8/20/2019 Collaboration. Journal Entry

1/1

3/31/15 – Journal 40

I shadowed a PT today on a home visit for a 30-month-old girl with Cornelia de Lange

Syndrome. Cornelia de Lange syndrome is a developmental disorder that affects 1 in 10000 to30000 new!orns "#I$ %01%&. The syndrome is characteri'ed !y slow growth intellect(al

disa!ility that is (s(ally severe to profo(nd s)eletal a!normalities involving the arms and hands

and distinctive facial feat(res. *acial feat(res incl(de arched eye!rows that often grow togetherin the middle "synophrys&+ long eyelashes+ low-set ears+ small widely spaced teeth+ and a small

(pt(rned nose. ,any affected individ(als also have !ehavior pro!lems similar to a(tism "#I$

%01%&.dditional signs and symptoms of Cornelia de Lange syndrome can incl(de ecessive

 !ody hair "hypertrichosis& an (n(s(ally small head "microcephaly& hearing loss short stat(re

and pro!lems with the digestive tract "#I$ %01%&. Some people with Cornelia de Lange

Syndrome are !orn with a cleft palate an opening in the roof of the mo(th. Sei'(res heartdefects eye pro!lems and s)eletal a!normalities are also common in people with Cornelia de

Lange Syndrome "#I$ %01%&.

Two other practitioners from the ,/ school of the !lind were there to cond(ct a !aseline

vision and development assessment. The little girl had CI with a forward sight range of a!o(t 31% feet. She also had severe hearing loss. The girl2s family was inspiring to watch. yan the

little girl had all the traditional and most severe symptoms of Cornelia de Lange Syndrome. $ermedical needs were etensive and her medical !ills astronomical. $er father had recently

accepted a f(ll-time position in #ew 4or) City as a lawyer to help maintain medical !ills and the

family2s lifestyle. yan2s mom wor)s f(ll time as well !(t is often a!le to wor) from home.

yan2s father comm(tes from #ew 4or) to /C every wee)end to stay with his family.The PT has !een wor)ing on yan2s stamina to sit on a !ench. They have !een wor)ing

for three months now and yan can sit independently witho(t !ac) s(pport for (p to 3 min. The

PT has also !een wor)ing to teach yan f(nctional play s)ills. /(e to her limited mo!ility ands)eletal a!normalities finding toys that are appropriate for yan has !een diffic(lt. partic(lar

red and white rattle seems to ecite her the most. yan has amelia affecting her !ilateral (pperetremities at the level of the el!ow on her right and the level of the sho(lder on the left. 5hensitting at a ta!le yan will p(sh the rattle with her right forearm and loo) to the ad(lt her

initiation of a pass.

The PT has wor)ed closely with yan2s parents to develop creative ways to play andconnect with their da(ghter not only with toys !(t also thro(gh to(ch. yan2s m(scles are very

tight ma)ing it even more challenging for her to move. The PT has instr(cted the parents in

many different stretches and massage techni6(es to help loosen yan2s m(scles !(t also as a

way to connect. To(ch s)in-to-s)in contact is s(ch a powerf(l form of intimacy and connectionand something I !elieve to !e incredi!ly important for many people with disa!ilities. I watched

the PT not only g(ide and s(pport the family in interventions for yan2s development !(t I

watched her love yan thro(gh gentle and playf(l physical to(ch. She loved yan not !eca(seshe was !ea(tif(l or clever !(t !eca(se she was h(man !eca(se the lessons yan is teaching

those aro(nd her a!o(t love patience )indness and hope are more profo(nd than any lesson an

interventionist co(ld ever teach a child.