Tier II

We were so sure that after we completed our mammoth list of tests from our developmental specialist that we would have a direction for Lydia. How could we not?! Our two biggest tests that we thought would give us some guidance were the MRI and genetic test.

When we got the news that both came back normal, it was really hard. There were tears. And it sounds horrible and crazy but the unknown is so frightening to me. Some of the possibilities that the doctors had brought up were just devastating and not knowing was becoming emotionally exhausting.

After the “normal” results, Mark and I didn’t know where we went from there. We had an appointment with our neurologist in April but that was three months away and it seemed like a really long time to just be waiting.

Lydia is now officially classified as a “complex” patient and I am getting better and better at reaching out. I called up our care manager and told her that we were concerned about what the next step would be and about waiting three months before we have another meeting.

After a couple days, we had an appointment with our neurologist over telehealth. We were really nervous because we had no idea what to expect at this appointment {our first one, we pretty much knew they would push for a MRI and genetic testing}.

There were two things I really wanted to bring up with our neurologist – first, was to find our what his opinion was about the possible diagnosis that have been brought up and, two, what is the next step.

Possible Diagnosis

After we met with our developmental specialist in December, we found in her notes that she suspected Lydia of a specific disorder that was just devastating. We felt like we were prepared for a lot. We had accepted that Lydia might never walk or talk, and that she might never have the life that we hoped she would.

But this possible diagnosis was horrible. And it would greatly reduce her life expectancy. It was so hard. Mark and I were in this horrible situation of not wanting to jump to anything until we knew for sure, but also trying to prepare ourselves for the possibility of this {by the way, I have no idea how you prepare for this}. Mark and I were also concerned because this disorder only effects the physical body and so it wouldn’t account for Lydia’s mental/cognitive delays. So THEN we were worried we would not only have this horrible diagnosis but another one on top of it. It just felt like too much.

So I really wanted to know our neurologist’s thoughts on this. He told me that there had been A LOT of discussion about this. And while it is not off the table, he said it is his belief that it is not this. For one simple reason, it is much more likely that there is ONE disorder that is causing all of Lydia’s symptoms, rather than two.

This makes so much sense to us. And while we are so unbelievably happy that this isn’t the number one theory for Lydia anymore, we also know that there are probably thousands of other disorders {possibly really scary ones} that Lydia could still have. But, for now, we are enjoying a moment of big relief.

New Plan

So next up was deciding what our plan moving forward would be. We have officially entered “Tier II” in diagnosing. This is how our neurologist explained it to me. When you enter the world of “global developmental delay” {Lydia’s current diagnosis} you are literally in an ocean of possibilities. There are so many different disorders out there, and different levels within those disorders, and so it is very much like looking for a needle in a haystack.

So we were reminded {more than once} that this “journey” was going to be a long one. And it will just be tests and more tests until something reveals itself. But for the most part, it is a process of elimination.

Exome Sequencing

The first genetic test that we did was a broad, basic level genetic test. While this eliminated some things, they want to do a higher resolution genetic test. So next up, is exome sequencing. This is pretty simple on our end, they will take a blood sample and send it off to a special lab. This could take days to weeks to hear back.

Metabolism

This possibility is just crazy to me. Apparently, how Lydia’s body metabolizes could be the source of all of her problems. Have I mentioned how crazy that is? There is a possibility that Lydia has too much or too little of certain things in her body, and it can just be a case of managing those through diet and/or medication and she could be okay. This would be nothing short of a miracle. But as exciting as this is, our neurologist was also quick to remind me that this is quite unlikely. But wouldn’t it be amazing?!

They are basically going to do more detailed lab work. This is, again, pretty simple on our end, but Lydia will do more blood work and give a urine sample to run these tests.

EEG

The last thing on our list is to get a EEG. At our appointment in December, our doctor was also concerned that Lydia might be having seizures. We have decided to get a EEG to just check things out.

Final Thoughts

Our neurologist ended with reminding us that this will be a long journey. And also asked how we wanted to move forward with things. We want answers. The answers could be scary, but not knowing, is worse. We want to know how best to help our sweet girl. So luckily, our neurologist wants to move forward aggressively, and we agree.

So we will see what happens from these new tests and go from there.

We want to thank everyone who has been so kind in reaching out to us. This is a really isolating experience. We are grateful that we truly have more good days than bad. We know there is a plan for our Lydia. We are so grateful she is in our family. She fills us all with incredible joy and we plan to do everything we can do help her.