These two girls are our hearts walking outside our bodies!!!
Addie's Medical Mystery
Addie was born on December 16, 2000. She was our first child, and we were instantly hooked!!! Everything about this 8 pound, 6 ounce baby girl was perfect. She was great at teaching me to nurse!! She never crawled, but she rolled everywhere until she walked at 14 months old. At the time the pediatrician was not concerned, but looking back, that was a piece of her own medical puzzle.
At a young walking age my mother mentioned to me that Addie's knees seemed to turn in and one foot turned in. I wrote that off as my mom, a mother of an only child, worrying about nothing. Life went on, but Addie went about her little days falling and seeming to be very clumsy. I enrolled her in gymnastics very young to develop more body awareness. She was always behind other kids her age as far as skills and ability to hold her weight with her arms. She began to let us lead her around on a horse. She played soccer with the local YMCA and enjoyed t-ball. She joined the YMCA swim team as a 6 year old and it was that year we began noticing how fast she fatigued. She would come to us all worn out after only a couple of minutes of soccer or swim. Walking to a parade during Mardi Gras, I remember having to carry her, coax her, and work so hard to keep her from just quitting walking. She could not keep up at a slow pace, and it was that day she began to realize in her own mind that something was wrong with her body.....we had never mentioned our thoughts to her.She would complain that her legs hurt. At home or out and about, whenever she could, she would lean on things and eventually at the table she would by lying across my lap. She said her back hurt to sit up. I honestly wrote off all of this as laziness or tiredness, plus we had Garrett by this time, and his issues were so critical in the hospitalizations that nothing else concerned us as long as the girls were eating and were happy.
Once Garrett was in a routine of therapies and was home, we began listening to Addie and watching her more closely. We saw her changing...the falls were more frequent. She would break down crying trying to walk a block. She would pull on the stroller or shopping cart to help her keep up when shopping or walking. Her ankles rolled in. Her knees locked when she walked. Thus her hips jerked to the outsides when she walked. She could run her clumsy, fragile run, but not for long. Interesting enough, walking was her worst enemy.
We saw Garrett's neurologist in 2007, but she did not see what we saw. I tried for nearly a year to get Garrett in to see the MDA neurologist, but the office would not let me "switch" from one neurologist to another in the same group. Finally, at Garrett's annual MDA checkup I saw the MDA neurologist and I mentioned Addie and her issues, and the neurologist asked to see her the very next month!!! She asked to see her late in the day as that is when she presents with the most symptoms. Right away she noticed Addie's pupils stay larger than normal, she has drooping eyelids, a "myopathy" face, and saw all of the things that had concerned us. She mentioned a group of disorders called CMS-Congenital Myasthenic Syndromes. I had been reading about CMS since several moms on message boards and groups had mentioned that to me. We agreed to test Addie to see if we could pinpoint CMS with blood tests. So far, both the Acetylcholine Receptor Antibody and the muscle-specific receptor tyrosine kinase (MuSK) tests were normal. Apparently these tests show false negatives frequently. We are in contact with the Mayo Clinic adn the office of Dr. Engel who is an expert in CMS. We will be faxing Addie's results along with the neurologist's notes to teh Mayo Clinic, and Dr. Engel's office will review them and tell us what they woudl like to test for next. The neurologist here has mentioned beginning a drug called Mestinon, which may allow Addie to have more energy and less fatigue. At Dr. Engel's office, he can test the children using different medications and EMG tests to pinpoint wether a person has a CMS and if so, exactly what type and which medicine to use.
Addie has one PT appointment weekly and swims daily. She also rides her horse 3 to 4 times per week and competes in barrel racing and pole bending, along with other fun timed events. Her new neurologist is amazed she can ride a horse like she can with her very low tone. It's in her blood!!!
Ainslee
AMAZING!! That's how we describe our Ainslee. She was born on October 6, 2002 Other than constipation which we now have under control with daily Miralax, Ainslee is about as normal as second children can be!! She is so sweet and loving and is a big help with Garrett. At age 5 she still requires a two hour nap, but sleeps great at night, too. She is a great little athlete and has more energy than a nuclear power plant!!! Ainslee is in first grade this year. Being home schooled allowed her to move ahead of her age-defined grade placing that a school would use, and be only one year apart from Addie in her studies. She is handling it beautifully and keeps the mood light and fun during school time.
Ainslee rides a big Sorrel Gelding named Ernie. She loves to trot him all over the pasture and competes in timed events at the local horse club. She missed her little pony, Smoky, but both have graduated - Smoky to the pasure and Ainslee to Ernie. So far, so good!
Ainslee has lots of "friends." She can meet a new child, and five minutes later she will run up to me and say,"Mom, I have a new best friend!" Then I will ask her what his or her name is and she will say, "I don't know!" So she is having a great time everywhere she goes!!!
Addie and Ainslee Love Garrett!!!
Being big sisters is certainly an adventure for Addie and Ainslee. Garrett was born when the girls were 4 and 2, and life was so exciting for us all! Once Garrett's medical issues began developing, Addie and Ainslee were thrown into the crazy schedule of their own activities of barrel racing, swim team, piano, softball, soccer, play dates and home school, PLUS accompanying Mom and Brother to doctors offices, labs, and many, many therapy sessions! Whenever they can, they choose to participate in Garrett's medical appointments. They are huge motivators in therapy and in the pool. He can be a noisy, screaming dude, but all in all, the girls have been the best sisters a guy could ever have. As Dad keeps reminding them,"Remember, someday he will be the brother who chases off the boys and saddles your horses for you! So be patient and loving." I cannot imagine that yet, but it will be beautiful!
