Friday, June 12, 2009

Visit with the geneticist at the MIND Institute

John Michael enjoyed his time at the UC Davis MIND Institute this morning while waiting to see his geneticist.
Stacking is a big thing these days. I loved these huge Lego-style plastic blocks. So fun!

Ahhh, our favorite tank engine... Thomas!

Trains, trains, and more trains.

The UC Davis MIND Institute is an amazing place. Architecturally, it's a beautiful building of brick with the inside filled with glass and light beechwood. Artwork from patients with autism spectrum disorder line the walls, all professionally framed. Some pieces are so incredible, they look like master artists painted them and should be found in galleries. The waiting room for children is also very impressive. This place is primarily for children with neurological disorders, such as autism spectrum disorder and fragile X syndrome. However, John Michael's geneticist that he saw a year ago, also has an office here.

Doug and I with John Michael, along with Dr. M and two interns, crowded into the small room. Dr. M was immediately impressed by John Michael, having last seen him when he was four months old. At that time, we had many worries, concerns, and questions over what health issues may arise during his first year. As we all sat down, John Michael smiled, waved and reached to shake hands with her and the interns who were there to observe. He is very social and loves to interact with people. The purpose of the visit was to follow-up from a year ago and to see his development. It was also my one chance to ask an expert's opinion face-to-face about some treatments other parents are doing with their children, such as high doses of vitamins or taking them to the Institutes in Philadelphia, PA.

On high doses of vitamins, she said that there haven't been any conclusive tests to suggest that it is beneficial, but she has some parents that say they've noticed marked improvement with cognitive function and muscle tone. Other parents have said it hadn't had any effect. She said water-soluble vitamins were harmless in high doses, but to be careful for fat-soluble vits that could build up and cause liver damage. I asked her specifically about Nutrivene and she said a colleague of her said it's a balanced vitamin product and could be used.

As for the Institutes, she has heard of it and said it was highly regarded for children who are brain-injured. Down syndrome is a type of brain injury, according to Dr. Dolan of the Institutes and the children are given therapies based on that. Dr. M said that parents who've taken their children there are very happy with the intense therapies and use of oxygen for cell regeneration (I hope I said that correctly).

Even for parents who cannot or would not do the Nutrivene or Institiutes programs, Dr. M highly recommended daily multiple vitamins, such as Poly-vi-sol, for children with Ds. I can't recall specifically the medical reason, but something like their bodies don't absorb nutrients from food as easily. But don't quote me on that!

So, I will do my best to remember to give John Michael his vitamins... because it's good for his cells.

She noted that his height (50th percentile) and weight (75th percentile) are excellent and his head circumferance (3rd percentile) is typical for children with Down syndrome as their heads and brain size are smaller than the general population.

Finally, I asked Dr. M about Mosaic Down syndrome. It's been a question in my head for a long time.
She said that at first glance, she suspected Mosaicism due to his mild facial features. He could have a simple skin biopsy to find out. In the hospital, just after birth, they tested only about 20 cells. With skin cells, it takes about 2 months to grow and test about 100 cells to see if all or only some have the 3rd copy of the 21st chromosome. Of course, if he does have the Mosaic form, she did tell us that nothing technically changes in how we care for him as it is still Down syndrome. It just gives us more information about him. I'm not sure when that'll happen.

We don't need to follow-up with her since John Michael's needs will be taken care of by his pediatrician. But it sure was good to just have an expert take a look and say, "You're doing a great job... John Michael is doing fantastic." Sometimes we just need an extra pat to affirm all the hard work we do. And that was well worth the copay!
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  1. I just love all your pictures you always include! Just to let you know, on July 10-12 at our Down Syndrome Research & Awareness Conference in Cincinnati, OH, the main mDs researcher will be on site and will be conducting a simple skin sample by taking a toothbrush and brushing the inside of the cheek. For anyone who has the diagnosis of Down syndrome, she can still do this and just bill your insurance company.

    We have a fantastic line up of speakers and activities for everyone throughout the weekend. For more information go to

  2. I heard about the mind instute it was on a autism documentry. I have Cerebral palusy and i blog about it i live in ca as well come vist

  3. We saw Dr. M too at the Mind Institute. She is really great. So glad you had a great visit. She too explained to us the process of getting tested for mosaic and it's kind of never ending since you could test cells all over the body trying to "find" mosaicism so we just decided not to go forward with it. It wouldn't change anything and in fact it could "decrease" services or benefits in the future when agencies start getting creative in their ways of cutting back based on diagnosis etc. A T21 diagnosis still ensures some of the best services because it is such a firm diagnosis.

  4. Thank you for posting the info about the vitamins.I had been wondering about the Nutrivene supplement.Sounds like you had an excellent visit!I'm so glad we all have each other to learn from!

  5. I always love looking at JMs photos. He's so adorable and obviously doing very well.
    I'm curious...has he not had the genetic test that determined if he had T21 or Mosaicism?
    Thanks for the additional info about Nutrivene too. I've been researching it myself.

  6. @ Ria: JM was tested at birth with a simple karotype that showed T21. It counts about 20 cells out of the millions in his body. The geneticist said the skin cells are more similar to his embryonic cells that have a higher chance of showing mosaicism with the 100 cells they count. Of course, if those 100 don't show it... when do you stop? Like Jen said, you could keep searching for something that you may think he has when it still doesn't change the fact that they have Ds. Does that make sense? I'm not sure whether we'll do it or not. Still deciding...

  7. This is such an excellent post, thank you for sharing this wonderful information with all of us, especially those of us who can't get to a place such as this...

    I'm so glad Kristy wrote to you too, I was going to suggest being in contact with her either because of your interest in MDS or simply because of the awesome conference this July.


  8. Such interesting information! Thank you for sharing it.

    I'd love to be able to visit such a place as this.

    Tammy and Parker
    @ParkerMama on Twitter

  9. Great update... and great information. Thanks for sharing! And, of course, it goes without saying that the pictures of JM are wonderful :)

  10. Oh, I definitely agree with Jen too that you can keep searching but it won't change the fact that he has DS, which I'm sure you wouldn't change JM for the world. I know I won't change my Matthew for anything.
    I just didn't realize that there was a simple karotype and a more sophisticated test available. Everything during the time Matthew was born is such a blur to me now that I don't remember that being explained to me. So, I appreciate you sharing all this info. It's great!

  11. Great information. Wish there was a MIND Institute around NYC area. Everyone thought the boys were mosaic b/c they have none of the common health issues and are mildly affected in every area (but still affected). But, the hospital test (results took weeks) showed "regular" Trisomy 21 Down syndrome. LOL. I thought the use of the highly technical term, "regular", was funny.

    Oh, I feel a post coming on...

  12. Wow. That's great that your son is on the charts on height and weight. Mine doesn't even make the charts. (He'll be 5 in October) He's just skinny and not terribly short comparatively. Of course, his brother (adopted from ET) doesn't make the charts on height and weight but his head is in the 97th %. Thanks for the info on 'specialist' and on nutrition. I can't get my son to take a vitamin consistently. He does drink pediasure regularly. So hoping he gets enough nutrition that way.

    Thanks for visiting my blog, too.