A Bittersweet Day

I feel compelled to write to tell you about my day today.

This morning I heard from Gerald Weinberg, the President & CEO of the Muscular Dystrophy Association (MDA), asking our family to be on the 2009 Jerry Lewis MDA Telethon in Las Vegas. I was honored to be asked to represent so many families living with myotonic dystrophy and to be able to tell Kayla's story to help raise awareness for this disease. We have been able to share Kayla's story for the last three years in the Sacramento area broadcast of the telethon but are especially excited to be able to share her story nationally. The telethon will be aired on local stations throughout the country on September 6th and 7th, over the Labor Day weekend.

Not long after I got that news, I received a call from a grandmother of 4 month old twins who were diagnosed at birth, like Kayla, with congenital myotonic dystrophy. This grandmother had been in touch with me over the last week telling me the story of her grandbabies. They were in the NICU for 86 days after their birth. I felt an instant connection with her and was so amazed at the similarities of our stories. She reminded me a lot of my mom, better known as Grandma Jane by her 8 grandkids. The baby's father also called yesterday to talk with me about one of the twins who had gotten sick and was rushed to the hospital yesterday. The baby was sent in for exploratory surgery yesterday and not long after that, died from complications from an intestinal infection. When the grandmother called me this afternoon with this sad news, my heart broke. My heart broke for their family whose lives will never be the same after this, for the twin brother will never get to know his twin sister, for all the families living with this disease who suffer every single day but who get up and fight back and try and stay positive despite their difficult circumstances. Please keep this family in your prayers.

God Bless You Baby Zoi!

We've been on a roller coaster ride since July 2005 and I want to thank all of you for following our story and for supporting our family through this journey. I can't begin to tell you how therapeutic it has been to be able to write about our experiences. And knowing that so many people that I had never met until this experience are out there supporting us helps to ease the pain, so thank you.

Lisa

Kayla started horse riding therapy - also known as Hippotherapy

Kayla and I at 'Ride to Walk'

Once again, it's been way too long since I've journaled and so much has happened since my last entry. One of the best things that we have done lately is to get Kayla into a horse riding therapy program, also known as hippo therapy. We started last Friday at a local horse ranch near our home. The program is called 'Ride to Walk'. The people who run the program are amazing and so great with the kids. I wasn't sure exactly how Kayla would react to riding a horse and was so amazed to see how she handled it. She seemed a little scared at first but didn't really cry. She was whimpering a little as she went around the ring the first time and then after that she seemed to love it. There are 3 people with each rider, one to lead the horse and one at each side of the rider. One of the side walkers is her physical therapist. They do all sorts of skills as they go around the ring, including placing rings on cones, lifting stuffed animals off of polls around the ring, turning and riding backwards, putting bean bags into boards with holes in it. All of these things take core muscles to accomplish so it's quite a workout for the kids. It's not only good for core strength but also for speech. It was amazing to hear Kayla talking, telling the horse to "Walk on" and "Whoa" to make it stop. She was also naming lots of animals that they have pictures of scattered throughout the ring. It was so incredible. Of course I spent most of the time at the side of the ring with Jeff bawling my eyes out. They were tears of joy to see Kayla so independent and doing something that I know will benefit her in so many ways. It was a moment I will remember forever.

Kayla's First Time Around the Ring

Kayla's starting to get more comfortable

Kayla placing rings on a cone

Kayla's therapist (right) and walkers

Heavy Metal Band Auctions Grammy Medallion on eBay to Support Myotonic Dystrophy Research

If you're into Heavy Metal and want to make a difference in the lives of people living with myotonic dystrophy, bid on the lead singer of Lamb of God, Randy Blythe's Grammy medallion on eBay. Randy made this generous offer to the foundation and we are grateful to him for his support. Bidding begins at 7:00 pm PST, Wednesday, January 28, 2009 and ends at 7:00 pm PST on Saturday, February 7, 2009.


See a Video from Myotonic Dystrophy Foundation Board Member, Todd Stone

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: http://www.myotonic.org/professionals/multisystemic-features/vision/

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)

Our Beautiful Little Girl is Growing Up!

