Cerebral Brain Atrophy: Anyone else out there?

@oldkarl I'm amazed that your family is afflicted with this disease. Is it hereditary? I'm waiting to have genetic testing done. I worry that my children could have this disease too. Can I ask how old you and your sisters are? I am 49 yrs old and am having a hard time accepting the degeneration. I don't know how much time I have left. I have fallen several times and hurt constantly from the injuries. I don't know where to go to get support from others. I feel like I am the only one with atrophy.

@ldrake101 Yes, the degeneration is a rough one. I really hit the big time with degeneration at about your age. Lots of heart trouble, falling, muscle weakness, etc. I am 77 now, and my sisters (there were 6, now 5) clustered around me age-wise. Toughest thing I have had to do was find a doctor who would take this thing seriously. I was quite physically active until about age 45. Half-marathons occasionally, officiate football, backpack, etc. Probably the best support you will get is right here. Mine is hereditary, but it keeps its secrets hidden pretty well. What is hereditary is the fundamental fault in some specific gene that can mutate into some pretty wild characters. The specific mutation, at least for our family, is not spelled out in hereditary, but only the fault that allows the gene to take a flying leap into the mixmaster of a wild world. There, the gene can be mutated by a large variety of triggers which cause the mix master to turn on. Radon, Roundup, carbon monoxide, 2-3-d, DDT, smells, allergies, can be almost anything. My siblings and I grew up in the basement of our home, which was a large reservoir of Radon, and we used a lot of ddt, 2-4d, alfalfa hay, grain, etc. Well, and I kissed a lot of girls in those early years. That may have done it. I don't know. Anyway, I am convince that the best thing I can do is to prepare myself to die. I also have several cancers, including prostate which the doc says will kill me within a couple years. Also stomach, esophageal, skin, etc. My friend Alan, as I mentioned earlier, did not find his atrophy until about age 75. He is still alive, but not doing well. But he has a beautiful wife who loves him dearly. That keeps him going. Well, keep writing, and some of us will try to write some. Send me a direct mail if you like so I will be sure to keep in touch. I live on the Oregon coast, about 100 yards from the ocean, at Yachats.

@oldkarl I know I won't live to see 60. I figure I have 5 yrs or less. I don't want to live with the inability to function or communicate. I am currently using a walker, sometimes a wheelchair as walking is so difficult some days. I lose my voice daily, the longest stretch was for 1/2 hr. I have difficulty swallowing some days. I haven't heard of anyone my age having cerebellum atrophy. The disease has been very progressive this year. I plan to use palliative care services this year. I don't want to be dependant on other people to care for me. By the way, I live near Boston, near the ocean too, but on the other side of the continent. I don't know how to send direct mail.

@ldrake101 Boston! I have not been to Boston for nearly 30 years, but we loved it. We stayed a few days, then went on up into Maine and back through New Hampshire and Vermont. To send a private, direct mail, click on the envelop between the search magnifying glass and the bell. Anyway, You must be about the age of our eldest daughter. She works for BLM, and loves Alaska. Another lives in Phoenix, our son lives here, and the third daughter lives in Texas. I just try to keep going. We will be going to Nashville next weekend for a discussion with ALNYLAM about hTTR and other fatal diseases. You take care, and stay in touch. Karl

@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.

@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

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.

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

I am still living with the disease and it’s wide-ranging impacts on other organs/systems within the body. Mayo Clinic sent me to the NIH Rare Disease program and I am happy to help anyone struggling with the understanding of what to expect from the unexpected way this will impact both patients and those that care for them.

I am still living with this disease and would be happy to help answer any questions you have. I wasn’t given much time (diagnosed at 30 years old) and can shed some light on my experience and those of my caregivers and treatment facilities.