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A huge loss in the scientific community looking into autism

June 22, 2012

Guest blogger & TACA Physician Advisory:  Dr. Elizabeth Mumper

The mother was beautiful, smart, and resourceful. She dedicated most of her life to the care of her son who had autism. Her voice cracked during her phone call when she told me, “my son died during the night.”

Her son was 20 years old. He had a severe reaction to the DPT vaccine when he was 18 months old, and as a result he was airlifted to the closest university medical center. Within days he regressed into autism. Over the years he developed horrible seizures, which were difficult to control despite a series of anticonvulsant medications, targeted nutritional interventions and ultimately the implantation of a vagal nerve stimulator in his chest.

The family was devastated and I felt powerless.

Thoughts swirled in my brain about what had happened (I suspect he had a prolonged seizure in his sleep and developed hypoxia) and why bad things happen to such good people (I don’t know). In the chaos of trying to help the family cope with such overwhelming emotions, I got the idea that maybe something that could help another family might result from studying his death. I approached them about contributing his brain for research. In the midst of the most devastating time a parent can endure, they agreed.

More chaos ensued as we contacted the University of Maryland Tissue bank, the local pathology department, and the funeral home to make all the arrangements. Time was of the essence, to prevent post-mortem changes from interfering with the information that could be learned from his brain.

A few days later I went to his funeral, where bright balloons were released into a beautiful blue sky to commemorate his life. That was over 3 years ago.

This June, a freezer malfunction at a Harvard-affiliated hospital severely damaged one-third of the world’s largest collection of autism brain samples, which were owned by Autism Speaks. (1) Other brains in the collection were from patients with Parkinson’s, Alzheimer’s, or schizophrenia. Somehow, the high-tech security system designed to protect this precious collection failed in the most perfect way. Neither of the two alarms in the security system sounded as the temperature rose by nearly 90 degrees from a polar freeze to a chill you can find in your refrigerator. Meanwhile, the external thermostat checked daily by staff inaccurately reported the expected, not the actual, temperature.

Direct neuroanatomical research is an integral component of autism research as a whole, yet as this incident demonstrates in such a devastating way, it is also vulnerable.

Carlos Pardo is a neuropathologist at Johns Hopkins. I first learned of his vital contributions to autism research when I read the so-called Vargas paper, which demonstrated neuroglial activation in the brains of people with autism. I heard Diana Vargas present the paper during a meeting at the National Institutes of Health when I was working with a group on environmental causes of autism. Their work, based on pathological studies of brains obtained from people with autism, changed the way I viewed autism and has played a crucial role in the way we have presented the paradigm of autism as involving a complex interaction between the immune system and the brain. I show Dr. Pardo’s slides in many of my lectures.

Dr. Pardo was quoted as saying “The damage to these brains could slow autism research by a decade as the collection is restored”. Dr. Francine Benes, director of the Harvard Brain Tissue Resource Center, said “This was a priceless collection.’’

I think not only of the lost opportunities for research, but of the family stories behind each one of those brain samples, belonging to real people who had autism. I think about how each family who contributed to the brain bank made decisions for the greater good at a time of great personal suffering.

An investigation is underway.

Author: Elizabeth Mumper, MD Founder, Rimland Center

Reference:

http://www.boston.com/news/local/massachusetts/articles/2012/06/11/freezer_failure_at_brain_bank_hampers_autism_research/

13 Comments leave one →
  1. June 22, 2012 9:51 am

    This just makes me heartsick. Such a huge potential contribution to autism research so suddenly aborted. Stories such as this one, the ones that reflect the incredible sacrifice of families in mourning on behalf of our entire community, just makes it that much harder to swallow. Informative, IMPORTANT post. Thank you.

  2. June 22, 2012 10:16 am

    As a family member that has been contacted in this matter, my brother was a donor to the Autism Tissue Program upon his death in 1999, and we have been assured the donations affected have been utilized in a variety of ways prior to this unfortunate incident. It is something that we as a community should be very concerned about and also wonder why there isn’t more support from our federal government in funding such projects to ensure these types of incidents do not transpire. We have hopes they will not step up a see there is more need for support of these programs financially.

    This additionally brings to light the need for us as a community to think about these invaluable programs and what they will one day hopefully do which is to give us a answer to what is causing autism and what can be done to assist those living with the disorder if supports are needed. We also feel as parents of a child that was vaccine injured, that this research within pathology will one day too make the connection between environmental factors causing the epidemic increase in autism we see today. As supporters of the Autism Tissue Project since 1998, we were devasted when we heard this news, but also know the researchers involved in this project. We as a family were contacted in a very short time and assured this matter was being investigated in a way to not only give us answers on the how this happened, but to also allow us peace of mind in knowing this will not happen again due to the investigation.

