The Test Results are Back...

After a really long time we finally got the test results back from the $8,000 SMARD test. It was NEGATIVE! Blake Evan Smith Does not have SMARD.

We then did a $4,000 test to see if Blake had SMA. The results showed Blake did NOT have SMA.

We are awaiting results for TRPV4 Gene (transient receptor potential cation channel, subfamily V) a $2,000 test. If that test comes back negative we are in the process of getting pre approved for a $10,000 genome test. The genome tests all the genome genes in the body. This test would also include testing Becky and Chad. They will then compare which gene is defective and why.

The Neurologist is very confident that what Blake has is a Neuromuscular disease. Which we have known for a couple of years. There are hundreds of Neuromuscular Diseases. What is a Neuromuscular disease?

According to the University of Pittsburgh Department of Neurology.

A neuromuscular disease is a disorder that affects the peripheral nervous system. The peripheral nervous system includes muscles, the nerve-muscle (neuromuscular) junction, peripheral nerves in the limbs, and the motor-nerve cells in the spinal cord. Other spinal cord or brain diseases are not considered “neuromuscular” diseases.

Patients with neuromuscular diseases can have weakness, loss of muscle bulk, muscle twitching, cramping, numbness, tingling, and a host of other symptoms. Problems with the nerve-muscle junction can also cause droopy eyelids, double vision, and weakness that worsen with activity. Some neuromuscular disorders can also cause difficulty with swallowing and sometimes with breathing.

We had a trach-vent clinic Aug 15th at Primary Children's Hospital in SLC Utah. We were able to make an appointment with Dr. Kathryn Swoboda a Neurologist at The University of Utah- Primary Children Hospital. We have never met DR.Swoboda, the Neurologist we have been seeing is Ai Sakonju. However, these two doctors work together. So we were super excited to meet Dr. Swoboda. Our appointment time was 2:30pm. Becky being the awesome mother she is was early to the appointment and we were taken back 15 minutes early. From the moment Dr. Swoboda met Blake, she was elated. She had read up on Blake and was so excited to be working with such a unique case.

Back in April Dr. Sakonju ran a EMG test which is where we got the SMARD diagnosis because Blake scored so low. Well, Dr.Swoboda ran another EMG and got the exact same results as Dr.Sakonju did back in April. Dr. Swoboda's excitement was contagious she was calling in all kinds of doctors and nurses even student nurses to come and look at Blake. They took pictures and videos of Blake walking. Blake loved all the extra attention and was strutting his stuff. He was such a flirt.

There were a couple significant observations Dr.Swoboda noticed.

***First, when a normal person looks up they move their head to look up.

Blake does NOT

***Second, Blake Cannot or will not stick his tongue out. He moves it a little but that has some significant meaning in the nuro world.

Dr. Swoboda is scheduled out 3 months but she wanted Blake to come back tomorrow and have another test done. So we came back on Thurs Aug 16th and had another test done. We can't remember the name of the test. But they started an IV then they put some meds in the IV. Apparently when they put the meds in the IV there is suppose to be a profound response. Blake did not have a significant response like they were expecting. This ruled out another thing in the long list of possible neuromuscular diseases.

They are looking at sending us to a Mayo Clinic in Rochester, Minnesota. To Meet a Neurology team there. They will continue to figure out how we can best help Blake. And maybe just maybe get a Diagnosis.

Right now we are awaiting the approval for our genetic testing. Then, we have to wait the standard 6-8 weeks waiting period. We are definitely anticipating the results of this test.

We are excited it's not SMARD! We are relieved it's not SMA!

We are sad we do not have a Diagnosis. AGAIN!!