May 16, 2012

Is your child undiagnosed?

8 month-old baby Bertrand.
Extreme cuteness may also be a symptom.
Since the identification of Bertrand's NGLY1 mutations, researchers are hoping to find/test previously undiagnosed children for the same condition.

potential N-glycanase enzyme treatment has been identified.

I need help finding undiagnosed kids fitting this profile. Matching kids may be eligible to receive a test for this newly discovered genetic (NGLY1) disorder.

The salient features are:
  • Developmental delays
  • Involuntary movements starting in infancy
  • Liver dysfunction detected in infancy- elevated transminases and AFP, all normalized at this time
  • Myoclonic seizures starting in infancy
  • Lack of tears
The presentation of kids with NGLY1 mutations may vary with severity.  Both Bertrand's mutations are located toward the end of the gene, so he may actually be one of the less affected.

The undiagnosed children may have been extensively tested for congenital disorders of glycosylation and lysosomal storage disorders, returning normal results.

Thanks for any help you can provide!

6 comments :

  1. Hi there!
    Our daughter, Mabel, is 2 years old and undiagnosed. I'm so glad you posted this! She currently has all of the symptoms except for her liver appears fine as of now. She has severe myochlonic movements and seizures almost constantly. She doesn't sit up on her own, cannot eat well on her own(g-tube fed), doesn't roll over and has severe vision impairments. There are a handful of other symptoms as well. Currently we are running through a list of tests before we start the whole genome sequencing. I am going to read more into your site and if you'd like to get in touch please visit ours as well...
    www.rameelinlarson.com

    Ramee

    ReplyDelete
  2. Can you please tell me a bit more about how this disorder presents and affects Bertrand? Does he have any form of choreo athetoid movement or constant movement? Thank you so much. I'm so pleased that you have found answers. Regards, Mary-Louise

    ReplyDelete
  3. Our daughter went a long time without a diagnosis. We finally have one now. Ashleigh has Spastic Paraparesis, which is a neurological disease affecting her muscles. She will end up in a wheelchair later in life. We are not sure when.

    We know how it feels not to have a diagnosis for a long time. I want others to know to not to lose hope. It may take awhile, but it will happen.

    ReplyDelete
  4. Ramee - I will be in touch soon!

    Mary-Louise - Bertrand's movements have evolved over time. Tremors and hand-wringing, to writhing and chorea, to now choreo-athetoid stereotypies (the movement worsens with excitement/interest). There is still almost like a small current running through his body--he is almost never really still.

    Blessed x3 - Yes, having an answer/diagnosis gives one a foe to attack head-on! And something to fill-in the blank on all the stupid medical forms. ;)

    ReplyDelete
  5. A friend shared your recent blog post with me, and I am so glad we found you! My daughter Jaden is undiagnosed and we are waiting for the full genome sequencing at Duke (Dr. Jiang). Jaden is almost nine and has been tested for thousands of things, seen dozens of doctors, and had her blood work studied all over the country. No answers. The best answer they can give us is that "she has a genetic disorder so rare that it has not yet been discovered." Keppra successfully controls her seizures, but she does not talk, sit up on her own, and has no tears. We blog at http://www.role-reversal.com about our adventures and desire to give her the best quality of life possible. Thank you for your quest to help your son and other children like my Jaden.

    Sincerely,
    Melissa Richards

    ReplyDelete