Birthmark or Cafe-au-Lait spot?

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Birthmark or Cafe-au-Lait spot?

Postby Guest » Tue Mar 27, 2001 6:31 pm

I wrote this post earlier but it didn't work so I'm doing it again.....Sorry

I have a 14 month old daughter who has one large (silver dollar sized, tan coloured, not really smooth edged) cafe-au-lait spot on her stomach covering part of her belly button area. This appeared when she was about 4 months old and my husband and I didn't think anything of it, we just assumed it was a birthmark. When my daughter was 10 months our babysitter told us to watch for signs of NF1 because these marks are a symptom of the disease. (Her nephew has a severe case of this) Now I find myself checking her body almost everyday and I am totally consummed by the idea that something is wrong with her eventhough she is an active child who has been developing at the right pace if not before. I took my daughter to the family doctor at 11 months to have her checked out and he informed me that there isn't any one test that can be done to diagnose this disease, that I will just have to wait and see. Since then I have been doing a lot of reading on cafe-au-lait spots and I was wondering what the difference is between a cafe-au-lait spot and a birthmark? Are they one in the same? Also, can someone explain what freckling of the armpits/groin actually looks like? At what age does this happen? I am still checking my daughter on a regular basis and I think that I see two new spots but they are quite faint. This has been driving me crazy and I can't keep going on like this. The last 4 months have been hell and it is putting a lot of stress on my husband and I. Please help if possible....

[This message has been edited by Avery'smom (edited March 27, 2001).]

[This message has been edited by Avery'smom (edited March 27, 2001).]
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Birthmark or Cafe-au-Lait spot?

Postby Guest » Tue Mar 27, 2001 7:24 pm

Avery's Mom..

My son, he turned 3 last week, was born without birthmarks. At his 2 month check up I asked about the "birthmarks" that seem to be appearing and was told that they do not appear after birth but they were probably cafe au lait spots and could be NF but...may be nothing. I too starting reading and checked daily for freckling. He also had a bowed leg at birth. Last month I noticed his ankle was turned inward and immediately was told my his pediatrian that it was time to start testing for NF. My Genetic Doctor explained that Cafe au lait spots could be associated with 80 + other things, so they won't jump to conclusions on that alone. It sounds like you have gone to the NF site, and as it says, it takes a combination of 2 items in order to be clinically diagnosed. There is a blood test for NF1 but it only accurately diagnosises 70%, therfore, if it comes back negative it could be the 30% that it is not capable of diagnosing at this time. My son's second sign was psuedoarthrosis of the lower right fibula (which is a false joint in a otherwise straight bone, which has broke). The problem with the break is that the bone is not normal as we know bones to be, therefore, a strong possibilty that it will never heal. The "freckling" under the armpits and in the groin I would say looks like round freckles, the spots themselves are not any specific size or shape (Cafe au lait in french is coffee with cream) My son has so many now that I stopped counting. Some light, some darker, some oblong (peferctly outined), some jagged and some feckles. They also have a test with a special light that will show "the spots" that the naked eye won't. If you are that concerned and stressed I would certainly ask your pediatrician to recommend a Genetic Doctor. Our pediatrician lined up appointments for lab work, full skeletral x-ray, an ophtamolgist, audiologist, orthopedic doctor and speech therapist visit prior to the Genetic Doctor's appt (since it took 6 weeks to get that appt.) but don't forget he had 2 signs. I have read too many stories on this BB, where parent's wish they had known their children had NF so they would know what to look for. If I had known what "bowing of the legs" really mean't, maybe I could have put Lil' Donald in a brace prior to him walking and have prevented the break. Go with your gut! Doctor's can be wonderful but this is not their child it is yours. Good Luck and God Bless.



[This message has been edited by Lil' Donald's Mom (edited March 27, 2001).]
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Birthmark or Cafe-au-Lait spot?

Postby Guest » Wed Mar 28, 2001 5:06 am

Hi,

I know how this stuff can drive you crazy !! I dont think that one cafe spot is enough to be worried about Nf. This is just my personal opinion. Not unless there was a family history or something. Occasionally kids are born with a birthmark and it doesnt really show up until they have been in the sun and get tan. My husband DOES NOT have Nf and he has two cals that are barely noticable but when he gets tan they show up. Most people have one birthmark or so and do not have Nf. I think most cafe spots with Nf show up at a early age. I was covered in them on my torso at a early age and got more during puberty and I think pregnancy. I wouldnt worry about it as much as you are. Your going to drive yourself nuts. Take it from someone who knows. I found out about my Nf only 3 years ago and obsessively examined my kids on a weekly basis. I was making them neurotic ! I would forget about it now. She doesnt have any other symptoms and unless she developed freckling or other symptoms I would put it on the back burner and enjoy your child ! If every mom who's child had a birthmark was worried about NF the Nf clinics would be packed !! Try not to worry. Be informed and know what to look for but dont waste your life worrying !!
God Bless !
Guest
 

Birthmark or Cafe-au-Lait spot?

Postby Guest » Wed Mar 28, 2001 5:16 am

Avery's Mom,
If your child only has one cafe au lait spot, then I wouldn't be overly concerned. Our geneticist told us that nine out of ten people will have at least one cafe au lait spot. You need 6 or more measuring a certain size to even be considered for one criteria of NF. You need two criteria from the list to be officially diagnosed. Here is a link so you can look at the list:
http://neurofibromatosis.org/pat3a1.htm

If you are still concerned, have your pediatrician set up an appointment with a geneticist familiar with NF who should be able to answer all your questions.

Take care,

Timmy's Mom Image
Guest
 

Birthmark or Cafe-au-Lait spot?

