Posted on 03/03/2005 12:53:29 AM PST by lbmorris11
http://www.rettsyndrome.org/
My daughter Gabriella was diagnosed with Rett syndrome today. The two links explain what it is technically better than I can. The symptoms are regressive. They begin rapidly regressing at age 2 my daughter is 20 months. After regression their is little to no motor skills and communication along with severe retardation. This all seems to be caused by lack of a protein called mecp2. They are beginning to experiment on mice. Knowing the FDA that means many years till treatment comes out. Can anyone answer these questions. Is it true that protein we eat is broken down into amino acids in our digestive systems and then rebuilt into proteins by our bodies? If so would that rule out feeding her mecp2 since she already doesn't make it? If so why not give it to her through an IV? Take an IV used to feed patients and add a small amount of mecp2 into it. Maybe we could use protein made from me(father), mother or her brothers so her body would not reject it. Where are amino acids converted into protein? Couldn't we inject mecp2 there? I know these questions are rambling but I will admit to being slightly hysterical so please forgive.
Please help Lyford Morris
ping
These are good questions best answered by your daughter's physician.
Meanwhile, please accept my prayers for your daughter, for her doctors to find the correct treatment and for you and your wife to take comfort in our Good Lord's Peace.
Please get rest, you'll be better able to communicate with the doctors if you stay rested and healthy. God Bless your daughter, you and your wife.
I'm sorry I can't help with your questions, but I'll certainly pray for the help your daughter needs.
Ohioan, do you have anyone in your ping list with a medical background? If you're not sure who they are, could you just ping the whole list? We have a Dad here who needs some answers.
The diagnosis should be confirmed by another independent reference lab and discussed in person with the physician who ordered the tests, IMHO.
"The RSRF was founded in late 1999 by a small but passionate group of parents who were concerned by the lack of research being conducted on Rett Syndrome. Monica Coenraads, Wendy Friedman, Cory Henkel, Anna Luce, Gordon Rich and Jeanne Sinclair were confident that an organization focused aggressively and exclusively on biomedical research would accelerate the discovery of treatments and a cure for this devastating disorder.
Today RSRF is the world's leading private funder of Rett research. In the last four years RSRF has funded 65 projects at 47 of the world's premiere institutions totaling approximately $ 6.5 million. Furthermore, RSRF organizes the only annual scientific meeting devoted to Rett Syndrome. Each June RSRF convenes over 100 researchers and clinicians from around the world for a three day Rett Syndrome symposium
As a volunteer driven organization RSRF has raised millions since our inception. The foundation has proven to be fiscally responsible by directing 97% of each dollar donated directly to program services.
No one is more motivated to find treatments and a cure for Rett than parents whose children are suffering. With prominent researchers around the world now focusing on the disorder, leading scientists serving as Foundation advisors, and a strongly committed Board of Trustees and staff, RSRF is confident that its vision will be realized.
Our Vision RSRF's vision is a cure for Rett Syndrome.
Our Mission
RSRF's mission is to fund, promote and accelerate biomedical research for the treatment and cure of Rett Syndrome."
RSRF Rett Syndrome Research Foundation
Here they offer an online newsletter with archival copies. RSRFlash Rett Syndrome Newsletter
Here is an online video about Rett Syndrome which might give you some information when your daughter's doctor is unavailable to answer questions, such as the middle of the night :-)
RSRF Video: Accelerating the Search for Treatments and a Cure
I skimmed the site and found that they are actively looking for a cure, and that they are doing a few clinical trials, but on patients older than your daughter. There is time.
Have faith. God Bless.
Mr Morris:
I know nothing about Retts but maybe I can help with the protein question.
Proteins are composed of amino acids, as you have surmised. There are two basic types of aminos; essential (not synthesized by the body) and nonessential (synthesized by the body)
The body builds the proteins it requires from essential and nonessential aminos, however, a "pure" protein that the body requires can be taken up directly.
I don't know if the specific protein your daughter is deficient in is one that can be found in "pure" form or if it must be synthesized in the body.
Your doctor, or a good nutritionist may be able to help.
My prayers are with you and your family.
I am sorry to hear about your daughter's diagnosis. You should get a second opinion from a doctor specializing in genetic diseases.
The link below explains protein synthesis:
http://tidepool.st.usm.edu/crswr/110proteinsynthesis.html#3
mecp2 is the description of the place on the X chromosome where a mutation has affected DNAs ability to synthesize a protein. I am not sure that is the name of the protein. I believe it is the name of the gene that codes the protein.
The way it works is: DNA codes messenger RNA which codes rRNA in the ribosome of the cell. Any miscoding would result in a protein that would either be unacceptable in building certain structures or perhaps not code the protein at all. It is not clear to me that they know exactly what protein the MECP2 gene codes (they call the protein Mecp2, but I don't know if they have the chemical formula yet) and it may be much more complicated than I can understand from the articles I have found. I will continue to read on this for a couple days and post again if I find more information for you.
