Genetic diagnosis Mucolipidoses: Need a second opinion

Posted by rrmartin @rrmartin, Nov 29, 2021

My daughter just received a diagnosis for a blood genetic condition for my 3 month old grandson that indicates that his life will be cut short drastically. She was told over the phone that his limbs will stop working and eventually his lungs will shut down. All the symptoms he should have, he does not have. I really need help finding a good second opinion as they indicate treatment is not available.

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Oh my gosh, my heart goes out to your family on your grandson’s diagnosis. And what a horribly insensitive person to deliver the news over the phone like that!
By all means, yes, please get a second opinion. Your daughter will want a clinic and medical specialist for her son who has compassion and can instill a sense of hope.

If you’d like to request an appointment from one of the 3 Mayo campuses here’s a link which will take you to the main Mayo site. From there you can either call or request an appointment online. http://mayocl.in/1mtmR63
The coordinator who answers the phone will be able to give you the information to get you started.
While it’s not required it often helps to have a physician’s referral.

If you’re not able to get to a Mayo Clinic, have you considered a larger university/teaching hospital or a Children’s Hospital?
If your grandson has no symptoms how was his condition discovered? Is there a name given to your grandson’s diagnosis? Is there any treatment available?

REPLY

This is a real bugger. I have a number of these. After the initial shock, I decided to check it out. I did the self-paid DNA bit with some labs: Ambry, PLCC, Sequencing.com, AncestryDNA, LivingDNA, etc. I just did some of the single cell stuff, and some of the mini-exome stuff to check the results. Unfortunately, all of them agreed on the deadly stuff and more, but a few added some more deadlies. Then I started looking for things I could do, using suggestions from Sequencing, etc. I have tried to take every suggestion seriously. For instance, one lab said I had a gene that needed turmeric, so I started on that, using plain spice turmeric. I have make real improvement. Anyway, check out your DNA , and just use whatever resources you have that look legit. And don't give up. Right now, I am getting ready for my 54th cancer surgery/procedure. Most of this is basal cell. I also treat my own Clarkson's because I have been told there is no treatment. There is, an arthritis creme with aspirin from Gold. Anyway, keep looking. The worst thing for American medicine now is the disaster of trying to get Whole Genome analysis, covered by insurance.

REPLY
@loribmt

Oh my gosh, my heart goes out to your family on your grandson’s diagnosis. And what a horribly insensitive person to deliver the news over the phone like that!
By all means, yes, please get a second opinion. Your daughter will want a clinic and medical specialist for her son who has compassion and can instill a sense of hope.

If you’d like to request an appointment from one of the 3 Mayo campuses here’s a link which will take you to the main Mayo site. From there you can either call or request an appointment online. http://mayocl.in/1mtmR63
The coordinator who answers the phone will be able to give you the information to get you started.
While it’s not required it often helps to have a physician’s referral.

If you’re not able to get to a Mayo Clinic, have you considered a larger university/teaching hospital or a Children’s Hospital?
If your grandson has no symptoms how was his condition discovered? Is there a name given to your grandson’s diagnosis? Is there any treatment available?

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Thank You for responding. After my daughter was able to process a little, she informed me that the diagnosis is mucolipidosis. There are some questions we have about the efficacy of the test as it was just a generic "fishing" test and not one for that specific ailment. Plus my grandson has no specific symptoms. He is strong, hungry all the time, no pain when touched. He is growing like a week and so happy all the time. He only cries when hungry, which is all the time and when his diaper is soiled. They were looking a some "unusual bone growth" as a reason for testing. These doctors just kept calling us last night with brutal details and an expected lifespan of 3 years over the phone!! To my 23 year old daughter! We have an appointment at the children's hospital in Denver on Wednesday so they can
tell us the same news again. After that, we will be looking for help. Anywhere we can get it. Thank You, I will be in touch looking for a specialist in this field.

REPLY
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