Member Stories and Testimonials

Family #1

I know a lot of people are waiting for this journal entry . . . I'm going to be very vague about a lot of things because we still need to talk to certain specialists and see what they say, but it's been a pretty hard day again. Topics came up today such as: do we try to internalize her shunt (knowing that she is at a high risk for infection and with the localization of her fibromas it may not work again? Or do we have them remove the shunt and try different drugs for the increased cranial pressure? If her heart stops, or if she gets an infection, what do we want to do (advance directives)? And the huge issue is that we will need around-the-clock care coverage for abby to get her home because it's too much work for us to do alone, even with some hours covered by nurses. I still have to work to help maintain the roof over our heads, plus stay healthy and keep Abby's care/medication/equipment maintenance schedule straight! So, we need to either win the lottery or clone me . . . and I don't know how the world would take that! Or the other option would be to keep her in the hospital and do day passes to bring her home or elsewhere for a couple of hours . . . this one is a hard one for Chris and me to come to a happy medium on. I know realistically it would be very hard for us to manage the majority of her care at home and maintain what we have . . . because if I can't work we will not have a house to bring her hom to. But I don't want my baby girl to stay in the hospital any longer than what she has to. Abby is the only one who will let us know.

Family #2

In June, we were able to go to St. Louis, MO, for a conference and retreat of the BCCNS Life Support Network. It helped us more than we can tell to be able to connect with other families that struggle with the same condition. Stephen and the rest of us now know that we are not alone in this thing and that others understand what he is going through. July 1, he had another jaw cyst cut out and did really will with that. After several trips to both Cleveland and Buffalo, he is scheduled to have surgery on his eyelids to remove some cancers in January in Cleveland.

Family #3

Frankie was diagnosed with this syndrome (BCCNS) through a biopsy of a tumor in his mandible and an examination with a genetic doctor. At the present time, Frankie has gone through 5 operations. The first operation was conducted for the removal of the tumor (baseball size), to insert a vascularized fibular bone graft, and to insert a "bone plate" made out of surgical steel for structure and support for his face. During the removal of the tumor, Frankie loast all of his lower teeth with the exception of four molars, of which only one is currently above the gum line.

After the surgery everything progressed smoothly until about five days later, when Frankie developed an infection. At this point he required more surgery and we were told the bone graft had less than a 50% chance of survival. We were devastated. Little did we know that continued nursing care and return surgeries would occupy another two months of our lives. Frankie went back in the hospital for his fifth surgery. It was at that time that he lost the bone graft due to infection. The bone graft was actually necrotic (dead), which is why the infection raged on for so long.

Our deepest thanks goes to all of you who have been there to assist us and give us emotional support. This is a very difficult time and it has been made somewhat bearable due to the kind gestures of people like you.

Love, Kristie Roller

Family #4

Emilio has had more than his share of medical stuff again this year. The worst two large cysts in his mouth wrapped around a total of seven teeth, and they are still trying to reduce the size of them to save some of the teeth. The best is, after years of trying to get the doctors down here to give him the PDT treatment . . . the group that we belong to [BCCNS Life Support Network] has made it happen, found a doctor to treat him, get the medication (which is very costly) free, and one member even paid to get us there [Cleveland, OH]! We stayed at another member's home. Everyone in the group has been so helpful and giving, we were really blessed to find them.

Family #5

We are so thankful that our friend found the support group for Gorlin syndrome in time, because having the wrong surgery could have cost him many things, and possibly his life. One of the things the support group had pointed out to me is that Gorlins things [the various tumors] grow really fast, and the one cyst in his sinus area is very dangerous because the next place it would go is down the throat and to the brain . . . the doctors there [at the medical center] had the same concerns. However, the other surgeon (whom surgery was scheduled with for April 21) had said that it was located in an open space without bone for it to attach to, so he planned to just leave it there. Our second opinion appointment was set up Monday, April 14, for Tuesday, April 15, and my initial conversation with [BCCNS Life Support Network] was Friday, April 11.

Had it been a week later, it would have been too late. With the biopsy being consistent with Gorlin syndrome, we're lucky that he was taken care of by doctors with hands-on experience with this rare condition.

Additionally, the other surgeon was going to remove all of the cysts in his lower jaw, which would have cost him his jaw and many more teeth. Hopefully, this decompression (with the drain lines) works at rebuilding his bone in his jaw. Thankful for your intervention and with deep appreciation.

Family #6

Thank you so very much for everything, the conference was great and we learned a lot. It was so good to meet others with gorlins syd. My doctor wants me to talk to others about gorlins syd. My first meeting is June 1st. Can you send me lots of information new and old so I can try to do a good job at this. I would never be as good as you are at it Kristi. He said he would set up more meetings in other hospitals too so we can tell more people about this.

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