Cousins

                               

    

My niece Sarah left this world five years ago and now looks over us from heaven. She was only two and a half. Sarah had a neurodegenerative disorder that was undiagnosed. She and Logan have shared a lot of similarities in the path of their lives while both placing a unique spin. Both with feeding tubes and both with chronic respiratory infections. Both children with severe developmental delays.

Now most recently, we know that both share almost identical changes of the brain. My sister had a copy of Sarah's MRI sent to Logan's geneticist. The geneticist as well as three other doctors viewed both children's scans and agree that the degeneration is almost identical. WOW!

This is a huge clue in the search for a diagnosis. Now we know that this is most likely something passed through the maternal DNA as it is my sister and I that conceived our children. Had it been me and a sister in law this would not make sense. Most mitochondrial disorders are inherited. Mitochondrial DNA is inherited from the mother. Nuclear DNA is inherited from both parents. This is why we now will move toward further mitochondrial testing.

So, it may be that I gave Logan this elusive problem. I could sit and blame myself and feel all the guilt in the world but right now I don't. How could I have known? Hopefully we will find a diagnosis and target where the mistake in Logan's DNA happened. We may not be able to fix Logan but we may help future generations in our family.

So this now sends us down the path of mitochondrial testing. We will wait for his Exome sequencing to come back and then pursue new testing. In the meantime, we continue the biotin and thiamine therapy. The large arm and leg movements Logan makes seem to be less severe. We think it may be from the supplements but are not sure. He sees the neurologist in two weeks. We hope to gain more insight into the therapy at that appointment. 

On a reaaly high note, Logan had a speech therapy appointment. We have been waiting for the okay from his doctors to start using a passy-muir valve. This is also known as a speaking valve. I have been anxiously waiting for this day hoping it would work. Praying to hear my son make noise again.

Guess what, he did. He was a rock star and performed better than expected. The speaking valve can be dangerous because it only allows air into the trachea, not out. A person using this has to be able to exhale through the mouth or nose. The goal is to have the air inhaled into the trach and when he exhales, the air passes through the vocal cords giving him an opportunity to make noise. He hesitated a first by holding his breath but quickly figured out that he had to breathe out of his mouth. He made a handful of noises and brought tears to our eyes. I don't expect him to speak but now he will have the opportunity to communicate wether by crying or noise making. This is so cool!

I will take a video next time and post it. I was a little distracted by the joy of hearing his voice again! Oh, the small miracles!

Here is a picture of the valve. The image is huge!