# GUERRA, RIGOBERTO Jr. > Texas Supreme Court · October 26, 2015 URL: https://www.frixlaw.com/law-library/cases/4057192 ## Case - **Court:** Texas Supreme Court - **Decided:** October 26, 2015 - **Precedential status:** Published - **Opinion:** Opinion - **Cited by:** 0 later opinions in the Frix Law Library ## Citator (automated) - No negative treatment found by the automated citator. That is not the same as a confirmation that the case is good law; read the citing cases. - Full citator and citing cases: https://www.frixlaw.com/law-library/cases/4057192 ## How later opinions describe it (automated extraction) - noting that difference between situations •• addressed by Strickland and Cronic is "not of degree but of kind." ## Opinion text A\ttmrne·'ys at La\W Chase . Bank Of Te~as . - Gulfgate -2900 Woodridge, Suite 202 Houston, Texas 77087 (713) 645-7894 (713) 645-7777 Facsimile RALPH R. MARTINEZ LAURA S. MARTINEZ Board Certified in Criminal Law Member of the College of the Board Certified in Criminal Appellant State Bar of Texas Texas Board of Legal Specialization October 24, 2015 Kelley Reyes Chief Deputy Clerk Court of Criminal Appeals Via FedEx: 8659 0826 1929 Supreme Court Building 201 West 14th Street, Room 106 Austin, Texas 78701 Re: Prince Thomas-Harris; WR-83;896-01 Rigoberto Guerrero; WR-83,899..:01 Dear Ms. Reyes: Enclosed please firid a courtesy copy of the above ·mentioned Petitioners. In regards to Rigoberto Guerrero, I filed a prior 11.07 Writ on his behalf; however, that. Writ was subsequently dismissed and has been refiled. This Petition was dismissed for non compliance with Tex. App. Rule 73.l(f) (word count certificate). I anticipate the same problem with Prince Thomas-Harris and my courtesy copy does comply with Tex R. App. Proc. 73.1(£). Hopefully, this will avert a·dismissal. As per our discussion on 10/14/15, I hope that my clients' Petitions can be considered by the Court now that I am in compliance with Rule 73.1(£). I appreciate your help and courtesy. Thank you. RECEIVED IN - COURT OF CRIMINAL APPEALS Sincerely, OCT 26 2015 Abel Acosta. Clerk . RRM/ra --~----· •• •• •• IN THE COURT OF CRIMINAL APPEALS OF TEXAS •• •• •• APPLICATION FOR WRIT OF HABEAS CORPUS SEEKING RELIEF FROM FINAL FELONY CONVICTION •• UNDER CODE OF CRIMINAL PROCEDURE, ARTICLE 11.07 •• PETITIONER RIGOBERTO GUERRERO JR . TDCJ-CID NUMBER 01742548 •• ELLIS UNIT TEXAS DEPARTMENT OF CRIMINAL JUSTICE •• HUNTSVILLE, TEXAS •• •• PROCEEDINGS BELOW: •• Direct Appeal: No. 05-1101298-CR Fifth District Court of Appeals •• Trial Court: Dallas, Texas Cause No. 059446 •• 15th Judicial District Court Grayson County, Texas •• •• REPRESENTED BY: RALPH E.. MARTINEZ TBA: 13143600 •• 2900 Woodridge, Suite 202 Houston, Texas 77087 •• 713-645-7894 713-645-777-Fax •• •• •• •• •• IN THE COURT OF CRIMINAL APPEALS OF TEXAS •• •• •• APPLICATION FOR WRIT OF HABEAS CORPUS SEEKING RELIEF FROM FINAL FELONY CONVICTION •• UNDER CODE OF CRIMINAL PROCEDURE, ARTICLE 11.07 •• PETITIONER RIGOBERTO GUERRERO JR . •• TDCJ-CID NUMBER 01742548 ELLIS UNIT TEXAS DEPARTMENT OF •• CRIMINAL JUSTICE HUNTSVILLE, TEXAS •• •• PROCEEDINGS BELOW: •• Direct Appeal: No. 05-1101298-CR Fifth District Court of Appeals •• Trial Court: Dallas, Texas Cause No. 059446 •• 15th Judicial District Court Grayson County, Texas •• •• REPRESENTED BY: RALPH R. MARTINEZ TBA: 13143600 •• 2900 Woodridge, Suite 202 Houston, Texas 77087 •• 713-645-7894 713-645-777-Fax •• •• • •• •• COURT OF CRIMINAL APPEALS OF TEXAS •• APPLICATION FOR A WRIT OF HABEAS CORPUS SEEKING RELIEF FROM FINAL FELONY CONVICTION UNDER CODE OF CRIMINAL PROCEDURE, ARTICLE 11.07 •• INSTRUCTIONS •• 1. You must use the complete form, which begins on the following page, to me an application for a writ of habeas corpus seeking relief from a rmal felony conviction •• under Article 11.07 of the Code of Criminal Procedure. (This form is not for death- penalty cases, probated sentences which have not been revoked, or misdemeanors.) •• 2. The. district.clerkofthe county in .which .you were convicted will make this form available to you, on request, without charge• •• 3. You must me the entire writ application form, including those sections that do not apply to you. If any pages are missing from the form, or if the questions have been •• 4. renumbered or omitted, your entire application