Jackson did not mention the not seeing in the dark anymore. Maybe I was wrong, maybe I am not. Who can tell? We could go to the hospital and get an ERG (electroretinography), an eye test that detects the function of the retina. But since Jackson is still so young they would need to put him asleep for that, parents tell me it’s not a very pleasant test for a child to undergo. But besides that, what will we get out of it? The confirmation that he has Retinitis Pigmentosa (RP) caused by his Usher syndrome? We know that. An ERG test would tell us at what stage his RP is in, if his (night) vision is affected yet. Honestly, I don’t want to know. Call me stupid, call me naive, but I choose to live a little longer not knowing. A decision me and my husband made together. Based on our gut feeling. Based on conversations we had with other Usher parents, based on a conversation with our doctor.
It’s not that I am denying that it’s there. Believe me. I am on constant high alert when it comes to Jacksons’ vision. When we’re playing, when he’s at school, when he’s interacting with other kids, when he falls or stumbles, there’s always this reflex: ‘did he see this, did he not see this?’ Even more so in the dark. But he seems to be doing fine, I hold his hand when he asks for it. We make sure there’s always a light on. When the time is right, we will get that ERG test done.
I do suspect that Jackson might need prescription glasses. A thought that I kept hidden away for a while. Ridiculous, I know. But like I said, everything about his eyes and vision is such an emotionally charged subject for me. So when he failed a simple eye test a couple of weeks ago, it didn’t really surprise me but the impact of it did. Another fail. I’ve almost become afraid of tests, afraid that he might fail and afraid of the implication of that failure. That’s so not me, so not how I used to be. But this Usher diagnosis changed me, it has made me so vulnerable. I scheduled an appointment with an ophthalmologist a few weeks ahead, so I had some time to get myself together. The last thing I want is for Jackson to see his mom in tears after he fails a test. It’s not his fault. Ever. This eye test has nothing to with Usher syndrome, it’s not gonna tell us if his RP has set in yet, it will only tell us if he needs glasses. I wear glasses, my husband wears glasses, we should feel fortunate that we can help Jackson if needed. Especially if it’s affecting his ability to play and learn right now. We need to keep his eyes as healthy as can be.
The ophthalmologist appointment is tomorrow, my stomach aches already. Blame motherhood.
PS please do share your experience/opinion about having the ERG testing, did you test your child and at what age?
We just had our first ERGs done on all 4 of our kids around the holidays. They are ages 9, 10, 12 and 16. We just received the Ushers diagnosis last year because we noticed our 12 year old’s vision issues. Two of our kids for sure have Ushers and 2 are maybes. In hindsight we think our 12 year old has had these issues for years and we just thought he was clumsy. Now that we have grieved a bit and gotten used to the diagnosis more we have found it really doesn’t change much for us as far as our daily lives. He had already been adapting without even knowing that is what he was doing. Children are remarkably resilient beings.
I have two now adult daughters with Usher 1F. The ERG is not a pleasant test. In addition, if it is not a computerized ERG, which very few centers have, you will get a result of no response, which is absurd since your son is clearly still seeing. Even with a computerized ERG, which tests below a level of 10 (50 is normal), there is a 30% margin of error. If you have confirmation of Usher Syndrome from genetic testing, then I do not know why you would also need an ERG. The ERG used to be what was needed to confirm RP, but with advances in genetic testing, it is not usually necessary any longer. When he is older, you can do a visual field test to keep track of what’s happening with his vision. For now, let him enjoy his childhood and make modifications when they become functionally necessary.
thank you for this feedback Melissa!
Hi Carolien,
Na onze ontmoeting in het gebarenklooster lees ik je blogs. Heel erg herkenbaar….
Onze zoon heeft met bijna 3 het ERG gehad, dat was nodig om vast te stellen dat hij RP heeft. Het was het verschrikkelijkste onderzoek dat hij heeft gehad. (Hij was overigens niet onder narcose). Hij krijste de hele boel bij elkaar. Het onderdeel in het licht hebben ze af kunnen ronden. Het tweede deel in het donker hebben ze niet gedaan omdat hij zo overstuur was.
Wat mij betreft krijgt hij dit onderzoek nooit meer. Via een scan en foto van het netvlies kunnen ze ook achteruitgang zien, heb ik begrepen. Bovendien heb je inderdaad weinig aan de info. RP weet je al een je kunt er niks aan doen. Een visueelfunctieonderzoek vond ik wel erg prettig. Daarbij krijg je een beter beeld van wat hij wel/niet ziet en kun je je daar aan aanpassen/inleven en wordt de zorg daar ook op aangepast. K. vond het wel gezellig al die spelletjes met een paar aardige dames.
