Monday, January 6, 2014

A new doctor.

In November we saw Leah's geneticist Dr. Longo. At that time we asked him if we have exhausted him and all the doctors at PCMC? If so, we need to move on. Leah doesn't have time to waste. We told him that we are ready to seek doctors outside of Utah. He said before you leave the state you need to see Dr. Swaboda. So we did...we saw her last Thursday.

It was a longer visit than planned. We got to the U of U neuro clinic at 10:00 a.m. and meet with a genetic counselor for about an hour and gave her Leah's background. She was blown away by Leah's chart...yes, it's a book! Then Dr. Swaboda came in and talked with us and examined Leah. Dr. Swaboda is a Neurologist and a Geneticist, she specializes in movement disorders. She runs a program up at the U of U that specializes in researching these disorders. She asked if we could spend the day up there and she will spend time observing Leah and run some tests. They also took blood and did a spinal tap to test for motor disorders. She believes that Leah was born with a movement disorder and when Leah got her immunizations it brought out her disorder. She told us that she doesn't want us to get our hopes up but that there are a couple disorders that she could have that can be treated. We will get the results of the spinal tap in three weeks. We don't know how long it will take the get the results of the blood work.

So many times I asked the doctors: why doesn't my baby cry or move? They just shrugged their shoulders at me. I told the doctors so many times that I know Leah has something wrong with her and that her seizures are only a side effect to what's going on in her body. This is the first time that everything makes sense when we went to see a doctor. Everything she said made sense. 

She told us that Leah has torticollis and scoliosis. Poor girl! What else does this girl have to go through...

The doctor is extremely concerned with the amount of vomiting that's happening. She hooked Leah up to a pulse oxygen meter and Leah averaged a 94%. She believes Leah may have had some lung damage from aspiration or that her scoliosis is pressing on one of her lungs. She put Leah in different positions and Leah's pulse ox went down to 91%. She wants us to have a pulse ox meter at home and oxygen. She also wants Leah to have an overnight pulse oximeter study done. This would be done in our home. Then depending on what that shows she will order a formal sleep study. 

Dr. Swaboda highly recommends that Leah gets a Nissen surgery done. Its a procedure where they laparoscopically close off her stomach. She believes that if we don't do this chances are very high that Leah will pass away because of aspiration. She said depending on the results of these tests and if they find a disorder that's treatable then the Nissen would probably not have to be preformed. If they don't find anything then the Nissen would need to be preformed ASAP. 

So much information to take in. We are still trying to take all this in!

We pray that Leah has a condition that's treatable.

Leah gave us small smiles over the weekend. It was priceless!  

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