Postby Guest » Wed Mar 28, 2001 7:20 am

Dear Avery's mom,
One other suggestion I have for you, (which you can't do by observation, is to take your daughter to a pediatric ophalmologist for an eye checkup. They will test her vision and put in eye drops to examine her optic nerves. (They can also use an instrument (slit lamp)that looks for lisch nodules,(freckles on the iris.)This is a good diagnositic tool as well as a provider for piece of mind.
Take care...LM
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Birthmark or Cafe-au-Lait spot?

Postby Guest » Wed Mar 28, 2001 9:31 am

Thank you so much to you all for writing. I feel better already just knowing that if my daughter indeed has NF1 then there is all of this support for myself and my husband. I am concerned thought about her having cal's that are not detectable by the naked eye. I will check into this lamp as well as the eye check with my doctor at our next appointment. At our last appointment the doctor told me that he has only seen 3 cases of NF1 and all of them were mild cases. In fact when he was in medical school, one of the nurses at the hospital he was training at had NF1 and he wouldn't have known unless she told him. HIs nurse told me that NF1 is rare, only 1 in 3000 people have it and that 90% of the people who have it have mild symptoms so I shouldn't worry about it. Unfortunatley, my babysitter put this scare into me and now I can't seem to shake the idea. I have checked both of my daughters legs for irregularities and they both appear straight and she never had any problems with crawling or walking. I have heard that CAL spots assocaited with this disease will appear before the child is 3. Does this sound true? In your experience's, do these spots only show up on the torso or anywhere on the body? I they do could you give me some expamples, ie face, hands, legs? I can understand that more will appear at puberty and during pregnancy due to hormonal changes but will I have to wait that long until I find out if my daughter has this disease? Also, I had an amniocentithis test done on my daughter when I was pregnant. Could this indicate if my daughter has NF1? We don't have a family history of NF1 but it appears that NF1 isn't acquired only through heredity. This really scares me....My husband says that I should enjoy our daughter and if she does end up having NF1 then we will deal with it when the time comes and there isn't anything we could have done about it anyway. This is a lot easier said than done.
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Birthmark or Cafe-au-Lait spot?

Postby Guest » Wed Mar 28, 2001 11:12 am

MY 3YROLD SONS CASE IS SPONTANEOUS (NO FAMILY HISTORY) HIS PEDATRIC DR NOTICED THE SPOTS AROUND 31/2 BUT WASN'T SURE AND USED A WOODS LAMP TEST TO CHECK FOR SMALL BUMPS WHICH HE HAS. WE THEN WENT TO A GENECTIC DR WHO WAS 100% SURE AS SOON AS HE WALKED INTO THE ROOM. HE NOTICED MY SON'S EYELIDS WERE SLIGHTLY DROOPY AND RED UNDER HIS EYES WE THOUGHT WERE ALLERGIES IS ALSO A SIDE EFFECT FROM THIS DISEASE. MOST OF MY SON'S CAFE AU LAIT MARKS ARE ON HIS BACK, STOMACH, GROIN, AND BUTT. BEFORE YOU JUMP TO THIS CONCLUSION TAKE HIM TO A GENECTIC DR THAT DEALS ONLY WITH NF THEY WILL GIVE YOU A DEFINATE ANSWER BY A PHYSICAL EXAM ONLY AND IT WILL BE WORTH THE PIECE OF MIND. I JUST LEARNED ABOUT HIS DISEASE THIS FEB SO ALL THIS IS NEW TO ME. OUR GENECTIC DOCTOR IN GAINESVILLE FLORIDA WAS/IS GREAT.
Guest
 

Birthmark or Cafe-au-Lait spot?

Postby Guest » Wed Mar 28, 2001 5:02 pm

Twenty percent of the population has one or two birth marks. One birth mark makes your daughter ordinary.

Find the NF clinic nearest you and have them look at the two maybe birthmarks. Please don't worry about all the horror stories untill you have a good reason. Even if your daughter should have NF chances are she will only have a few mild problems.

Your babysitter was wrong when she told you that one birthmark was a sign of NF. It takes six and one of the additional signs. May I be so bold as to suggest that you turn worry into an action plan and get back to enjoying life.

The secret of dealing with NF or any other disorder is to get on with life. Your babysitter opened Pandora's box for you, you glimpsed one of the many things that could go wrong. Now you need to shut that box and lock your fear up and start raising your daughter like she's a normal kid. Control fear use it don't be ruled by it.

Everyday you will hear of the latest thing the could be wrong with your daughter it won't always be true. There are over 7,000 rare disorders if you knew the symptoms you'ld swear that you might have half of them.

Birthmarks are one of the signs of several other disorders your daughter doesn't have any of them. So why pick NF?

Now please don't think I'm being harsh I have wasted a lot of time worrying myself and it was a mistake. I don't want you to make that same mistake with your daughter.
If there is a road block ahead find another way don't park the car. Find solutions don't look for problems that might never be.

Vandaar


Vandaar

Vandaar
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Birthmark or Cafe-au-Lait spot?

Postby Guest » Thu Mar 29, 2001 4:51 pm

I think your babysitter meant well, but I wouldn't worry a whole lot about NF just yet, it's probabally just a birthmark, unless other symptoms show up. The freckling (on me anyway) just looks like regular freckles like on someone who is really freckle-faced, but in the armpits and neck, and groin area, mine are kindof dusky, look like I have a dirty neck.
Guest
 

Birthmark or Cafe-au-Lait spot?

Postby Guest » Mon Apr 02, 2001 7:21 pm

Your daughter probably doesn't have NF, but why don't you check with her doctor to be sure? He or she can diagnose her. Many, many people have birthmarks WITHOUT having NF.

Also, it's not healthy or productive for you or your daughter to worry obsessively like this. It'd be good for you to see her dr. and find out for sure that she's fine.
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