Special Needs

Hello again- and ?'s (sorry- long :))

Hi All,

I haven't posted in a while 1) because my computer was not able to load the page for a while and 2) because of this crap that we are going through.

Wondering if anyone on here has any experience with Tuberous Sclerosis or Beckwith Weidemann syndrome?  My two kids (DS is 3 and DD is 20 months) are both being evaluated for each.  

Background:  I came on here originally because my DD had feeding refusal issues.  She started at 9 weeks, and now, at 20 months is a bit better.  We have flirted with a tube for this entire time, but she seems to be getting better.  We have done feeding therapy and went to a feeding clinic, all which were so-so.  It just took her some time, and now she seems to be doing better.  :)

Then, in April, she started showing signs of seizures.  She would drop her head and roll her eyes back in clusters of 2 or 3, normally at mealtimes, but at a few other occasions as well.  So, we got her in for a 1 hour sleep-deprived EEG and 48 hour VEEG.  The weekend before the VEEG happened, we noticed a hyperpigmentation mark on her upper arm.  We pointed it out to the neuro after the 48 hour VEEG was complete and he ordered a MRI on the spot (we were in the hospital for the VEEG).  All came back normal.  She still has these episodes, but they have subsided, now are back a little more, but seem almost behavioral (or, so we think).

I haven't been able to shake the feeling that the feeding, episodes and mark seem related.  I had done some research on TSC, but the neuro said we will just take a wait-and-see approach, and proceed if things get worse.  Well, her head hadn't been growing either, so they scratched that, and we go back for a checkup in 3 weeks.  

Then, I read about Beckwith-Weidemann Syndrome (all of this has been gathered from online support boards I have gone to).  Well, my DS (who has always been my super healthy one) has 4 out of the 5 signs for this (was over the 99th% for height and weight at birth until 2, had umbilical and testicle hernias, large tongue that is now proportionate; and what I think is a shallow ear pit.)  He never showed signs of a stork bite or low blood sugars.  

So, we see a clinic with many Peds.  For my son, we have really never seen one person, we just get in to whomever is free.  Big mistake!  For my daughter, we started seeing an ARNP, but a doctor that we saw in an ER (for the possible seizures) said we should really transfer her care to a doctor.  So, I scheduled an appt with the Ped that we saw 'the most' and went in yesterday with both kids.  I typed up all the symptoms that I thought they had, as well as a family background and printoffs from the web of NF-1, TSC and BWS.  Family background (my mom passed from complications of MS, her sister has MS, another sister died of a brain tumor, and I have 2 cousins on that side with brain tumors.  My DH's mother had breast cancer that eventually spread to her whole body, including brain, and passed 3 years ago).

The Ped checked my DS and said that his tongue didn't interfere with eating/sleeping/breathing issues when he was younger, and she didn't consider the ear pit an actual pit, so she didn't see the need for referral to genetics, or getting him screened (if he does have BWS you need to be screened for fast growing tumors by quarterly abdominal ultrasounds and blood draws every 6 weeks).  I asked if we could just get a screen to put me at peace, but she didn't think it was necessary.

Then the Ped checked my DD.  She did a Wood lamp test (black light) and saw 2 ash leaf spots and at least one cafe-au-lait spot.  She didn't clinically diagnose us, but said to go forward with genetics testing.  She also gave us a referral to an ophthalmologist, because of the fear of optic tumors (TSC also carries the risk of tubers or tumor growths).  I had scheduled my daughter for genetic testing a while back (self referral) because I wanted answers, and I got her in, because she sees a feeding specialist through the system (university of Iowa hospital).  I tried to schedule my son for a genetics test as well, and they scheduled him right after my daughter's time, but needed a referral because he is not in their system.  My Ped wouldn't give one, because she said they are really expensive (no duh) and she didn't think he showed enough serious signs.  

I have been in touch with the BWS Foundation, and they are working on locating me a specialist to try to re-evaluate, and I have been calling the Medical Directors of the hospitals here to find out if anyone knows of BWS who can help us get a referral for genetics testing.