This link is some new research on mice:
http://www.nih.gov/news/pr/jul2002/nichd29a.htm
"To generate the mouse model of Rett syndrome, the researchers mutated, or altered, the MECP2 gene of male mice. The MECP2 gene, which is thought to be involved in brain maturation, is located on a region of the X chromosome, one of the two sex-determining chromosomes found in human cells. In a previous study, the researchers discovered that a large majority of Rett syndrome patients have abnormal MECP2 genes. "
One paper said they feel this is not a "progressive" disease but a developmental disease.
There is hope for your daughter:
"Predicting the severity of RS in any individual is difficult.
Many girls begin independent walking within the normal age range, while others show significant delay or inability to walk independently. Some begin walking and lose this skill, while others continue to walk throughout life. Still others do not walk until late childhood or adolescence.
Seizures can range from non-existent to severe, but do tend to lessen in their intensity in later adolescence.
Breathing abnormalities may occur and also tend to decrease with age.
While scoliosis is a prominent feature of RS, it can range from mild to severe.
Despite these difficulties, girls and women with RS can continue to learn and enjoy family and friends well into middle age and beyond."
Scientists hope the mouse research will allow them to find a way to switch off the MECP2 gene. They know the protein it makes some how affects brain development. They are in very early stages of research. It is clear it will probably take some time before the exact mechanism is understood and a cure for the disease found.
These are contacts from the mouse research posted on the NIH website. They are probably the research scientists working on this problem and may not have any clinical insights for you. But it would probably not offend them if you called them to explain some of the mechanisms involved.
If you cannot understand what they are saying. I would be willing to talk with them by email and try to translate the technical information for you.
Susan Marsiglia
Robert Bock
(301) 496-5133
Here is some more contact information:
The NICHD is part of the National Institutes of Health, the biomedical research arm of the federal government. The Institute sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. NICHD publications, as well as information about the Institute, are available from the NICHD Web site, http://www.nichd.nih.gov, or from the NICHD Clearinghouse, 1-800-370-2943; e-mail NICHDClearinghouse@mail.nih.gov.
Again, because of the early stage of research, I am not sure how helpful these scientists can be right now.
I will send you my email address by private Freeper message.
Dear Mr. Morris,
I will pray to the Ultimate Healer that your daughter is healed.
Sometimes gene therapies and experimental treatments are done on patients with a low chance of survival. You should talk to your doctor immediately and ask about experimental treatments, as these are the only ways to permenantly treat your daughters condition.
Love, in Christ,
Jonathan Highness
I just found some additional information that indicates the gene involved "silences" other genes. The gene involved may be a switch, for other genes. Somehow the coding error may not allow switching off of genes at various developmental stages.
This would explain how an infant would be ok at first and then start showing symptoms later.
"The diagnosis should be confirmed by another independent reference lab and discussed in person with the physician who ordered the tests, IMHO."
I'm an RN and I heartily agree. In the meantime, look online for support groups. You usually find all kinds of resources from these groups...parents who've tried all kinds of things. Read what they say and get more information as you can about your daughter's disease and current therapy.
We'll all be praying!
On the chance that any of Terri's Freepers can help this father, I am pinging the list! I know that some of you have extensive medical training. If nothing more, perhaps we can offer some support through prayer. Thanks!
My prayers are with your family, Mr. Morris! May God bless you as you look for answers.
I add my prayers as that's all I can do. But prayer has amazing power. God Bless you and give you comfort in this trying time.
In His Love
susie
FROM THE WEBSITE:
Highlighting this event will be well known speakers Dr. Karen Erickson and Susan Norwell. Both will deliver high energy presentations which challenge the myths about learning in RS and inspire new and motivating techniques as well as practical and creative ideas for the classroom.
Hands on demonstrations will permit you to try out different types of technology with advice from the experts.
Other speakers will round out the program with information on music therapy as a learning tool, inclusion and LRE, accessing the regular education curriculum and team approaches to learning.
The topics of early intervention, access to learning and literacy, and writing an effective IEP will be covered in smaller breakout sessions.
This great conference is a must for parents, teachers and therapists of pre-school and school-aged children with RS.
For the older girl, sessions on nutrition, womanhood, day-to-day quality of life issues and a parent panel on challenges and choices when the school bus doesn’t come anymore will provide a wealth of information.
And for all who attend, research updates from genetics
__________________________________________________________
I noticed that they mentioned Music therapy. Having worked with many different types of people in mental health field and having worked with disabled children nd adults, I am a big believe in music therapy.
I offer my prayers for this family.
Sincerely,
Paula
Please know that you and your family are in my prayers.
Here is an ongoing clinical trial, which is recruiting patients.
http://www.clinicaltrials.gov/ct/show/NCT00069550?order=1
I strongly urge you to read and print out everything you see at hte links others have found.
The second opinion is also a good idea but with a warning. If it is different, and especially if it is more hopeful, then get a third opinion. Don't trust it just because you like it better.
Online support groups can be extremely helpful but watch out for those who tout some type of herbal remedy. In that case go to pubmed and see if there are any articles on it.
Clinical trials can be a continuing source of hope.
Go to some websites that explain basic genetics in order to understand it better.
Hope some of this helps.
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