Friday, June 5, 2009

The background story on Natalie

Natalie is 3.5 today!

In honor of this momentous half-year birthday (and I know many new readers don't know her back story), I thought I'd post a synopsis of her medical issues and therapy, up to age 3.5. For the rest of the story, keep reading the blog for the rest of her happy life!

After a normal pregnancy, Natalie was born at 37 weeks. The first we knew something was out of the ordinary was when she didn't breathe properly when she was born--within the first few minutes. But that was just the beginning.

Natalie spent 5 weeks in the NICU learning to eat enough to sustain herself (she only had supplemental oxygen for two days). At about 3 weeks of age, someone said the words "Rubinstein-Taybi Syndrome" because of her large thumbs, and about a week later, we became convinced that's what she has (she looks like other kids with the syndrome) but she didn't get an official diagnosis until 4 months of age.

At 3 months of age, Natalie went into the hospital again with pneumonia from a severe cold we all had. During that time, her feeding changed for the worse. Whether she was aspirating from birth, or she developed aspiration after pneumonia and all the breathing therapy they did, it was confirmed after the 2-week hospital stay for pneumonia that she had severe, and silent, aspiration. "Silent aspiration" meant that she did not cough when she you couldn't tell she was aspirating. A swallow study (where she swallowed barium while in an x-ray video) showed us the problem...part of whatever she swallowed went into her lungs.

The solution was what we had been trying to avoid since she left the NICU: a g-tube (a permanent feeding tube in her stomach). Since we were in the process of changing medical groups and hospitals, Natalie had an ng-tube (a temporary tube down her nose to her stomach) for one month until we were in the new medical group and could get the g-tube surgery scheduled. Her weight immediately started to increase after the ng-tube (she was one pound over her birth weight at 3 months of age). For the first year of life, Natalie had severe reflux, but it was controlled with a combination of medicines and thickening her formula with baby cereal. By about 16 months of age, she had completely outgrown the reflux.

Natalie had a PDA at birth, but that closed on its own. She also has a bicuspid aortic valve, but the cardiologist says her heart is currently functioning well. It may be something that causes a problem when she's 20-40 years old.

Natalie had the g-tube placed at 4 months of age, and got on the waiting list for e-stim therapy to help her learn to eat by mouth and swallow safely. She started e-stim at 10 months of age. For the first six months, the therapy was three times a week, and twice a week for the next six months. After one year of therapy, she was eating age-appropriate foods and only using the g-tube for supplemental liquids. She still needed her liquids by mouth to be thickened a very little bit.

After having pneumonia at such a young age, Natalie had breathing treatments for a long time, but we've slowly weaned her off those, and her lungs are healthy. She stopped having a problem with low oxygen saturation as soon as she got the ng-tube and then the g-tube.

At about one year of age, Natalie had her first set of ear tubes to drain fluid from her eardrums. She wasn't having ear infections, but there was a lot of fluid in her ears, so she wasn't hearing well. She continues to have the ear tubes replaced when they fall out. Her first pediatrician thought she saw a submucosal cleft palate, but Natalie's ENT says her palate, while very high, is not cleft.

Natalie got her first pair of glasses at 18 months (she is quite nearsighted). A pediatric ophthalmologist checks the pressure in Natalie's eyes on a regular basis (the pressure is a little higher than he would like to see). She has cupping of the optic nerve, which would tend to indicate glaucoma. However, it is common for people with RTS to have cupped optic nerves without glaucoma...but it is also more common than the average population for people with RTS to have glaucoma. The doctor says she doesn't have the high pressures of full-blown glaucoma, but we still need to be careful. We give her drops in her eyes nightly to make sure the pressure doesn't damage her eyes.

Six months after she left e-stim therapy, another swallow study showed that Natalie didn't need her liquids by mouth thickened any more. We were still conservative in removing her g-tube, wanting her to prove herself capable of sustaining well during a winter sickness before removing the tube. We finally had the tube removed when she was 3 years and 4 months old, but she's been eating on her own since she was about 2 years old.

Natalie started physical and occupational therapy at about 2 months of age. We were very blessed that the therapists came to our home for over a year. After Natalie completed her e-stim therapy at the local hospital, we started going to the clinic for physical therapy instead of the therapist coming to our home. At about 2.5 years of age, Natalie started speech therapy at the same clinic.

When Natalie turned 3 years, she entered a preschool class for children with delays at a local public school. She now gets her speech therapy and occupational therapy at school, and still goes to the clinic for physical therapy. Her preschool class meets for 2.5 hours, four days a week.

Natalie started crawling at about 18 months of age, and started walking at 29 months of age, but really decided walking was the way to go at 30 months of age. She started verbalizing for speech right before she turned 3, and hasn't looked back. The progression for speech is harder to measure because it is so slow day to day, but she is definitely speaking. She still uses sign language more than speech, and sign is very important to her speech development, but speech is gradually outpacing sign.

We are convinced that Natalie's potential is great: so far, she's shown us that she can do everything, it just takes longer for her to learn to do it. When we raise our expectations, she amazes us in what she can do.

Natalie's best therapists are her two brothers, Lukas and Konrad. She sees what comes easy for them, and tries to copy them...and pretty soon it's easy for her too! And the love the three of them share is truly wonderful to see.

Happy 3 1/2 Birthday, Natalie!


Brandi said...

Wow Cindy, I am in tears. What an inspiration. It seems like Nathan is paralleling Natalie to a T with the feeding issues. Our SLP is not to fond of E-Stim, but I may find someone else to do it. It seems that so many RTS kids have benefited from it.

What an amazing little girl you have. I am encouraged by all of her progress. You are an incredible mom. Thanks for sharing!

Terri H-E said...

What a team your family makes! Natalie is one of my heroes, as is her mama.

Jessica mommy to Alex/ RTS said...

Very encouraging! Happy three and a half Natalie!

angie said...

Yeah Natalie,
Look how far you have come...and you just keep going! You are AMAZING! Happy 3 1/2 birthday sweet girl!

Pudgy Pencils said...

Just came across your blog, wow I am so encouraged about all Natalie's speech progress!! So cool :D I loved seeing the vid of her talking outside ;D Thanks for posting!!
Mommy to Mason,

Vanessa Vanbeusekom said...

Thanks for sharing this story. It's been great to see what is possible from experienced parents like yourselves. I will be contacting you for insight as we travel along on our journey with our little one.
Much thanks