Dr. Nischal's Insight on Elizabeth's Eyesight
From the beginning of this journey with Elizabeth, I have always taken notes and done my research on both the doctors that are seeing her and the information we discuss at her appointment. I feel like it is my duty to be well informed, to be knowledgeable about what we are talking about in regards to Elizabeth, to understand how the doctors that are on our team have done research or have a unique understanding of Elizabeth's unique set of issues, etc. When we were first referred to Dr. Nischal by Dr. Pav, I began doing research on his career. I came to realize that he would truly be an excellent fit for our team, because of his extensive background in Genetic Ophthalmology. I was told that he "wrote the book," and after reviewing some of his research, I could tell that he would be able to give us the answers that we were looking for regarding Elizabeth's vision. I just had no idea how much he would be able to tell us. I'm so glad that we were able to get an appointment with Dr. Nischal. As the Chief of the Pediatric Ophthalmology Division at CHP, he doesn't see many patients, which is common for most department heads in medicine. Our Diagnostic Referral doctors jokingly said that when you make it to a department head as a patient that you're really something special. These leading doctors often take very few patients, and only those cases who are of a special interest, or who present a case that they feel is worthy of their time and attention considering all of their other obligations aside from seeing patients. I also feel a bit of regret for not getting her into see him sooner, especially with all of the information that we learned at the appointment. Maybe we would be further ahead had we seen him months ago? Maybe not? A few things are for sure: hindsight is always 20/20, and journeys like these are always full of "what ifs."
Dr. Nischal entered the room and instantly won our hearts. He came in smiling and greeting us with flattery in his British accent. Is there any better way to put an anxious mom's heart at ease and win over a girl's heart? No, I don't think so! He did a thorough assessment of Elizabeth's eyes, skull, and he commented that he had reviewed her chart. Dr. Nischal also mentioned that he had heard about me, that I'm the mom that does her research, and that he was pleased to finally meet us. I was honored to hear that from him, and it definitely made me feel like maybe all of my countless nights awake reading articles from medical journals has been worth the time spent... like maybe I'm not doing such a bad job after all? Sometimes, it is very easy on this journey to feel like you are simply not doing enough. It is a very easy pit to fall into. I've fallen in and climbed out time and time again. I'm sure that I will many more times in the future. After his initial assessment, Dr. Nischal said that he wanted to have her eyes dilated to get a better look at her optic nerves. So, we waited for the eye drops to work in Elizabeth, and I started writing down questions to ask him when he came back to finish the rest of the assessment.
Elizabeth was not very happy during the exam with the lights and the microscope. We were singing her favorite songs, but she was still not happy. Immediately after he was done assessing her, she was very pleasant and smiling, and turning on her Princess Elizabeth charm. Then, the discussion began, and it yielded a wealth of information. Here is Dr. Nischal's insight on Elizabeth's eyesight:
1. He feels that she should have a CT Scan to evaluate her for abnormalities of the skull.
2. Dr. Nischal agrees with Dr. Roman-Lantzy's and Dr. Goldstein's assessment that Elizabeth does have CVI. However, he also agrees with Dr. Pav that she is not a typical case of CVI. She is an atypical case, because usually in CVI the visual impairments are mainly related to damage in the cortical or visual regions of the brain. In Elizabeth's case, her CVI is due to the extensive damage in the cognitive regions of her brain. The damage in these regions impacts her ability to truly understand and identify the images that are being delivered to her brain. Dr. Nischal commented that he fully trusts Dr. Roman-Lantzy's assessment of Elizabeth having CVI, and he felt that we should also continue to follow up with her in regards to tracking her progression.
3. The examination of her optic nerves indicates that she is missing sections of the optic nerve, when it is viewed laterally (from the side) in the left eye. The optic nerve in the right eye has an abnormally deep groove in the center and is also very thin when viewed laterally. Dr. Nischal classifies her as having hypoplasia of the optic nerves, which is consistent with with a diagnosis of Septo-Optic Dysplasia. However, he also feels that she is not a typical case of SOD either.
