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San Diego Lab Helps Families Dealing With Exceedingly Rare Diseases

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Raising a child with a developmental disorder is hard. It's even harder when that disorder is so rare, most doctors have never heard of it. In this story, we'll hear ...

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kpbs kpbsevening evening edition san diego rare disease CDG scripps samford burnham doctor kid symposium freez health gene mapping Sans VSA San sans Diego VSA diego workshop chemistry laboratory research laboratory laboratory testing room testing ground classroom auditorium hall homeroom lab library study study hall theater laboratories VSA LAB advice aid benefit comfort cooperation guidance hand service support use assist avail balm corrective cure lift maintenance nourishment remedy succor sustenance utility helping hand blockage encumbrance handicap hindrance hurt injury obstruction prevention disease check counteraction harm management ownership stop worker colleague abettor auxiliary helper deputy servant assistant domestic aide helpmate mate representative partner collaborator subsidiary attendant supporter ally adjutant ancilla right-hand person boss manager opponent enemy antagonist bolster save serve encourage cooperate maintain back push further promote boost stimulate plug abet advocate befriend uphold intercede ballyhoo relieve cheer patronize accommodate second sustain sanction endorse hype puff prop buck up go to bat for be of use do a favor do a service go with lend a hand open doors root for see through stand by stick up for stump for work for oppose halt discourage depress neglect worsen decrease injure counteract disapprove ignore protest frustrate hide conceal condemn impede delay block dissuade refuse undermine prevent obstruct hinder restore ease revive treat alleviate facilitate mitigate nourish palliate attend doctor amend heal better ameliorate meliorate blame accuse increase destroy clan folk group house household people tribe ancestors ancestry birth blood brood children class descendants descent dynasty extraction forebears genealogy generations genre in-laws inheritance issue kind kindred line lineage network parentage pedigree progeny race relations relationship relatives siblings strain subdivision system heirs and assigns kith and kin menage ménage parent business commerce sale trade affairs concerns doings intercourse matters proceedings strings things traffic transactions truck balls in air irons in fire wire pulling sell handle negotiate treat barter dicker bargain swap bicker stock buy and sell hammer out deal horse trade knock down price work out deal keep hold agree refuse deny participate give drop divide render share disburse administer disperse inflict measure disseminate divvy impart strike dispense partake deliver bestow apportion partition allot reward assign dish out dole out hand out come across with fork out fork over mete out take retain join gather collect attach withhold conceal unite combine act approach behave clear concern consider control direct discuss hack it oversee play review rid serve unburden use attend to behave toward conduct oneself cope with get a handle on something have to do with live with make a go of it make it see to take care of mismanage dealing dealings economics exchange industry marketing merchandising merchantry wholesaling unemployment contraband bootlegging counterfeiting crime goods moonshine piracy plunder poaching rum-running smuggling stuff swag theft trafficking violation wetbacking distribution administration alloting allotment apportionment assessment assigning circulating circulation delivery diffusion dispensation dispersal disposal dissemination dissipating division dole handing out handling mailing propagation rationing scattering sharing spreading trading transport transportation store hoarding retention keeping maintenance hoard gathering collection juncture unity buying and selling castling change commutation conversion correspondence interchange interdependence interrelation network quid pro quo rearrangement reciprocation reciprocity replacement revision shift shuffle shuffling substitution supplantment switch tit for tat transaction transfer transposition stagnation clientele contract custom customers deal enterprise market patronage public sales misunderstanding disagreement pastime fun entertainment indolence idleness closeness communication communion connection familiarity intimacy peddling relations relationship soliciting antagonism VSA Dealing along alongside amidst among beside for including near plus upon accompanying concomitant with additionally also as companion as well at same time besides coupled with furthermore