Post by Amy Lombardi on Apr 1, 2009 8:19:41 GMT -5
Subject: MRI question
Name: Chris Geer
Date Posted: Nov 24, 08 - 11:06 AM
Email: Click here to Email
Message: As of right now, the only things that have diagnosed our son, Jacob, with Batten Disease are the presence of both fingerprint and curvilinear inclusions in his skin biopsy and seizures that began at age 4 1/2 (will be 6 this week!). His history does not follow a typical Batten child with the fact that he has had so many other things going on since infancy. He never had normal development and has always been globaly delayed. Aside from that he has had other GI and feeding issues and has been tube fed for over 4 yrs. He has had a couple MRI's in the past. His first at 15 mos. old (normal) which is also the time he was diagnosed with Cerebral Palsy. Once his seizures began in Aug. of 2007, he had an MRI/MRS that following Oct. which also read normal. I have to add that as of right now all testing on PPT1, TPP1, CLN3 (with an extended search here), CLN5, CLN6 and CLN8 have been normal. We are about to test CLN10 which will be sent to Germany. The Dr. there in Germany has reviewed some of Jacob's history and finds it very unusual that he has a normal MRI. At the moment he is questioning his diagnosis but that is without the knowledge of the biopsy. So aside from all the bloodwork, we have had numerous Neurologists, a geneticist, Lance and a few other Dr.'s look at the results of the skin and the inclusions are very clear. Have any of your kids had normal MRI's? If so, and you have had them redone over time, have they become abnormal?
Name: Joanna Kerner
Date Posted: Nov 24, 08 - 1:07 PM
Email: Click here to Email
Message: Chris- The father of a batten's child has posted comparison mri(s) on their website blog. Their last name in Smoak, the father's name is Jeff, and his daughter's name is Makayla. You can find them Faces of Batten's Disease. You will be amazed at the changes as the disease progresses. Stay strong.
Name: Peggy D.
Date Posted: Nov 25, 08 - 7:32 AM
Message: Chris,
My son did "well" until a seizure at age 3. Right before that first seizure, I had made an appt with the school because I felt he was too far behind in speech. The school and first neurologist told us Christopher was developmentally delayed, and had epilepsy. The first MRI looked fine (age 3). A subsequent MRI at age 4 also looked relatively normal. Speech continued to decline, and clumsiness followed. A little after 4 years old we received the Batten diagnosis. He only had 2 MRI's after that ( I think at age 5 and maybe 7), and the progression was increasingly significant each time. Diagnosis was done via the skin biopsy showing the fingerprint and curvillinear markings you describe. I dont' know what to say about the other issues your son has had since the young age, but I do know that while the symptoms present themselves very similar in most Batten children, they also present at very different timelines. Some children keep skills much longer than others.
Did you have your blood tested as a carrier? The lab was able to detect my gene very quickly, but it was years later, and new technology that allowed them to find my husband's. Now I don't have a clue how it all works, but maybe it's possible that could be the case and you son may have that same elusive version? Again, that's just something I'm throwing in the air - I don't really have a clue how all that fits in together for the tests. Good luck, and sorry that you, and your son, are going through so much right now.
Peggy D.
Name: Chris Geer
Date Posted: Nov 25, 08 - 1:11 PM
Email: Click here to Email
Message: Thank you for your info Peggy. Jacob is actually adopted so at this time we have not had his Biological parents tested. They are both willing to do so but they live in FL and we are in MI. The Dr.'s have told us that it will not help to test them if we haven't been able to identify Jacob's yet.
Name: katarina calderon
Date Posted: Nov 25, 08 - 9:08 PM
Email: Click here to Email
Message: Our daughter Lulu had NCL2, Late Infantile.
Her mutation was very unique, and as yet unidentified. Because of this, we can neither have carrier testing or in-vitro testing done.
She was completely 'normal' up until 2 months before her sixth birthday, when she had her first seizure. Her MRI was 'normal' too.
For one year she was diagnosed with 'childhood epilepsy'. Then declines in fine motor skills started to happen, a new MRI showed shrinkage of the cellabelum (sp?) and another diagnosis was sought.
She never presented with eye problems, her seizures were well controlled with meds, she kept much of her speech and mobility, but died at the age of 9 from an unstoppable seizure.
I am only mentioning all of this to demonstrate the differences in each Batten case.
Mutations probably play a huge part.
Good luck and stay strong.
Name: Martha
Date Posted: Dec 12, 08 - 8:19 PM
Email: Click here to Email
Message: My son remains undiagnosed. They felt they saw indicators in a biopsy and that the symptons [matched. Then after much testing in the Batten; area and all coming back negative they redid the biopsy and did not find anything. The first biopsy was fuzzy I think. The MRI now comes back with overall atrophy. For awhile they thought it was cerebral ataxia but it is not affecting just the cerebellum. I continue with this group because his progression is similiar but we basically have pulled back from aggressive presuing a diagnosis, the doctors have no where else to go at this time. Martha
Name: Chris Geer
Date Posted: Nov 24, 08 - 11:06 AM
Email: Click here to Email
Message: As of right now, the only things that have diagnosed our son, Jacob, with Batten Disease are the presence of both fingerprint and curvilinear inclusions in his skin biopsy and seizures that began at age 4 1/2 (will be 6 this week!). His history does not follow a typical Batten child with the fact that he has had so many other things going on since infancy. He never had normal development and has always been globaly delayed. Aside from that he has had other GI and feeding issues and has been tube fed for over 4 yrs. He has had a couple MRI's in the past. His first at 15 mos. old (normal) which is also the time he was diagnosed with Cerebral Palsy. Once his seizures began in Aug. of 2007, he had an MRI/MRS that following Oct. which also read normal. I have to add that as of right now all testing on PPT1, TPP1, CLN3 (with an extended search here), CLN5, CLN6 and CLN8 have been normal. We are about to test CLN10 which will be sent to Germany. The Dr. there in Germany has reviewed some of Jacob's history and finds it very unusual that he has a normal MRI. At the moment he is questioning his diagnosis but that is without the knowledge of the biopsy. So aside from all the bloodwork, we have had numerous Neurologists, a geneticist, Lance and a few other Dr.'s look at the results of the skin and the inclusions are very clear. Have any of your kids had normal MRI's? If so, and you have had them redone over time, have they become abnormal?
Name: Joanna Kerner
Date Posted: Nov 24, 08 - 1:07 PM
Email: Click here to Email
Message: Chris- The father of a batten's child has posted comparison mri(s) on their website blog. Their last name in Smoak, the father's name is Jeff, and his daughter's name is Makayla. You can find them Faces of Batten's Disease. You will be amazed at the changes as the disease progresses. Stay strong.
Name: Peggy D.
Date Posted: Nov 25, 08 - 7:32 AM
Message: Chris,
My son did "well" until a seizure at age 3. Right before that first seizure, I had made an appt with the school because I felt he was too far behind in speech. The school and first neurologist told us Christopher was developmentally delayed, and had epilepsy. The first MRI looked fine (age 3). A subsequent MRI at age 4 also looked relatively normal. Speech continued to decline, and clumsiness followed. A little after 4 years old we received the Batten diagnosis. He only had 2 MRI's after that ( I think at age 5 and maybe 7), and the progression was increasingly significant each time. Diagnosis was done via the skin biopsy showing the fingerprint and curvillinear markings you describe. I dont' know what to say about the other issues your son has had since the young age, but I do know that while the symptoms present themselves very similar in most Batten children, they also present at very different timelines. Some children keep skills much longer than others.
Did you have your blood tested as a carrier? The lab was able to detect my gene very quickly, but it was years later, and new technology that allowed them to find my husband's. Now I don't have a clue how it all works, but maybe it's possible that could be the case and you son may have that same elusive version? Again, that's just something I'm throwing in the air - I don't really have a clue how all that fits in together for the tests. Good luck, and sorry that you, and your son, are going through so much right now.
Peggy D.
Name: Chris Geer
Date Posted: Nov 25, 08 - 1:11 PM
Email: Click here to Email
Message: Thank you for your info Peggy. Jacob is actually adopted so at this time we have not had his Biological parents tested. They are both willing to do so but they live in FL and we are in MI. The Dr.'s have told us that it will not help to test them if we haven't been able to identify Jacob's yet.
Name: katarina calderon
Date Posted: Nov 25, 08 - 9:08 PM
Email: Click here to Email
Message: Our daughter Lulu had NCL2, Late Infantile.
Her mutation was very unique, and as yet unidentified. Because of this, we can neither have carrier testing or in-vitro testing done.
She was completely 'normal' up until 2 months before her sixth birthday, when she had her first seizure. Her MRI was 'normal' too.
For one year she was diagnosed with 'childhood epilepsy'. Then declines in fine motor skills started to happen, a new MRI showed shrinkage of the cellabelum (sp?) and another diagnosis was sought.
She never presented with eye problems, her seizures were well controlled with meds, she kept much of her speech and mobility, but died at the age of 9 from an unstoppable seizure.
I am only mentioning all of this to demonstrate the differences in each Batten case.
Mutations probably play a huge part.
Good luck and stay strong.
Name: Martha
Date Posted: Dec 12, 08 - 8:19 PM
Email: Click here to Email
Message: My son remains undiagnosed. They felt they saw indicators in a biopsy and that the symptons [matched. Then after much testing in the Batten; area and all coming back negative they redid the biopsy and did not find anything. The first biopsy was fuzzy I think. The MRI now comes back with overall atrophy. For awhile they thought it was cerebral ataxia but it is not affecting just the cerebellum. I continue with this group because his progression is similiar but we basically have pulled back from aggressive presuing a diagnosis, the doctors have no where else to go at this time. Martha