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4mth baby boy

TG1
  • By TG1
  • Posted March 24, 2009 at 6:05 pm · 34 replies
  • In NF1 and children
  • Shared with the public
0 Recommendations

Hi, recently took my baby to have needles and the doc noticed a few "birthmarks". Told me not to worry, they are Cafe au lait spots and just to keep a close eye on them.. Naturally I came home and googled staright away. I am totally freaked out !! I have a 4yr daughter who is completely healthy and no family history of this ! I have since counted about 8 spots on his body, a few of them extremely faint, 1 in his arm pitt. He is a happy, contented beautiful baby, and i cant imagine this happening.. Can these spots fade completely ?? Have other people had numerous spots and still not have Nf1 ?? Can you have Nf1 without noticeable tumours ?? I wouldnt have even thought about these spots unless my doc said something. I would love to hear from other mums about this, I feel very stressed and frightened..

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34 replies

PVA

Hi and welcome to the site.
My son also has nf. He is 13 and has multiple caf's. He is only now just starting to show very faint bumps. Everyone that has nf progresses at different rates. Just keep an eye on him and get him an appointment with a neurologist that specializes in nf. Go to
www.ctf.org
they have a link that can help you find an nf specialist in your area.
God Bless and good luck.

caringfriend

I agree with PVA; please take your baby to another doctor with knowledge in NF1. You may be one of the lucky ones. Blessings.

TG1

Thankyou for your replys, i am just taking one day at a time.

SnazzySox

I have gone to a geneticist who works at the NF and TS Clinic in our state. I have also taken my now one-year-old son to a pediatric dermatologist (the chief of dermatology at a large children's hospital that also has an NF clinic in our state) for reasons similar to yours. Though my son only has three or four tiny spots. They both told me the same thing. That it is unlikely that he has NF1. Of course, we will watch him, but that yes there are people who JUST have cafe au lait spots. So, I don't know why the research says one thing and doctors who are knowledgeable in this field say something else. Maybe there is new research. Maybe there are things we don't know. But I have literally freaked out about this and spoken to each of them over and over again, and they have both told me the same thing, over and over again. There are people who just have birthmarks that are not signs or symptoms of anything else but pigmentary abnormalities.

We are going to go to NYC--Columbia Medical Center in April for one more opinion. However, I suspect we will hear the same thing. So, I'm not sure what the deal is. I can only tell you that I panicked and used my Google-Fu just like you did. I scared myself silly. Went to top doctors. In fact, I spoke to a second geneticist at the hospital, an doctor who is known in the field and has done a lot of research. He said the SAME thing. So, my husband is a bit annoyed at this point because we've heard it from three doctors...specialists, not just pediatrician. There are people who just have birthmarks. I am not saying that that is the case with our babies, but the doctors have done everything they can do to convince of this, and I can't see why they would want to do this unless it were true.

Sheleena

Hi and welcome!!
Like you my son was only 4 to 5 months old when i noticed what i thought was birthmarks, until he had 10. The doctor didn't seem concerned at all, just told me they were Cafe au lait spots. Then within a month he was telling me oh he was sure it was NF. Yet he wouldn't tell me just what that was. Just kept telling me there is nothing to do about it so not to worry..... that was almost 10 years ago and 4 doctors later. I agree with PVA get another opinion and demand answers.
At this point in time, my son is a happy intelligent little boy. NF doesn't bother him, and he will tell anyone who asks what the spots are, "they are just NF spots, you know like angel kisses" I'm not saying that the road hasn't had a few rough spots along the way. He does have 3 harmatomas, Hydrocephulus- which he has a VP shunt to control it, and he has frequent migraines. He has yet to have any bumps or tumors. He does have learning disabilities, which mainly stems from him not being able to remember as well as others.
The hardest thing is what other "stupid" people say. Some of the comments can be really cruel. I know once i was asked if i knew he would have this if i would considered not having him. My reaction wasn't too nice but i did manage to smile and say "Yes i would have had him, 10 just like him, if you can't see how special he is then you aren't anyone i want to spend any time with!" I don't think i have talked to that person again.
Just keep your chin up and look for the answers you need. The Lord doesn't give you anything you can't handle! I will keep you and your family in my prayers. God Bless You!!!
Sheleena