may be dismissed as non-compliant. You must make a separate application on a separate form for each judgment of •• conviction you seek relief from. Even if the judgments were entered in the same court on the same day, you must make a separate application for each one• •• 5. Answer every item that applies to you on the form. Do not attach any additional pages for any item. •• 6. You must include all grounds for relief on the application form as provided by the •• instructions under item 17. You must also briefly summarize the facts of your claim on the application form as provided by the instructions under item 17. Each ground shall begin on a new page, and the recitation of the facts supporting the ground shall •• 7. be no longer than the two pages provided for the claim in the form • Legal citations and arguments may be made in a separate memorandum that •• complies with Texas Rule of Appellate Procedure 73 and does not exceed 15,000 words if computer-generated or 50 pages if not. •• 8. You must verify the application by signing either the Oath Before Notary Public or the Inmate's Declaration, which are at the end of this form on pages 11 and 12. You •• may be prosecuted and convicted for aggravated perjury if you make any false statement of a material fact in this application. •• 9. When the application is fully completed, mail the original to the district clerk of the county of conviction. Keep a copy of the application for your records• •• 10. ·You must notify the district clerk of the county of conviction of any change in address after you have med your application . •• •• • •• •• Case No . - - - - - - •• (The Clerk of the convicting court will fill this line in.) •• IN THE COURT OF CRIMINAL APPEALS OF TEXAS •• APPLICATION FOR A WRIT OF HABEAS CORPUS SEEKING RELIEF FROM FINAL FELONY CONVICTION UNDER CODE OF CRIMINAL PROCEDURE, ARTICLE 11.07 •• •• NAME: DATEOFBIRTH: Rigoberto Guerrero Jr. -·~A=ug=u=st~1~4~,~19~8~0______________________________________ •• PLACE OF CONFINEMENT: I!is~U...... __._E..... ni.._t- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - •• TDCJ-CID NUMBER: _0_1_74_2_5_48--:------ SID NUMBER: ______0_63_9_6_24_4_____ •• (1) This application concerns (check all that apply): •• ~ ~ a conviction a sentence 0 0 parole mandatory supervision •• 0 time credit 0 out-of-time appeal or petition for •• discretionary review •• (2) What district court entered the judgment of the conviction you want relief from? (Include the court number and county.) •• 15th Judicial District Court of Grayson County, Texas •• (3) What was the case number in the trial court? •• 059446 •• (4) What was the name of the trial judge? •• Honorable Jim Fallon •• •• Effective: January 1, 2014 1 • •• •• (5) Were you represented by counsel? If yes, provide the attorney's name: •• Jack Louis McGowen •• (6) What was the date that the judgment was entered? •• •• September 14, 2011 •• (7) For what offense were you convicted and what was the sentence? •• Injuty to a child. Fifty years and Ten Thousand Dollar Fine •• (8) If you were sentenced on more than one count of an indictment in the same court at the same time, what counts were you convicted of and what was the sentence in each count? •• N/A •• •• (9) What was the plea you entered? (Check one.) •• 0 guilty-open plea IX not guilty 0 guilty-plea bargain 0 nolo contendere/no contest •• If you entered different pleas to counts in a multi-count indictment, please explain: •• •• •• (10) What kind of trial did you have? 0 no jury ~jury for guilt and punishment •• 0 jury for guilt, judge for punishment •• •• •• 2 • •• •• (11) Did you testify at trial? If yes, at what phase of the trial did you testify? •• Guilt Innocence phase and Sentencing Phase •• (12) Did you appeal from the judgment of conviction? •• Dt yes D no •• If you did appeal, answer the following questions: •• (A) What court of appeals did you appeal to? _fifth Supreme Judicial District of Texas •• (B) What was the case number? No 05-11-01298-CR (C) Were you represented by counsel on appeal? If yes, provide the attorney's •• name: Jason Butscher •• (D) What was the decision and the date of the decision? Affirmed •• (13) Did you file a petition for discretionary review in the Court of Criminal Appeals? •• D yes ~ no If you did file a petition for discretionary