Second Opinion for Sadie

Sadie had a second opinion at Children’s Hospital in Birmingham yesterday. We were very thankful to get this appointment. It has been a long five months since the last EEG.

In April, Sadie was put on a new medicine that seemed to work. She began sleeping well and her seizures were seemingly under control. The down side was that it caused her to regress in her language as well as potty training and motor skills. With our neurologist in Augusta, we decided to take her off that med and try a new one. She has been on the new one since May and we have seen no improvement. She has woken up multiple times a night since May. I think she slept 1 night in all of June and July! She is having multiple seizures each week and most nights. Overall, Sadie is simply not improving. After the regression, her OT and I feel that she has not gone backwards anymore, but is not progressing either.  We are obviously discouraged by all of this and just want someone to lead us in the right direction. Without getting our hopes too high, we wanted to be optimistic about the appointment but realistic at the same time. We have honestly just felt so let down this past year by several doctors.

The appointment could not have gone any better!!! We are beyond thankful for this man’s wisdom and direction! It is always hard to sum up the past three years with Sadie and give an accurate portrayal of what her issues have been. As we waited during the EEG, I attempted to make a time line of all the events of the past three years and was amazed all over again at how nuts it has been!

Our prayers were answered and we praise the Lord for His goodness! Dr. Mathisen definitely looked at Sadie holistically (WHOO HOO!!!), did not make his judgments on the EEG alone, gave us great direction on the next steps (HALLELUIAH THERE IS A NEXT STEP!), and changed/tweaked her meds (YEA!!!) It was the first time that we felt like a doctor completely understood everything we have been saying for this past year!

Dr. Mathisen could understand why the neurologist in Augusta diagnosed Sadie with Benign Rolandic Epilepsy (BRE) bc her EEG is very characteristic of BRE. However, looking at Sadie holistically from the beginning of her life, he can see that there are discrepancies. For example,  her first seizure in Macon, at 7 months old with the flushing red of her face, rapid blinking, etc…is not characteristic of BRE, the age onset is too early to be BRE, as well as the fact that these type of seizures have happened three times. She has had seizures unrelated to sleep (not characteristic of BRE), the fact that it has been such a challenge to treat the seizures (not characteristic of BRE), all the other issues with her developmental delay, speech disorder, sensory disorder, etc…has to point to something. Usually he said all these things do stack up and point to something (DUH….what we have been saying all along!) He said it was very suspicious that we are not getting any results with Sadie’s meds and that we should be bc BRE is typically easy to treat.

He also pointed out that both meds she has been on go through the sodium channel. Since neither of these meds have worked, he did a genetic test on her SCN1A, which I don’t quite understand yet, but basically there are types of epilepsy that result in a ”genetic mistake” with this gene. Sadie did well on the blood work for that! He lessened one med, took her off another one, changed one, and put her on another type of med that would produce  “quick and easy “ results to lessening the seizures at night (WHOO HOO!) This particular med is temporary but will help him to further see what is going on! Also, he scheduled Sadie for a 24 hour EEG in a month or so as well as a spinal tap that will determine other genetic factors with Sadie’s neurotransmitters. He also took off the “Benign” part of her diagnosis saying that it is “definitely not benign”…for now he is calling it Partial Epilepsy.

It feels so good to finally be HEARD and for someone to lead us in the right direction. Of course, these tests can come back negative, but it is a place to start. Joe and I both feel SO confident in this doctor and are more than willing to drive the 5 hours for follow up visits and testing. So thankful for how the Lord directed us to Dr. Mathisen and answered our prayers! Thank you for praying with us and being a part of what God is doing in Sadie’s life and ours! We are always so grateful!

The hunt continues…but this time we are renewed and hopeful that we are on the correct course…finally!