mkchaikof@gmail.com mkchaikof<br/>    Date: Fri Nov 5, 2010 7:50 pm ((PDT))<br/><br/>What you describe sounds like Waardenburg Syndrome.  The larger than average space between the eyes, the unibrow, and the skin patch discolorations are all part of W.S.  Unfortunately, not all W.S. genes have been discovered yet, and so a genetic test would not be conclusive.  Do you have any white forelocks or heterochromia (2 different colored eyes) in your family?<br/><br/><br/><br/>Melissa Chaikof<br/>Cochlear Awareness Volunteer<br/>Rachel N22 12/89 and BiCI N24C 3/04, Jessica BiCI N22 5/96 left and<br/>N24C 5/04 right, Adam normal hearing<br/><http://www.auditoryverbalparents.com> www.auditoryverbalparents.com<br/><http://www.cochlearimplantonline.com> www.cochlearimplantonline.com<br/><br/><br/><br/><br/><br/><br/><br/><br/><br/><br/><br/>From: XXXXXXXXXXXXXXXXXXXXXXXX [mailto:XXXXXXXXXXXXXXXXXXXXXXXX] On Behalf Of Shandra Reiswig<br/>Sent: Friday, November 05, 2010 6:42 PM<br/>To: XXXXXXXXXXXXXXXXXXXXXXXX<br/>Subject: Re: [cicircle] Re: Eye exam and ERG<br/><br/><br/><br/>  <br/><br/><br/>When I read your email, I noticed similarities between my daughter and yours- and yet I have no idea what fetal finger pads are. Can anyone define? We were told by the Geneticist Brin has small sinus cavities, unibrow, narrow tongue, some skin patch discolorations, larger than average space between eyes and extra small dented toe nails (among a few other things) upon examination. <br/><br/>We are waiting to schedule our ERG. <br/><br/>Shandra Reiswig<br/>http://beautifulbrinley.blogspot.com<br/><br/>Sent from my iPhone, so please excuse my concision and inevitable typos :)<br/><br/>On Nov 3, 2010, at 6:30 PM, "Sarah L" <smskeie@yahoo.com <mailto:smskeie%40yahoo.com> > wrote:<br/><br/>> Kacie,<br/>> <br/>> You are the first person that I know of who even knows what fetal finger pads are. Did your geneticist give you a possible diagnosis?<br/>> <br/>> Sarah L.<br/>> <br/>> --- In XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com> , "kaciek14" <kacie.fyrberg@...> wrote:<br/>> ><br/>> > Hi Sarah, <br/>> > I would also be interested to hear any updates on your daughter. My daughter's case sounds very similiar. She was born profoundly deaf and has had gross motor delays/balance issues. She will be 2 on Nov. 20th and just started walking independently last month...very wobbly still, but finally doing it on her own. Usher Syndrome has been discussed a lot with her, and she has had lots of testing which has turned up negative so far. She is going for her 2nd implant in December and they will do an ERG at that time, so we are anxious for those results as well. She saw a geneticist last year and he mentioned fetal pads. We have not been back to see him, but once we get through the surgery, we will do that early next year. She is doing really well, so we are encouraged by her progress, so sometimes feel like we should stop searching for a cause when we are aware that we may never find one. But some days, it feels like an explanation of her situation would be nice. Anyhow, it is just always interesting to hear someone else in a similar situation. I look forward to any updates. Good luck and take care. <br/>> > <br/>> > Kacie F. <br/>> > Mom to Grace, 23 months, Nucleus 5 12/09 and soon-to-be 12/10<br/>> > --- In XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com> , "Sarah L" <smskeie@> wrote:<br/>> > ><br/>> > > I have questioned Waardenburg as well. She has very blue eyes and I know that can be a symptom, but blue eyes run in both my and my husbands families. Both of our fathers have blue eyes. The geneticist didn't think it was Waardenburg, but at that time we didn't know about her hypopigmented retinas. Aside from being deaf and having balance issues, she really has no other deficits. Another physical trait she has is persistent fetal finger pads. The geneticist pointed this out to us, I never really noticed it before, but she said that it can point to a few different syndromes. We will meet with her again after the results of the ERG are in. I will bring up Waardenburg again. I pretty much have myself convinced it is either Usher, Waardenburg, or a combination of both. I know that with Waardenburg only one parent has to have the gene, and with Usher, we would both have to be carriers. So much to think about.... I will post the ERG results when they come in. Thanks for the info Melissa.<br/>> > > <br/>> > > Sarah L.