The Real Deal

Yesterday I got a call from Noah's neurologist saying that his blood work was back. He said it was negative for PMD...

What?!?!

You have got to be kidding. I have spent so much time researching and learning about this disease. Noah seemed like such a textbook connatal PMD kid there was no way in my mind that he could not have it. I was shocked to say the least.

The doctor went on to say how there were a few other options for some other genetic disorders he wanted to test for. But Noah's gene mutation might just be so rare that he has an unknown disorder. Great.

After I got off the phone with the doctor, I immediately went to the PMD FaceBook page. I posted how Noah's test results were negative and I was sad that we still had no answers, even after all this time. I was then emailed by Dr. Grace who is the Director of Diagnostics for Leukodystrophies at duPont Hospital in Delaware. She has done so much research for PMD. She knows what she's talking about! I asked her if she would mind taking a look at Noah's lab report when we are in Indianapolis in a few weeks. She said she would but I could also email her the report and she would be happy to look it over before then.

Awesome!

So this morning I made some calls and was able to have them fax Noah's lab report over to Dr. Grace. I didn't expect her to respond since she had told me she was going to be on vacation. But this afternoon when I got home I had an email back from her already.

Dear Doctor,

Devyn Henderson has asked me to take a look at the report of PLP1 testing for PMD on her son, Noah. I am Director of Diagnostics for Leukodystrophies in our Molecular Diagnostics Laboratory at the Alfred I. duPont Hospital  for Children in Wilmington, DE. We have been doing molecular diagnostics for PMD since the mid-1990s. I have reviewed the report from Baylor. It says that the results do not exclude the diagnosis of PMD and that genetic counseling is recommended. The lab also recommended carrier testing for Noah’s mother at no charge. I think that both genetic counseling and carrier testing are good suggestions.

Our genetic counselor, Sara Ennis, is available to consult with you if you contact her. I have alerted her that you might be contacting her. Her license does not allow her to counsel Devyn, but she can consult with you. If you have a geneticist or genetic counselor you prefer to work with, you may also give that person Sara’s contact information.

Most nucleotide changes in the PLP1 gene found in PMD patients are not found in other families and have not been published, so it is difficult to actually prove that the mutation is disease-causing. The reports can’t say that the mutation is pathogenic when it hasn’t been proven. However, there is sometimes evidence that it is pathogenic. In this case, I have run 4 programs that predict whether or not a mutation is disease causing or damaging. They all suggest that Noah’s change is disease causing or damaging. Also, if Devyn does not have the nucleotide change, it is considered to be further evidence.  But if she does have it, it doesn’t exclude the possibility that it is disease-causing.

Grace M. Hobson, PhD

Director of Diagnostics for Leukodystrophies

Molecular Diagnostics Laboratory

Alfred I. DuPont Hospital for Children

How freaking awesome is that! 

So for the rest of you who don't speak PMD/Neuro talk, I'll translate:
Basically the mutation to Noah's PLP1 gene will be different from any other family's mutation. That is why it is hard to actually prove that this mutation is causing him to have this disease. Dr. Grace ran his results through 4 programs and they have all suggested that Noah's mutation is, in fact, causing him to have PMD. I am also having my blood tested to see if I have the same mutation. If so, that means I am a carrier. If not, then that is an even bigger indication that this mutation really does cause Noah to have the disease. I hope that makes sense...

Anyway, I am so darn happy right now! I just want everyone to know that we finally have an answer. I never thought I would feel this way about such a devastating diagnosis. I just can't get over this high I am feeling right now. Noah has been such a mystery to everyone except for God for the past 10 months and now we know what we are dealing with. I am so over the moon, joyfully happy right now.