Autoimmune Thyroid Disease

An Unfortunate and Lengthy Adventure in Misdiagnosis

The extermination of the savant

with 3 comments

NEW YORK (CNN) — He’s only 5½ years old, and yet he’s practically memorized the entire New York subway grid.He reads at the fourth-grade level, plays two-handed piano compositions and is better versed than most adults about the Fibonacci code, a complex mathematics sequence.

Dylan loves Italian music and draws pictures that artist Jackson Pollock would be proud of.

He also happens to be autistic.

Gwenyth Jackaway, Dylan’s mother, is a professor at New York’s Fordham University. She’s single but had always wanted to have a child. So she contacted California Cryobank, one of the largest sperm donor banks in the country.

Cryobank doesn’t reveal the identities of donors but allows people to choose based on the traits they’d like their child to have. Jackaway decided on “Donor X” because he appeared philosophical and intelligent on paper. He liked music, loved to travel and had a high IQ and a degree in economics.

What she couldn’t know then is that her son would have autism. So she started to wonder whether Donor X might carry a gene that could have contributed.

The cause or causes of autism are not known and are hotly debated. Most experts believe that genetics are a component, making a child predisposed to autism or responsive to an environmental trigger.

“It’s a combination of being genetically vulnerable and then having some kind of social or toxicant exposure that tips you over,” according to Dr. Gary Goldstein of the Kennedy Krieger Institute.

Researchers have found some genetic areas associated with autism, but it could take years before the gene or genes that cause autism or contribute to it will be determined.

Until then, Geri Dawson, chief science officer for the Manhattan-based advocacy group Autism Speaks, says there’s no way to screen for those genes and prevent them from being passed to a child.

“We wouldn’t be able to screen a donor for autism because we don’t yet know the specific genes that are contributing to autism,” Dawson said. “But there is a lot of research going on, and I would say in the next five to 10 years, we will have identified between five and 10 genes that we know raise the risk for autism.”

Once the autism gene or genes have been identified, it would theoretically be possible to screen for those genes, according to Dawson.

Jackaway says she went into a period of mourning when Dylan’s autism was diagnosed at age 2.

“When you’re handed a diagnosis of some sort of developmental disorder, you have to let go of the child you thought you were going to have,” Jackaway said. “There’s a sense of loss of the child, a grieving process. There’s denial, there’s rage, and then there’s the tremendous sadness, and hopefully you get to a place of accepting.”

Jackaway says she had to accept that “I don’t have that child I thought I was going to have. But I have this child instead, who’s right here in front of me.”

Through a Web site called Donor Sibling Registry, she reached out to other women who used Donor X. She found six families who had used the same donor.

Two years ago, she visited Theresa Pergola in the New York area; she had given birth to triplets using sperm from Donor X. Just minutes into their meeting, Jackaway noticed Pergola’s son, Joseph, 2, exhibiting some of the same behavior as her son.

“He was walking on his toes; he was flapping his hands. There seemed to be eye contact issues,” recalled Jackaway, who immediately suggested screening Joseph for autism.

“She told me that she saw characteristics of autism, and it was very upsetting to me at that time,” Pergola said. “I didn’t know what to expect from that point on. I know I was scared, and she was there to let me know that it was going to be OK.”

Pergola says she was afraid because she had an image of autism in her head and believed her son would be “in the corner and rocking and not talking.”

She says Jackaway reassured her that wouldn’t be the case.

One month later, a test confirmed what Pergola already knew: Joseph was autistic. The diagnosis brought her to tears, and now these two women whose sons share a father were immediately connected by another bond: autism.

“She was terribly upset,” Jackaway remembered. “That moment is a terribly frightening moment. You get handed a diagnosis, and you get handed an entirely new future.”

In six families Jackaway contacted that had used Donor X, three of the children are autistic, and one is showing signs of autism.

But would Jackaway be happier today if there had been a way to screen Donor X for an autism gene?

“I’ve done a lot of thinking about this, and to say yes to that is to say that I wish Dylan isn’t Dylan,” Jackaway said. “I love my son and everything about him, and that means loving his autism also. Loving your children means loving everything about them. Our children don’t have autism; they are autistic. It’s part of who they are.”

