Wednesday, February 17, 2010

The Way EYE See It...

It’s been awhile since I last posted anything on this blog site. Most of the reason is because it’s been a whirlwind of activity on our side of the world since Jaiden’s birth. Also, because I knew several people would have questions about what this blog is about and I didn’t have answers for them…until now.

A few days after we brought Jaiden home, I had noticed there was something different with Jaiden’s eyes. Any doctor will tell you that a newborn’s eyes are always a little weird at birth…murky, moving in different directions, etc. Well, I felt that his eyes were different, even for a newborn. His first doctor’s appointment after coming home was at the 2 week mark. After consulting his pediatrician (who is American) about my concerns, we decided to bring him at his 2 week appointment.

Prior to this appointment, both Allen and I got on the internet and started searching for anything that might explain what we were seeing in his eyes. The family members we told also jumped onto their computers and tried to research it as well. The internet is both helpful and scary, if you don’t know what the diagnosis is at the time you decide to do that research. It’s indiscriminate about the information that is online and often states the most extreme cases and scenarios. This was scary even for us veteran parents and I can’t imagine how scared I would have been as a first time parent.

When we visited the doctor’s office, our pediatrician suspected, and preliminarily diagnosed, Jaiden with Coloboma. However, she was candid about the fact that his condition should be officially diagnosed by a Pediatric Ophthalmalogist and she was also candid about how limited China is on their current specialist healthcare and that there were no Pediatric Ophthalmalogists she could recommend in Shanghai. So, all she could do was send us to a general Ophthalmalogist she trusted.

Luckily, all the doctors involved from this point on, have expedited the process in their efficiency to get us in to see them right away. We visited the general Ophthalmalogist and he was also candid that he is not only NOT a Pediatric Opthalmalogist which he recommended we see, but he also didn’t have the proper equipment to perform an accurate examination on Jaiden. He was a Chinese doctor, educated in both the US and UK and he was honest that we should get out of China as soon as possible to get proper care for Jaiden. According to him, China doesn’t have too many specialists because the mass of the Chinese population won’t pay for one and if you do find one, the equipment they are using is not the most up to date and modern. He recommended going to a good facility in the US. He officially diagnosed Jaiden with having bilateral Coloboma (both eyes). He also thought the colobomas were large enough to be concerned about and wanted us to see someone right away. He thought Jaiden had a lot of pressure in both eyes due to the fact that they are a little smaller than “normal.” Let me mention here that he kind of proved his point about not having the right equipment when he measured the pressure he thought he felt in Jaiden’s eyes with a Kleenex by pressing his fingers against his eyeballs. So…there was little choice for us…off to the U.S. we go.

Our family was instrumental in helping us get appointments and finding out more information very quickly about which facility to visit in the US. They did cold calling and spoke with several different people in different eye institutes all over California. The Ophthalmalogist here in Shanghai was also helpful in researching which facility across the entire US he would recommend by their ratings. His top pick in all the US was a medical center in Philadelphia, mostly because the children’s hospital right next door to this top rated eye clinic was also rated as one of the top in the country. He figured that if we needed extra care, it was best to get it all in one place. However, he also knew our entire family and support system was located along the west coast. It turns out that the Jules Stein Eye Institute at UCLA is #3 in the entire country and #1 along the western coast. We decided to go to the Jules Stein clinic.

So, Jaiden and I quickly had airline tickets bringing us across the big, blue ocean…leading us home. My mom came from Hawaii at the same time to add her support and the rest of our family was ready and willing to provide even more support. At this point, Jaiden had turned 5 weeks. Let me add here that we couldn’t have moved anything forward as quickly if we hadn’t been able to find a pediatrician in California to help refer us to different doctors. LUCKILY, we had a VERY trusted and WONDERFUL pediatrician to turn to, who helped coordinate everything even before we arrived to California. We have known her since our first son was born and she feels like a good friend due to our history with her as well as a couple of mutual friends. She was truly wonderful and welcomed us back to California with open arms (hugs).

