Issue 5 - October 2012

A Message from the Director

Ask any therapist at Casa Colina Children’s Services about October and they will describe it in one of many ways: “It is a busy, busy month.” “It is filled with asking, giving and thanking.” “It is a time to see past families treated at Children’s Services.” “No rest for the weary.”

We begin October with a big breath and head to the Buddy Walk. We spend many hours putting the “Superhero Cave” together, preparing the Cupcake Walk and visiting businesses for silent auction donations in support of our Harvest Festival. We begin planning our “department skit” for the annual Casa Colina Halloween Employee BBQ. This year, October also brings with it a new fundraising event, An Evening in Casablanca. Through the efforts mentioned above, we hope to generate approximately $85,000 in October 2012 which will help subsidize the services provided by our Children’s Services staff.

We hope you, your family and friends were able to join us for the Harvest Festival, and will be joinging us for An Evening in Casablanca on October 26th to help support Casa Colina Children’s Services. For more information, visit our website: www.casacolina.org.

Cindy Sendor, MA, CCC-SLP
Director, Casa Colina Children’s Services and Speech Pathology

Therapy Corner

Waiting in the Waiting Room

Spotlight on Advocacy

Children's Champions

Resources & Links

Upcoming Events

NOVEMBER ISSUE:

Focus on Multiples

Therapy Corner

by Cindy Sendor, MA, CCC-SLP

In both the Early Start and Clinical Programs at Children's Services, many of the children we serve have genetic disorders. Some of the most common would be Down Syndrome, VCF Syndrome and Fragile X. Many other children have diagnoses that can be described as a “genetic predisposition” and still others with “syndromic” appearances that may be a result of a genetic mutation. In any of these situations, however, we find many parents confused and/or torn between cause, actions to take, and anticipated outcomes.

The September 18, 2012 edition of the ASHA Leader (a magazine for audiologists and speech/language pathologists) was dedicated to genetics. More importantly, two articles focused on what clinicians can do to support families with children who have a genetic disorder. The articles provided definitions, benefits of genetic testing and the importance of genetic counseling. Clearly any decisions should be made by each family based on their own experience, but we hope the following information may assist.

Below are some basic terms to help understand genetics, which can be kept as a reference in the event that genetic testing is pursued:

Concordance: The same disorder is expressed in two or more related individuals.

Familial aggregation: A disorder occurs more frequently than expected by chance in a given family.

Genotype: An individual's variant of a marker or gene.

Marker: Pieces of DNA whose location in the genome is known and can be used to map causal genes.

Nonsyndromic: A disorder that occurs by itself.

Penetrance: The probability that a risk gene leads to the disorder.

Phenotype: Observable trait - dyslexia, for example.

Syndromic: A disorder that occurs in the presence of other traits. For example, cardiac defects in the presence of cleft palate in velo-cardio-facial (VCF) syndrome.

According to Kathleen Arnos in the ASHA Leader “genetic testing is most efficient and cost-effective when other diagnostic information about the individual…guides the testing strategy.” If a referral is being made or a family decides to pursue genetic testing, the following information should be gathered and/or provided by healthcare personnel and caregivers:

1. A detailed family history to determine any familial traits that may be passed on.

2. A discussion of general health concerns as delayed development or recurrent health issues may be associated with a genetic disorder when considered together.

3. Early identification of at-risk children to maximize intervention as soon as possible and minimize possible delays. The presence of a risk genotype does not mean the disorder will present iteself, but intervention early on may minimize delays should the disorder present.

4. Gather educational information to assist family with making knowledgeable decisions.

5. Seek genetic counseling through the use of organizations, such as “The National Society of Genetic Counselors,” as they can identify someone with a subspecialty that will best meet a family need.

6. Be aware of the limitations of mail-order genetic testing procedures.

Recent legislation has assisted with decreasing concerns of parents that genetic testing would set up denial of service for pre-existing conditions. Beate Peter reported in the ASHA Leader “The Genetic Information Nondiscrimination Act (GINA), signed into law in 2008, prohibits denying coverage or charging higher premiums if an individual has a genetic risk for developing certain diseases in the future.”

When genetic testing is considered, genetic counseling should also be pursued. The purpose of pre-test counseling is to discuss the options, risks, benefits, and limitations of genetic testing. Post-test counseling involves a detailed explanation of the test results. The counselor assists the family with decisions related to future considerations for children, how the results can be used and support of the family while they process the information being presented.

