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FAP,Desmoids, Hepatoblastoma
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FAP,Desmoids, Hepatoblastoma

Anyone that has experience with any of this, and would like to discuss it, I'd be interested in talking about it.  I have 5 family members affected with FAP, 2 died of colon cancer at the age of 32 & 38.  My son at 31 to a Desmoid, and a grandson to a Desmoid at 18. My surviving son was diag. at 12, had a total colectomy and is a healthy 38 today. I have a lot of experience with all this, and sometimes sharing can help.
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Avatar_n_tn
I'm sorry to hear about your losses at such young ages. were they diagnosed with FAP prior to their deaths? What types of treatment did they go through to suppress the growth rate?  My daughter was just diagnosed with FAP and I'm a nervous wreck.  She is 16 years old and is just starting her life. I'm not ready to give her away to FAP.

Thanks for your input.

Hopeful Mommy....
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Avatar_f_tn
Hi, and thank you.  Was your daughter having routine scopes, is this how they discovered she has it? My children were having yearly colonoscopies, due to their father and uncle dying from colon cancer at 32 & 38. They developed colon cancer very close together and this is when we learned it was in the family.  Within 3 months of each other my 12 & 16 year old sons were diagnosed.  Back then there was little known about the disease.  My 12 year old son immediately had his colon removed, and 3 months later my 16 year old son had his removed.  My 12 year old is now 38, as you know people with FAP can develop polyps in the small intestine also.  My son has several which they are watching carefully in his duodenum.  They usually don't become malignant, but there is always that chance. FAP has not slowed him down one bit!  He is a speed hiker, marathoner, ultrathoner, mountain biker and competes in jujitsu.  He is married but has chosen not to have children because of the 50% chance of him passing on the mutation.  My oldest son did not fare as well.  He had one problem after another, but went on to marry and have 2 little boys.  A rare part of FAP is Desmoid Tumors, and once the colon is removed the person should be monitored for the growth of one because surgery or trauma to abdomen can trigger their growth.  Also, puberty, pregnancy, and menopause due to the hormonal changes. They didn't monitor my son and he developed a large desmoid that eventually took him from us at 31.  It's a very long story, but would be happy to share it with you, just let me know. His sons were 6 and 9 when they lost their daddy, and when my oldest grandson was 10 he was dignosed and had to have his colon removed immediately.  Just like his dad, he had one problem after another.  By the time he was 16 he had endured 38 surgeries.  He developed a 38 lb Desmoid which was removed, but he was dying.  With just 10 days left to live, he received a 5 organ transplant.  He suffered tremendously, Stage II organ rejection, had to stay in their apartment for an entire year with nothing to eat by mouth for that year.  He was on TPN where he hooked up to IV's while he slept for his nourishment just as he had watched his dad do for 2 years.  In Nov. he had only 1 surgery left to go and this was to remove his colostomy and ileostomy bags.  His surgeon wanted to wait until after Thanksgiving so that my grandson could enjoy his dinner as he wasn't allowed to have any the year before.  This would still give him time to heal and graduate with his class in June '09.  To look at him you would never know he had endured all that he had.  He was a typical teenager with hopes and dreams for his future.  Right before Thanksgiving he called me because he was really down, missing his dad.  Saying he just wished he were here to toss a football with him.  We talked for about 40 minutes and made plans to go Christmas shopping the following week.  As he was hanging up he said "I love you grandma, and I said "I love you too sweetie."  A few days later he had walked to the corner store and started vomiting blood  He called his mom and when she arrived he was standing in the parking lot still vomiting blood.  Both his bags filled with blood and he passed out.  He was rushed to the hospital where he died, he had bled to death on Dec.1, 2008 at the age of 18. An autopsy had to be performed, but I chose not to hear the results, I want to remember his sweet smile that lit up a room and my heart, and his last words to me. When I had to say good-bye to him, I whispered "heads up sweetie, your dad just threw the ball...." His younger brother still cannot sleep in the bedroom they shared, and he sobbing at night still wakes his mom.  