Cerebral Brain Atrophy

Posted by howardjames @howardjames, Jul 12, 2017

Dear Colleen,
Has there been any progress in finding a reason for cerebral brain atrophy. Howard James was their in Jan. of 2015 and was seen by Dr. Matsomoto who gave him about 4 years to live. I have only connected with Liz in South Africa who has been diagnosed with this. Have there been any headway made for a reason for this or any type of a cure or an arrest of progression. He is now walking with a walker but now is beginning to fall even with walker. We are in our home in Homer, Alaska and will be here on a permanent basis.
Noreen ( wife of Howard James)

@lisapraska

Just got a call today from geonomics dept., will hear results on large panel on November 6th, why such a long wait?

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@lisapraska

Just got a call today from geonomics dept., will hear results on large panel on November 6th, why such a long wait?

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Hello Lisa, @lisapraska

It looks like you may have started a post to me. You can try again if you got interrupted.

Teresa

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@hopeful33250, my son’s geonomic results are in from his Large panel testing we have to go back to the Mayo for the results on November 6th, why is there such a long wait? I think the wait is intense and very stressful. Also I was told before the large panel came back, if the results are not good we would be called back to the clinic for the results. This is a very stressful time for our family.

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Hello Lisa @lisapraska

I can only imagine what a difficult time this must be for you and your family. I cannot answer the question as to why the wait is so long. Have you spoke with the department that does the genomic testing? Perhaps they can provide you some reason for the long wait.

I’m going to invite, @colleenyoung, into this discussion as well. Perhaps she can shed some light on this.

Teresa

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@hopeful33250

Hello Lisa @lisapraska

I can only imagine what a difficult time this must be for you and your family. I cannot answer the question as to why the wait is so long. Have you spoke with the department that does the genomic testing? Perhaps they can provide you some reason for the long wait.

I’m going to invite, @colleenyoung, into this discussion as well. Perhaps she can shed some light on this.

Teresa

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They couldn’t tell me anything over the phone.

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@hopeful33250

Hello Lisa @lisapraska

I can only imagine what a difficult time this must be for you and your family. I cannot answer the question as to why the wait is so long. Have you spoke with the department that does the genomic testing? Perhaps they can provide you some reason for the long wait.

I’m going to invite, @colleenyoung, into this discussion as well. Perhaps she can shed some light on this.

Teresa

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@lisapraska

I am sorry for the wait. Could you ask to be put on a wait list in case an earlier appointment becomes available?

Teresa

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@lisapraska

@hopeful33250, my son’s geonomic results are in from his Large panel testing we have to go back to the Mayo for the results on November 6th, why is there such a long wait? I think the wait is intense and very stressful. Also I was told before the large panel came back, if the results are not good we would be called back to the clinic for the results. This is a very stressful time for our family.

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I, too, think that the whole Mayo system does a poor job of pushing the patients’ calendars along. I went there for a two week visit to find the root of my problems, which has been a long term bout with Amyloidosis. I did a few other tests, none of which made any sense to me, but I am not very knowledgeable in these things. After over 100 days of expense and corporate excuses, I finally got to see a hematologist. And almost a year later, I still do not have a straight answer. Hang in there, and be hopeful.

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Hi Lisa,
I’d like to bring @fernandavidigal and @jennsprung into this discussion. They each have a child with rare genetic disorders and have had genomic testing done. They will certainly be able to relate to the stress of waiting for results, and may be able to shed some light on how long they had to wait and how they coped. You might like to read more about these discussions to connect with other parents of children with special needs.
https://connect.mayoclinic.org/discussion/anyone-with-keutel-syndrome/
https://connect.mayoclinic.org/discussion/mother-of-special-need-children-losing-her-mind/

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@lisapraska

Hi Noreen , my name is Lisa, my son who is 5 yrs old and was diagnosed with the same thing just a few months ago, I am trying to talk to someone who knows more about Cerebellar Atrophy, I am just wondering if you could help inform me. Thank you.

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@howardjames , we go back to the Mayo Clinic to find out his Large panel testing results on Nov. 6th, wouldn’t tell us anything over the phone..pretty nervous

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@howardjames , Hi Noreen it’s Lisa Praska, my son who is 5 has cerebellar atrophy, we go back to the Mayo on Nov 6th for his genomic large panel results, he was just in for his yearly eye exam and his vision has gotten quite a bit worse, is this to be expected ?
Sincerely,
Lisa Praska

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Hi Lisa,
I’m sorry to hear that your son’s vision has gotten quite a bit worse. I’m also tagging @pec2884. Liz, has your eye sight been affected as a result of Multiple System Atrophy?

Lisa, I’m thinking of you as you get through the final stretch of waiting for Nov 6.

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@hopeful33250 , Wesley was diagnosed with White-Sutton syndrome, that explains all of the developmental delays, only about 30 people have been diagnosed with this. This is not linked in anyway to the cerebellum. 2 separate issues, still need another MRI to see if there are any changes occurring.

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@lisapraska

@hopeful33250 , Wesley was diagnosed with White-Sutton syndrome, that explains all of the developmental delays, only about 30 people have been diagnosed with this. This is not linked in anyway to the cerebellum. 2 separate issues, still need another MRI to see if there are any changes occurring.

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@lisapraska

Thank you for updating us on Wesley’s diagnosis. While this is a very rare disorder, I do see a Facebook Page which is dedicated to those who have received this diagnosis, https://www.facebook.com/Pog-z-White-Sutton-Syndrome-1185996388101616/. Perhaps you can find some more support there as well.

As I recall, your son has been involved with occupational and speech therapy. Are doctors offering you any other suggestions for coping and addressing his developmental problems?

I would also like to introduce you to our Caregivers’ Discussion group.
@IndianaScott is the volunteer mentor for that group and there is a wonderful group of people who support and encourage each other. Here is a link to those discussions https://connect.mayoclinic.org/group/caregivers/.

Please keep us updated, we want to support you in whatever way we can during this time. Has the MRI been scheduled yet?

Teresa

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We are hoping to get another MRI by the end of the year, so far people that have this do not have any abnormal brain MRI’s. I was pretty disgusted with the Mayo last time, I tried to get my son in to see the neurologist there, because I had an outstanding balance they refused to set an appointment with the neurologist, since when is money so much more important than any human beings health, not just my son. At our hospital here in town we owe them triple of what we owe the Mayo Clinic, and they do not refuse us service.

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@lisapraska

We are hoping to get another MRI by the end of the year, so far people that have this do not have any abnormal brain MRI’s. I was pretty disgusted with the Mayo last time, I tried to get my son in to see the neurologist there, because I had an outstanding balance they refused to set an appointment with the neurologist, since when is money so much more important than any human beings health, not just my son. At our hospital here in town we owe them triple of what we owe the Mayo Clinic, and they do not refuse us service.

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@lisapraska Right, Lisa. That is a major difficulty with going to Mayo. Their finance system is crap, in every way possible.

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