Overall, genetic testing won’t change what a clinician may be recommending for a child, but it can provide families with some answers. If you find yourself in a quandary over genetic testing, we hope you are able to use the references presented here and in the Resources & Links section of this newsletter

Arnos, Kathleen (2012, Septemer 18). Talking to Parents About Genetics.In ASHA Leader. Retrieved from: www.asha.org.
Peter, Beate (2012, September 18). The Future of Genetics at Our Doorstep. In ASHA Leader. Retrieved from: www.asha.org.

Waiting in the Waiting Room

by Kesley Johnston

When we received my son Charlie’s diagnosis of Autism, no one told me how hard I would have to fight for him. No one told me that my life would be flipped upside down. Particularly… no one told me how much I would have to wait. I waited for his speech. I waited for him to sing. Now I wait for his behaviors to improve. I wait for fine motor skills. I wait for his prognosis as an adult. We are constantly waiting for the next milestone.

This week, I give a shout out to all of the waiting parents. You hold the fate of your children in your hands. Parents go to extreme lengths to give their children hope and a future filled with realized dreams. Parents put their careers on hold to make sure that their children receive the best care. They will even uproot themselves in order to provide their children with the best services available. Most importantly, parents love their children unconditionally, with all of their hearts, and always put them first.

These days I wait on a freeway from 6:00 a.m. – 8:00 a.m. every day to get Charlie to his preschool. I wait for six hours while Charlie receives services and treatment. Then we get on the road and wait for the traffic to take us home. I am no different than every other parent who is willing to spend their lives waiting so that their children can have the best opportunities in life. Sometimes it is exhausting. Sometimes it is taxing. Sometimes it is maddening. But we all do it…and we wouldn’t have it any other way.

So hang in there all you waiting parents. Count every blessing your waiting has given to your child. One day, we will look back on all of this waiting and say, “Wow. Look at my child now.” We will look back on our waiting and know that we were the warriors who fought the good fight and won…your children will know, too. They will look up at you with their eyes and say, “Thanks for waiting for me.” And we will say, “You were worth every moment.”

Kesley is ‘Waiting in the Waiting Room’ every month for Connections.

Spotlight on Advocacy

by Lisa Lockwood

In the September issue, we continued our study of IDEA (Individuals with Disabilities Education Act), the federal law that guarantees a free and appropriate public education (FAPE) in the least restrictive environment for every person with a disability.

IDEA has six principles that provide the framework around which special education services are designed and provided. Thus far, we have discussed the following:

June issue: First principle, Free and Appropriate Education (FAPE)

July issue: Second principle, Appropriate Education

August issue: Third principle, Individualized Education

September Issue: Fourth Principle, Least Restrictive Environment (LRE)

The fifth framework principle is Parent and Student Participation in Decision Making, and it reinforces the belief that the education of children with disabilities is made more effective by strengthening the role of parents (and students, when appropriate) in the special education process. Students must be invited to participate in IEP meetings where transition services are to be discussed. Parent involvement includes: 1) the right to equal partnership in the decision-making process, 2) the right to receive notice, 3) the right to give consent for certain activities such as evaluations, changes in placement, and release of information to others, and 4) the right to participate in all meetings concerning their child's special education.

With regard to parents in the decision-making process, the fifth framework provides for:

Input during evaluation: Parents are entitled to provide information about their child during their child's evaluation. As part of their child's IEP Team, parents are also entitled to be part of the group that reviews existing evaluation data during any evaluation or reevaluation of their child.

Eligibility: Parents are entitled to be part of the group that makes the decision regarding their child's eligibility.

Placement: Parents are entitled to be part of the group that makes the decision regarding their child's educational placement.

Reevaluation: Parents need to provide consent in order for their child to be reevaluated.

Participation in all meetings: Parents must be given the opportunity to participate in meetings with respect to the identification, evaluation, and educational placement of their child, and the provision of FAPE to their child.

Receiving progress reports and revising the IEP: Parents have the right to receive regular reports on their child's progress. The IEP would need to be revised to address any lack of expected progress toward annual goals.

Notification of the public agency by parents regarding parental placement of their child in private school: Parents must now notify the public agency if they intend to remove their child from the public school and place him or her in a private school at public expense.

Notification by parents of their intent to file a due process complaint: If parents intend to file a due process complaint, they must notify the SEA (State Educational Agencies) or the LEA (Local Educational Agencies), as the case may be.

Advisory capacities: The majority of the members of the State Advisory Panel must now be parents of children with disabilities or individuals with disabilities.

With regard to the student in the decision-making process, the fifth framework provides for an increase in participation:

Transition: Beginning at age 14 and updated annually, a statement of the transition service needs of the child under the applicable components of the child's IEP shall be written into the IEP. This statement of transition service needs must focus on the child's courses of study, such as participation in advanced placement courses or a vocational education program.