<br/>> > > <br/>> > > --- In XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com> , "Melissa K. Chaikof" <mkchaikof@> wrote:<br/>> > > ><br/>> > > > My daughter had the same thing. However, we were told it has nothing to do<br/>> > > > with Usher Syndrome. RP results in dark spots on the retina, not lighter<br/>> > > > spots. Have you looked into Waardenburg Syndrome? There is a good chance<br/>> > > > we have both Waardenburg and Usher, and we were told that the hypopigmented<br/>> > > > retinas can be part of Waardenburg Syndrome. I would be curious to learn<br/>> > > > your ERG results when you get them back as my daughter is the only other one<br/>> > > > we know with the hypopigmented retinas. Waardenburg Syndrome can include<br/>> > > > some of the same vestibular issues that Usher has.<br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > Melissa Chaikof<br/>> > > > Cochlear Awareness Volunteer<br/>> > > > Rachel N22 12/89 and BiCI N24C 3/04, Jessica BiCI N22 5/96 left and<br/>> > > > N24C 5/04 right, Adam normal hearing<br/>> > > > <http://www.auditoryverbalparents.com> www.auditoryverbalparents.com<br/>> > > > <http://www.cochlearimplantonline.com> www.cochlearimplantonline.com<br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > From: XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com>  [mailto:XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com> ] On Behalf<br/>> > > > Of Sarah L<br/>> > > > Sent: Friday, October 29, 2010 10:57 AM<br/>> > > > To: XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com> <br/>> > > > Subject: [cicircle] Eye exam and ERG<br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > Hi all,<br/>> > > > <br/>> > > > On Tuesday and Wednesday, we took Aliyah back to the University of Minnesota<br/>> > > > and had an extensive eye exam and an ERG. Of course we will not have the<br/>> > > > results from the ERG for a few weeks, but they did tell us that the back of<br/>> > > > her eyes are very light colored, lighter than normal. She is a fair skinned,<br/>> > > > blonde, blue eyed girl so they thought that this could be why she is so<br/>> > > > light pigmented in the back of her eye, but of course the ERG will tell all.<br/>> > > > I am just wondering if any of your kiddies with Ushers have light pigment in<br/>> > > > the back of the eyes? I am just really anxious for these results. We just<br/>> > > > want an answer. Our 7 month old is hearing so far and doesn't have any of<br/>> > > > the vestibular issues Aliyah has, but I would like to know if he has what<br/>> > > > she has and it just hasn't presented yet. Sorry, I am rambling now...<br/>> > > > Thanks.<br/>> > > > <br/>> > > > Sarah L. Mom to Aliyah almost 2 1/2, bilateral Freedoms; Anthony 7 months,<br/>> > > > hearing.<br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > [Non-text portions of this message have been removed]<br/>> > > ><br/>> > ><br/>> ><br/>> <br/>> <br/><br/>[Non-text portions of this message have been removed]<br/><br/><br/><br/><br/><br/>[Non-text portions of this message have been removed]<br/><br/><br/><br/><br/><br/><br/>Messages in this topic (11)<br/>________________________________________________________________________<br/>1b. Re: Eye exam and ERG<br/>    Posted by: "Melissa K. Chaikof" mkchaikof@gmail.com mkchaikof<br/>    Date: Fri Nov 5, 2010 7:53 pm ((PDT))<br/><br/>I would ask a retinal specialist.  I don’t know the answer, but I wouldn’t think an otolaryngologist would have the same level of expertise as a specialist in the field.<br/><br/><br/><br/>Melissa Chaikof<br/>Cochlear Awareness Volunteer<br/>Rachel N22 12/89 and BiCI N24C 3/04, Jessica BiCI N22 5/96 left and<br/>N24C 5/04 right, Adam normal hearing<br/><http://www.auditoryverbalparents.com> www.auditoryverbalparents.com<br/><http://www.cochlearimplantonline.com> www.cochlearimplantonline.com<br/><br/><br/><br/><br/><br/><br/><br/>From: XXXXXXXXXXXXXXXXXXXXXXXX [mailto:XXXXXXXXXXXXXXXXXXXXXXXX] On Behalf Of jimjulierobbins@comcast.net<br/>Sent: Friday, November 05, 2010 8:20 PM<br/>To: XXXXXXXXXXXXXXXXXXXXXXXX<br/>Subject: Re: [cicircle] Re: Eye exam and ERG<br/><br/><br/><br/>  <br/><br/><br/><br/>I have a question for all of you.  Jack had an ERG at 9 mos old and I was told that his test was the lower range of normal and to have it retested at 3.  Our Otolarengolist told us that with the test you either have it or you dont and suggested that we not have the test again.  