For Kayla's 3rd birthday this year, we decided to have some pictures made of her at Enchanted Images near our home in Rocklin, California. A good friend of ours recommended them and they were right, the photographers were really sweet and compassionate about all we'd been through over the last few years with Kayla. They took there time and got some really amazing pictures of Kayla, Jeff and me. I especially love the one of us walking in our bare feet. It really captures Kayla's carefree and loving spirit. It's also very symbolic for us to have pictures of her walking since we were told she may never walk. As you all know, Kayla was diagnosed at birth with congenital myotonic dystrophy and her prognosis was very poor. Kayla has proven to be an amazing fighter and has a strong will to live. She's the happiest kid I've ever met and spends most of her time trying to make sure everyone around her knows that they are loved. She's a hugger and kisser and I've heard that she rescues all the kids at school when they get hurt. That's my girl! Well, I had to share these photos with you as these moments are what keep us going. It's nice to have some amazing 'normal' moments in all of the craziness we'd had in our lives.

More later...

Lisa

Member of the Myotonic Dystrophy Foundation Community Support Group

If you are looking for support for myotonic dystrophy or congenital myotonic dystrophy, join our online community at: www.community.myotonic.org.

Kayla Had an Accident But is OK

We had a real scare with Kayla today. I got a call this morning from one of our nurses that she fell out of one of our kitchen chairs and hit the tile floor. She seemed upset at first but then was able to calm down. It didn't seem like she was hurt until I got a call that she had thrown up about half an hour later. I raced home just in time to meet the paramedics at our house. They put her in a neck brace and rushed her down by ambulance to the ER at UC Davis.


Kayla was such a trooper and didn't complain that much about being locked down for most of the day. We entertained her and tried to keep her spirits up. She is such a good little girl.

The doctors did a CT scan and several X-Ray's and confirmed that she didn't have any damage from the fall. We were so relieved until the doctor mentioned that she had brain stem and frontal lobe atrophy consistent with congenital myotonic dystrophy. That was a punch in the gut that I wasn't expecting. I know that it's a reality of this darn disease but to hear the doctor say those words about my angel Kayla, really took my breath away. I cried on the ride home but then got through it and I'm ok now. I know that I can't focus on that right now as Kayla has done more than anyone expected her to so we feel very blessed that she is even here with us. I really believe that an angel scooped in to save Kayla from that fall. When I got home I saw how she fell and I realized what a miracle it was that she's ok.

Feeling blessed,

Lisa

We Attended the Myotonic Dystrophy Family Conference In LA

On September 19, 2008, we went to Manhattan Beach, for the 2008 Myotonic Dystrophy Family Conference. The conference was great and we were able to connect again with lots of our friends that we've made throughout the years. The Myotonic Dystrophy Foundation (MDF) helped to sponsor the conference this year and I had a table during the conference where we met families and provided medical information. We officially introduced our new websites, www.myotonic.org where we have comprehensive content about myotonic dystrophy and our new online community site, www.community.myotonic.org where families living with myotonic dystrophy can connect.

Going to Manhattan Beach was little surreal. I lived in Manhattan Beach before going to business school in 1998 and all of the memories of how simple life used to be came flooding back to me. The hardest decision that I used to have to make was whether or not I would play beach volleyball or rollerblade until the sun went down after work. I really miss those simple days but I wouldn't give up my life right now if it meant not having Kayla in my life.

I got a phone call today from a family who has a new baby in the NICU who is struggling with congenital myotonic dystrophy and that call reconfirmed to me how important the work I do is. The mom cried to me and told me that I saved her life and gave her hope by documenting Kayla's story in my blog. I cried my eyes out knowing that the experiences that we had with Kayla were helping someone else. That call is one that I will remember forever. Being able to help someone in need is the most rewarding thing I have done in my life.

Well, I need to go feed Kayla so I'll write more later.