proud_momma

HELLO PLEASE KEEP AN EYE ON YOUR BABY MY LITTLE GIRL WAS BORN WITHOUT ANY CAL SPOTS BUT AT 3WEEKS SHE GOT A REAL BIG ONE AND SHE HAS PLENTY I MEAN ALOT AT 18 MONTHS THEY DID A MRI AND FOUND A BRAIN TUMOR AND ONE ON HER EYE HE HAS NF1 SHE IS 8YEARS NOW I TELL HER THEY ARE HER BEAUTY MARKS.THE TUMORS GROW UNDER MOST OF THE TIME YOU DONT SEE THEM BUT A MRI AND CAT SCAN CAN IT WILL BE OKAY I PROMISE.I KNOW ITS HARD 2 SWALLOW WHEN YOU FIRST GET THE NEWS BUT IT MAKES YOU LOVE THEM EVEN MORE AND HARDER HE WILL BE FINE GOOD LUCK

mom2001

Hello,
Please don't panic about your little boy. I had a similar experience as you, with birthmarks showing up around 4 months and one in the armpit. The armpit one is often seen with NF1, and in my son's case it was NF1. But, here is the good news....of all my kids (I have 4, going on 5), he is the one who is the most social and easy going...the one people can't resist. He has had no other NF problems (he is almost 4 yrs old) except a few small bumps, which I have since learned may be because he has a vitamin D deficiency. I have started supplementing with vitamin D and have not seen any new bumps. His current bumps are so small no one would notice. All his birthmarks are below his neck and so we decided to not share his condition with anyone except for very close friends and family. He is doing great in preschool and has above average speech and social skills. What I am trying to say is even if your son does have NF1, MANY MANY MANY live completely normal lives. There are even adults who don't realize they have it until they have a child with it. There is much research being done on ways to prevent tumors and I trust that by the time our kids get to the age where most of them come, there will be additional insight for them. So, chin up and enjoy your little guy and trust God for one day at a time.

Rebeka

Nice Message, Mom2001.

TG1

Thanks mom2001, its nice to hear something so positive, i've had people tell me not to worry, but how can you not. I am trying to have some faith. Do these spots come and go ? Can they fade ? Or do they just keep multiplying ?

mom2001

Your right, it is impossible not to worry especially because online you hear no (or very few) "good" stories, only the bad ones. You have to remember that something like 50-60% of cases are mild. I also try to focus on the fact that each of our kids are fragile and a blessing and we don't know how long we will have any of them. For me, knowing that there are possible complications from NF makes me love him more and enjoy each day with him more. I also have worked with the local NF support group which has been very helpful in sharing new research and ideas. About your question of the spots fading, right now I am trying a cream called Avosil that some claim causes the spots to fade. I have only tried it a week or two, so I can let you know once I know. There are also many studies going on that have the potential to reduce bumps/tumors. In one study, all the people who are part of it have gotten no new tumors since they have started the supplement. The supplement's website is www.neuropathysolutions.com and there is a testimony from a NF man on there. It is very interesting and encouraging. I have not started this supplement with my little boy yet because the big tumor growing time normally does not start until adolescence. If that is seven years off for him, just think of the insights they may have by then? I am, however, supplementing with vitamin D as I said before. Research shows that many who have more of a "tumor-burden" as they call it are low in Vitamin D. I live in lovely Michigan where there is little sun Oct-May and therefore little vitamin D exposure from the sun. I also was so vigilent when he was little to keep him away from the sun, thinking maybe that would keep the birthmarks down. Did I, instead, cause him to have early bumps/tumors? I am not sure, but now that I know that vitamin d is so important for them I am hoping to let him be out there 15 min a day or so with no lotion to block the sun. In 15 min you can get your daily dose of vitamin D and after that I hope to put lotion on him. In addition, I am doing a mutlivitamin
(400 IUD) and every other day a supplement of 500 additional IUD. As far as I can see from reasearch, this is well below the toxic level of vitamin D and I am hoping it keeps new tumors/bumps from coming when he is so young.
To answer your question about the birthmarks, the NF doc here said that most of them come by 3 years old. After that typically light freckling comes, but no larger birthmarks. I hope that answers some of your questions and helps. Feel free to ask more, that is what we are here for!