in addition to likewise moreover side by side simultaneously too far separate apart by all of by the whole of in association with in connection with in the class of in the company of mutually out of together with with one another outside away from a step from abreast of adjacent to adjoining aside at the edge of at the side of bordering on cheek by jowl close at hand close to close upon connected with contiguous to fornent in juxtaposition nearby neck and neck neighboring next door to nigh opposite overlooking round verging on at the hand of in the name of over supported by through through the agency of through the medium of under the aegis of via with the assistance of along with among other things as well as counting in conjunction with inclusive of made up of not to mention rejecting excluding W.I.T.H. VSA WITH awfully enormously excessively extraordinarily extremely highly hugely inordinately really remarkably strikingly terribly unusually vastly especially greatly immoderately in a marked degree powerful superlatively surpassingly too much vitally little a lot all all in all altogether considerably emphatically entirely exceedingly immensely incredibly infinitely intensely largely markedly notably powerfully substantially totally tremendously wholesale wholly rarely mildly insignificantly inconsiderably barely hardly badly acutely deeply gravely hard painfully roughly seriously severely morally calmly adequately lightly eminently conspicuously outstandingly prominently suitably very almighty drastically exceptionally exorbitantly mortally over overly overmuch parlous plenty prohibitively quite radically terrifically to nth degree too ultra uncommonly unduly utterly violently moderately incompletely abundantly by much famously glaringly immeasurably in great measure incalculably incomparably indeed inimitably mightily most much on a large scale supremely very much awful bloody but good decidedly jolly mighty mucho profoundly real right so much VSA extraordinary limited occasional scarce singular strange subtle uncommon unique unlikely unthinkable unusual attenuate attenuated deficient few few and far between flimsy inconceivable isolated light out of the ordinary rarefied recherché scanty scattered seldom semioccasional short sparse sporadic subtile tenuous thin unfrequent unheard of unimaginable unwonted common commonplace familiar frequent normal ordinary regular standard sufficient usual cheap typical well-done worthless great delicate rich priceless exquisite admirable choice dainty elegant extreme fine incomparable invaluable matchless peerless select superb superlative serious poor weak bloody red underdone half-cooked half-raw moderately done nearly raw not done rarely done undercooked A-1 A-OK ace attractive best ever commendable cool copacetic crackerjack deserving dream estimable excellent good greatest hunky dory keen laudable meritable meritorious neat out of sight out of this world peachy praiseworthy rare solid super super-duper superior unreal valuable wicked wonderful worthy zero cool ugly inferior bad shameful repulsive repugnant loathsome hateful detestable despicable contemptible imperfect unworthy unimportant airy diaphanous fragile frail frivolous illusory imaginary immaterial intangible vaporous visionary volatile weightless wispy heavy stuffy oppressive closed close burdensome anomalistic aberrant anomalous atypical bizarre deviant divergent irregular odd peculiar unnatural abnormal eccentric exceptional foreign heteroclite incongruous inconsistent preternatural prodigious unorthodox unrepresentative untypical conforming 24-karat elect elite exclusive first-class hand-picked nice popular precious preferential preferred prime prize solid gold special top-drawer winner sad unrefined worst choicest Rare VSA cancer bug condition contamination defect disorder epidemic fever flu illness infection inflammation malady plague sickness stroke syndrome virus ache affection attack blight breakdown canker collapse complaint contagion debility decrepitude distemper endemic feebleness fit hemorrhage indisposition infirmity misery seizure spell temperature unhealthiness unsoundness upset visitation ill health pathosis sickliness advantage good health health ability blessing boon happiness soundness strength black close dark decline dim dusk duskiness eve even eventide nightfall sundown sunset twilight early black late afternoon daybreak sunrise morning caliginosity darkness dead of night dimness evening gloom midnight murk murkiness night nighttime obscurity opacity semidarkness shade shadows witching hour understanding sense intelligence enlightening lightness illumination daytime day light brightness sensibility cognizance daylight brink evening before threshold verge vigil middle look-in