review, answer the following questions: •• (A) What was the case number? •• (B) What was the decision and the date of the decision? •• (14) Have you previously filed an application for a writ of habeas corpus under Article •• 11.07 of the Texas Code of Criminal Procedure challenging this conviction? Dyes 00 no •• If you answered yes, answer the following questions: •• (A) What was the Court of Criminal Appeals' writ number? •• •- •• 3 • •• •• •• (B) What was the decision and the date of the decision? (C) Please identify the reason that the current claims were not presented and could •• not have been presented on your previous application . •• •• •• •• ~ • (15) Do you currently have any petition or appeal pending in any other state or federal court? •• Dyes ~no •• If you answered yes, please provide the name of the court and the case number: •• •• (16) If you are presenting a claim for time credit, have you exhausted your administrative remedies by presenting your claim to the time credit resolution system of the Texas Department of Criminal Justice? (This requirement applies to •• any f"mal felony conviction, including state jail felonies) •• Dyes D no If you answered yes, answer the following questions: •• (A) What date did you present the claim? •• (B) Did you receive a decision and, if yes, what was the date of the decision? •• •• If you answered no, please explain why you have not submitted your claim: •• •• 4 • •• •• •• •• •• •• •• •• (17) Beginning on page 6, state concisely every legal ground for your claim that you are •• being unlawfully restrained, and then briefly summarize the facts supporting each ground. You must present each ground on the form application and a brief •• summary of the facts. Ifyour grounds and brief summary ofthefacts have not been presented on the form application, the Court will not consider your grounds• If you have more than four grounds, use pages 14 and 15 ofthe form, which you •• may copy as many times as needed to give you a separate page for each ground, with each ground numbered in sequence. The recitation of the facts supporting each •• ground must be no longer than the two pages provided for the ground in the form• You may include with the form a memorandum of law if you want to present legal •• authorities, but the Court will not consider grounds for relief set out in a memorandum of law that were not raised on the form. The citations and argument must be in a memorandum that complies with Texas Rule of Appellate Procedure 73 •• and does not exceed 15,000 words if computer-generated or 50 pages if not. If you are challenging the validity of your conviction, please include a summary of the facts •• pertaining to your offense and trial in your memorandum. •• •• ~ •• •• •- 5 •• •• •• •• GROUND ONE: Denial ofEffectiye Assistance ofCmmsel •• •• FACTS SUPPORTING GROUND ONE: •• Trial counsel was ineffective for not requesting the Court to appoint an expert medica) witness or •• consuJtant or to rise fimds to hire said eXpert to assist ¢ouris¢1 in cross examina:tjob of State lnedjcaJ •• experts or testify as medical experts at tria] given the existence of a medical condition in complainant •• that may have caused the injuries ascribed to defendant's actions . •• •• •• •• •• •• •• •• •• •• •• •• 6 • •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• 7 • •• •• •• GROUND TWO: Whether the prosecutor's remarks comparing Applicant to "Casey Anthony" •• violated Applicants Due Course of Law Rights under Tex. Const. Art. I.§ 10 and the Fifth and Fourteenth Amendments of the United States Constitution . •• FACTS SUPPORTING GROUND TWO: •• During the prosecutors closing argument he compared Applicant to •• "Casey Anthony" a notorious and publicized criminal case of child a.buse . •• No record of this comment or objection exists but witness affidavits •• attached as exhibits attest to its occurrence .. •• •• •• •• •• •• •• •• •• •• •• ~ • 8 ~ •• , .•• , ~• \ ..• •.• , , .•• •• •• •• , .