Again, I want to say "What's in a name?" Especially if its a name that no one is familiar with or have heard of before. It helps explain nothing to most of us. How is he? Good. What do they think it is? Wildervanck Syndrome. What's that? A rare birth disorder involving hearing loss, fusion of vertebrae and eye movement abnormalities. Have they confirmed it? Not yet, but with syndromes it currently seems to be the best fit at this time.
Wildervanck - Basically the triad of Duane Syndrome, Klippel-Feil deformity of the spine (neck fusion) and hearing loss, which can also have additional related anomalies. In 70% of patients, DS is the only disorder the individual has. However,
other conditions and syndromes have been associated with DS. These
include malformation of the skeleton, ears, eyes, kidneys, and nervous
system, as well as the following: Okihiro syndrome (an association of DS
with forearm malformation and hearing loss), Wildervanck syndrome
(fusion of neck vertebrae and hearing loss), Holt-Oram syndrome
(abnormalities of the upper limbs and heart), morning-glory syndrome
(abnormalities of the optic disc or blind spot), and Goldenhar syndrome
(malformation of the jaw, cheek, and ear, usually on 1 side of the
face).
I received the consult report today from the genetics specialists that we saw a couple of weeks ago. I didn't want to mention an actual syndrome name until I had further confirmation that it is a real possibility. Based on the genetics specialists extensive research her report states that the suspected syndrome is indeed Wildervanck, also known as cervico-oculo-acoustic syndrome. In Wildervanck syndrome, several hallmark features include short stature and hearing loss, both of which Thomas has although he clearly has other findings some of which can be seen with this disorder as well. Because his larger constellation of findings can certainly be seen with chromosome deletions, duplications, or extra or lost chromosomes, the first order of investigation will be to complete a chromosome MicroArray study. This along with the MRI of his brain and updated hearing tests will allow her to review these test results and confirm our suspicion that Wildervanck syndrome is the diagnosis for his overall condition. She did note that he has 4th and 5th toe clinodactyly bilaterally, which
is the new characteristic that she found and has now been added to his
list of features.
Trying to research Wildervanck feels like chasing a rabbit through his rabbit holes. I will find one article referencing a case study and then find more medical terminology which leads me to another search. The information is so limited that there is basically one definition found over and over again and then random case studies published by doctors with patients showing Wildervanck symptoms. Each case is very, unique and different.
So, let's say for sure its Wildervanck, what does this really mean? Well, upon completion of the test and our genetics specialists further her investigation, we will have a follow up appointment in the next three to four months where she will explain the prognosis. The doctor from Boston confirmed that she has other patients stating
Wildervanck and that they would be able to do a side by side comparison
of their DNA structure to help determine similarities and differences. From my understanding so far, it is not hereditary but instead spontaneous and sporadic. Complications of Wildervanck syndrome are secondary conditions, symptoms, or other disorders that are
caused by Wildervanck syndrome which we will need to monitor.
Honestly though, I feel as though nothing has changed. There are no special support groups for his syndrome, walks for the cause or specialists who know how to monitor his situation specifically, etc. So, there is really no relief as I had hoped in naming the issues at hand. Maybe it will mean something eventually, but currently I don't know. Although its not realistic, I was almost hoping the report would say that I am a crazy mom who is making symptoms up for my son to get attention and that I need therapy to let it go!! Just to let you know where my mind goes sometimes. Instead, I got more confirmation that these are real issues and another specialists confirms the symptoms and has a suspect syndrome in order to help define what we can to provide him the best health care options.
Tomorrow morning we go for another hearing test to try and determine if the tubes are working for his hearing loss and if so how well. Based on our information the tubes may only be a temporary fix, but we will deal with those obstacles as they come. I will let you know tomorrow how it goes and if I know anything more. Please pray that he is calm and cooperates so that we can get some good results. Thank you!
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