Cerebellum Atrophy

@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.

@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

@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 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'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.

@howardjames I just ran into your input. So sorry for that. three of my sisters and I have brain disorders akin to Howard's, and I have a friend(Alan) a few miles away who has Cerebellar Brain Atrophy with very little time to go. My own family apparently has a form of Amyloidosis which deposits dead protein fibrils in the nerves, including the Cerebellum, causing atrophy and shrinking with pressure. One sister has died, another is very close to it, and a third is a few months off. Less than one person in a million will present this disease each year. Aren't we all lucky! Because I apparently have ACystatin, primary, systemic, hATTR, and leading me into dementia, I read your stuff with much interest. Several others have various protein disease dX, and several have died of this crap. My own med history is at https://bit.Ly/1w7j4j8, Amyloidosis. These are tough disorders, and about all we can do is support one another. So hang in there, friend. We all understand some parts of your struggle, and some things just confuse us.

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.

@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

Hi Liz,
I've removed your home address from the public forum. It is safer not to share personal contact information on a public site. You can send Noreen your postal address by using the secure private messaging. To send a private message:
1. Click on the @username of the person you want to message.
2. Click Send Private Message.

HI Noreen,I have been a bit quiet of late. I think I have joined too many sites and am not keeping up with all of them. I do admire your move. Very brave but the compensation of having family near must give you joy. I don't think I could survive with all the rain and only 4 hours of sunshine in December. My duvet is very snug in our winter and I love a cuddle but your extremes would be too much.

It is a mystery how this cerebral atrophy has such different symptoms in different people. I am dizzy and clumsy and topple sometimes but my speech is not affected yet. We have just started altering our bathroom to create a wet walk-in shower and room will be wheelchair friendly. Thinking ahead.

We have had another blow. My husband has to have a radical bladder removal due to cancer and adjust to a permanent bag. Such a psychological adjustment for him.

I would love to see a postcard.
Best wishes to Howard.
Liz