Well its just about official as official gets, I am nearing the finalization of my diagnosis of Atypical Rett Syndrome. Some of you may know that Rett Syndrome is a X linked disease / disorder that causes severe regression and other disorder. Surprisingly enough, all of my conditions fit right in one basket now. No more hundreds of different little differential diagnosis’s running around. Classic Rett Syndrome and Atypical Rett Syndrome are somewhat similar however Atypical Rett allows for more variants on the diagnostics. I am lucky because males do not survive because they don’t have a second MECP2 protein to make up for the mutated original MECP2 protein, apparently my moob is partial Klinefelters and explains why I survived. I have two MECP2 proteins probably.
So you probably wonder what are the criteria for Rett Syndrome and why do I meet them, well here you go!
Diagnostic Criteria: (Required for the recognition of Rett Syndrome)
• A period of normal development until between 6 – 18 months (had it)
• Normal head circumference at birth followed by a slowing of the rate of head growth with age (starting between 6 months and 4 years) (UPDATE: Unknown, but probable)
• Severely impaired expressive and receptive language (transient)
• Intellectual development appears to be severely delayed, but true intelligence is difficult to measure (Was severely delayed than caught up rapidly. Still very hard to measure due to my communication)
• Loss of purposeful hand skills at age 1-4 years (lasted for a short period)
• Repetitive hand movements including hand washing, hand wringing, hand clasping and hand mouthing which can be almost constant while awake (i constantly have to have my hands moving or i will be constantly chewing on my fingernails or fingers or sucking on them.)
• Shakiness of the torso, which also may involve the limbs, particularly when the child is upset or agitated (i shake and spasm the shakiness is the Rett spasms is the CP)
• Unsteady, wide-based, stiff-legged gait, and sometimes toe walking (Had that all my life until I had my major regression when I turned 14 and lost all walking mobility. Now back able to walking short distances unaided.)
Supportive Criteria: (Symptoms not required for the diagnosis of Rett Syndrome, but which may also be seen)
• Breathing dysfunctions which include beeath holding or apnea, hyperventilation and air swallowing which may result in abdominal swelling (Hypoventilation and apnea, Tracheostomied)
• EEG abnormalities which include slowing of normal electrical patterns, the appearance of epileptiform patterns and a reduction in REM sleep (Many epileptiform spikes and slowing events)
• Seizures (Yes)
• Muscle rigidity/spasticity/joint contractures (Yes)
• Scoliosis (Yes and Kyphosis)
• Teeth grinding (bruxism) (none that i know of)
• Small feet (Yes)
• Small hands (Yes)
• Growth retardation (Yes)
• Decreased body fat and muscle mass (Yes)
• Abnormal sleep patterns and irritability (Yes)
• Poor circulation of the lower extremities (Yes)
• Decreased mobility with age (Yes)
This all being said I look forward to going to my doctor and getting the final diagnosis put in pen on paper!
So what changes? Not much, however things become a lot simpler for me, I have Cerebral Palsy and Atypical Rett Syndrome. Simple and straightforward.
I will keep the blog up to date especially the day my diagnosis becomes official. and as more information comes to surface. At this point it is highly provisional.
Final Update: 5:49 PM Central Time
