Medical Summary

Lydia has intractable epilepsy, brain malformations and diminished white matter. Lydia doesn’t quite match any diagnosis yet and all the testing has come back negative or inconclusive. We are still trying to figure out what is going on with her, but she is thought to have a type of leukodystrophy. She is can move her head and arms a little bit, makes noises sometimes, cries and smiles. She’s a people person and calms down when cuddled.



     – Intractable epilepsy/Infantile Spasms/Hypsarrhythmia – seizures first diagnosed at 4-months-old

     – Microcephaly

     – Brain malformations / MRI findings:

                       Delayed myelination, absent white matter in both cerebral hemispheres

                       Generalized atrophy

                       Slight asymmetrical prominence of left lateral ventricle

                       Some prominence of sylvian cisterns

                       Some early myelination of white matter tracts on T1-weighted images

                       There is a markedly attenuated appearance of the corpus callosum


     – Cortical Vision Impairment (CVI)

ENT (Ear, Nose, Throat)

    – Small uvula

    – High palette


    – Heart murmur due to benign VSD (ventricular sepal defect) – closed now


     – Strawberry hemoglobin on lower back, disappearing

     – Prominent stork bites on back of neck, faint on forehead

Global Developmental Delays – Observed by parents since month one

     – Not lifting head (now she lifts her head but can’t hold it upright)

    – Not tracking objects (now she looks at things more, tracks a little bit)

    – No babbling, a couple of non-crying sounds (cute grunts, occasional moan or voiced sigh)

    – Not turning towards sounds (but she jumps at noises and definitely hears)

Pregnancy and delivery

    – Normal pregnancy, no complications

    – Prescribed morning sickness tablets for nausea; Unisom

    – Delivered on due date, 6lbs 3oz

    – Slow to cry at birth, not sure of apgar score but nothing was alarming


     -Passed newborn hearing screening

    – Early Infantile Epileptic Encephalopathy (EIEE) Genetic Panel – U of Chicago, no findings

    – Metabolic Testing, no findings

    – CGH gene chip array test, inconclusive findings

    – Blood Tests, normal

    – MRI, July 17th, 2013 – brain malformations, hypomyelination

    – MRI, Dec 2015 – absent white matter, lost brain mass

    – EEGs : hypsarrythmia

MEDICATIONS TRIED (for seizures)

     1) Topiramate/Topamax

     2) Phenobarbital

     3) Lamotrigine/Lamictal

     4) Prednisolone

     5) Keppra

     6)  B-6/Peridoxine

     7) Ketogenic Diet

     8) Sabril/ Vigabatrin

     9) Vagus Nerve Stimulator

   10) ONFI / Clobazam

   11) Valproic Acid

   12) Medical marijuana (CBD, THC, THCa)

   13) Supplements: Frankincense oil, Holy Basil

   14) Prayer (Christian, Mormon, Buddhist, non-denominational – we’ll take it all)