appointment call holiday interview sojourn stay stop stopover talk tarriance vacation visitation weekend obscureness after dark after hours bedtime before dawn blackness dark hours dusk to dawn nighttide pitch dark VSA copy program publication release version volume impression imprint number printing reissue reprint reprinting book bible album atlas bestseller booklet brochure codex compendium dictionary dissertation edition encyclopedia essay fiction folio handbook hardcover leaflet lexicon magazine manual monograph nonfiction novel octavo offprint omnibus opus opuscule pamphlet paperback periodical portfolio preprint primer quarto reader roll scroll softcover speller text textbook thesaurus tome tract treatise vade mecum work writing books print black-and-white characters composition engraving face font impress indentation issue lettering letters lithograph newspaper newsprint photograph printed matter stamp type typeface typescript typesetting volumes Edition VSA San Diego VSA san diego Sans VSA San sans Diego VSA diego extraordinary limited occasional scarce singular strange subtle uncommon unique unlikely unthinkable unusual attenuate attenuated deficient few few and far between flimsy inconceivable isolated light out of the ordinary rarefied recherché scanty scattered seldom semioccasional short sparse sporadic subtile tenuous thin unfrequent unheard of unimaginable unwonted common commonplace familiar frequent normal ordinary regular standard sufficient usual cheap typical well-done worthless great delicate rich priceless exquisite admirable choice dainty elegant extreme fine incomparable invaluable matchless peerless select superb superlative serious poor weak bloody red underdone half-cooked half-raw moderately done nearly raw not done rarely done undercooked A-1 A-OK ace attractive best ever commendable cool copacetic crackerjack deserving dream estimable excellent good greatest hunky dory keen laudable meritable meritorious neat out of sight out of this world peachy praiseworthy rare solid super super-duper superior unreal valuable wicked wonderful worthy zero cool ugly inferior bad shameful repulsive repugnant loathsome hateful detestable despicable contemptible imperfect unworthy unimportant airy diaphanous fragile frail frivolous illusory imaginary immaterial intangible vaporous visionary volatile weightless wispy heavy stuffy oppressive closed close burdensome anomalistic aberrant anomalous atypical bizarre deviant divergent irregular odd peculiar unnatural abnormal eccentric exceptional foreign heteroclite incongruous inconsistent preternatural prodigious unorthodox unrepresentative untypical conforming 24-karat elect elite exclusive first-class hand-picked nice popular precious preferential preferred prime prize solid gold special top-drawer winner sad unrefined worst choicest Rare VSA cancer bug condition contamination defect disorder epidemic fever flu illness infection inflammation malady plague sickness stroke syndrome virus ache affection attack blight breakdown canker collapse complaint contagion debility decrepitude distemper endemic feebleness fit hemorrhage indisposition infirmity misery seizure spell temperature unhealthiness unsoundness upset visitation ill health pathosis sickliness advantage good health health ability blessing boon happiness soundness strength affliction adversity anguish calamity cross crux depression difficulty disease distress grief hardship misfortune ordeal pain plight scourge sorrow suffering torment trial tribulation trouble woe help peace good fortune benefit pleasure cheer comfort well-being relief consolation aid encouragement contentment calm good luck delight profit joy ailment dose ailments access bout convulsion failure paroxysm relapse spasm throe support retreat flight defense submission reprisal sustenance surrender shield shelter resistance protection attacks bacillus germ microbe VSA Disease DISEASE CDG VSA C.D.G Scripps VSA Samford VSA Sam Ford Burnham VSA burnham expert physician professor scientist specialist surgeon bones doc healer intern medic medico quack general practitioner medical person patient reconstruct medicate revamp repair overhaul attend supply fix administer recondition mend rebuild do up patch up apply medication give treatment neglect hurt break purify clean injure harm ignore ruin destroy add to alter misrepresent fudge falsify load cut debase weight gloss sophisticate deacon disguise dilute spike change water down tamper with dope up mix with reveal adjust accord allocate arrange clarify conclude conform coordinate doctor fiddle with fine-tune fix up grade methodize modify organize reconcile regulate settle sort standardize straighten systematize tally unfit upset move disagree confuse mismatch differ derange unsettle