CindyLouWho

Mom2001,
I am curious about your use of avosil. Just wondering where you heard about it? Was it recommended by a doctor? The reason I ask is that I had heard some rumors---maybe two years ago now but from a reliable source-- about a researcher who was having some success combining avosil with vitamin D and avogel--I may not be remembering that with 100% accuracy but I think that is correct--for the treatment of newly developed neurofibromas. I've often wondered why I never heard anything more about it. Would love to hear if you are having any results.

Thanks!

Cindy

Thepavlics06

HI TG1, I read your post and swallowed my heart. I am experiencing the very same situation. My four month old boy just had an appointment with the pediatrician a few days ago. He had one spot at birth and has since then acquired approximately 6-7, one of which I think is in his armpit. He said we should see a neurologist for an evaluation. I came home and got on the computer and I am just so upset for him. When I read your post I just couldn't believe how similar it was to everything that was happening with us and everything I am feeling/concerned about. I just can't believe how common this seems when I can't even think of a time I've ever noticed anyone with these bumps or spots!

Does anyone know if there is pain associated with NF? My baby has had screaming jags since he was born - uncontrollable. We have been to tons of Dr.'s who have suggested milk allergy, corn starch allergy, excessive gas, colic, and acid reflux - all of the changes to accommodate these issues have failed. Now I'm wondering, if he does have NF, is this why he seems to be in pain?

Also, what is the significance of the number of spots? Why are a few ok but more than 6 is bad?

jess1bud1

Hi TG1,
I am in a similar situation, with no answers as of yet. My son, now 22 months, was born with approx. 6-8 CALs. The pediatrician pointed them out to me, but said it's probably nothing. Recently, in the past few months he started showing minor asymmetry with his face and the pediatrician wanted him to be seen by a neurologist because of possible facial weakness on one side, but not for the CALs. Anyway, the neurologist examined my son and stated that he appeared to be fine and the asymmetry to the face was probably caused by sleeping in the same position and she said she has seen several kids with CALs that mean nothing. I was the one that demanded an MRI for my own piece of mind......and wouldn't you know it, the MRI revealed poorly defined foci in the cerebellum, very common for NF1 patients. So the point of the story is don't rely on everything the doctors are telling you and go ahead and request testing or an MRI. Also know, that I have had some really really really bad times trying to wrap my head around all of this. I have been depressed, so upset that I have had to leave work, and almost completely consumed by all of this. It does get better and this is the best place for support. One of the members here gave me the most inspiring advice.....they said to me stop questioning God for giving you a child like this, but thank him for allowing you to take care of this child because you are the mommy that can be loving caring and the type of mommy your little one needs. All of the Best and I will be thinking of you!

SnazzySox

I'm one of the other very worried mothers out here. Recently, I just read a new health report that said that frequent anesthesia can cause developmental delays. Frequent meaning more than ONE. I think that's significant. While we want definitive answers, even the NF geneticist is not recommending an MRI. I don't think the anesthesia is the reason for her decision, though it might be part of it. She has just said she does not think it's necessary because she does not think he is affected with NF. My point is that is that infants require anesthesia for MRI because they have to be sedated. I think it's important to weigh the pros and cons of alleviating one's fears. I am trying to put my own fears into perspective. I don't want to do him harm in trying to ease my own anxiety, and yet I want to know if he has a condition that we must medically treat/monitor.

CindyLouWho

Sox, I saw that article too...very interesting. I think you raise a good point. It is a matter of balancing risk versus benefit in opting for some of these procedures. It is a debate that has come up on several occasions within the NF community, parents don't agree and physicians don't agree either. Where I am MRIs for example are not automatic even in cases of obvious NF....I doubt it would ever be approved here as a diagnostic tool.

