Our sweet little Isis has Ridged Spine Muscular Dystrophy-The following are letters between Jaz and Dr. The Web addresses are for more information on the disease.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10665485&dopt=Abstract (information)
http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1051 (photos)
From: Jasmine Bailey-Barfuss [mailto:jasmine@glooart.com]
Sent: Wednesday, September 20, 2006 10:36 PM
To: Kevin Flanigan
Subject: Isis Barfuss FVC and ECG
Dear Kevin,
Isis has been officially diagnosed with Rigid Spine Muscular Dystrophy, thanks to the help of you and Dr Phillipa Lamont here in Perth. I believe you know each other. They have identified 2 SEPN1 mutations in Isis and are going to look at myself and my husbands DNA to confirm diagnosis. Our five month daughter has the same symptoms as Isis – that is, floppy and weak neck and general weakness. She can’t lift her head while on her tummy and doesn’t push with her legs when standing on my lap etc. She also has had a droopy lip from birth – most evident when laughing or crying. Nothing else on her face droops, just her lip.
Isis had a FVC and it was really pathetic. He couldn’t do it at all. We’re lucky if he can blow bubbles on the rare occasion.
He also had an ECG and it was fine. His previous one 2 years ago was fine too.
I hope this information can help you in your research. We are happy to participate in any research as we are finding that there is very little information available.
Dr Lamont and I are struggling to find info on successful therapies and treatments of Rigid Spine MD. Do you know of any? Do you know if people with this can lead normal lives? Get married? Have children? If Isis is on a B-pap at night, will that help reduce the early morality rate? I am curious to know more about the family in your research paper. Are they mormons? We are mormons. My husband has pioneer heritage. My heritage is more Irish and Scottish. Do you think they may be interested in corresponding with us, or perhaps a visit on our next holiday to Utah (my husband is from Logan). It would be great if Isis could meet other children with the same thing as him. Not to mention how great it would be for us to learn more. I understand this is an unusual request.
Sincerely,
Jasmine Bailey-Barfuss
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Dear Jasmine,
I am glad to hear that you have finally received a diagnosis. It is quite clear that management of the respiratory issues is the most important determinant of function, and longevity. Early BiPAP intervention is a very good idea. I do in fact have patients who live long and functional lives. The oldest boy in the family from Utah recently moved to California to work as a computer animator. I have another patient, in her 30s, who has a professional position with the Veteran’s administration in Salt Lake City.
I think it is interesting that your family has pioneer heritage. The most direct way to determine if you and the Utah family (who are also Mormons) are by any chance related is to see if you carry one of their mutations. Could you scan and send to me a copy of your mutation report? I do know that the family would very likely be happy to meet you, and share with you their experience. I need to ask them directly before I put you in contact, but I will do so and let you know what they say.
I would also be happy to meet you if you get back to Logan (although I am in Paris for the year). In fact, we have ongoing research studies in this syndrome for which we obtain skin biopsy (in order to make a fibroblast cell culture), with or without a needle muscle biopsy. If you wished, we could take a tiny bit of skin from Isis when you visit. If you are coming to Utah any time soon, one of my colleagues would do it. (The skin biopsy itself is like that done at the dermatologist—a 3 mm punch biopsy of the skin.) We use these cells for ongoing studies which are beginning to shed light on the mechanism of disease, and will hopefully point the way toward treatment. If you are interested in this, but are not coming to Utah soon, we could also ask Dr. Lamont to start a fibroblast culture (most hospitals can) and send us the cells.
With my very best regards,
Kevin Flanigan
Wow! This stuff is interesting. It is deffinately way over my head but the link between the early pioneers and the disorder is a real curious thing. Good luck with the treatments for your grandchildren. Love ya - Greta
ReplyDeletePat.
ReplyDeleteThanks for the info on Isis and the communications with Jasmine and the Doctor in Utah/Paris.
I will be interested to follow this topic and illness in order to see if it will affect any of our other grandchildren, etc., down the lines of inheritance.
I understand the attempts to locate the parent line with the "inheritance" issue. I also believe I want to know this information. After that, let's hope that no one blames any one else.
ALSO, I would be greatly interested to read and see your diagram of family birth and death areas. Do you have a copy you could send to me?
Looking forward to talking with you today.
Judy.
That is so interesting, Pat, even though I understood a very little of it. Once there is a diagnosis, there is possibility for treatment, right?
ReplyDeleteYour darling was at the Womens' Conference last night, looking radiant. We'll all be glad when you are here, but especially Sally.
Much love Marge