4. He also noted that she has several features that align with a disorder known as Kabuki Syndrome. However, she also has other features that do not make her absolutely typical of those with Kabuki Syndrome. Her eye shape, developmental delays, super long eyelashes, and blue sclerae are just a few of the features of the disorder that she displays. Dr. Nischal recommends that they review her exome sequencing results to determine if she in fact has the genes responsible for Kabuki Sydrome, and if needed that an expanded exome result be done to take a look at those genes responsible.
5. She is now classified as having low-vision. In fact, since May, her vision has decreased even more, but we are going to wait a few more months and recheck her vision before ordering new lenses. The next set of lenses will definitely be bifocals, because now she has difficulty seeing both up close and far away. She also did not pass the visual acuity test using a set of cards at the beginning of the appointment, and at our next visit they will use a different set of cards to test her acuity.
6. Dr. Nischal feels that her case is so unique, because he feels that she is a mosaic of different disorders. While this makes her valuable to medical research and advancement in the field of Genetic Ophthalmology, it is also means that what is going on with her and her eyes is very rare and unique. We have always known that she is one of a kind, but when you hear something like this from a doctor of Dr. Nischal's expertise and background say this, it gives it a whole new meaning. His plan is to contact her doctor in the Genetics Department, and he will now be looped in on all testing and results. He also is taking her case to discuss it at the weekly Ophthalmo-genetic case meeting at CHP. He also does some co-op work at Oxford, and he wishes to discuss her case with those colleagues as well. So, Elizabeth's case is going to be crossing the pond, so to speak.
7. Dr. Nischal would like to continue to see Elizabeth as a patient, and I graciously welcomed that idea. I am so excited and honored to have him as a part of our team. So, she will be seen by him in three months for another evaluation at CHP. At that time, we will adjust her prescription accordingly for her glasses. Dr. Nischal confirmed that she is losing her eyesight, and the cause we are unsure of at this time. Maybe we will know more after our meeting with Genetics on Monday. In the meantime, we will continue to watch her vision closely, adjust her prescription every few months as needed, and by doing so will continue to give her as much functional vision as possible for as long as we can. We just have to keep a close eye on her visual development.
8. We discussed visual supports and sending her to preschool at the Western PA School for Blind Children, and Dr. Nischal also agreed that would be an excellent placement for her. He also agreed that she is going to need life long visual support.
9. Another reason that Dr. Nischal feels that Elizabeth is a unique case is that she has all three neuro-muscular conditions of the eye: strabismus, amblyopia, and nystagmus. Usually, all three of these conditions are rarely found in one individual unless there is an underlying neuromuscular or connective tissue disease. Unfortunately, there is little we can do to correct the loss of her vision or issues with muscle control/ tone that are caused by her various neurological issues and brain damage. The reasoning is similar to someone having a stroke and being paralyzed on one side of their body due to the damage from the stroke that is irreversible. All we can do is watch, do what we can, and pray for the best.
10. As for losing her vision, Dr. Nischal feels that she will in fact be blind, eventually. The eyes: they either have it, or they don't.
It was a very, very informative and beneficial appointment that filled in a lot of pieces with Elizabeth in regards to her vision. His insight was invaluable. Even though we also left there with questions that still need an answer, we were able to answer many lingering questions. We gained a valuable member to Elizabeth's medical team. Hopefully, our meeting with Genetics on Monday will help us to fill in some of the pieces discussed at today's appointment and other pieces that have been discussed along the way. If Elizabeth is truly a mosaic, we may never know, or it may take years, to really have all of the answers that we seek. Do you ever really have all of the answers, though? Really? No, and that's ok. All we can do is do what we have done all along. Stay the course. Keep moving along in the journey. Stay strong. Do everything we can, see everyone we can, who can help us help Elizabeth and fill in the pieces. I just hope they fall in line, we piece together answers, before it is too late. In the meantime, we continue to stop, look, see. We continue to love and cherish the blessing we have been given. Her smiles and giggles can light up the room and lighten any mood, no matter how heavy it may be.
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