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#18930 - 09/17/04 04:42 PM KFSD- Keratosis follicularis spinulosa decalvans
Darwinsmom Offline
Member

Registered: 08/05/04
Posts: 14
Loc: Ottawa Ontario Canada
Hello everybody!
God bless Laura for all her efforts in getting the registration fixed! I've been waiting a while to get registered and I am sooooo excited to finally be here!

My 21-year-old son Jake and I were both diagnosed with keratosis follicularis spinulosa decalvans (KFSD) in April 2002. I am extremely interested in corresponding with anyone living with this disorder. We were diagnosed by Dr.William James of Philadelphia when he was a speaker at a dermatology conference here in Ottawa. He held grand rounds and examined many people while he was in town, and we were so fortunate to have been seen. It took seven years of horrific eye problems and severe photophobia before we finally got an answer about what was going on.

I'm really very excited about finding this community! Even though there don't appear to be any others registered who have KFSD I hope some day someone else will sign up. I've read many of the posts on the boards and have learned a great deal about what it means to live with any form of ichthyosis. Thanks to all of you who have posted wonderful tips and explanations. I hope to be able to contribute myself soon.

[This message has been edited by Darwinsmom (edited September 18, 2004).]

[This message has been edited by Darwinsmom (edited September 18, 2004).]
_________________________
Sonja Harding
Ottawa Canada
KFSD

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#18931 - 09/19/04 08:48 AM Re: KFSD- Keratosis follicularis spinulosa decalvans
threerxli Offline
Member

Registered: 01/14/03
Posts: 515
Loc: virginia
Welcome to the board..there are so many great people here, I am glad you can finally be a part of it. I know for my family it was nice to know that we were not alone, and other people were experiencing the same difficulties. Due to this board, I have found out that another ichthyosis child lives about 2 miles away. We would have never found that out with out this board. It is bringing so many people together. Welcome!
Darcie

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#18932 - 10/14/04 09:00 AM Re: KFSD- Keratosis follicularis spinulosa decalvans
RobbysMom Offline
Member

Registered: 10/14/04
Posts: 26
Loc: Michigan
I'm the mother of a 7 year old who was diagnosed with KFSD last winter by University of Pittsburgh Doctors. I'm amazed to run across someone else with the same diagnosis! Any advice or tips, or idea what the future may hold is greatly appreciated.

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#18933 - 10/14/04 05:05 PM Re: KFSD- Keratosis follicularis spinulosa decalvans
Darwinsmom Offline
Member

Registered: 08/05/04
Posts: 14
Loc: Ottawa Ontario Canada
Hi there!
It is so nice to "meet" someone else who is affected by this disorder. As a Mom of a young man with KFSD I have a different perspective, since I have it myself. If you would like to correspond please feel free to email me at darwinsmom@rogers.com . I'd be curious to know which doctor made the diagnosis. I've learned of three people who have been diagnosed with KFSD by Dr. William James and/or his colleagues in Pennsylvania since my son and I were diagnosed in April 2002. Since doctors tend to notice disorders with which they are familiar, perhaps our diagnosis helped doctors solve mysteries for other patients. We went through a terrible time trying to figure out what was going on! It would be nice to think that some of our struggles may have played even a tiny part in other people getting a correct diagnosis.

I am excited and saddened to learn that there are more of us living with this disorder. I've had most of the characteristics of KFSD all my life, but the scarring alopecia (hair loss) only started seven years ago, along with the really severe photophobia. My son has very few problems with the disorder, but there are signs of changes with his eyes.

I look forward to communicating with you by email whenever you feel comfortable with it. This might sound odd, and I hope it doesn't make you uncomfortable, but please give your son a hug from me. It is so difficult to be "different" when you are a child.

