Thursday, November 20, 2008

Are Cataracts Genetic? - Welcome to the Cataract Family

It's 2:00 am and I can't sleep. Kayla has been sick over the last week and although she does pretty well during the day, when she gets into a deep sleep she sometimes has trouble breathing well. I woke up this morning to the sound of her breathing loudly and the pulse oxymeter alarm going off which tells us that she is not properly saturating oxygen in her blood. I just gave her a breathing treatment and did some percussion on her back to loosen up the gunk and now I can't sleep so I thought I would take a minute to let you know what's going on.

At 7:30 am this morning, I'm going in for cataract surgery. You are probably wondering, why would a 42 year old have cataracts? Well, I"m not the only one in the family. Kayla was diagnosed with cataracts when she was 2 but the doctors are watching them for now as they are slow progressing. Jeff was diagnosed with cataracts earlier this year but we have no idea why he would get them at 43. And then there's me. Within the month of October, my vision started getting blurry and when I went to my opthamologist to get new glasses, he told me that I had fast progressing cataracts and that if they were impeading my vision enough that I should consider having them removed. I can see still, it's just that things are blurry and its hard to see well on the computer. I work on the computer most of the day so that's a big problem. I have been working about 8 inches from the screen for the last month which is about to drive me crazy. Also at night, any lights including headlights, taillights, street lights, and stop lights all have multiple halos and are multiplied. If there is one stop light, I see 3. It's really strange but they make a perfect triangle with the main light in the left bottom corner and the other two just above and to the right of the main one. At first I thought I was losing it but realized quickly that I was having serious vision problems.

If you aren't aware, cataracts are a symptom of myotonic dystrophy. In this lovely disease, cataracts form early and are typically a very unique type of cataract called "Posterior subcapsular irridescent cataracts". Also known as "Christmas Tree Cataracts" because the cataract has an irridescent quality to it like shiny confetti you would throw down on the table at a party. Here is some information from the vision page of the Myotonic Dystrophy Foundation website if you want to learn more:

"Blurred Vision: Visual impairments in patients with DM1 and DM2 are most often caused by cataracts. Posterior subcapsular iridescent lens opacities represent an initial phase of cataract formation in myotonic dystrophy and are detectable only with slit lamp biomicroscopy. These opacities are usually found in patients who have not developed any visual symptoms. The presence of this type of lens opacities and more mature cataracts may be the only sign of the disease. Posterior subcapsular iridescent lens opacities are highly diagnostic of DM1 and DM2 although not pathognomonic. Glare and blurriness of the vision develop as the progression of the lens opacities into stellate cataracts and eventually mature cataracts, which are indistinguishable from usual cataracts. Cataracts in DM1 and DM2 may progress faster than usual cataracts, and thus patients with DM1 and DM2 may be presented with early-onset cataracts."

For more details on vision issues including cataracts in myotonic dystrophy go to:

Well, this is probably more than you ever wanted to know about cataracts but this is just a reality of this disease and of our lives. Fun, huh?

Well on a more positive note, we got Kayla's school pictures yesterday and they are adorable. I scanned it so you could see (below). The first set of pictures the school sent home were horrible. Kayla looked depressed and didn't smile at all. Her glasses were glaring and it was just overall not the best picture of her. So of course, I insisted on a re-take and went there myself to make Kayla laugh so we could get a sweet Kayla smile. When Kayla isn't smiling, she looks sad and that is not how I wanted to remember her first year of school. Isn't she adorable!

Kayla's First School Picture (Pre-School - 3 years old)


Rob said...

Hey hey - it's been so long. I'm stunned by the beautiful pictures of Kayla. Read your update and hope your surgery went well on Thurs. Big hug from all of us - Rob, Tina, Alessandra and Luca

Faux Martha said...

Hi Lisa, I got your message and I wanted to say thank you for stopping by my blog. What a beautiful daughter you have!! She looks like she is developing very well. Our story, well, a few months before my husband and I got married, my husband's sister, Anna gave birth to Emma. It almost sounded exactly like how you described.....excess amniotic fluid, low birth weight, low muscle tone. Emma was at Childrens Hospital for about 3 months. About 2 months into her stay we learned that she had congenital myotonic dystrophy. Luckily for me, I am a molecular biologist by degree, so the genetics part of it was very understandable. The story is much more complicated but anyways, Anna, the mom was the carrier of the gene. So then my father in law got tested and he too was the carrier of the gene. However, what really complicates it is, that my husband is one of seven kids. His dad is one of eight kids. So this is a huge family. Some of the people have been tested, others don't want to know. My husband got tested right away, because we were planning to try and have kids right away. Unfortunately, he had the gene. But the good thing was that it explained some of the problems he had with swallowing/muscle control. So when I got pregnant, I did CVS testing with both kids....not because we would have ended the pregnancy but because we wanted to be prepared. As I said on my blog, we are so blessed, because neither of our children ended up with the gene. The work you are doing for the organization is fantastic....I actually have this wierd sort of idea where we would like to have a fundraiser in a couple of years, where we have formal cocktail party and a band and we raise money for DM research. I would like to link your blog up to my blog, if you are okay with it? I will try and find a recent picture of Emma, because she actually looks very similiar to your daughter. Emma is now four and she is doing very well, she has some vision problems and maybe some slight developmental delays, but overall she is doing suburb. Thanks again for your note!! Good vibes going your way!! Peace, Rebecca and Joshua

PS I also emailed you but I have a yahoo account and so sometimes those get spam-blocked....

English Cottage in Georgia said...

Good luck with your cataract surgery. My husband had cataracts in both eyes removed at different times 1989 and 1992. During night football games, he was not able to see the plays on the field.
He was not diagnosed with MMD1 until after his daughter gave birth to Hannah, 2 months early and the diagnosis of our daughter, Sara at the age of 8.

Is Jeff affected also by mmd?

Temmie said...

Lisa, It was sure wonderful speaking with you today. I sure appreciate you sharing your story with me. Kayla is adorable! She is so blessed to have wonderful parents. God bless you! Temmie

Kent Clark said...

I didn't realize that cataracts could be genetic. They always just seemed like something that develops over time. However, the fact that your two year old got them is evidence that it really can be genetic. Thank you for providing this information with us. I hope that your daughter is doing alright!