Back to Seattle

"First of all, I'd like to apologize...."

These are the words on the other end of the phone call Kent received this morning from the Biochemical Geneticist in Seattle.

Let's go back 48 hours...

Preparing for our appointment on Tuesday, I had my little note pad full of questions that have been swarming around in my mind for weeks now, regarding Menkes. As was mentioned in the diagnosis post, Kent was the one who suspected Menkes and requested our local physician to run the copper labs. Once the tests showed the copper levels were low, Kent faxed a copy to the Dr. in Seattle for confirmation along with questions about what action to take at this point. The Geneticist's reaction to the test results, didn't leave us extremely satisfied. So with note pad in hand and fears anxious to be quieted, we arrived at our appointment ready to do what it takes to help our little Bubba.

The doctor flat out said, "It is not Menkes, Menkes is a horrible disease." Kent respectfully asked what else would make Cannon's copper so low. The geneticist said that the level was not really that low. All the publications written by the renouned Menkes specialist have said anything below a certain level is enough proof of diagnosis, Cannon's level was nearly untraceable. Our geneticist kept telling us the reasons why he feels Cannon still has a mitochondrial disease, not Menkes. The fact that Cannon has not had seizures does not even make him a candidate for Menkes. The rest of the appointment felt .... unnecessary. I say unnecessary because our doctor was giving us more information about mitochondrial problems and requesting more tests to chase the mitochondrial disorder.

I was so thankful that I have been learning as much as I can from parents that actually have a child with Menkes so I knew that Cannon was fitting the clinical symptoms. many parents encouraged me to ask questions, to follow my gut, and listen to myself. WE requested that they test Cannon's hair for pilli torti, twisted hair, to support our suspicions. We have not seen Cannon have any noticeable seizures but we have been concerned with twitching ankles and wrists and something (I can't quite place it) that wakes him up in his sleep. Again, WE requested another test- the EEG.

Now that you have been caught up on our appointments in further detail....

Present Day

"First of all, I'd like to apologize...."

These are the words on the other end of the phone call Kent received this morning from the Biochemical Geneticist in Seattle. The pathology dept. said Cannon's hair did come back twisted and the EEG showed abnormal results with borderline seizure activity. Needless to say, we are packing our suitcases once again. We have an appointment with Neurology at 9 AM. My parents will be staying with Ethan and Ella while Kent and I take Cannon for another long day.

In the thick of all this, I am overwhlemed with the blessing we are receiving. I read a quote the other day that reads: "Don't Count Your Blessings. Share them." I am now going to go ahead and count them, and share them.

1.My parents are here, which takes an enormous amount of stress off because we don't have to scramble to find somewhere for our kids to go.

2. Neurology can takes months to get into but we somehow got an appointment for tomorrow morning

3. After connecting with other Menkes parents, we went into the appointment feeling confidant and prepared to push forward with tests.

4. Kent was guided to find the right medical journals to begin the testing for Menkes- if not we would still be looking and testing for the wrong diagnosis.

5. Kent has a job that makes it possible for him to take off the days needed to be to any and every appointment.

6. We live within hours of a top-ranking Children's Hospital

7. I know that I am blessed to be the mother of the most beautiful little Cannon boy

8. We are overwhelmed by the support and love of those surrounding us. We couldn't go through this without sweet emails, letters, phone calls and texts.

I could go on and on, but must get on the road...