Cheers
Sonja
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Sonja Harding
Ottawa Canada
KFSD

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#18934 - 06/13/05 10:16 AM Re: KFSD- Keratosis follicularis spinulosa decalvans
H's Mamma Offline
Junior Member

Registered: 06/13/05
Posts: 2
Loc: Tamworth, United Kingdom
Hi, I've just joined this site as my son who is 4years old has just been diagnosed with KFSD. I am finding it very difficult to come to terms with and struggling to find any information on it at all. The doctors here in the UK are very vague as the condition is very rare and they can't really tell me more than the obvious. I'm hoping that you will tell me your experiences and hopefully we can compare. My son, Harry has so many problems which seem unrelated to this disease, however they can't be sure. He was diagnosed with atopic eczema when he was a tiny baby, but that has since progressed to keratosis pilaris all over which apparently is quite common, even me and some family members have it midely. However, Harry has it severely, especially scarring alopecia, having lost most of his lovely locks from the top of his head, it looks probable that this is spreading all over and he may lose his whole head of hair. He has a condition called brown's syndrome - a muscle problem in the one eye and severe astigmatisms in both eyes - these may be or may not be linked. He suffers slightly from photophobia and has done since he was a baby. He has general developmental delay, a bowel malformation and an MRI scan revealed some abnormalities within the brain. I guess I'm dreading the future, not knowing what to expect. I'm sure you can understand. Please contact me with any reassurance or advice, it would be appreciated. One doctor has mention oral retinoids another had said there can be side effects. What to do?

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#18935 - 06/15/05 05:29 AM Re: KFSD- Keratosis follicularis spinulosa decalvans
RobbysMom Offline
Member

Registered: 10/14/04
Posts: 26
Loc: Michigan
I sent a direct email last night, couldn't find my password to post on the board. And we're leaving on a vacation trip today so everything is slightly crazy here.

Anyway -- welcome to this board, I hope you find some useful info here. I mentioned in my email that DarwinsMom has probably read more literature about KFSD than I have. If she doesnt' check on the board soon you might try to pm her.

Also; you asked a question about oral retinoids. We haven't used them, but did discuss it at one point and decided that, if possible, we would wait til he hit his teens because of the potential side effects.

What we have/do use: Steriodal topical ointments work best for us for severe outbreaks (scalp as well). We've tried elidel and lactic acid creams - they don't seem to do much. Salysilic acid lotions seem to work somewhat better than regular lotions. We use a shampoo with 3% salicylic acid. Lotion 2 times a day, eye lubricants 3 times a day.

Our biggest concern is keeping his eyes healthy long term. He sees a pediatric opthamologist every 2-3 months, she tests glaucoma pressure readings every visit because of the topical steroid use.

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#18936 - 06/15/05 06:40 AM Re: KFSD- Keratosis follicularis spinulosa decalvans
Darwinsmom Offline
Member

Registered: 08/05/04
Posts: 14
Loc: Ottawa Ontario Canada
To H's Mamma and RobbysMom
I had replied to H's Mamma directly when I read her post. My apologies for not posting a message here to let others know I had done so. We really do need to keep some things in the public forum so there is a history of communication for others to follow after they are diagnosed.

At this point I am in touch with three people with KFSD in the United Kingdom. While it is not a pleasant thought to know there are three people in the U.K. alone (just the ones with whom I have contact - I know there are more from the medical journals) there is strength in numbers and the more cases that are identified the more likely it is that someone in the medical field will show some interest.

I suspect that our numbers are too small, and we are spread across the globe, so it is difficult for any one doctor to develop any real expertise in the treatment of our disorder.

If anyone from Canada is diagnosed with KFSD, please feel free to contact me - or anyone else who has posted on this board! I am currently working on a website for KFSD that I hope to have submitted to all the search engines. Wouldn't it be nice to find a personal website when searching the Interent rather than all the references to academic journals and Online Mandelian Inheritance in Man(OMIM - KFSD is assigned the code 308800)? I'll post a message here when the site is up and running. Along with offering people their own personal page I hope to get permission to post every journal article I can find. Fingers crossed I'll have it up by the end of summer. We are using Macromedia Flash for the whole site, so the coding is very time consuming, but it will be the best I can possibly make it.

