgeon. He confirmed that Brett did indeed have a Chiari 1 malformation and reviewed the details and pictures of his Chiari 1 malformation. After this brief confirmation of what I already knew, he said to me “yes he has a Chiari 1 malformation, but I won’t operate on him because surgery is not a cure for autism.” And with that, he walked out the door.
After two weeks of sobbing and basically existing in disbelief as to what actually took place in that office, I came to a realization. He (the surgeon) was wrong! To make a long story short, I contacted our DAN doctor late in the evening. I said to him “he’s wrong”, and he agreed and told me he would be back in touch with me in a little while. Well, within less than an hour, not only was my fabulous doctor back on the phone with me but he had arranged for me to talk with Dr. Neil Feldstein, director of pediatric-neurosurgery at Columbia Presbyterian. Within 3 weeks of that evening, Brett had surgery.
Dr. Feldstein did not know what effect the surgery would have on Brett’s autism. What he did know was that Brett had a brain malformation that needed to be operated on. The deciding factor for us was that there was a very significant chance that Brett was in pain. If Brett was in pain and it could be relieved then we owed it to him to relieve the pain.
The surgery was a success and Brett’s malformation was corrected through a decompression procedure. In my terms, Dr. Feldstein removed some of his skull bone, approximately the size of a woman's fist. This procedure allowed for the proper amount of space for his cerebellum and for the blood and cerebral spinal fluid to flow properly to and from the brain.
We were very fortunate to be a highly successful case. Brett's "stims" disappeared as did his seizures. It was as if Brett had been wearing black opaque sunglasses, they had been removed and the floodgates were opened.
Now, to temporarily interrupt this story, I need to fill you in on what else was happening.
At that time in my life, I was pretty involved in the autism world. I was working with several groups on a volunteer basis. During our meetings we would always discuss what was happening with our children, what treatments our children were undergoing, what interventions we were using and results.
Well, one night at a volunteer meeting, I told this group of people - strangers to me about Brett’s surgery. The parents of five other autistic children were at that table. Of the five children, Three had chiari 1 malformations. None of their children had been operated on. I don’t think this was a coincidence! I later shared this with Dr. Feldstein and he was stunned. He said that the odds of all of these children having a chiari 1 were like a million in one (actually I think it was a higher number). Basically this indicated that many children with autism have this malformation but it is going undiafnosed and untreated!
To date there is no scientific data published regarding the incidence of chiari 1 malformation in children with autism. As a result, awareness of chiari 1 malformations is very low and so is the screening. In my conversations with parents over the years, most of them had never heard of it.
I have spoken with parents whose children have been diagnosed with the malformation but their doctors did not believe that it had any effect on the child. I continue to be amazed by such assumptions. With autism being a neurological disorder, how could anyone assume that something as serious as a brain malformation would be of no significance and have no effect on the child?
Here on Long Island, word of Brett's success spread and many children had the surgery to correct the malformation. I know that some were very successful and that some returned more positive results than others in terms of lessening the symptoms of autism.
I hope that many people read this article and spread awareness. At the bare minimum, all doctors treating children with autism should be aware of the symptoms and prescribe an MRI for screening. Oh - and also have a competent diagnostician reading the results and specifically looking for the malformation.
Please don't think this is a cure - it isn't ! For my son, it was a very big problem. For other children, it may not be. As we all know, autism presents differently in every child.
Indeed, the evidence does indicate that this malformation is a serious medical problem that children with autism may have. For that reason, it should be screened for! In addition, it should be treated. Don't be afraid to ask for screening and get a second opinion!
To briefly update you, ten years later, Brett is mainstreamed in 9th grade. He still has autism but I personally consider him to be 90% recovered. As I said, the surgery is not a cure. Since age 4, I have been teaching Brett through video and during the last 14 years, we have done so much that I am quite sure I don’t even remember all of it. I am very thankful that I had such wonderful doctors who believed in me and who were willing to go against the common beliefs. It takes strength to do that and that is exactly what is required to be a great parent! ..... to any child. Be that “Warrior Mom” as Kim says!
There is a great deal of information on the internet and I encourage you to read up! Here are some links to sites with information on symptoms and treatment.
Mary Beth Palo, Founder of Watch Me Learn Inc., video based learning for children with developmental delays. Public speaker at local and national conferences. Initiator of NY State autism awareness plates and legislation creating Autism Research Fund. Volunteer advocate for national and local organizations. Board positions on local Education and Autism organizations. Parent education and medical advocate. Author of published articles. Mother of 2 children, married and resides in Greenlawn NY with family. Graduate of St. Bonaventure University.