Age of majority: Public agencies must now notify students as to the rights, if any, that will transfer to them upon reaching the age of majority.

In the November issue we will look at the sixth and final principle of IDEA: Procedural Safeguards.

As always, to continue your education on your own, visit http://idea.ed.gov.

Principles of IDEA (2005-2011).In Learning Disabilities Association of America. Retrieved from http://www.ldanatl.org/aboutld/parents/special_ed/principles.asp.

Lisa explores advocacy issues of special needs parents every month for Connections.

Children's Champions: Stories of Hope and Courage

by Jamie Luzuriaga

Though the evidence had been right in front of us for the past couple of generations, it wasn’t until the birth of my son that our family discovered we carried a rare genetic disorder. In February of 2011, my son Nicholas was diagnosed with this disorder, Aarskog Syndrome.

The disorder is of X-linked inheritance, which means it is passed from mothers to their children. Aarskog is most commonly found in males; however, there are some instances in females as well. Aarskog Syndrome causes delays in physical development, intellectual development, and is usually recognizable by short stature and facial characteristics. Diagnosis is often done clinically, rather than by genetic testing, due to the low percentage rate of accurate detection of the chromosomal anomalies. The rarity of this disorder makes it difficult to find information and resources pertaining to the disease or its variations around the globe. Similarly to most families who carry the gene for Aarskog Syndrome, we are learning as we go along. Thankfully, however, the doctors, teachers, and therapists are eager to learn with us.

Every Monday and Wednesday, Nicholas and I look forward to seeing his teachers, volunteers, and classmates in Casa’s Early Start Program. It is here, in the classroom, where we often witness new milestones and accomplishments. Since Nicholas began receiving services at Casa Colina Children’s Services he has made great strides. Despite his apprehensiveness, the staff has managed to build a relationship with Nicholas, as well as with our entire family. They have thoroughly familiarized themselves with Nicholas’ disabilities and behaviors, and respond in ways that truly encourage him to discover his independence and assist him in his development.

Our journey with Nicholas’ disorder has definitely had its share of ups and downs. However, the support we have received through Casa Colina, the Aarskog Support Group, Nicholas’ doctors, family, friends, and our faith has made the voyage a less difficult one. The hard times are much less of an obstacle, and the good times are some of the most beautiful and special moments in our lives.

Jamie Luzuriaga and her son, Nicholas

For more information on Aarskog Syndrome, visit: http://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome

Resources and Links

by Sandra Zaragoza-Kaneki
Children's Hospital Los Angeles
Division of Medical Genetics
4650 Sunset Blvd., MS #90
Los Angeles, CA 90027
(323) 361-2178
Maternal Fetal Medicine Center
Loma Linda University Medical Center
11234 Anderson Street, Third Floor
Loma Linda, CA 92354
(909) 558-2682
National Organization for Rare Disorders (NORD)
P.O. Box 1968
Danbury, CT 06813
(800) 999-6673
(203) 744-0100
E-mail: RN@rarediseases.org
Regional Center - San Gabriel/Pomona
761 Corporate Drive
Pomona, CA 91768
(909)620-7722
Sandra provides helpful links and resources for the special needs community every month for Connections.
This publication is produced by Casa Colina Children's Services and the parents of the children it serves. It is intended for informational purposes only and does not constitute legal or medical advice or the endorsement of specific products or services by Casa Colina.

UPCOMING EVENTS

An Evening in Casablanca

October 26, 2012 6:30PM
Padua Hills Theatre
4467 Padua Ave, Claremont, CA 91711

Join us for the fundraising event of the season to benefit Casa Colina Children’s Services! Set against the sultry backdrop of Morocco and incorporating many themes from the beloved 1940s celluloid classic, An Evening in Casablanca is a night not to be missed! Come place your bet at the gambling tables, enjoy live entertainment and bid on fabulous auction items - including a private dinner with legendary performer Dick Van Dyke, and an exciting Las Vegas weekend getaway.

For information on sponsorship, advertising and individual tickets visit www.casacolina.org or contact Krista Struve, Director of Corporate Sponsorship and Events, at (909) 596-7733 x2223 or kstruve@casacolina.org.

SAVE THE DATE

11th Annual Trends in Autism Conference
April 6, 2013
Western University of Health Sciences, Pomona, CA

An opportunity to learn about the latest developments in the research and treatment of autism from some of the leading authorities in the field, including Margaret L. Bauman, M.D.

For more information, visit www.casacolina.org.

255 East Bonita Avenue
Pomona, CA 91767
909-596-7733

Toll-free 866/724-4127
FAX 909/593-0153
TDD-TTY-Q 909/596-3646