Signing off until ???

Tonight I am packing my computer and don't know where or when I'll be up and running again. So until then bye and thanks for stopping in and viewing my blog. Love, Pixel Pat

Snellville swimming beauties!

Check out my fun water aerobics buddies! When I was working I went with them on Fridays and after my job ended I went Mon/Wed/Fri. The instructor's name is Linda and she makes it lots of fun. The men in the class are real talkers and I really made a lot of friends in the group. I will miss the camaraderie and the healthy body but am determined to find a group where we settle.

Nick and Jasmine's home is completed

Okay...
After quite some time, I have finally taken pictures of the house. I know a lot of you wanted to know what me and Jasmines house looks like, so here we go.

I have an extremely busy week ahead of me, so not much to say right now, other that enjoy the pictures, and I love you all!

Especially enjoy the PANORAMIC.jpg (a nice little picture I made if we ever sell the house...) Nick

Isis has a diagnosis

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

Armor of God

Tonight for Family Home Evening we were talking about the armor of god. Luke put on each part as we discussed how the armor protected us physically and spiritually. We were trying to all memorize what each part stood for. I then talked about how Satan would try and fight with us and if we had the armor we would always win. We had a little demostration by Luke and Lily as you can see. Lily was very much in character and loves acting. She had a good bad face and would chase Luke around, but just like we talked about she was good at dying everytime he pulled out the sword of the spirit. It was fun and I wanted to share the picture with you.
(When I was dressing Lily as Satan I handed the pitch fork to her and said "here is the devil's fork" Lily said "where is the devil's spoon?") Love, Sally

News from Australia

Both the kids are well. Mummy is fine, just tired because Phoenix has been waking up hungry throughout the night. Trying her on solids to see if that helps. We just went to the beach and found some coral. Nick and Isis are going to a Cartoon Camp in the school holidays. Should be so fun.
The camp Nick and Isis are going to isn’t actually a sleep over, it’s drawing Star Wars and Sci Fi and ghost stories and Night games. Should be fun!
Jaz

Have a sneak peek!

This is my 2006 Halloween costume I finished making today...Rick & I will be dressed in the "Narnia" Theme. We will probably go to Logan and take the Grandkids to Logan 29th Ward Halloween Party if they have one this year. If not well just go and see their costumes.

Photos from Max & Brigitte

I had one of my competitors take this picture of my family. I added in my parents since I haven’t had them in a photo with us for 3 years. I think they are cute… Brigitte

Isis in the news again!

Hi family and friends,
Isis was in the West Australian paper on Wednesday and I wanted to share the article with you all. I like it – especially the pictures. Someone really talented must have taken them….. ar ar. Love Jaz

Cute Grandkids!

Dear family,
I need new photographs for each child for my book--one for this year's age--for example I will use the one below for Luke's 6 year old picture. Also I like posting them for my friends to see.


I went and got the free pictures at Kiddie Kandids. I love the close up one of all three. You can tell they are all related! I can't wait to see if the new baby looks like them too! Only 5 more weeks!

This is Luke's 6 year old pictures too! I think he will get school pictures, but I don't know if they do that in kindergarten.

I hope you are all doing well, know that we love you!
Sally

Labor Day--end of summer?

Monday is recognized as the last day of summer by many...Labor Day! Rick will be with Luke @ the model airplane show at the Logan, Utah Airport. Luke hopes to see the flying lawnmower. I will be with the Snellville Ward Members @ the Atlanta Temple for the annual "Family Day at the Temple." Young children meet with volunteers who do arts and crafts with them and watch over them while the older children & adults do work for the living and the dead. I think both are great traditions and hope to be @ the airport next year! Have a Happy and Safe Labor Day. Love, Pat