So, long story- but here is where I am at.  I am a wreck.  I kinda figured that there was something going on with DD; but it actually seems that I was right now.  I have always 'self-diagnosed' her and was wrong, and I don't know why, but it helped to rule those bad things out always.  I was kinda hoping for that this time.  Now, I may have been right, and am a mess.  Also, I don't know what to do about my son.  I am worried, and feel super guilty that this wasn't caught earlier (if there is something to be caught).  If he has BWS, it needs constant monitoring until age 10, when the risk pretty much drops off.  So, I don't see how bad it could be to just get him some maintenance checks for a few more years, or at least the genetic testing (which the blood test only carries a 64% success rate- so clinical analysis is also key). 

Okay- now that you have read my book :)  Any thoughts?  Help?  I am also scheduled to see a counselor for my mental health- as I am really struggling, and I think may have had an anxiety disorder prior to all of this anyways.

Thanks so much and glad to be back!

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Re: Hello again- and ?'s (sorry- long :))

  • -T--T-
    250 Answers 500 Comments Fourth Anniversary 100 Love Its
    I made it through and I can't imagine how hard this is on you to have both of your kids in and out if clinics so frequently. I don't have a lot of advice other than to maybe get a second opinion to get a referral. I don't understand why that ped won't give one even though there is so much going on in your family medical history. I hope you get some answers soon. The waiting game is so hard. Good luck!
  • MyPB&JMyPB&J
    First Comment First Anniversary
    My son has TSC. A few things..
    Did your child have one of the episodes during the vEEG? If not, it's so hard to say what is going on there. Try to catch it on video and show to your neuro. Also, make sure you are at a children's hospital and seeing a pedi neuro, preferably one with a background in TSC or NF.
    Push for an appointment with a genetic counselor. They will help you make sure insurance will cover genetic testing. Our results took 9 weeks.
    As for the skin markings, I would only be concerned because of the other issues you are also dealing with. We go to the TSC clinic in Cincy, and they say 3 or more ash leaf molecules indicates a likely problem neuro or derm.
    The great news is your MRI was clear and vEEG was normal. Best of luck getting more answers. A TSC diagnosis is scary, but the waiting was possibly the hardest part.
  • Thank you all so much!  I missed this board!!! 

    Because my gut just doesn't sit with the BWS stuff- I contacted the BWS Foundation, and sent photos of my DS when he was 4 months old and now.  They sent on to a BWS specialist in another state, who stated that, with the photos and history, BWS is likely, and we need to push for a referral.  That is a mixed feeling there.  At least I don't feel so crazy for continuing on.

    For my DD, she did have an episode (just one) on the VEEG.  I was so glad, because otherwise, we were going to get sent home with an EEG and backpack with video to wait indefinitely to get one (however, I am super happy that her neuro felt the necessity).   It didn't show as having seizure activity-

    The one thing that scares me, is that we first saw this ash leaf on her arm about a month ago, and now there is one on her back.  That makes me feel like there will be more, and coming on fast.  I am hoping not- because as you said MyPB&J, 3 or more seems to be the marker.  However, I know that 2 or more can say a probability.  Ugh- I hate this waiting also.  And, I am really scared for our future.  What once seemed to be just feeding hell, is now just all over hell :(

    Thanks for reading all of this.  I am just really emotional, and I keep going back in forth in terms of whether or not it will be alright.  I am just hoping for some horrible skin deformities, and not any other major risks.  Wow.  Never thought that sentence would come out of my mouth.  :/

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  • I don't have a lot of time right now so sorry for the short response but have you looked into LEOPARD syndrome? It is related to the syndrome my son has and a lot of what you are mentioning sounds similar.  Just another idea, I hope you figure out what is going on, that must be so frustrating!
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  • Thanks for the reply!  I have printed off Leopard Syndrome and I am bringing it with me to the doc!
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  • I did not have to wait for a dx or convince any doctors. Nate was dx'd with his chromosome deletions because they thought he had Trisomy 18. He didn't.

    I am also guilty of googling and based upon what I have found and Nate's physical/medical presentations:

    He should have Muscle Eye Brain disease. He doesn't.

    He should have Stickler Syndrome. He doesn't.

    He should have CHARGE syndrome. He doesn't.

    He has SWAN. Syndrome Without A Name. 

    See where I am going with this?

    It is good you are pushing to get genetic testing done and I hope that you can get some answers. Please stop making yourself crazy with google. Sometimes it is total waste of energy, stress and brain space. Wait until you know exactly what is going on. We will be here. Hugs.


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