    We would urge families to think about registering for these programs and not let this incident deter you from doing so. We know my brother’s donation, as an individual living with AS and Epilespy, has been utilized in at least six studies that have given us some answers as a community thus far. We will continue to support the ATP and would urge others into thinking about doing so as well and to not lose confidence in programs where much research is needed and can assist many of our loved ones living with autism and other neurological disorders.

    We would also like to express appreciation to Dr. Mumper for addressing this matter and informing our community of what has transpired. It is important that we know and also understand what is happening within research and how we too as families can assist. We know for us, it has given us great comfort to know that even in passing, my brother did as he did in life, helped others and to advocate for change.

    Respectfully,
    Carolyn Gammicchia
    Sister of donor Mark Coriaty
    Mother of Nicholas who is living with autism
    Registered supporter of the Autism Tissue Program

    • June 22, 2012 12:52 pm

      Carolyn,

      I totally agree. This loss is HORRIFIC and it needs to be investigated.

      We still need to pursue this important research. I support these incredibly vital research.

      What is baffling me is how something this valuable slip thru 24 hour security and monitoring. If guards are there 24 hours wouldn’t they notice it is a bit hot or see a temp gauge? It seems beyond careless. I am anxious to see the outcome of the investigation.

      All my best,
      Lisa

  3. Dawn Loughborough permalink
    June 22, 2012 12:07 pm

    Thank you for this information. It is such a tribute to donate to science and thinking of the tremendous give back to society. My son also had an adverse event following his 4th DTaP shot, was left temporarily paralyzed on his left side and swelling which led to high fever, screams and seizures. Two weeks after he slipped away into Autism. I have worked with integrative doctors to recover him and he is very well at age 12 now. These journeys are so tough. I work every day like many to bring about mindful reflection on causation and appreciat everyone who has been touched. I can only imagine the repeat of suffering from this great loss due to the refrigeration malfunction. I am so sorry and send my love to the families.

  4. John Fryer permalink
    June 22, 2012 3:16 pm

    We have at least two different people specifying VACCINES as the cause for some types of AUTISM.

    We also have the LOSS of brain samples which as one person tells us have been kept for much more than ten years.

    Long enough surely to have used them.

    Personally the use of brain samples to study DNA is as futile as the stupidity of the loss in a manner which would be IMPOSSIBLe to imagine for any COMPETENT, INTELLIGENT or even SANE person to their own deep freeze at home.

    I have watched so called experts in the UK when they nearly destroyed the sheep in the country when they examined a BOVINE sample and thought the OVINE population had the same illness as Mad Cows.

    Vaccines STILL contain brain destroying THIMEROSAL and Dawn’s reference to harm from the FOURTH use of a vaccine only empasises the also LOST knowledge from the DEATH of Professor Charles Richet on ANAPHYLAXIS.

    ANAPHYLAXIS is now all but DENIED as a side effect of a vaccine by the same experts that can lose samples in a deep freeze while TOTALLY confident that a DEEP FREEZE is still in its deeply frozen state.

    COMMON SENSE in experts is evidently still very much DEEP FROZEN.

  5. Becky Rubens permalink
    June 22, 2012 4:38 pm

    Thank you for sharing the “human” side to this, and how each specimen was a person who was loved and whose families made a wonderful yet painful sacrifice to give such precious gifts.

  6. Janet Presson permalink
    July 16, 2012 4:22 pm

    We had always planned to donate our son’s brain is something were to happen to him. However, now I will not. If their supposedly foolproof system can fail this profoundly, then what in the world makes us think they won’t allow it to happen again. Not with my beloved child’s brain! Besides, I really doubt this was an accident…..

  7. Donna Cox permalink
    July 16, 2012 4:33 pm

    Can’t stop the tears, seems every step forward is followed by five steps back. Our beautiful, profoundly autistic son also has severe seizures, and we try to prepare ourselves for the likely end. It’s just not fair that all of this research was lost. We need answers and we need them now.

  8. July 16, 2012 4:33 pm

    This is as disturbing as it is heartbreaking.

  9. July 16, 2012 5:01 pm

    My heart hurts for all of the families who feel a sense of loss once again. I’m optimistic that their contributions were not made in vain. Indeed, federal funding should be appropriated to this vital research.

  10. cynthialara2004@yahoo.com permalink
    July 16, 2012 7:56 pm

    What a coincidence! NOT!

  11. July 16, 2012 8:50 pm

    My heart also goes to the families. One of my friends here in Dallas also lost their son with autism at about the same age with unknown cause, but it looked likely that it may have been a drug reaction. Maybe we should take this moment and think how we may also learn a lot if we were collecting other tissues, too, like glands and kidneys and liver and intestines and other things that would demonstrate autism as an all-over-the-body disorder. I hope, if given the opportunity, Dr. Mumper, that you will advocate for that.

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  1. Top 2012 TACAnow blogs « Lisa Ackerman – Real Help Now

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