Today I returned a telephone call to a woman who's cousin's 7 month old son, Ben, has been displaying possible symptoms of a neurometabolic disease. You know, darting eyes, not rolling over, trunk weakness. He went to a neurologist yesterday and they discovered a cherry red spot, a telltale sign of neurometabolic disorders like Tay-Sachs, Niemann Pick, Sandhoff or any of the other lysosomal disorders. The doctor told the family to go home, wait for the geneticist appointment in "two-ish weeks" and enjoy their baby because the prognosis looks grim.
Am I wrong in believing that the time to act for this child is today? Two weeks to start the genetic testing process for a child with a neurometabolic disorder? Go home, enjoy your baby? Every second counts when a baby is declining neurologically! And there are several treatments available for children with rare diseases such as enzyme replacement therapy. Each symptom and each little decline that sets in in most cases is permanent. The key to stopping any progression in a neurometabolimic disorder is to act fast and treat as quickly as possible.
Children who have life threatening and fatal diseases should not have to wait weeks for an appointment and then begin a new round of testing to determine exactly what disease is facing their child. The family also needs counseling services and needs to begin to prepare themselves for the fight of their lives.
Stephanie Lyn
The Hide & Seek Foundation for Lysosomal Disease Research
http://www.hideandseek.org
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Cherry Red Spot is a telltale sign...
- By StephLynStill
- Posted March 4, 2009 at 10:35 pm · 7 replies
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- By NGlassman
- Posted March 5, 2009 at 6:50 am
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Stephanie,
I have yet to meet a "Niemann-Pick" family who received a diagnosis and adequate information quickly. The cherry red spot ID, the liver biopsy, the genetic counseling, the DNA analysis looking for the mutation... each of these things seems to involve an excruciating wait. In the case of Niemann-Pick A, there was no treatment and we were left to just enjoy this baby. And, we found mo medical professionals (in a metro area of 1.5 million people) who had ever seen NPA/B. For families where treatment is possible, all of this waiting is indeed precious time lost. I think it's important to be a little pushy to move things along more quickly.
- By Kim
- Posted March 5, 2009 at 9:45 am
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Hi Stephanie,
In all likelihood the cherry red spot is indicative of a lysosomal disease without an intervention but waiting two weeks to even start the testing process is poor medical practice. Maybe the cousin can call the doctor on behalf of the parents and insist on an earlier appointment. Also, if this is the advice the parents are getting at this early stage it sounds like they'll need to find a better doctor for the long-term.
Please let me know if I can do anything to help.
Warm wishes,
Kim Kubilus
800-906-8723
www.ntsad.org
- By thedangerous5
- Posted March 5, 2009 at 10:09 am
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Stephanie,
Definitely suggest they get pushy about getting the testing done sooner, especially since there will certainly be a wait time for genetic testing results to come in.
Also, I agree with getting a better, more specialized doctor for the long term. Look for a pediatic neurologist that specializes in Neurometabolic disorders.
Take care,
Miriam
- By tdhssp
- Posted March 5, 2009 at 11:30 am
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Honestly, ALWAYS follow your gut instinct and if it does not sit well with the family to wait, tell them to push. The phrase, "the squeeky wheel gets the grease" is accurate! Be kind and respectful, but firm in pursuing concerns.
God Bless!
Velvet
"Samantha's Syndrome"
http://www.tetrasomy18p.ca/
- By StephLynStill
- Posted March 6, 2009 at 10:35 pm
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I was called by Ben's cousin today. They were able to get him into a top lysosomal disease doctor yesterday by knowing what they were talking about, what they wanted and why it was important that Ben be seen right away - and by insisting. Now, they are waiting for initial blood tests results. :)
xoxo
s
- By thedangerous5
- Posted March 7, 2009 at 9:08 pm
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Glad to hear that he's in the hands of a specialist and that testing is started...
- By VES
- Posted March 9, 2009 at 9:00 am
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Good for them! Be active about medical care and the doctors might actually do something.
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