I have always worried about it....have you ever heard of a lower range normal ERG..... how does that work....what do you guys suggest... <br/><br/>Julie <br/><br/>----- Original Message ----- <br/>From: "Shandra Reiswig" <shandrareiswig@clearwire.net <mailto:shandrareiswig%40clearwire.net> > <br/>To: XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com>  <br/>Sent: Friday, November 5, 2010 5:42:08 PM <br/>Subject: Re: [cicircle] Re: Eye exam and ERG <br/><br/>  <br/><br/>When I read your email, I noticed similarities between my daughter and yours- and yet I have no idea what fetal finger pads are. Can anyone define? We were told by the Geneticist Brin has small sinus cavities, unibrow, narrow tongue, some skin patch discolorations, larger than average space between eyes and extra small dented toe nails (among a few other things) upon examination. <br/><br/>We are waiting to schedule our ERG. <br/><br/>Shandra Reiswig <br/>http://beautifulbrinley.blogspot.com <br/><br/>Sent from my iPhone, so please excuse my concision and inevitable typos :) <br/><br/>On Nov 3, 2010, at 6:30 PM, "Sarah L" < smskeie@yahoo.com <mailto:smskeie%40yahoo.com>  > wrote: <br/><br/>> Kacie, <br/>> <br/>> You are the first person that I know of who even knows what fetal finger pads are. Did your geneticist give you a possible diagnosis? <br/>> <br/>> Sarah L. <br/>> <br/>> --- In XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com>  , "kaciek14" <kacie.fyrberg@...> wrote: <br/>> > <br/>> > Hi Sarah, <br/>> > I would also be interested to hear any updates on your daughter. My daughter's case sounds very similiar. She was born profoundly deaf and has had gross motor delays/balance issues. She will be 2 on Nov. 20th and just started walking independently last month...very wobbly still, but finally doing it on her own. Usher Syndrome has been discussed a lot with her, and she has had lots of testing which has turned up negative so far. She is going for her 2nd implant in December and they will do an ERG at that time, so we are anxious for those results as well. She saw a geneticist last year and he mentioned fetal pads. We have not been back to see him, but once we get through the surgery, we will do that early next year. She is doing really well, so we are encouraged by her progress, so sometimes feel like we should stop searching for a cause when we are aware that we may never find one. But some days, it feels like an explanation of her situation would be nice. Anyhow, it is just always interesting to hear someone else in a similar situation. I look forward to any updates. Good luck and take care. <br/>> > <br/>> > Kacie F. <br/>> > Mom to Grace, 23 months, Nucleus 5 12/09 and soon-to-be 12/10 <br/>> > --- In XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com>  , "Sarah L" <smskeie@> wrote: <br/>> > > <br/>> > > I have questioned Waardenburg as well. She has very blue eyes and I know that can be a symptom, but blue eyes run in both my and my husbands families. Both of our fathers have blue eyes. The geneticist didn't think it was Waardenburg, but at that time we didn't know about her hypopigmented retinas. Aside from being deaf and having balance issues, she really has no other deficits. Another physical trait she has is persistent fetal finger pads. The geneticist pointed this out to us, I never really noticed it before, but she said that it can point to a few different syndromes. We will meet with her again after the results of the ERG are in. I will bring up Waardenburg again. I pretty much have myself convinced it is either Usher, Waardenburg, or a combination of both. I know that with Waardenburg only one parent has to have the gene, and with Usher, we would both have to be carriers. So much to think about.... I will post the ERG results when they come in. Thanks for the info Melissa. <br/>> > > <br/>> > > Sarah L. <br/>> > > <br/>> > > --- In XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com>  , "Melissa K. Chaikof" <mkchaikof@> wrote: <br/>> > > > <br/>> > > > My daughter had the same thing. However, we were told it has nothing to do <br/>> > > > with Usher Syndrome. RP results in dark spots on the retina, not lighter <br/>> > > > spots. Have you looked into Waardenburg Syndrome? There is a good chance <br/>> > > > we have both Waardenburg and Usher, and we were told that the hypopigmented <br/>> > > > retinas can be part of Waardenburg Syndrome. I would be curious to learn <br/>> > > > your ERG results when you get them back as my daughter