a long shot.... but still hopeful....

So, a few months ago, I came across an epilepsy diagnosis that literally gave me goose bumps.  As I read through all the information I could find, I couldn't believe how much it sounded like Hannah.  I called Hannah's genetics doctor and he agreed that it was definitley worth testing.  drum roll please.......  R (20) Epilepsy Syndrome (or ring 20).....    There is a foundation set up to share awareness about this diagnosis...

http://www.ring20.org/r20syndrome/index.aspx

Ring chromosome 20 epilepsy syndrome, also known as r(20) syndrome, is a rare chromosomal anomaly resulting from a break on each arm of chromosome 20 resulting in ring formation. In r(20) syndrome, the breakpoint of most patients is in the p13q13.33 region of chromosome 20. This syndrome is characterized by medically intractable epilepsy, nocturnal subtle seizures, behavioral problems and mild mental impairment. Unlike other chromosomal aberrations, dysmorphism (major or minor congenital malformation) is rarely reported.


Epilepsy is a constant feature of this syndrome and in many cases is intractable and drug resistant. Seizures are often complex partial in type and reported as episodes of altered consciousness with staring, oral automatisms, unspecified automatic behavior, focal motor symptomsand/or head turning. Subtle nocturnal behavioral changes such as stretching, rubbing and turning have been observed which resemble normal arousal behavior. In addition, subtle nocturnal seizures (SNS) and subtle nocturnal frontal lobe seizures (SNFLS) are also reported Seizures are often difficult to control with antiepileptic medications.

Today was our genetics appointment.  I have been very reserved because I don't want to get my hopes up of after almost 10 years, to finally have an answer.  I went to the appointment loaded with my information all about it.  We work with a wonderful resident who was very attentive and felt like it was a very good thing to test for.

Diagnosis of ring chromosome 20 syndrome can be made by recognition of certain characteristic clinical features; however, definitive diagnosis requires chromosomal testing of the affected person's cells. This is most easily done by looking at the chromosome pattern (karyotype) in blood cells but any other tissue including skin could be examined. Since chromosomal analysis or karyotype testing is not a routine investigation when epilepsy first presents, the diagnosis of r(20) syndrome may be delayed or go unrecognized. In other words, some people with difficult to control epilepsy may have a ring chromosome 20 but be unaware of it. Almost all parents of individuals with r(20) syndrome have no evidence of r(20) syndrome in their own blood chromosome analysis. A few individuals, typically relatives of affected patients , have been found to have a ring chromosome 20 without any evidence of symptoms. Why these people are protected against development of epilepsy remains unknown. Neuroimaging studies and metabolic studies are unrevealing in this disorder

So, we have already done the chromosome array test.  It showed normal chromosomes.  But the following is what really caught my attention.....

Since chromosomal analysis or karyotype testing is not a routine investigation when epilepsy first presents, the diagnosis of r(20) syndrome may be delayed or go unrecognized.

Please note:
1) We have seen the ring 20 in as few as 5% of cells, and we recommend requesting a screen for chromosomal mosaicism.
2) Newer array technology will NOT detect the ring chromosome and we recommend standard metaphase chromosome analysis.
We ask that you please consider chromosomal analysis if you have a patient (age 0-17) with the following symptoms:
predominantly complex partial seizures


medically refractory epilepsy with no etiology identified


Lennox-Gastaut-like features with no etiology identified


frequent subtle nocturnal seizures (SNS) and/or subtle nocturnal frontal lobe seizures (SNFL)


EEG showing prolonged high voltage frontally dominant slowing intermixed with spikes or sharp waves


EEG showing overlapping features of continuous slow spike and wave discharges in sleep (CSWS) and electrical status epilepticus in sleep (ESES)


normal childhood development until onset of epilepsy


lack of dysmorphism or other congenital malformations


cognitive impairment/learning difficulties/mild retardation


WOW!!!  There is still hope.  This abnormal ring can be found in less than 5% of the cells.  So, after much discussion today, we did a skin biopsy on Hannah.  They said the skin cells would be the best modality to test.  Before the test, the attending came in.  He agreed to do the test but, started to poo poo it.  I think he wanted me to know it was really a long shot.  He said he thought it was less than 1% chance of showing this mosaic ring.  He said they very rarely test for mosaic chromosomes (exactly why R (20) in underdiagnosed!!)  Okay, so he deflated me, but I am still hopeful.  After all, Hannah has NEVER done anything by the book.

Hannah did FANTASTIC with the biopsy.  I could not have be more proud of her.  They put numbing cream on her arm, waited 20 minutes (thank God for the new DS game she got for her birthday), and then they retrieved a chunk of her skin.  She didn't even flinch!  (must have really been numb).  I think I flinched for her.....  She is so brave.

So, now we wait.....  2-3 weeks.  I am still hopeful.....