His dad and brother's ashes sit side by side in their living room.  He knows he may face the same fate, and we are all worried about him.  But please know that Desmoids are rare, and the key to FAP is knowledge and vigilence, always.  The mutation has not been located in any of our 5 family members.  I have a daughter who is 37 with a 2 1/2 year old son.  I work with 5 geneticists and although they say she "probably" doesn't have FAP, none will commit.  My grandson's doctor is Professor of Pediatric Gastroenterology@ Cincinnat Children's Medical Center which is the premier unit in the country for this.  He states that if my daughter reaches 40 with no polyps, she can relax knowing that she nor her son have it.  Geneticists agree that until that point we must remain vigilant with her 2 1/2 year old son.  He gets his AFP levels checked every 3 months for the pediatric liver cancer (Hepatoblastoma) also untrasounds until 5.  At that point the geneticists want to re-evaluate how close we need to watch him, if at all. They are still learning so much about FAP and it has so many facets, that everyone is afraid of not being cautious enough.  I don't want my story to scare you.  It is extremely rare to have a cluster of Desmoids like we've had in our family, and even the pediatric liver cancer that babies of a parent with FAP can be born with or develop by age 5 is also very rare.  I've been dealing with this for over 30 years, and everyday in my research learn new things.  They now think that because in about 33% of people with FAP whose mutation cannot be located, that it may be another gene causing the APC gene to malfunction.  This would explain why they are not finding a mutation of the gene in these people.  Everyone who has/had FAP in our family could never have the mutation found.  My surviving son has had 3 tests done, 2 just this year, and still they cannot locate the mutation. Does your daughter have the most common form of FAP or is it the "attenuated form?"  Do you or your husband have FAP, or was this just a spontaneous mutation in your daughter?  I research FAP every day just to try and stay one step ahead of it for my daughter and 2 grandsons. Your daughter must continue to educate herself until she goes through menopause, to keep ahead of the game.  When my husband was diagnosed, I called so many places to find info on it, and the most I could get was a small paragraph out of my doctor's medical textbook.  Back then it was called Gardners Syndrome and was considered an orphan disease, but then they realized it was actually part of FAP.  I know still today, many pediatricians are not aware of it or dentists.  As you know supernumerary teeth can be a symptom, so a dentist would play an important role in early diagnosis  My son has this but nobody knew it was a symptom of anything back then.  Also, opticians play an important role due to the finding of "bear tracks", brown spots in the shape of a bear paw behind the retina during an eye exam. I have only met one other parent whose daughter was born with it.  When she was 5 weeks old her mother was burping her and felt a small lump on her spine.  The grandmother told her not to worry because all babies spines are boney, but this mother had a feeling it was more.  When she took her baby girl for her checkup at 6 weeks, she watched as the pediatrician examined the baby, running his hand over her spine and not noticing the bump.  So she asked him about it.  He said he felt it was just a small fatty tumor, nothing to worry about, but they would run some tests.  It was just the tip of the iceberg.  This little lump was part of a Desmoid tumor!  At 5 months old they tried to remove the tumor, they were only able to get a third of it, taking half her back with it.  This baby has no future.  This is what I mean, FAP varies so much from person to person that you just can't be too careful.  What has happened to your daughter so far?  Please write back to me, it's good to have someone to share this with.  Hopefully, I can help in some way as I've learned more than I ever wanted to know about FAP!  Even Desmoids can be controlled if caught in time, so as long as you,  your daughter and her doctor remain vigilant, she will be fine.  
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Avatar_f_tn
hi am a 28 year old mum to a 5 year old daughter n i suffer from fap,ive got 2 desmoid tumours in my stomach which i have 2 av removed in 3 weeks n wud b greatful if anybody has any info on desmoid tumours please or anybody thats had them removed as i am so scared xx
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Avatar_m_tn
don't worry, I'm 55 years old and have dealt with this since I was 10 yearsw old.  call Dr James Church at the Cleveland Clinic 1800-223-2273 ask for him.  He is the best. He saved my life
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