I met with Dear Son's geneticist last week. Previously, as I reported here, he had listed Dear Son's diagnosis as Partington's Syndrome which was caused by a mutation of the ARX gene. Since that time, they have learned a little bit more and they have dropped the Partington's Syndrome from his diagnosis. His diagnosis is "Cryptogenic Infantile Spasms caused by the ARX Mutation"; they do not have a formal name for it as of yet so this is simply how they have described the diagnosis. As he explained, the reason for the cryptogenic part is that frequently the seizures do not initially show up on the EEGs however at some point, the EEGs will get progressively worse until it will show that they are seizing all the time. The reason for dropping the Partington's Syndrome had to do in part with the dystonia-upon further examination, the hand movements are not dystonic in nature but different. I can't recall the precise term that he used however it he described it to the other two physicians that were present in our visit as a twisting backward of the hand/wrist. The picture above is an example of the unusual positioning of his hands and when his arms are down, the left wrist will remain flexed as positioned above but twist backward. Two years ago, we met with the geneticist and a movement expert and they videotaped Dear Son at Big Academic Medical Center to document the hand movements in particular that are unique to the ARX mutation. This videotape is still used today to educate other physicians on this disorder. I signed a new consent form so that this could continue to be shared and distributed.
He has also shared with me that in the total knockout cases of the gene, those boys are born without any testosterone. At the present time, there are only two places in the U.S. testing for ARX at the present time, Boston and Chicago. See the link above for more information on where you can get tested.
As I recall, there are still less than 80 cases total that the geneticist is aware of with the ARX gene however eight of the last ten cases tested positive with the same gene pattern as Dear Son. This brings the total number of cases for Dear Son's gene pattern to 13 or 14 cases.
6 comments:
I don't know how to comment on this other than to say that you and Dear Son are much loved, which I hope you already knew anyway. :)
Be well, my friend. It's always good to hear from you.
You are so amazing in that you continue to think of educating others while you are dealing with this extremly difficult situation... I respect that so very much... Thank you for sharing so much of yourself and dear son with us. He is beatiful!!!
hi dream mom,
I am a NICU nurse in California and am taking care of a newborn boy that has recently been diagnosed with ARX mutation. I came across your website when trying to research this diagnosis. I commend you for all of your postings on the website. So far i have only found jargon on the internet..its nice to have something i can actually interpret! Do you have any related links that i can read about to find out more? I am trying to learn and help, more than anything, to see if i can help to get him home with his family as soon as possible. Any info would be great!
Thanks!
For more information, click on "here" in the second sentence of the post. In that post will be a link to the geneticist. You can e-mail him for more information. If you need more than that, e-mail me at dreammom90@yahoo.com
I came over to view your Tablescape Thursday and discovered you and your sweet son. I am sure it is not easy at times, but the love is always there. All my best!
Cathy
I come from a family with four males affected by the ARX mutation, two brothers and two adults. I am not a carrier and am blessed with two boys and a girl. I have learnt so much from living with my brothers. Unconditional love, accepting people as how they are, compassion, and absolute gratitude for life. I wish you all the best and am thinking about you son.
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