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Genetic diagnosis Mucolipidoses: Need a second opinion
Blood Cancers & Disorders | Last Active: Nov 30, 2021 | Replies (3)Comment receiving replies
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.