families receiving a Down syndrome diagnosis Presented by: Down - - PowerPoint PPT Presentation

Changing Lives: Relating to and supporting families receiving a Down syndrome diagnosis

Presented by: Down Syndrome Society of Wichita (DSSW)

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Introduction: What is the DSSW?

The Down Syndrome Society of Wichita (DSSW) is a not for profit 501c3 organization and a local chapter of the National Down Syndrome Society (NDSS). Our mission is to enhance the lives of individuals with Down syndrome and their families by providing them with support and resources and by raising public awareness about Down syndrome.

Goals & Objectives

 To improve awareness of

resources, locally & nationally, to support new families

 To provide a deeper

understanding of Down syndrome and what it is like to raise a child with Down syndrome.

 To provide pre-emptive

guidance on delivering a diagnosis to support a parents’ emotional needs.

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Welcome to Holland

Written by Emily Perl Kingsley

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Survey

 Have you had experience – medically or personally

with persons with Down syndrome?

 Have you ever had to deliver a diagnosis of Down

syndrome to a family?

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Education of Medical Professional Self-reporting

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Screening for Down Syndrome: Practice Patterns and Knowledge of Obstetricians and Gynecologists Cleary-Goldman, Jane; Morgan, Maria A.; Malone, Fergal D.; Robinson, Julian N.; D’Alton, Mary E.; Schulkin, Jay Obstetrics & Gynecology. 107(1):11-17, January 2006.

Significant negative correlation between years in practice and and rating of residency training 81% or medical students report they are not getting clinical training regarding individuals with Down syndrome. 58% of medical school deans say such training is not priority 45% of ACOG fellows and junior fellows rated their residency training regarding prenatal testing for fetal aneuploidy as “barely adequate or non- existent” 28% of ACOG fellows felt “well-qualified” in general prenatal genetic counseling.

• S. 1810 (110th) - Prenatally and Postnatally

Diagnosed Conditions Awareness Act

It is the purpose of this act to ---

(1) increase patient referrals to providers of key support services (2) strengthen existing networks of support (3) ensure that patients receive up-to-date, evidence-based information about the accuracy of the test.

Source: Govtrack.us. September 27, 2008 http://www.govtrack.us/congress/billtext.xpd?bill=s110-1810 Prenatally and Postnally Awareness Act - http://www.govtrack.us/congress/billtext.xpd?bill=s110- 1810

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Fact or Fiction

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Most babies with Down syndrome are born to

• lder mothers?

FICTION

Source: National Down Syndrome Society, www.ndss.org

Down syndrome

 Most commonly occurring

chromosomal condition

 1 in every 691 babies is born  More than 400,000 people

living in United States

 Life expectancy has

dramatically increased from 25 in 1983 to 60 today.

Source: National Down Syndrome Society, www.ndss.org, Date accessed August 15, 2011

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What is Down Syndrome?

 Three forms of Down syndrome: Standard Trisomy 21 (90-95%) Translocation (3-5%) Mosaicism (2-5%)

 Ave. age of diagnosis – 18 mo to 3 year  Support – International Mosasic Down Syndrome Asso.  www.IMDSA.org

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What is Down Syndrome?

• Hypotonia
• Simian Crease
• Microcephaly
• Upward slant to eyes
• Flatter nasal bridge
• Small stature
• Ears set slightly lower
• Sandal Toes

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A few common physical traits of Down syndrome:

People with Down syndrome experience cognitive delays, but the effect is usually mild to moderate. They attend school, work, function independently, and contribute to society.

Fact or Fiction

A registry exists of couples interested in adopting a child with Down syndrome.

12 FACT

Down Syndrome Association of Greater Cincinnati has a National Adoption Registry of families wishing to adopt an infant with Down syndrome

Health Supervision for Children With Down Syndrome

 American Academy of

Pediatrics

 Pediatrics Vol. 128 No.

2 August 1, 2011

• pp. 393 -406

(doi: 10.1542/peds.2011- 1605)

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Neonatal Period Considerations

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Cardiac (50%) Gastrointestinal (1-5%) Hypothyroidism Blood Disorders Respiratory Tract Infections Feeding Issues Hearing & Vision

Health Care & Development

• Critical in child

development

• Physical therapy,
• ccupational therapy, and

speech therapy

• Government programs or

private sector

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Early Intervention:

Teens and Adulthood

Full of Possibilities

 Educational Setting  Careers  Placement/Housing

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Survey:

Honest responses from those that truly understand Down syndrome

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99% Happy with lives 99% of parents love their child with DS 97% brothers/sisters (9- 11) love their sibliings

Skotko, BG, Levine SP, Goldstein R. 2011. American Journal of Medical Genetics.

Presenting the Diagnosis

Research shows that mothers retain with great accuracy the first words their physician uses when giving a diagnosis.

Source: Skotko, Brian G., P.G. Krishnani, G.T. Capone, 2009. Prenatal Diagnosis of Down Syndrome: How Best to Deliver the

• News. American Journal of Medical

Genetics.

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Diagnosis in person and with baby present if appropriate Begin with positive words; avoid negative connotations Baby First, Diagnosis Second Provide up-to-date information & resources Provide connection to parent support

Presenting the Diagnosis

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Fact or Fiction

Connecting expectant parent(s) with other parent(s) is the most helpful measure a physician can do during this first conversation.

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FACT

Source: Skotko et al. 2009

More Alike Than Different

I wish I would have known…

I wish I'd known life wouldn't be defined by the myths and misconceptions I had about Down syndrome, but instead, it would be as "normal" as normal gets, and my son would fill my life with love and joy beyond comprehension or measure. —Sandy, mom to Lucas (19 months) I wish I’d known that children with Down syndrome are just as loveable, kissable, snotty, tantrum-throwing, bubble-blowing, huggable and milestone-making as their siblings. —Ava, mom to Daniel (3 1⁄2 years)

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Parent Reactions & Questions

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Resources for Families & Physicians

 Down Syndrome Society of Wichita  National Down Syndrome Society  National Down Syndrome Congress - Physicians Guide

• Scenarios for presenting a diagnosis pre- and post-natally

 Lettercase

• digital/printed copies free for physicians

 Brighter Tomorrows

• English & Spanish

 Down Syndrome Pregnancy

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What is the DSSW?

 Frequent meetings and social events  Support and resources for new and expecting parents

and medical professionals

 Annual Social Events – Annual Family Picnic, World DS

Day Celebration (March 21st), Buddy Walk (fundraiser)

 Lending library of books related to Down syndrome

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DSSW Outreach

Referral is made to DSSW Outreach Co-Coordinators via email or phone call:

• utreach@dsswichita.org

Lisa Umbehr & Susan May Outreach volunteer makes initial contact and delivers basket with resource materials, gift, and books New family added to roster to receive DSSW mailings Follow up with new family for 6 months if desired

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Outreach Referral Process