•• •• •• •• •• •• •• •• •• •• 9 • • ••-·•• -·•• • GROUND THREE: •• Trial counsel was ineffective in representing Petitioner by not properly objecting to and insuring that both the objection and •• prosecutor's closing argument comparing Petitioner to "Casey Anthony" was not recorded . •• FACTS SUPPORTING GROUND THREE: The prosecutor in this case argued his closing argument that Petitioner was comparable to "Casey •• Anthony," an infamous and alleged child abuser who-se case was prominent in the media during •• Petitioner's trial. This argument is attested to by several witnesses including in Exhibit "A" of this •• Petition. The trial counsel did not properly object to or ensure the statement was recorded . •• •• •• •• •• •• •• •• •• •• •• 10 •• • ••• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• 11 •· •• •• •• GROUND FOUR: Appellate counsel did not object to the exclusion of the prosecutor's closing argument to "Casey Anthony" pursuant to •• Tex.R.App. P. 34.5(b)(l) or request the record be supplemented pursuant to Tex. R. App. P. 34(L)(l ). •• FACTS SUPPORTING GROUND FOUR: •• The prosecutor in this case argued his closing argument that Petitioner was comparable to "Casey •• Anthony," ail infamous and alleged child abuser whose case was prominent in the media during •• Petitioner's trial. This argument is attested to by several witnesses including in Exhibit "A" of this •• Petition. The trial counsel did not properly object to or ensure the statement was recorded . •• •• •• •• •• •• •• •• •• •• •• 12 ••.. -------------------------------------------------------------- •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• • ~ •• ~· 13 •• •• •• GROUND: •• •• FACTS SUPPORTING GROUND: •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• •• 14 • ;. '':l.. ..l. ) ~· ~· ',.,. .•••• ~· ' ••• •• •• •• •• •• •• •• •• •• •• •• •• •• •• 15 • •• •• •• WHEREFORE, APPLICANT PRAYS THAT THE COURT GRANT APPLICANT RELIEF TO WHICH HE MAY BE ENTITLED IN TillS PROCEEDING. •• VERIFICATION •• This application must be verified or it will be dismissed for non-compliance. For verification purposes, an applicant is a person filing the application on his or her own behalf. A petitioner is a person filing the application on behalf of an applicant, for example, an applicant's •• attorney. An inmate is a person who is in custody. The inmate applicant must sign either the "Oath Before a Notary Public" before a •• notary public or the '-'Inmate's-Declaration" without a notary public.-- If the inmate is-represented by a licensed attorney, the attorney may sign the "Oath Before a Notary Public" as petitioner and •• then complete "Petitioner's Information." A non-inmate applicant must sign the "Oath Before a Notary Public" before a notary public unless he is represented by a licensed attorney, in which case the attorney may sign the verification as petitioner. •• A non-inmate non-attorney petitioner must sign the "Oath Before a Notary Public" ••• before a notary public and must also complete "Petitioner's Information." An inmate petitioner must sign either the "Oath Before a Notary Public" before a notary public or the "Inmate's Declaration" without a notary public and must also complete the appropriate "Petitioner's Information." •• OATH BEFORE A NOTARY PUBLIC •• STATE OF TEXAS COUNTY OF ___________ •• - - - - - - - - - - - - - - ' b e i n g duly sworn, under oath says: "I am •• the applicant I petitioner (circle one) in this action and know the contents of the above application for a writ of habeas corpus and, according to my belief, the facts stated in the application are true." •• Signature of Applicant I Petitioner (circle one) •• •• SUBSCRIBED AND SWORN TO BEFORE ME THIS DAY OF _____, 20_ _. •• Signature ofNotaiy Public •• •• 16 •• ,.. ••,. , PETITIONER'S INFORMATION ••• ••';. Petitioner's printed name: Ralph R. Martinez (Representing Applicant Rigoberto Guerrero, Jr.) State bar number, if applicable: -.~l-.;~.3..1.'14*-'3LU6..,..00~-------- ••• ••• Address: 2900 Woodridge Suite 202 ••• Houston Texas 77087 •• •• Telephone: Fax: 713-645-7894 •• 713-645-7777 •• INMATE'S DECLARATION f,j ,br- ~1o {_,J.AV'JWJ V •• I, , am the applicantletion t/111 V1 J D (" 3- C I j) (circle one) and , declare under penalty of •• being presently incarcerated in 1 perjury that, according to my belief, the facts stated in the above application are true and correct. •• Signed on .H.