There is currently no way to screen for autism, and in a statement, the company said in part:

“There is no current genetic test to detect autism. California Cryobank (CCB) employs one of the most thorough and rigorous donor screening processes in the industry, with less than 1% of all applicants actually becoming donors. The standard CCB procedure for screening donors involves extensive physical, genetic and health screening …”

Since the discovery of autism in some of the families that used Donor X, Cryobank had this to say about his samples:

“… per CCB policy, the donor’s samples were removed from the general catalog. These vials may only be sold to a client who has previously used specimens of this donor and is interested in ordering additional specimens. In this case the client is made aware of the new medical information and potential issues …”

The families don’t blame the sperm bank. In fact, Theresa Pergola says she’s still uncertain about an autism screening process, if and when it ever becomes available.

“It can go either way, on the one hand it could be helpful so that people could make choices about what risks they want to take,” says Pergola. “On the other hand it’s like, what else are they going to screen for, you know? Are they going to screen for certain personality traits? It’s hard to say. It’s really hard to say.” Autistic children linked to same sperm donor

Would it be silly of me to point out that I am not at all surprised that the offspring of a female professor and an economics graduate who likes music and has a high IQ ends up with an autism diagnosis?

Boy, you NTs really want to live in a Brave New World. Says Bev of Asperger Square 8:

It’s the fact that a mother can express such positive regard, and that a child can so clearly have much to offer, far from being a burden on society, and still…this is how the story ends:

“Per CCB policy, the donor’s samples were removed from the general catalog.”

Not just identified or labeled. Removed. As if another child like this one would be unacceptable. For anyone who doubts the implications of potential prenatal screenings, here is a wakeup call. Autism, even “shiny autism,” even when attached to obvious brilliance and supported by a loving and accepting family, is still judged to have no place in the “general catalog” of humanity. The Point of Awareness

No more Vincent Van Gogh, Leonardo Da Vinci, Andy Warhol, Jane Austen, Emily Dickinson, HP Lovecraft, Hans Christian Andersen, Lewis Carroll, George Bernard Shaw, George Orwell, Isaac Asimov, Ludwig van Beethoven, Wolfgang Amadeus Mozart, Bob Dylan, Michael Jackson, Woody Allen, Michael Palin, Alexander Graham Bell, Thomas Edison, Henry Ford, Howard Hughes, Bill Gates, Immanuel Kant, Charles Darwin, Albert Einstein, Isaac Newton… These are just some of the individuals who have been attributed today as having asperger’s syndrome or autism.

What would a world be like without autism? No more inventors, innovators, computer programmers, mathematicians, engineers, doctors, surgeons, artists, designers, composers, authors, actors, geniuses, entrepreneurs. It takes vital little traits from each of these personalities to coincide and produce autism. To exterminate autism, you need to exterminate all the genes that cause autism. Most intelligence genes would be erradicated in one fell swoop. Women who terminate their pregancies because their foetuses have a high chance of developing autism are going to have a big shock when they find that autism or ASDs repeatedly show up in the foetus whenever they become pregnant. That’s going to be a bit of a downer.

What would you have left if you took away all the autistic genes? Builders. Telephone sales people. Jocks. Cheerleaders. Administrators. Soccer moms. Hairdressers. HR managers. Radio Discjockeys. People who get liquored up and go to clubs. Oh my god, the Golgafrinchans! Nooo!

Good luck with the future of the human race. Be sure to preserve a few of our genes so you have something to fall back on when you remember you need some rocket scientists for that moon landing.


Written by alienrobotgirl

11 April, 2008 at 2:29 pm

Posted in Asperger's Syndrome

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3 Responses

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  1. Good to see you posting again.

    How much work was it swapping over form blogger?


    17 April, 2008 at 11:39 pm

  2. Hi Chris

    Not much work at all, wordpress have an automated import that does it all for you. I could have put it live inside 15 minutes if I wanted to.

    The only reason I took so long is that I’ve spent some time revising old posts and adding new categories and tags. Still tons left to do!

    I prefer some of the features like tag clouds, categories, track backs etc, but there are a couple of downsides. It’s hard to bulk manage things in wordpress like adding labels to lots of posts at once. Also, you can’t edit your page template very much, and you have to pay some cash to edit the css. But hey. I’m on my own domain now. 🙂


    18 April, 2008 at 10:00 pm

  3. That is interesting. I may swap over too at some point – blogger gets quite temperamental sometimes……


    19 April, 2008 at 5:36 pm

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