Amazing! I'm happy with the insurance company!! What?!!?

I had to follow up today with the geneticists today about the Exome Sequence Testing.  They were going to determine how much the insurance company was going to pay before moving forward with the study.  The study costs $9,000.  You can click here to read the specifics of the test at Baylor University, which is one of only two places in the United States offering this type of test. Exome Sequence Study at Baylor University.

They sent over the paperwork and this was the first thing I looked for and was amazed:

 See all those zeros!! That's right!  We pay nothing to find out more about our son and have this in depth study done to determine the origin of his anomalies and markings of any additional anomalies we have not yet discovered. Other specific indicators that can be found are detailed as follows:

• Identification of mutations in known disease genes for patients with atypical disease, or an extensive differential diagnosis based on his/her clinical presentation
• Diagnosis of a genetic disease that has been associated with multiple genes, but limited testing and/or no comprehensive panels are available
• Discovery of novel mutations and genes associated with Mendelian disorders

Most of our current cases are severely affected individuals who have remained undiagnosed for months to more than twenty years. These families have long struggled with the unknown; they have been truly in the dark and have watched helplessly as the undiagnosed condition worsens.. Without a definitive clinical diagnosis, therapeutic and preventative options are often restricted. To give just one example, options for family planning can be limited. This is one of many burdens that are being lifted with successful diagnosis through clinical exome sequencing. Reactions from the patients upon learning of the exome results have included relief and even tears of joy.

Clinical exome sequencing is a highly complex test. DNA is first isolated from blood, as with most genetic testing. The protein coding regions of the genome (exome) are then captured using a hybridization protocol and amplified. These are then sequenced using next-generation sequencing technology; each base is covered on average more than 100X. The data is analyzed by aligning to the human genome reference sequence and annotating any differences. Each difference, or variant, is then analyzed for frequency in the general population and likelihood to be associated with disease. Using data on the clinical history of each patient and family, including inheritance, each variant is interpreted by our medical team to identify the one(s) most likely to be causative of the patient’s symptoms.

Exome Testing Explained referenced above from the following site: Ambrygen FAQ - Exome Testing

How about that for some science studies for tonight.   The most important thing is this the next step for us and Thomas!  And we don't have to pay anything for a chance, a chance for more answers, a chance to clearly define if Thomas has been diagnosed properly so that he can get the utmost medical care for his conditions.  That is all I have ever wanted from the beginning of all of this!!  Praise God who answers our prayers and lets us know that he will never forsake us. 

Next step is to get his blood drawn and sent to Texas!! Then wait. .. 15 weeks.

Lamentations 3:22-26

22 Because of the LORD's great love we are not consumed,
for his compassions never fail.
23 They are new every morning;
great is your faithfulness.
24 I say to myself, "The LORD is my portion;
therefore I will wait for him."
25 The LORD is good to those whose hope is in him,
to the one who seeks him;
26 it is good to wait quietly
for the salvation of the LORD.