For two weeks, our top priority was Jaiden’s appointments. We have learned that there could be several other “complications” that can be associated with coloboma…or syndromes, if you will. The quicker we could rule these out, the better. In Shanghai, we were able to see a couple of specialists our pediatrician trusted. Jaiden saw a cardiologist, an ENT doctor and had a cranial ultrasound done. All these tests came back negative…so that was very good news. In California, we really concentrated on visiting UCLA for several of our eye questions and we were also referred out to a neurologist who had an EEG performed. The neurologist had all good things to say and the EEG results came back negative as well. Whew! Such good news!

Ok…his eyes. A full eye examination was performed on Jaiden under anesthesia. As all the doctors who have seen Jaiden have suspected, he has large colobomas in each eye. He will always have them, as the eye cannot regenerate tissue that is missing. Wow…the news of our son having this condition can be overwhelming since it will be something that will affect him (and us) his whole life. However, the GOOD news is that he didn’t have any excessive pressure in his eyes (so much for the tissue test!), there were shadows found from his macular tissue even if the colobomas did extend to the maculars in the backs of his eyes, and he has healthy lenses other than a minor cataract in one of the eyes. And there is no retinal detachment, which is very good. So, the end result is that he might be able to see something…but we won’t know just what he can see until a lot later in his childhood. He is sighted, but with very limited abilities. So...good…and bad.

I can only speak for my own feelings about all of this, but I’m sure other family members have feelings that mirror my own. I fluctuate in my feelings as, I’m sure, anyone would. All of the information and news we have received has not only been given to us at a very fast rate, but it’s also been a “mixed” bag of news. It’s not the worst it can be, but it’s still a rare congenital birth defect that will affect our family for the rest of our lives. I’m trying very hard to keep perspective about everything, but I would be lying if I didn’t admit to feeling completely overwhelmed at times by the whole thing. I also try very hard to realize that what seems very scary now, might not be so scary five years from now, as we gather more information and settle into our familial patterns with a child who might need extra care. And that, in itself, is part of the problem in the here and now…not knowing what care he’ll need, IF any. There are a lot of “what ifs” right now that can only be solved and planned for in the future. As he grows, we might be very surprised by what he can see…or we might be very dismayed by what we know he can’t see. We just don’t know right now.

So…do I go through bouts of “why me?” or “how come?” Of course I do…who wouldn’t? Have I ever had a moment where I regretted having Jaiden? Absolutely not. However, I have had moments…and let me stress that these have only been moments of my life thus far…where I have wondered things like…was it a mistake having a child in China…although a billion PLUS healthy children have been born here throughout history…or wondered if we were pushing our luck in having a third at all, knowing that we are getting older and our reproductive cells are degenerating as we speak…or wondering if my own extreme measures to control my diet was, in actuality, “overboard”…although much of it was doctor prescribed. So many doubts and thoughts that make me as human as the day I was born. And it’s, again, a lot of “what ifs.” I reason with myself that anything I feel or think about the situation is all part and parcel…and part of the “process.” But, I take comfort in knowing that I can’t imagine my life without my beautiful third child and I have not once extended the “what ifs” to not having him at all.

A difficult battle in finding out that your child has something like Coloboma…is the not knowing. It’s considered a RARE congential birth defect. However, studies will also tell you that the reason it could be rare, is due to the fact that many cases haven’t been reported. People that have or have had colobomas in their eyes just haven’t reported it to anyone and they lived fruitful enough lives, even with the disability. As ONE adult stated in one forum, she didn’t know she had a problem until she became an adult. She didn’t realize that she was seeing differently than anyone else. She admitted to needing spectacles at an early age, but that’s about it. In fact, I personally wonder IF this condition is all that rare. The forums I have visited so far, don’t include a full range of ages. It’s mostly parents with young children, looking for answers or reaching out to others who are going through the same thing. These forums and online websites are new, only because the technology allows us to communicate about it more than ever before. But, doctors will admit that many people could have colobomas in their eyes and just not know it themselves. I guess that “awareness” of this condition is better left for a later date. If there are more people than we realize who have it in some way, shape or form…then maybe, eventually, we could test for it in utero. Some people would just like to know…as any parent who has a child with Downs or other tested syndrome could probably tell you. One thing is for sure…whether Jaiden has this because of a genetic blip or genetic predisposition or whether it was an environmental trigger or whatever…it certainly wasn’t on my “radar” and I would have liked to know.

