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Mother And Daughter Both Diagnosed

Jaylasmom
0 Recommendations

O.K. so I take my 21 month old to her first neurologist appt. She has had a huge spot on her right rib cage that goes from her back to her stomach. We have always just thought this was her birthmark. We took her to her pediatrician for a routine check up. He looked at her spot and said it was seperated into 3 diff spots and did she have any more spots on her? I told him yes she had 2 more which made 5 now. But once I got home and really examined her I found 2 more so of course I panic and call him and he says he wants her seen by a neurologist. So I call and make the appt, it would have took her 3 months to get into the neurologist here so they said they had an opening in Danville the following Tuesday. So I took that appt. This next week was torture because I researched and researched and researched until I knew what this was. By the time we made it to the doctor I had my child and myself diagnosed. Tuesday comes we go down to Danville, so many emotions running through my husband and I we were almost sick. So the neurologist examines her, counts her spots and uses this wood light on her that is supposed to identify true CAL spots. So when they turn the lights off my daughter glowed on her face, stomach, arm pits and her back and groin area. Earlier in the appt I mentioned to the doc that I has similar spots that I got when I was a teenager. I have cysts all over my body and Im not sure whats really going on with me. So she puts this wood light on my arm where my CAL spot is and I glowed. When she put this light on my husband and aunt nothing glowed on them. She checked the cysts I have on my body because I have one on my chest and when she felt it she said it was most likely a tumor. In 2001 I had a abnormal EEG and was never notified until the other day when I went to go get the EEG records to take to this neurologist. Now here I am 27 with 2 children and their telling me I have neurofibromatosis as well as my baby? When asked about my 7 year old she said not to worry unless she has marks on her..however, I didnt develop mine until my early teens...so should I be concerned for her?? Our next step is to the eye doctor to get our eyes checked and Im taking our oldest to get her eyes checked as well. At the neurologist he said there was no need for a genetics test but this is something I need for myself so Im making the appt today I had her pediatrician write the referral yesterday. I dont understand how they can say its not needed..its the only 100% guarantee that this is what you have. They told me they couldnt give me a 100% yes but to leave there confident that this is what we have. I personally need that 100%.

Explore topics in this discussion:

Anxiety Neurofibromatosis

7 replies

sweetiecat

I understand your anxiety. You only need two criteria to be diagnosed. Have you looked those up? I'm sure you have. You've done your homework. Having that many CALS with the freckles in the arms and groin area are enough to diagnose your daughter and because she has it and you have CALS and small tumors, there is your criteria. Having the 100% blood test really isn't necessary and it has given false positives and false negatives before. You're doing the right thing by having your children examined and tested. Having an early diganoses for your daughter is good--she will benefit from it. I was wondering if you had any problems in school? Many people with nf have learning difficulties.. not always LD but just slow learning. I did and I so wish I would have been diagnosed as child because of the special education plans for kids now. Keep coming here for support-- this is a great place for it. But, keep in mind it can also be a frightening place to a parent with a newly dignosed child.

Veronica1117

I understand your concerns. I was diagnosed at a very young age with NF1. I didn't, however, have any testing done. My mother has NF1 so that, along with the spots, was enough to diagnose me. The same holds true for my one-year-old son. He has some spots and because I have the condition, he has been officially diagnosed. In fact, my son's neurologist said that he personally doesn't like to do the test for NF1 because it can often be inconclusive (giving a false negative).

I hope all goes well with you. We are all here if you need anything.

Jaylasmom

Sweetie I was in learning support from 7th until I graduated. I was fortunate to get the help I needed In School. I was born with lack of oxygen to my brain so we always just thought that was the reason I has these problems in school. This is just alll too much for us right now. I have no medical insurance and I do not know how to get it. When I got married in May they cut my insurance off. Im trying to work on that now so I can get myself the medical attention I need as well. This support group has helped me sooo much and Ive learned soo much. Even the doc was so surprised that I knew what was going on she knew I did my homework when It came to this. I told her i joined a support group and she thought it was a great Idea. I'm glad I found this group too because before I did find it I was seeing all bad stuff about this illness and now I see some positive, which has really helped me get through these past 2 weeks. THANK YOU!!

Raulargentina

The only thing I can add to the other friends is that is difficult to make image diagnose to children, they must sleep. Probably in my country technology is old. Drs told me and I heard from several other Drs that is not absolutely indispensable to do them, first you can detect problems by dermatological, neurological and/or ophtalmological diagnose and if you see something wrong you make images. Hope all this can help you, I´m so sad and worry about my son but the only thing we can do is to be very carefull and don`t transmit our anxiety to the kids. I´m trying to digest myself alone (or with my forum friends). Please tell me if you need to share more information to raulfgomez@yahoo.com.ar

Jaylasmom

Well we had a bad day today. Earlier this morning Jaylas right eye was not looking right. Really dont know how to explain, but as her mother I know what shes supposed to look like. We called the neurologist and she wanted us down there immediately so we take her down there to a opthomologist (didnt spell that correctly) they looked in her eye with a slit lamp and dialated her eyes and did a full examination he says he sees nothing. SUCH GOOD NEWS!!! we were sooo happy to hear that however, what was making her eye twitch and open very wide when she was running or when I picked her up? This is driving me crazy! Hearing the doc seen nothing behind her eyes was the best news ive heard since her being diagnosed. But it has me kind of feeling like if something is wrong we have to just sit around and wait for it to get worse. What can be causing this?? PLease Help!

Raulargentina

I suggest you to find another dr to have more than one point of view. Probably should be to make you to feel peacefull. You can look for specialists in www.nfinc.org.

sringo

Are you in Illinois? If so, Dr. Tonsgard is fantastic. He works out of University of Chicago. My daughter has been going to him since she was diagnoised at 2.

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