I just want to say that there is genetic testing available for NF through the University of Alabama. It is 95% accurate for people showing two signs of the disorder. There are no false positives. Sometimes there are false negatives but a false negative is not common. A false negative in some cases may be attributed to the patient having mosaic NF, which is a possibility that some finding comforting since mosaic NF tends to be associated with a milder form of the disorder.

Sometimes all the doctor's app'ts in the world don't put a mom's fear at rest. :(

Cindy

SnazzySox

CindyLou,

The first geneticist we saw has agreed to order the blood test for our son because we have requested it. He has no other signs and she doesn't feel that his cafe au lait qualify as even one criteria. But to put our minds at ease, she is going to order it. The insurance doesn't cover it, and it is expensive. I don't care. We'll pay. I do have some concerns about the accuracy of the test. She said it is not 100% and very complex. I think it would either tell us if he has it or give us a little piece of mind. What would be the chances of him really not meeting the criteria AND getting a false negative?

She used the word "mosaicism" to describe his birthmarks because he has a hyopigmented one as well as the few cafe au lait marks. Two geneticist who work at the NF clinic and have both mentioned the fact that his father and I have distinctly different skin colors and that sometimes this can cause some pigmentation "birthmarks." They said they've seen it many times before, but it's not interesting enough to do papers on and research, which is why we can find NOTHING about it online. My nephew has light and dark birthmarks too. Even the dermatologist, who is of mixed race, that I took him to yesterday shared her birthmarks with me. I know that this has been discussed before and that people have mixed raced children WITH NF, but I just wonder what the research has been with the prevalence of cafe au lait in the healthy population of children with parents of significantly different skin tones. This would be a small population and that sort of research simply isn't happening. It's similar to the criteria for tuberous sclerosis with the ash-leaf macule or hypopigmented macule. For many, many years it was the cardinal feature of the TS. Just one. Then they finally researched it and now the criteria changed. One to three in the healthy population. That's a significant change. Most people who have TS have hypopigmented macules but not all people with hypopigmented macules have TS. The geneticists are telling me the same is true with the cafe au lait marks. They seem to be going against current literature, but these two geneticist are well-published in the field. So, I'm miffed.

CindyLouWho

Sox, You are correct about the ash leaf spots of TS....in fact, I had a white birthmark and I do not have TS. I met a cardiologist whose child had two white spots, she freaked out but in the end her child did not have TS either. Aside from TS, hypopigmented marks are sometimes seen in NF but it was explained to me that anytime pigment is disturbed, for whatever reason, there is likely to be both hyper and hypo pigmentation.

This is purely my understanding of things....97% or more of folks with NF have CALS of the approriate number and size so as to fulfill criteria. Anything over three CALS is highly suggestive of some neurological disorder, NF being the most common. Six is the stipulated criteria, I assume to give an margin of error so that there is no question that the person definitely meets that standard. However, and here is where it gets tricky for some folks.....people of African American descent or other similar backgrounds are just more likely to have CALS in general without it being indicative of a neurological issue. In those cases, the clinician really has a couple of choices....to pursue the testing, to go by clinical experience as to whether the CALS appear typical of NF, and to wait to see if other features develop. A lot of folks are in that wait and see limbo, sometimes for years. Therefore, I believe the reason your geneticist is saying these things is because of your child's unique heritage along with how your child's CALS compare with typical NF CALS....for the rest of us the "greater- than-three-is-suspicious" and "six-is-one-criteria" rule applies.

Hard to say what the chances of a false negative would be. In fact, and I have seen this in writing, what that stat means is that they believe they are able to identify 95% of NF mutations for people with two signs. Therefore 5% of NF mutations are not identifiable even for people with two signs. Mosiacism often does not show up on the genetic testing. The earlier the mutation though the more likely the person is going to have more features of NF. The later mutations often result in just CALS, or neurofibromas, or both in limited distribution but without the more serious complications of NF. If your child gets a negative on the test, I would think you should be able to sleep nights...that the negative test along with the comments made by the doctors should be reassuring.