is the only other one <br/>> > > > we know with the hypopigmented retinas. Waardenburg Syndrome can include <br/>> > > > some of the same vestibular issues that Usher has. <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > Melissa Chaikof <br/>> > > > Cochlear Awareness Volunteer <br/>> > > > Rachel N22 12/89 and BiCI N24C 3/04, Jessica BiCI N22 5/96 left and <br/>> > > > N24C 5/04 right, Adam normal hearing <br/>> > > > < http://www.auditoryverbalparents.com > www.auditoryverbalparents.com <br/>> > > > < http://www.cochlearimplantonline.com > www.cochlearimplantonline.com <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > From: XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com>  [mailto: XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com>  ] On Behalf <br/>> > > > Of Sarah L <br/>> > > > Sent: Friday, October 29, 2010 10:57 AM <br/>> > > > To: XXXXXXXXXXXXXXXXXXXXXXXX <mailto:cicircle%40yahoogroups.com>  <br/>> > > > Subject: [cicircle] Eye exam and ERG <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > Hi all, <br/>> > > > <br/>> > > > On Tuesday and Wednesday, we took Aliyah back to the University of Minnesota <br/>> > > > and had an extensive eye exam and an ERG. Of course we will not have the <br/>> > > > results from the ERG for a few weeks, but they did tell us that the back of <br/>> > > > her eyes are very light colored, lighter than normal. She is a fair skinned, <br/>> > > > blonde, blue eyed girl so they thought that this could be why she is so <br/>> > > > light pigmented in the back of her eye, but of course the ERG will tell all. <br/>> > > > I am just wondering if any of your kiddies with Ushers have light pigment in <br/>> > > > the back of the eyes? I am just really anxious for these results. We just <br/>> > > > want an answer. Our 7 month old is hearing so far and doesn't have any of <br/>> > > > the vestibular issues Aliyah has, but I would like to know if he has what <br/>> > > > she has and it just hasn't presented yet. Sorry, I am rambling now... <br/>> > > > Thanks. <br/>> > > > <br/>> > > > Sarah L. Mom to Aliyah almost 2 1/2, bilateral Freedoms; Anthony 7 months, <br/>> > > > hearing. <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > <br/>> > > > [Non-text portions of this message have been removed] <br/>> > > > <br/>> > > <br/>> > <br/>> <br/>> <br/><br/>[Non-text portions of this message have been removed] <br/><br/>[Non-text portions of this message have been removed]<br/><br/><br/><br/><br/><br/>[Non-text portions of this message have been removed]<br/><br/><br/><br/><br/><br/><br/>Messages in this topic (11)<br/>________________________________________________________________________<br/>________________________________________________________________________<br/>2a. Re: Positive ERG<br/>    Posted by: "Barbara Mellert" Barbara.T.Mellert@Dartmouth.edu btmellert<br/>    Date: Fri Nov 5, 2010 7:52 pm ((PDT))<br/><br/>I'm sending you lots of hugs, Sarah.  I'm glad you and Melissa are in touch.<br/><br/>Barbara<br/><br/>On 11/5/2010 9:34 PM, Sarah L wrote:<br/>> Thank you so much for all of the support and prayers, it is people like you who make this all easier.  I am still trying to absorb it all, but in time it will get better.<br/>><br/>> Sarah<br/>><br/>><br/>> --- In XXXXXXXXXXXXXXXXXXXXXXXX, jimjulierobbins@... wrote:<br/>>><br/>>><br/>>> Sarah,<br/>>><br/>>><br/>>><br/>>> My thoughts are with you and your family.  I know it may seem like news you cannot handle right now.....but you can!  You will!  Let the tears fall don't hold them back you need to release them, its healthy.  Your daughter is going to have a sucessful life, she will especially with you as her mom.<br/>>><br/>>><br/>>><br/>>> Prayers to you....<br/>>><br/>>><br/>>><br/>>> Julie Robbins<br/>>><br/>>><br/>>><br/>>> ----- Original Message -----<br/>>> From: "Sarah L"<smskeie@...><br/>>> To: XXXXXXXXXXXXXXXXXXXXXXXX<br/>>> Sent: Friday, November 5, 2010 2:35:22 PM<br/>>> Subject: [cicircle] Positive ERG<br/>>><br/>>>  <br/>>><br/>>><br/>>><br/>>><br/>>> Hi, I am writing this through a heavy fall of tears, so bear with me. I got a call from the opthamologist and Aliyah's ERG shows significant abnormalities. He is going to get in contact with our geneticist so we can proceed with testing to narrow down the exact mutation, but it is for sure Usher. PLEASE HELP! I don't know where to go from here!