To H's Mamma: If you did not receive my email please reply on this board. I am more than happy to help you navigate your way through this, and RobbysMom has a perspective that would be very helpful to you. She has a young child who was diagnosed as well.

[This message has been edited by Darwinsmom (edited June 15, 2005).]
_________________________
Sonja Harding
Ottawa Canada
KFSD

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#18937 - 06/15/05 07:42 AM Re: KFSD- Keratosis follicularis spinulosa decalvans
RobbysMom Offline
Member

Registered: 10/14/04
Posts: 26
Loc: Michigan
It would be great to have a site just for KFSD! I wish we had more information on how many people are around & diagnosed, and how severe their problems are. We keep doing 'trial and error' on medications with our derm. Having a small database of other KFSD folks experiences with meds might help alot.

I'm never quite sure his eye doctor 'gets' our level of concern. Because our numbers are so small, all we have are stories from individuals -- not numbers that can be translated into statistics to tell us how likely it is that he'll experience total hair loss, or vision loss.

For H's Mom --
Hopefully, you will find that your current level of anxiety will lessen as your learn more about Harry's condition(s) and how to cope. I found myself hyperfocused and worried about so many of Robby's medical issues as we have been learning our way through the past year or two. Now, much (not all) of what we deal with is routine -- our 'normal'. Most importantly, he views all our routine, and monthly treks to doctors two hours away as 'normal' -- and a great way to get some one on one attention from mom or dad!

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#18938 - 06/15/05 11:28 PM Re: KFSD- Keratosis follicularis spinulosa decalvans
Les Avakian Offline


Member

Registered: 08/13/00
Posts: 680
Loc: Fresno, Calif. USA 93705
Hello All
Just a suggestion. Why dont you contact Jean Pickford or Maureen Tierney at FIRST,in Lansdale, PA, to see if they have data on other KFSD people?Our ichthyosis support network might be able to put all of you together to discuss common experiences, symptoms, remedies, etc.You can contact FIRST at info@scalyskin.org or (215)631-1411.Take care everyone and great posts.
Sincerely,
Les Avakian
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Les Avakian

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#18939 - 06/22/05 11:50 AM Re: KFSD- Keratosis follicularis spinulosa decalvans
H's Mamma Offline
Junior Member

Registered: 06/13/05
Posts: 2
Loc: Tamworth, United Kingdom
Hello!

So sorry for taking so long to post back my response but I thought for some reason that i would get notified by email when someone had responded to mine. I am a member of another forum which deals with ASD - as Harry shows many traits of Asperger's Syndrome too, I get an automated email when someone posts on a particular discussion I am part of. Anyway, I know a few of you have contacted me directly, which is great, I really appreciate it. I've been busy, busy beeing about lately, Harry seems to have one appointment after another plus I am still absorbing all the info about KFSD and coming to terms with the possibility that Harry may have more suffering to come. It's a lot to take in, but bless my little lad, he has been poked and prodded since he was born with one hospital appointment after another, as Robby's mom pointed out, it becomes the norm for them. Not much more I can add at the mo, still waiting to see the Geneticist and also the consultant dermo to discuss any other alternatives to oral retanoids, I shall mention the ones you have tried and see what she says. Can I ask a question to you all, when you treat the scalp is it because it is dry and scaly, hence itchy or because it is inflammed and scabby. At the moment, Harry has dibrobase emoillient as a subsitute to shampoo massaged every other day to help with the dry, scaly and itchy scalp, but he also has scabs/sores, I'm not sure if this is from the cream or part of the disease. Dither, dither.
I'm off now, getting behind with so much, my jobs are endless, waffle waffle, still need to write a very thankful letter to my Grandad who very kindly paid for Harry to be seen privately, single mother hood is hard work sometimes. Aren't I a moaner, easy to do with strangers though. Sorry and THANKS!!!!!!

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