Quest Across the States (3): Hopes and Fears and Possibilities I Never Knew Were Possible


We stumbled off the shuttle and up to the 16th floor. The first wall was made of glass. The sky was before us, and the city below. We left the clouds and continued to Desk 16 East. Wavy walls with passive artwork enclosed the area at Desk 16 East. Disney Jr entertained in HD in one corner, and on the opposite wall an interactive educational animal tv waited to be played with. Curved cushioned couches strung through room, and a Magician disguised as a Bringer of Books thrilled waiting children.

Behind Door Number Three was Dr. R’s office, where we visited for three and a half hours. There was talking and reading and searching and looking and jumping and face making. We entered Minnesota and Door Number Three with mutated Xq22.1-22.2 on the table, ready to be dissected and discovered. We left Door Number Three three hours later with a dismissed duplication replaced with hopes and fears and possibilities I never knew were possible.

Degenerative Disorder was the Savannah conclusion. Horrid heavy words that have lurked in the shadows of my mind and heart for the past five years. Behind Door Number Three, they were in full light. Extra bright, medical examining light. Degenerative Disorders have been dismissed by two other specialists, so I used their justification to question the declaration. After all, some skills come back. Not everything is lost forever. But there are a large number of Degenerative Disorders that have periods of stagnation or re-emergence or even gain. Even with some types of Rhett’s there are “honeymoon periods.” When faced with it in the light, there are a myriad of Degenerative Disorders and even more variations of exhibition. There are Amino Acid Degenerative Disorders, Metabolic Degenerative Disorders, Degenerative Disorders that express themselves Autistically, and those are just a few. Savannah will be tested for all, but the playing field will not be level.

Type C Niemann-Pike Disease (NPC) is the primary suspect. NPC is commonly misdiagnosed as learning disability, mental retardation, clumsiness and developmental delay. With NPC, lipids fail to metabolize. With NPC, lipids build up in the brain. With NPC, a victim is not able to vertically track. And they are victims. With NPC, a victim may live to twenty. Maybe. NPC is fatal. (

The second possibility is Anti-NMDA (N-methyl D-aspartate) receptor encephalitis. Anti -NMDAR encephalitis is just another auto-immune disorder. In Arthritis, the immune system attacks the joints. In Fibromyalgia, the immune system attacks the nerves. In Anti-NMDAR encephalitis, the immune system attacks the brain. Anti-NMDAR encephalitis only recently became recognized, earning its own identity in 2007. It is usually associated with tumors and was originally diagnosed in adult women. While it is still a female dominated disease, it has since been discovered in children and tumors are not necessarily involved. Anti-NMDAR encephalitis has been called “the Demonic Disease.” It is notorious for stealing the minds of women and girls. It starts with memory loss, then aggression until finally psychosis arrives. Girls who were kind and affectionate become abusive and volatile. Competent working women can’t remember names of ling-standing colleagues and become dangerously violent. There is no recognized pattern of onset with the Demonic Disease. How many times, not recognizing the wild creature in my child’s body, using her own nails to claw at her flesh, have I jokingly suggested an exorcist. Now, however there is hope. Being an auto-immune disease, the treatment is the same as Fibromyalgia or Lupus. Once the immune system is regulated, symptoms begin to reverse. Seriously, symptoms reverse. Only 25% of the Demonic Disease’s victims do not make a complete recovery of symptoms. ( Of course, since Savannah’s symptoms have been around most of her life, permanent damage would be expected, but most symptoms would reverse. I can’t even imagine. There is hope of having Old Savannah back. It is the Demon that has brought hope.

Of course those are only two of a plethora. The results could still bring any number if possibilities.

Joseph, however, was a different story. 2.6% was the magic number, the number under the curve. Seven and a half years ago, my little man decided he was done growing. I watched it slow with each increasing monitor, and felt the calmness growing within, until the emergency caesarean. He was born biting and fighting and in the 3%. His height and weight have been closely monitored since. He jumped into the 5%, then 10% and finally the 25%. Then back to the 10%, where he stabilized until eighteen months ago, when we revisited the 5% and then slid into the 3% six months ago, only to land in the 2.6% at the Mayo Clinic. That combined with his complaints of his heart feeling fast and his recent wheezing sent up red flags. Shock settled over me with a numbing fog. This was my neuro-typical kid. This was my easy child. This was my reminder of normal, and it was being stripped away.

The day was stacked with tests: blood work for both kids, urine test for Savannah, wrist x-ray for Joseph, skin biopsy for Savannah and EKG for Joseph. More appointments were set with an Ophthalmologist, Psychiatrist, Endocrinologist, coming back full circle to Dr R again.

We were all exhausted and irritable and stunned by the time we returned to the hotel. It was only Day 1, and everything had changed. All we could do was ride the wave that flung us about. Ride the wave and wait.


3 responses to “Quest Across the States (3): Hopes and Fears and Possibilities I Never Knew Were Possible

  • Anonymous

    Praying for all of you, Elizabeth, especially Savannah and Joseph. You are a strong, courageous and devoted mother; your children are lucky to have you.

  • Leslie Stanga

    I didn’t mean to be listed as anonymous in the above comment.

  • Theresa Borders

    I had no idea these diagnosis were even a possibilty! However, by knowing what we are dealing with. we’re able to know how to treat the disorder; for that I am grateful. With this lump in my throat I find it hard to breathe, but I pray, pray, pray for our precious Savannah and for a very good outcome. She is ‘your blessing’ and she is our blessing! We have always said, ‘everyone who meets Savannah loves her’…and that continues to this day. I am praying for Savannah and Joseph. Thank you for the updates. I know you must be overwelmed and I appreciated you letting us know how things are going. Blessings to all of you. Theresa/grandma Tree

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s

%d bloggers like this: