Taylor & Emily Anderson

Taylor was born with a full head of blond hair, dark blue eyes, and long, graceful fingers. She seemed perfectly fine for the first nine months of her life. She was a placid baby and most times seemed very happy just to entertain herself. She didn't seem interested in crawling or holding her bottle. The experienced mothers in our family told us not to worry. She was just taking her time. When Taylor was 12 months old and still hadn't crawled or learned to stand independently, we brought her to see a pediatric neurologist. A CT scan, hearing tests, vision tests, tests for nerve damage, brain damage and chromosome analysis were performed. All were normal (they hadn't discovered the genetic marker yet). The neurologist told us our daughter would learn to walk and talk and that she may have a learning disability. This meant our daughter was different. But learning disabilities came in varying degrees. We prayed that Taylor's disability would be mild.

Some time passed and Taylor's diagnosis was still unknown. She had been labeled as globally developmentally delayed and we were told we may never get a diagnosis. We placed Taylor in early intervention programs with physical and occupational therapy. What started out as a learning disability snowballed into a severe global delay. Taylor was still not walking or talking and had started to lose skills. Her pincer grasp and toy manipulation were replaced with constant hand mouthing. Taylor cried almost constantly in the beginning. We did too. We were grieving for the loss of our "normal" child and the fear we had in the future. It took us a while to figure out this beautiful child. In the early years we watched the clock. Was it time for her to eat yet? Is that why she's crying now? Was it time for bed? As we got older, we learned what her cries meant and we began to figure each other out.

After much discussion, we decided to try to have another baby. We were told the chances of having a second child with Rett syndrome were astronomical. We tried for quite a while until finally one morning the little white stick turned blue. Several months later Emily arrived. Emily was born with a full head of dark hair and dark blue eyes, as blue as her sister's. She was a big baby and the pregnancy and labor were uneventful. Emily bore weight on her legs and rolled over on time. She babbled and imitated. But when our beautiful baby girl started losing skills just as her sister did, we knew. Emily had Rett syndrome too.

Since the girls were diagnosed, the mutation in the gene that causes Rett syndrome was discovered. Emily and Taylor tested positive for the same mutation. We tested negative and Kami's x-inactivation pattern was random. That lead researchers to believe that one of us is a germline (or gonadal) mosaic.

Gonadal mosaicism happens when a mutation occurs in a developing fetus' egg or sperm cells. A male with this condition may not show any signs of a genetic disease himself, but will carry some sperm that have potentially harmful mutations. When he later has his own children, those children carry some risk of inheriting the mutation (depending on whether the pregnancy is the result of a mutant or normal sperm). The same is true for a female with gonadal mosaicism (i.e., some of her eggs develop mutations before she was born). For gonadal mosaicism that could cause a genetic disease in the offspring (such as a single gene disorder), the appropriate tests are the same as if the genetic change was present in 100% of the cells. DNA analysis can be done on a man's sperm to look for gonadal mosaicism, but no testing is routinely available for women with gonadal mosaicism. This is because it is difficult to obtain a woman's eggs for testing.

It's important to note that the odds of having more than one child with Rett syndrome are very, very low. There are only a handful of families in the world with more than one affected child.

Life with two girls with Rett syndrome can be quite challenging and very difficult at times. Our girls have severe disabilities which limit what they can do. They suffer from apraxia, the inability to carry out planned motor movements. They are non-verbal and non-ambulatory and require help for all of their daily care. Despite their disabilities, Taylor and Emily are two beautiful, blond-haired, blue-eyed angels. They watch videos and enjoy music. They swim, go to movies, birthday parties, and attend some regular classes. They understand everything we say and even though there's no test to prove that, we know it to be true. They smile at you,; they laugh at appropriate times. They make their own choices - sometimes consistently, sometimes not. Taylor can hold and drink from her own cup, eat with a fork with minimal assistance, and is beginning to bear weight and use a gait trainer consistently. (A gait trainer is like a large walker with four sides.) Emily can take many steps with assistance and is getting stronger everyday. We hope and pray that our girls will continue to get stronger, learn new skills, keep the skills they have, and one day be cured. With your help, our hopes and prayers just might be answered.

The Anderson Family
John, Kami, Taylor and Emily