Wij krijgen gezinsbegeleiding van Visio en zijn daar blij mee. K. gaat nu oa naar een peutergroep voor blinde en slechtziende kinderen. Hoewel hij met goed licht, weinig last heeft en verreweg de minstslechtziende is. Hij heeft het er erg naar zijn zin, krijgt kijktraining om zoveel mogelijk mee te krijgen nu hij nog wel kan zien. En kan zo gaan ervaren dat de andere bijna blinde kinderen ook ok en aardig zijn.
Hij heeft het allemaal niet zo door, maar ik vind het zo nu een dan enorm confronterend. Zit je in de wachtkamer met een man met hoortoestellen en een donkere bril en stok. Tranen met tuiten. Nu het vermoeden er is dat hij in het donker weinig tot niks ziet. Ook gesproken over in het donker lopen met een stok. Dan wordt het ineens ECHT, pfff. Maar ook de tip gehad om een zaklamp te gaan gebruiken buiten in het donker.
Sterkte in jullie achtbaan vol emoties. Lieve groet (ook aan Willem),
Paula
Klopt niet wat ik zeg. Hij wordt in mei 3, dus we hebben het onderzoek gedaan dat hij bijna 2 was, Bartimeus in Zeist.
Dag Paula, wat fijn om van je te horen. En herkenbaar, jammer genoeg. We gaan eerst morgen eens afwachten en dan stap per stap, wat we steeds gedaan hebben. Ik denk dat het op enig moment wel aangewezen is om een soort van nulmeeting te hebben, maar wat je zegt, dat kan met scans en foto’s ook. Wat moet het ongelofelijk heftig voor je zijn. Veel sterkte en liefs voor jou en je gezin. xxx
I agree with Melissa C. on the ERG. I also agree with you that as a mom, you have to be able to handle things and prepare yourself for whatever will happen next. The ophthalmology appt tomorrow will be be a good thing. Glasses have helped our son tremendously along the way. If Jackson doesn’t need them, hooray! If he does, welcome to the club! Keep us posted how his appt goes. And by the way, you are doing a fabulous job, mom! Hugs! ?
Thanks for the support <3
Thanks for sharing and asking about other children and the ERG, I have wondered this as well. My daughter was diagnosed genetically with ush2a at 11mo and we had our first visit with a retinal specialist at the University of Miami when she was 13mo. I was shocked when they recommended a sedated ERG to be completed in the next few months. What is the point at this stage when you have a genetic diagnosis? I was so unprepared for this recomemndation I did not ask my normal line of detailed questions. After discussing with our family, including my father in law who is a doctor, we decided the real risks associated with sedation and intubation outweighed any perceived benefit of the test and elected not to do it at this time. Not to mention the cost including travel and over night accommodations. The retinal imagining was traumatic enough, I hope to minimize these invasive tests as much as reasonably possible. we plan on careful monitoring and holding off on extensive testing until it is necessary or helpful. Rest easy you are not alone in your decision!
thanks Lisa, making these decisions is never easy, thanks for sharing!
Soms heeft het niet veel zin om al te weten wat sowieso eens zal komen. Ik begrijp dat
The ERG is not a pleasant test! Only my youngest had it at age 9 yrs as she was showing signs of night vision issues and born profoundly deaf. It confirmed RP. We didn’t see any point in subjecting our older daughter to the test as being deaf too we really knew the answer…… As others have said, with genetic testing available now the ERg is not usually necessary.
We have not yet confirmed the genetic diagnosis as the first go of testing about 5 yrs ago gave no result. We have recently been informed by the Australian Retinal Diseases Databank that their testing is suggesting Usher 1C but need to find the second gene responsible. They also said there is a clinical trial happening for 1C and they are looking for subjects so confirming 1C was a priority.
It is useful to have annual Opthalmology assessments as researchers like to have this data if they are considering your child for a rdiagnosis search study. it also adds to the general knowledge about progression of the different subtypes.
I think it is pretty common for our Usher kids to need glasses for other issues and very important to maximise their eyesight. BTW my daughters are now 18 and 19 and the 19 yr old is heading off to study Science at University! Vicki
Hi Vicki, thanks for your feedback! Good to hear your daughters are doing so well. I agree on the annual ophthalmology assesments, this data is indeed valuable for researchers. We all want that cure to happen. Wishing you all the best.