disarrange refuse mix up disorganize disorder adjusted adjusting adjusts adulterate alloy amalgamate attenuate blend cheapen commingle contaminate cook corrupt defile degrade denature depreciate deteriorate devalue dissolve doctor up impair infiltrate intermix irrigate lace make impure mingle mix phony up plant pollute shave taint thin transfuse vitiate weaken refine free approve raise help separate divide strengthen concentrate filter distill upgrade increase assist aid improve cleanse thicken honor adviser\u002Fadvisor Dutch uncle aide attorney authority backseat driver buttinski clubhouse lawyer coach confidant consultant counsel counselor director friend guide helper instructor judge kibitzer lawyer mentor monitor partner priest quarterback referee righthand person second-guesser teacher tutor Doctor VSA baby boy child daughter girl infant son teenager youngster youth bairn juvenile lad lass tot little one adult joke bother tease pretend delude flimflam rag razz jest jape hoax josh banter cozen gull jolly dupe trick beguile bamboozle roast fun spoof hoodwink rib mock make fun of make sport of babies angelface babe bambino bundle buttercup button cherub chick crawler deduction dividend dumpling kid little angel little darling little doll newborn nipper nursling papoose preemie suckling tad toddler write-off adolescent moppet squirt tyke young child chaff deride fool jeer jive ridicule satirize taunt flatter praise bantering brat devil enfant terrible holy terror impudent child jackanapes punk rascal unruly child urchin whippersnapper wild one angel Kids VSA Kid kids convention discussion forum meeting panel discussion Round Table seminar colloquium gabfest huddle parley powwow talk discussion group rap session symposium conference appointment argument chat colloquy confabulation conferring congress consultation conversation convocation deliberation groupthink interchange interview palaver round robin think-in ventilation quiet silence conferences altercation analysis argumentation canvass consideration contention controversy debate dialogue discourse disputation dispute dissertation examination exchange excursus meet quarrel review scrutiny wrangling peace harmony agreement discussions fora assembly conclave congregation council gathering get-together rally VSA freez VSA energy fitness strength well-being bloom complexion constitution euphoria fettle form haleness hardihood hardiness healthfulness healthiness lustiness pink prime robustness salubriousness salubrity shape soundness stamina state tone tonicity verdure vigor wholeness clean bill eupepsia fine feather good condition top form lethargy weakness disease illness infirmity sickness condition appearance aspect build health kilter mint order phase repair status trim bliss dreamland ecstasy elation exaltation exhilaration exultation frenzy glee high spirits intoxication joy joyousness jubilation madness rapture relaxation transport misery depression discouragement unhappiness woe despair dislike sorrow sadness good health poor health unsuitability inappropriateness enervation anatomy being figure frame object outline person phenomenon physique silhouette thing torso disorganization disarrangement forms luck advantage big break blessing break fluke fortunateness godsend good luck happiness in the cards karma kismet luckiness lucky break occasion opportunity profit prosperity run of luck serendipity smile streak of luck stroke success triumph victory weal wealth win windfall bad fortune failure misfortune disadvantage bad luck poverty loss forfeit VSA Health HEALTH RNA chromosome heredity genetic code nucleic acid DNA gene Gene VSA aligning averaging calculating calibrating checking gauging grading leveling rhyming scaling surveying measuring planning drawing projecting designing tracing drafting girdling bounding delineating charting depicting diagramming plotting drawing up outlining chart outline arrange diagram display exhibit map set out spread out neglect save hoard lay out plot organize form project design draft work out represent sketch formulate devise frame contrive conspire invent shape ready engineer concoct calculate hatch scheme brainstorm blueprint trace contemplate meditate craft intrigue steer bargain for block out cook up quarterback figure on figure out fix to lay in provisions line up make arrangements reckon on rough in forget ignore disorganize disorder disarrange destroy plan depict delineate show reproduce record duplicate copy mark out run away develop prepare codify forge draw up define originate evolve work systematize particularize express detail couch vamp compose indite put phrase coin make dream up make up give form to set down stop halt ruin raze mapping VSA Mapping
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