‘Coloboma Awareness’…hmmm…something to think about for the future.

So, what causes Coloboma? Nobody knows. In some people, it could be a freak “blip” in the genetic code while the fetus is forming. In others, in can be linked as a genetic anomaly in which a person can be a carrier. It could present itself by genetics alone or there could have been environmental influences. Nobody knows for sure and all of those questions will probably never be answered to any full extent. We can only ponder what the “trigger” may have been, so there isn’t much use in worrying ourselves into a frenzy about it. It is what it is and I can’t even imagine my life without Jaiden…so who cares at this point. Out best bet is to have Jaiden tested by a geneticist in the future. This person can hopefully clear up a few questions, if not all of them.

What IS Coloboma? Coloboma is a [supposedly] very rare birth defect where the tissue doesn’t completely close in the eyes. This would happen between 5-7 weeks, when the facial features are forming in a fetus. There is a seam that supposed to close from front to back of the eye, along the retina. Jaiden’s coloboma turns out to be missing retinal tissue that does extend from front to back, including a part of his iris. So, his pupils are oval or keyhole shaped and are located at the bottom of his iris’ where the tissue didn’t form completely. It’s like an ink spot on a wall, sliding down, filling up a specific space.
If his eyes are dilated, he has a better line of center vision. His peripheral vision is better established. When he does have a better line of vision from his pupils being dilated, he is also far sighted. So, we have daily eye drops to give him to dilate his pupils and then he also has little baby glasses to correct his far sightedness. He’s soooo cute with those on him! Eventually he will be able to get contact lenses instead of glasses…but not for awhile. Contact lenses could also be made to correct the aesthetic appeal of his eye as well.

I know as some of you read this, you may be wondering why you’re hearing about all of this only now instead of when we found out about Jaiden. All I can say is that this has been a serious “process” for us. I wasn’t comfortable talking about what Jaiden has until I had some answers to some of the questions I knew were inevitable from my friends and family. Not being able to answer your questions only reminded me of my own insecurities that were mostly stemmed from my ignorance about the situation. And then, of course, all the feelings I felt I had to cycle through due to those insecurities of not knowing all I could. I’m sorry if this hurt anyone’s feelings, but trust me when I say, it needed to be done that way. Now that I have many answers to Jaiden’s current welfare and condition, I feel much better about talking to everyone about it. Our trip to California had a specific purpose and I wanted to stay clear for that…which I was able to do. Our NEXT trip through California, however, will be much more of a social visit for us…and we will all be there.

Right now, it’s reported that about every 1-2 births in 10,000 have Coloboma. It turns out my Uncle on my father’s side had a coloboma in one eye. I had totally forgotten that until my dad reminded me about it. “Oh yeah…that’s right, he does.” So, in Jaiden’s case, it could be that I might be a carrier for it. Also, I have family members on my mother’s side that have cleft lip and palates…which also happens in the same developmental phase as coloboma (5-7 weeks) and, in essence, is a similar occurrence…tissue not closing properly in the face. We plan to do some genetic testing to try and narrow that down, but only after we move back to the US. It’s one test that can wait.

This blog begins yet another new phase in our lives…living with Coloboma. I suspect there will be many opportunities to discuss this topic. It was suggested by someone that I start a new blog, mostly about this, in hopes to talk to, or help, or lend an ear, to those who are also dealing with this or something similar. I haven’t decided as of yet. We’ll see…

However, I do want to end this particular blog with our repatriation back to the U.S. So, there IS more to come…

1 comment:

  1. Kim, you and Allen are such wonderful and loving parents!!! I know both of you are doing everything you can for Jaiden! I know he will be a happy little boy and nothing will hold him back! He is a little cutie! He is such a blessing! I am always thinking of you!
    Lots of love,