Lisa

Kayla at the Muscular Dystrophy Association (MDA) Events

Kayla dancing with Nana Jane's cane at the MDA Jerry Lewis Telethon - 3 year 1 month old

Kayla and I on the MDA Jerry Lewis Telethon - 3 years 1 month old

Kayla and I at the Muscular Dystrophy Association (MDA) Stride N Ride

Kayla cooling off with an ice cream sandwich at the MDA Stride N Ride

Jeff, Nana June, Kayla and I went to the MDA Stride N Ride fundraiser this morning. We had a blast! It was great seeing everyone and helping to raise money for the MDA.

Chastity and Kayla at the MDA Stride N Ride

Nana June, Jeff, Kayla and our friends

Kayla Started Pre-School

Well, I never imagined not writing in my journal for 9 months but life has been very busy. I'm not sure how to really recap the last 9 months so I won't really try. Here are a few of the highlights.

Kayla started walking without the aide of her walker around her second birthday but it took her a few months before she could walk completely independently. Kayla still loses her balance easily so we have to stay close by to make sure she is safe. She is also able to walk up the stairs if someone stands by to assist her. She's such a big girl now. Speaking of big, she is 42 lbs and 43 inches tall already. She looks like a 5 year old.

More news; after a year working at eBay again, I made a decision recently to leave to help launch a website, www.myotonic.org, for the Myotonic Dystrophy Foundation where I've been a board member for almost 2 years. It's a family advocacy group started by 8 different families who are affected by myotonic dystrophy. Our focus is education, advocacy, community support and research. We also have a community site where families can connect at: www.community.myotonic.org It's been great to have time to do something that makes a difference in peoples lives and although I miss my eBay friends, it's been the best decision of my life. I now have time to focus on helping to fight this disease and to make a difference. In my free time, I'm still helping the MDA to work on fundraising events in our area. It feels so good to be in a space where Kayla is relatively healthy and that I can do such important work.

Well, we have had a really nice summer overall. We took Kayla back East to Baltimore again this summer but unfortunately it was for Jeff's father's funeral. Jeff's dad died from complications from Alzheimers. It was a really sad time but it was very special for Kayla to be able to spend time with her cousins on both Jeff's side and mine. Kayla really enjoyed playing with her cousins and it was amazing to see her running around with them, happy as ever.

Kayla's First Day of Pre-School - 3 years old

Kayla started pre-school on August 19th. It was one of the happiest moments for us to see her going to school after being told that she may not likely survive past the first year. Kayla is such a fighter. She's attending a special day class where she will be integrated into a regular classroom throughout the week. It's a perfect setting for her and she loves her teachers, aides and therapists. Her teacher Mrs. Kelly is a bundle of energy and I can tell that Kayla adores her. She also has a signing aide in the classroom that is helping her to continue building her signing vocabulary. She is now signing over 170 signs and is begining to put words together to let her needs known. She's still struggling with her speech but with lots of therapy and help from us and her care providers, she's coming along. I have faith that Kayla will be able to speak so we are working as hard as we can to help her but meanwhile, we continue to use ASL signs.

Today is Jeff's and my 5th wedding anniversary. I can't believe we've survived 5 years even with all we've been through. We are going our tonight for a nice dinner to celebrate. It seems so ironic that we got married on Labor Day weekend considering that it's the weekend dedicated to fight muscular dystrophy and all of the other neuromuscular diseases. Speaking of the weekend, tomorrow, on Labor Day, Kayla will have her story told again on the Sacramento region Jerry Lewis MDA Labor Day Telethon. For those of you living in the Sacramento region (extended), tune in on channel 58 from 10:45 am to 11:30 pm to see Kayla's spot and to hear our interview. They are interviewing my mom, my aunt June (mom's twin) and I about how this inherited disease affects our family. It's the first time that I'll be talking about the disease and how it relates to my mom and I. I'm a little nervous but think it will be liberating to talk about it. I feel like I've been living someone else's life as I've been nervous to talk publicly about it but I'm finally ready. If you are able to, you can also make a donation during the telethon. Make sure you tell the person on the line that it's in honor of Kayla. :) I love being able to share Kayla's story with everyone and for telling how she's beaten the odds.

Well, Kayla wants me to pay attention to her so I'm going to sign off for now. I'll write more later.

Lisa