<br/>>><br/>>> Sarah L<br/>>> mom to Aliyah<br/>>><br/>>><br/>>><br/>>><br/>>> [Non-text portions of this message have been removed]<br/>>><br/>><br/>><br/>><br/>> ------------------------------------<br/>><br/>> Under no circumstances are the comments on this list to be used for research, publication, etc., without the express consent of the person who posted. This list is not to be used for commercial purposes.  Yahoo! Groups Links<br/>><br/>><br/>><br/><br/><br/><br/><br/><br/>Messages in this topic (9)<br/>________________________________________________________________________<br/>________________________________________________________________________<br/>3a. Re: I have to share :-)<br/>    Posted by: "Naomi Higgs" XXXXXXXXXXXXXXXXXXXXXXX naomihiggs<br/>    Date: Fri Nov 5, 2010 8:06 pm ((PDT))<br/><br/>Way to go Thom...but equally way to go Mom - you were the one that believed.....<br/><br/>Naomi : - )<br/><br/><br/><br/><br/><br/>________________________________<br/><br/><br/>--- On Fri, 11/5/10, Barbara Mellert <Barbara.T.Mellert@Dartmouth.edu> wrote:<br/><br/>From: Barbara Mellert <Barbara.T.Mellert@Dartmouth.edu><br/>Subject: [cicircle] I have to share :-)<br/>To: XXXXXXXXXXXXXXXXXXXXXXXX<br/>Date: Friday, November 5, 2010, 10:18 AM<br/><br/><br/><br/>I have two boys, 18 and 16, who both have bilateral cochlear implants. <br/><br/>They both started out with hearing aids (neither was diagnosed young - <br/><br/>my older son was 3-1/2), we've been a CI family for the past 5 years or <br/><br/>so.  And I know many of you know this already!<br/><br/>Thom, my 18 year old, is a senior in our town's high school.  Last night <br/><br/>the play he's in opened - the play is You Can't Take it With You.  Thom <br/><br/>had the lead!  Oh my gosh - he and all the kids did such a wonderful <br/><br/>job.  And I couldn't help but think back to 15 years ago almost to the <br/><br/>day when he got his first set of hearing aids and I wondered if I'd ever <br/><br/>be able to talk to him.  When they did the curtain call, he came on <br/><br/>stage last and I started crying!<br/><br/>So was it Julia talking about "normal"?  It's hard to say too much good <br/><br/>about the impact both boys' CIs have had on their lives.<br/><br/>Barbara<br/><br/>Mom to Thom, 18, bilateral Nucleus Freedoms and<br/><br/>Sam, 16, bilateral N5s<br/><br/>[Non-text portions of this message have been removed]<br/><br/><br/><br/><br/><br/>      <br/><br/>[Non-text portions of this message have been removed]<br/><br/><br/><br/><br/><br/><br/>Messages in this topic (25)<br/>________________________________________________________________________<br/>3b. Re: I have to share :-)<br/>    Posted by: "France Mercier" fhm@rogers.com <br/>    Date: Fri Nov 5, 2010 9:04 pm ((PDT))<br/><br/>Congratulations to both you and Thom.....what  a proud moment!!!<br/> <br/>France M<br/><br/>--- On Fri, 11/5/10, Barbara Mellert <Barbara.T.Mellert@Dartmouth.edu> wrote:<br/><br/><br/>From: Barbara Mellert <Barbara.T.Mellert@Dartmouth.edu><br/>Subject: [cicircle] I have to share :-)<br/>To: XXXXXXXXXXXXXXXXXXXXXXXX<br/>Date: Friday, November 5, 2010, 2:18 PM<br/><br/><br/>  <br/><br/><br/><br/>I have two boys, 18 and 16, who both have bilateral cochlear implants. <br/>They both started out with hearing aids (neither was diagnosed young - <br/>my older son was 3-1/2), we've been a CI family for the past 5 years or <br/>so. And I know many of you know this already!<br/><br/>Thom, my 18 year old, is a senior in our town's high school. Last night <br/>the play he's in opened - the play is You Can't Take it With You. Thom <br/>had the lead! Oh my gosh - he and all the kids did such a wonderful <br/>job. And I couldn't help but think back to 15 years ago almost to the <br/>day when he got his first set of hearing aids and I wondered if I'd ever <br/>be able to talk to him. When they did the curtain call, he came on <br/>stage last and I started crying!<br/><br/>So was it Julia talking about "normal"? It's hard to say too much good <br/>about the impact both boys' CIs have had on their lives.<br/><br/>Barbara<br/>Mom to Thom, 18, bilateral Nucleus Freedoms and<br/>Sam, 16, bilateral N5s<br/><br/><br/><br/><br/><br/><br/><br/>[Non-text portions of this message have been removed]<br/><br/><br/><br/><br/><br/><br/>Messages in this topic (25)<br/><br/><br/><br/>Under no circumstances are the comments on this list to be used for research, publication, etc., without the express consent of the person who posted. 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