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1 World, 1 Diagnosis

2 May
JS Map

Concept by Elizabeth Walker Joshi, designed by Ross at LTL Prints

This is a graphic that was created for the 2013 Joubert Syndrome conference taking place this summer. The idea of this project is to show that Joubert Syndrome can affect children in any part of the world, of any culture or ethnic background. Look at all of these sweet faces! A whole map filled with rare and wonderful kids. Can you spot the tiny TigerOne in blue?

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Feeding My Baby Barium and The Battle of The Bottle

17 Feb

It is fitting that during feeding tube awareness week, TigerOne had his first swallow study.

You see, when he had RSV a few weeks ago an x-ray was done and we discovered that he had a touch of pneumonia. It wasn’t entirely clear if the pneumonia was caused by the virus, or if he had actually inhaled some milk during one of our feeding sessions. So, to be safe oral feeds were put on hold while his lungs recuperated from the pneumonia and we could do a swallow study to see what was up.

By the time the swallow study rolled around this past Monday, TigerOne hadn’t eaten orally for a few weeks. I attempted to give him a few small feeds the two days leading up to the study so that the lab wouldn’t be his first swallow after such a long break. On Monday, I brought TigerOne to the fluoroscopy department of the hospital, where they sat him in a special seat and basically did a real-time x-ray of his mouth and throat. I put on a lead apron and fed him a bottle of chalky white apple flavored modified barium, and then we all watched where the fluid went after he swallowed it.

Scene from early today at #tigerone's swallow study. Sort of fascinating to watch. #MBS #fluoroscopy

Modifed Barium Swallow

Above is a picture of the floroscopy screen, you can see the nipple of the bottle in black on the upper left and his mouth and throat in blue. Once I got past the horror of feeding my baby barium and exposing him to all that radiation, I was actually pretty fascinated by the study. He would take a small sip, and blue drops would trickle down his throat on the screen.

We fed TigerOne two different consistencies of barium, one that emulated milk, and another that had been thickened a little to a nectar consistency, which he was able to manage a little better. The study revealed that none of the fluids are being aspirated when he swallows, which is great. But it also revealed that he isn’t doing a very good job sucking, or managing his swallows. The process of swallowing happens slower for him than it should, and he doesn’t clear all of the fluid from his throat very efficiently.

What all that means is that there is no real end to tube feeding in sight, and that we may have to seriously consider g-tube surgery at some point, because NG tubes are supposed to be for short-term use. Mostly though, it means we just need to keep up the good fight and practice, practice, practice oral feeds.

Tiny bottle for feeding therapy

Tiny Bottle of Frustration

When a baby turns 3 months old, the instinct to suck goes away and sucking becomes a learned skill. So, the fact that TigerOne is 3.5 months old and had a prolonged break from oral feeds is really bad timing. Returning to oral feeds his week has been really frusting for both of us, it been worse than starting from square one because his suck instinct is almost gone. Is there a square negative one? I put the bottle in his mouth and he just looks at me, like “what am I supposed to do with this?” He will bite on the nipple, lick it, smack his lips around it, and do pretty much anything but suck. He will taste a drop of the milk and get extremely frustrated that he can’t get more of it.

This makes me feel frustrated but mostly sad. Sad that there is something missing in his brain that means he doesn’t have the coordination to do something so basic and instinctual. Sad that there isn’t more that I can do to help him learn. We just persevere. I offer him a one ounce bottle of breast milk thickened to nectar consistency 5 times a day, and maybe two of those times I can get him to eat half of it, the other times he refuses the bottle.

Learning to suck isn’t just about eating a bottle. It’s also about conditioning his mouth to one day be able to eat solid foods, and strengthening the muscles that will affect his ability to speak. This skill is the foundation for a lot of things. So, when I sit down with him and try to coax him into sucking, we are working for much more than freedom from the feeding tube. I guess the important thing is that despite the challenges we just keep working through it, that’s all we can do.

Fall seven times, Stand up Eight.

Japanese Proverb

Wright’s Law

28 Dec

On Christmas Eve, the New York Times featured a video called Wright’s Law on their website. It profiles a high school science teacher who has a son with Joubert Syndrome (JS). He seems like a wonderful teacher and an incredible father.

Watching this video was the first time that I had the opportunity to see someone with JS other than my son. The boy in this video, Adam, is pretty severely affected by the syndrome and while I know that JS is a broad spectrum disorder and we won’t know how TigerOne is affected until he is older, it was pretty emotional to see how JS affects this child and his family.

Ever since we got TigerOne’s diagnosis we have hoped for the best while bracing ourselves for all of the potential manifestations of the disorder. I dream that my son will be able to walk and talk one day, but have no idea if he ever will. It’s easy to get lost in the overwhelm of his possible future. This video reminds me that no matter how it all shakes out, the power of a parent’s dedication to their child is epic. Despite the challenges that JS might bring, love lives.

Wright's Law

Wright’s Law
DECEMBER 24, 2012
By Zack Conkle

Jeffrey Wright uses wacky experiments to teach children about the universe, but it is his own personal story that teaches them the true meaning of life.