Metabolics

Last week we continued our search for answers to Logan's medical perplexities. We saw a metabolic specialist last Friday. It was an interesting appointment. This was a new doctor to us as well as to the clinic. We have been waiting for him to arrive as there was not previously such a specialist at our genetics clinic. 

He went through the usual history and physical. Nothing new to us. During the visit, it was a little awkward. I could tell he was new and still trying to find his away around the exam room. It felt like Logan was his first patient at the clinic! He seems very intelligent and I could tell he was really listening to our story and truly did a detailed exam. After that he discussed the next step. He has a few diseases in mind that he would like to test Logan for. He also wants to talk with Logan's neurologist to discuss Logan's neurotransmitters. He had testing done (I think it was a spinal tap? It was a long time ago!). One of them was low and this doctor wants to look at it further to see if there is a therapy that could help increase the level. I'm not sure how this does or does not affect Logan. It is not one of the common neurotransmitters like dopamine. We will see what he comes up with. 

The doctor also wants to look closer at his MRI. I also mentioned my niece who had strikingly similar symptoms as Logan. He was interested in this medical history. After that part of the discussion, he mentioned the National Institutes of Health. He asked if we knew of their undiagnosed disease clinic. Of course I did, I've looked at there website a million times. This is a program that takes patients with undiagnosed conditions, brings them to the NIH in Maryland, if they qualify, and work with many specialists to find a diagnosis. Google the clinic and you will find a better summary than I am providing. 

He mentioned that he used to work at the NIH and that he would be happy to submit a request for Logan to go to the clinic if we cannot come up with answers. I have a feeling my jaw was on the floor at that moment. 

I was suddenly a fan of this doctor! He did not have all the answers at that moment but seemed genuinely interested in helping us find answers. He never made us feel like we were on a futile mission. He never questioned our intentions. He understood our journey for answers goes beyond Logan and into the future generations of our family. I will update the blog as I have news on this front. We will start testing in June. 

Below is a picture of Logan and his cousin Marissa. She graduates from high school this week. Marissa has always been so kind and loving to Logan. She has such a big heart! We know she will accomplish great things someday! Logan won't be able to make it to the grad party but Lauren and I will be there to represent. 

And lastly, a shout out to my niece Taylor...Congrats on making the cheer squad! You go girl!