Information on PFFD

[dietriche]

Hi.

My name is Beth and my son was born in June with a rare birth defect (depending on who you talk to the estimates range from 1 in 100,000 to 1 in 500,000 babies are born with this condition) called Proximal Focal Femoral Deficiency (PFFD).

I have been searching the web to find out more information about his condition. Since it is a rare condition it is hard to find information that discusses PFFD.

If anyone has any information on this condition, available funding assistance for treatment of this deficiency, etc. I would appreciate you contacting me.

So far all we know is that there is no known cause, that it is rare, and that there are only a handful of treatments (that vary widely from amputation to limb lengthening).

Anything you can share is helpful.

Thanks.

Beth

[barbarhow]

Beth-I am so sorry about your son. You must be sick with worry about him. I did a quick search on medline here at work. It doesn't show alot but there are several articles on available treatments that vary widely as you said. I am hoping that one of our pediatric doctors or surgeons might be able to get you better info. If you like I would be happy to email some of the articles. I, admittedly, am not great at interpreting research. I do know that there are a number of people on the boards who are. So maybe with a collective effort we can help you get some clarity.
Also-Please don't be afraid to bump your post if it gets lost in the back pages. Yours is an important topic and if enough people read it perhaps there will be someone who can really help.

Barbara-mom to Jack 3/27/03

[jamierush]

I am sorry to hear of your sons condition. I did some checking and maybe this web site can help. It seems to be a parent support group.

http://www.nls.net/mp/pffdvsg/

Take care, Jamie

[missym]

Beth,

I'm sorry that you are facing this anxiety during what should only be a happy time. Have you tried this virtual support group? It doesn't appear to be very active, but might be a good starting point for meeting parents in a similar situation:
http://groups.yahoo.com/group/PFFDvsg/

Also, this page seems to be an earlier incarnation of the above group, and has lots of links and information:
http://www.nls.net/mp/pffdvsg/pffd-info.htm

You've probably already seen these links, but I wanted to pass them along just in case.

Good luck in your search for answers and support,
Missy, mom to Gwen 03/03

[dietriche]

Barbara-

Thank you for your kind words and the information that you already shared.

You are very right that I am really worried about him because of the rarity of the situation and the fact that there doesn't seem to be a concensus of what the treatment should be. I worry so much that when it comes time to make a decision about his course of treatment that I won't know what decision to make OR that I might make the wrong decision. Just another reason that I am trying so hard to find out more information.

I would be very grateful if you were able to send me some of the articles that you found on medline.

As I stated earlier I really would appreciate any help I can get.

Beth
[email protected]

[dietriche]

Thanks Jamie.

I appreciate it.

Beth

[dietriche]

Thank you so much for your information.

It means so much for me to see that even though I only posted my question a few hours ago I have already gotten a lot of responses. This is the type of thing that is going to help me get through this.

Beth

[McQ]

Sorry that I don't have any advice to give. But this is a great community and I hope others will have some insight for you. All I can offer is a shoulder and will keep you and Ethan in my thoughts.

Allison
~ mommy to Declan 3.24.03 and Meghan 8.26.04

[barbarhow]

I'll do it now. It sounds like you are at a university? Some of the articles aren't full text but I wonder if they could get them for you.
Barbara-mom to Jack 3/27/03

[dietriche]

I do actually work at a university. I may be able to have our librarians or another staff member get the articles that aren't full text.

Beth

[Elilly]

Beth,
My thoughts and prayers are with you and your family as you go through this time of need. I'm sorry that I don't have any help to offer but please know that we are all here to support you. Stay strong and take care of yourself too. I'm sure that dealing with your son's condition and sleep deprivation are not a good combination.

[Torey]

In the hopes that one of the MDs on here will see it and have more info.

[starrynight]

I don't have any info, just some support and good thoughts. I can't imagine the frustration of not even having a general course of treatment in place.

[barbarhow]

Beth-I'm bumping this again. Still hoping one of the MDs will have some info. And sending you an email.
Barbara-mom to Jack 3/27/03

[dietriche]

Thank you to all who have been sending information and encouragement my way.

I really appreciate all the support and information that you have provided.

This group is really a wonderful place to be a part of.

Beth

[barbarhow]

Bump
Barbara-mom to Jack 3/27/03