I know how frustrating this can be. My daughter has no regular CALS. None. She does have a huge amount of axillary freckling under one arm and another weird area of hyperpigmentation that is not a CAL. She has a couple of white spots that are confetti shaped. She has a few soft signs of NF. Go figure....

If it helps, I have seen pictures on the net of hyperpigmented CAL like confetti spots on dark skinned folks...whether they were Spanish, Indian or African American kids I can't recall but they did not have NF.

Cindy

rivergrl21

I just wanted to weigh in on a few topics that have come up on this post.
My son has approx 60 CALs which began popping up at 3 weeks of age. We went through the hysterics of what, when, why and how for months and still do no have all the answers. We were referred to an entire team at the children hospital after the initial MRI showed abnormalites in the brain including a fairly large optic tumor in the chiasm which is a VERY tiny space that can cause many problems. His first MRI was done when he was only 9 months old. The hospital didn't have as much of a problem putting him under as they did with the dye they had to inject. They were very concerned and had to consult several Drs while we were there. Apparently the contrast dye is not recommended for children under like 5yr of age. They said it settles into the kidneys or liver and causes failure if not flushed out really well. They did end up doing it anyway but really pushed the fact that we needed to give him a bottle of water or juice every hour or two for the first 24 hrs to prevent problems. I was really concerned for him. They are requiring us to do another next month to check for growth of that tumor. He is now 15 months old. In our case it is important to see how that tumor is going to act. It can cause headaches and visual loss and with him being so young he cannot tell us what is wrong until it is too late. However, the surgeon gave us a bit of advise that made a lot of sense. He said that throughout the lifetime of an individual with NF there may be many tumors, however many come and go on their own and some never cause a problem at all. He said that if we go looking for a problem we will certainly find one but it may be something we don't need to worry about. Unless we see a physical problem why make yourself sick looking for one. So depending on how this MRI comes out we may be able to put off future MRI's for a little longer.

As for the CAL spots I did a lot of research and was told that they are a direct result of a build up of melanin which is caused by the same chemical that allows a buildup of the nerve sheath translating to tumors. It is a all a result of the NF gene malformation that does not effectivly stop that natural buildup in a normal body. This is why more than 6 CALs may very well hint of a neurological disorder which is allowing these buildups to occur. Having only a few is generally ok because occasional buildup of melanin is nothing to worry about. It is the out of control buildup that is concerning.

I understand how difficult it is not to have answers and I have learned that EVERY person dealing with a child with NF has the SAME worries. It is scarey that it is SO out of your control and nobody can tell you what to expect for your child. Please do remember as many have already said...your child could be only mildly affected. My son has a more severe case and each day I fear the next problem for him. But that is only natural for a mother. He does not see my worries and I spend each and every minute loving him unconditionally. Even my two other children 6 & 8 do not know he has a disorder. He will be special but not because he is treated as being handicapped but because he is given every opportunity that a child deserves. He is only unique because God made him special. Be careful not to get caught up in the bad. He is still a baby boy who needs a strong and loving mother to guide him through. Enjoy your little ones while you can. Please feel free to message me if you evern need to talk or just vent. We all need it once in a while.

Frenscisca

Hello,

Here is a link that can give you maybe some more information it's About The Children's Tumor Foundation.

http://www.youtube.com/watch?v=3Doh9oPiThE

HisMom

I'm another mom with a baby who has CALS but no other signs of NF. CindyLou (always so informed and helpful--thank you!) mentioned the "greater than three is suspicious" rule. Does that mean three CALS of any size? or three CALS of qualifying size? My baby has six CALS, but only two are of qualifying size, so I'm trying to figure out how freaked out I should be. I manage my fears by reading these posts every morning and it really is helping. I'm taking away a commitment to support organizations like the Children's Tumor Foundation, whether or not my kid has this. Thank you to everyone.

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