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My son has a mutation in his gene snx27

Posted by kdoggg333 @kdoggg333, Apr 22, 2016

My son has a mutation in his gene snx27
Two changes in this gene from mom and from dad

We are dying to get any information on this whatsoever was just discovered by the Exome sequencing test

Thank you

Kristi osborn

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Moderator
Colleen Young, Connect Director | @colleenyoung | Apr 22, 2016

Hi @kdoggg333, welcome to Connect.
Here's some information from Mayo Clinic's Center for Personalized Medicine and the work we are doing in whole-genome sequencing http://mayoresearch.mayo.edu/center-for-individualized-medicine/clinomics-program.asp

Was your son's mutation discovered by exome sequencing? How does this mutation affect your son?

REPLY
1 reply
snx27mom | @snx27mom | Jul 16, 2021
In reply to @colleenyoung "Hi @kdoggg333, welcome to Connect. Here's some information from Mayo Clinic's Center for Personalized Medicine and..." + (show)
@colleenyoung

Hi @kdoggg333, welcome to Connect.
Here's some information from Mayo Clinic's Center for Personalized Medicine and the work we are doing in whole-genome sequencing http://mayoresearch.mayo.edu/center-for-individualized-medicine/clinomics-program.asp

Was your son's mutation discovered by exome sequencing? How does this mutation affect your son?

Jump to this post

My son was found to have the same genetic mutation. He has terrible pain and muscle weakness. They thought he had muscular dystrophy, then mitochondrial disease. No one has been able to help him so far.

REPLY
1 reply
Amanda Roe | @amandajro | Jul 16, 2021
In reply to @snx27mom "My son was found to have the same genetic mutation. He has terrible pain and muscle..." + (show)
@snx27mom

My son was found to have the same genetic mutation. He has terrible pain and muscle weakness. They thought he had muscular dystrophy, then mitochondrial disease. No one has been able to help him so far.

Jump to this post

Hello @snx27mom and welcome to Mayo Clinic Connect. Thank you for joining this discussion and post by @kdoggg333 so that you may be a support system for one another as you both journey to find answers for your respective son.

Can you share a bit more about your process so far and where things have left off in terms of communication from your doctor(s) you've been working with?

REPLY
snx27mom | @snx27mom | Jul 16, 2021

We spent 5 years at Valley Children's Hospital in out patient Rheumatology, Neurology, Naphrology and Genetics. Then they thought my son had mitochondrial disease. He was urinating blood around that time. They put him on high doses of levocarnitine. In 3 months he gained 30 lb. Prior to the levocarnitine he was very, very thin. After the levocarnitine he started having high BP and developed an irregular heartbeat. I took him off the levocarnitine. VCH referred him to UCLA. That's where he had a second genetics test. There they found he had SNX27 gene mutation. The resident who told us seemed very excited. Said we'd follow up in a year. Then covid happened and we never heard from them again. My son has such bad pain he has been treated for suicidal ideation. I took him to get Ketamine therapy locally because he told me he was going to hang himself outside on the backyard swing. Since his 6 sessions of ketamine 18 months ago he has not been suicidal but continues to have severe muscle weakness, difficulty walking, peripheral neuropathy and while he used to have flat feet, he suddenly has extremely high arches. No one has answers for us. Seems like no one cares. His counselor told me I cannot allow him to b in pain. But doctors refuse to give him anything but gabepentin and nails that don't work. So he just cries. I remember him being 3 and refusing to walk cause his legs were already hurting. He saw a psychiatrist at UCLA also. Very nice guy. I have volumes of medical info. But no answers.

REPLY
1 reply
snx27mom | @snx27mom | Jul 16, 2021
In reply to @snx27mom "We spent 5 years at Valley Children's Hospital in out patient Rheumatology, Neurology, Naphrology and Genetics...." + (show)
@snx27mom

We spent 5 years at Valley Children's Hospital in out patient Rheumatology, Neurology, Naphrology and Genetics. Then they thought my son had mitochondrial disease. He was urinating blood around that time. They put him on high doses of levocarnitine. In 3 months he gained 30 lb. Prior to the levocarnitine he was very, very thin. After the levocarnitine he started having high BP and developed an irregular heartbeat. I took him off the levocarnitine. VCH referred him to UCLA. That's where he had a second genetics test. There they found he had SNX27 gene mutation. The resident who told us seemed very excited. Said we'd follow up in a year. Then covid happened and we never heard from them again. My son has such bad pain he has been treated for suicidal ideation. I took him to get Ketamine therapy locally because he told me he was going to hang himself outside on the backyard swing. Since his 6 sessions of ketamine 18 months ago he has not been suicidal but continues to have severe muscle weakness, difficulty walking, peripheral neuropathy and while he used to have flat feet, he suddenly has extremely high arches. No one has answers for us. Seems like no one cares. His counselor told me I cannot allow him to b in pain. But doctors refuse to give him anything but gabepentin and nails that don't work. So he just cries. I remember him being 3 and refusing to walk cause his legs were already hurting. He saw a psychiatrist at UCLA also. Very nice guy. I have volumes of medical info. But no answers.

Jump to this post

*NSAIDS not nails.

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