~ y .Jkr, / Z Genetics & Metabolism •• Personalized medicine, prenatal counsel Dysmorphology, birth defects Development delays, mental disability Prenatal counseling Growth, obesity, ADHD, behavior issues Dallas: Phone 972-566-2500 Plano: Phone 972-312-0440 ••GoaW1lson MD, PhD Certified in Pediatrics & Medical Genetics Information/questions: Phone: 214-797-0031 Medical City Hospital Suite 8311 7777 Forest Lane Dallas TX 75230 Miranda Ramirez Pediatrics 3608 Preston Rd, Suite 125 Plano TX 75093 •• cc: Email: TheGgnome@aol.com Fax 972-566-2505 Fax 469-467-9343 More information: www.kinderGgnome.biz ••Ralph Martinez Attny 29000 Woodridge Ste 202 Rigoberto, Raquel Guerrero 1212 S Hazelwood St •• Houston TX 77087 Sherman TX 75090 •• • •• •• •• •• ~ Pediatric Genetics •• March 18,2014 Dr. Malgorzata Gajda Hilltop Pediatrics •• 300 N Highland Ave Suite 542 Shennan, TX 75092 ••• Dear Dr. Gajda: .RE: ..Lucas Guerrero" .. .f3.D: 9.::.f!-.,.1.995L,.. •• Thank you for referring Lucas Guerrero who I saw again on March 17, 2014 in our Medical City office for outpatient genetic consultation. Lucas is 14 years old and came in with his grandmother for discussion of genetic testing. My overall impression was that Lucas has a moderate form ofEhlers-Danlos syndrome (EDS) type I •• characterized by tall stature, hypermobility, arthralgia, and some symptoms of paroxysmal orthostatic tachycardia syndrome (POTS). I had inquired of the GeneDx company what the family self-pay would be for exome sequencing that examines all23,000 human genes, and they responded that the family would have •• minimal out-of-pocket costs. I will now resend their new insurance information to confirm full insurance coverage, and we will try to arrange the exome test for Lucas, his mother in Flower Mound, and his father who is incarcerated in Tennessee Colony Texas. I will send a follow-up letter when we have the out-of-pocket •• estimates with potential blood draw mechanisms for the parents . PAST MEDICAL IDSTORY: I had previously documented the history of several infantile fractures which •• resulted in placement with his grandmother since age 1 year. He had some development delays with need for ECI that may have reflected healing from fractures since he has done well in school until recently. He had some physical therapy at age 8-9 years and he has had normal language. Symptoms such as joint popping, arthralgias, fractures in •• his L foot, and stomach issues suggestive of IBS suggest the diagnosis ofEDS, and some urologic issues along with dry eyes have suggested POTS along with dizziness on standing, hypotension, enjoyment of salty foods, occasional fatigue and "brain fog," the latter possibly accounting for some school difficulties. He was told that he has collapsed •• arch~s in his feet. FAMILY IDSTORY: The previously documented family history indicates that Lucas has half-brothers Jacob and •• Matthew, the latter with early fractures that in 2009 resulted in his father having criminal charges of child abuse with incarceration. Grandmother (mother of the three boys' father), does not have contact with these other grandchildren, but thinks that Jacob may have had an arm fracture. Grandmother is a nurse working in dialysis and •• has had several symptoms ofEDS-joint pains with flexibility, migraines, menorrhagia, and endometriosis. She has another son in addition to Lucas' father with joint issues and a daughter who has a son, age 9, with flexibility, asthma, and eczema. •• PHYSICAL EXAMINATION: Lucas was 6-2 'l'2(90th centile for age) and weighed 163 lbs (50th centile for age) with a head circumference of22.5 inches (901h centile for age). He continues to grow rapidly (6-1 at his last visit) and has a slender, fit build that will help prevent wear-and-tear joint injury. •• H EENT: Normal hair pattern and texture with normal head shape; normal facial appearance with no subtle anomalies of the eyes, ears, or jaw.. Back: Mild dextroscoliosis in thoracolumbar region with angle of about 5 degrees. •• Extremities: Normal proportions with normal palmar creases. I previously documented moderately increased joint laxity with Beighton hypermobility scale of 5-6/9). He has long fingers and the thumb-little finger overlap around wrist (Walker-Murdoch) and thumb through fist (Hoffinan) signs were positive. •• Skin: Soft texture with hyperelasticity sufficient to give a 1 inch fold on his forearm . Neuro: No focal neurologic deficits. He is very interactive and conversational with obvious normal intelligence. He has good coordination and balance as judged by tandem walk •• • •• •• RE: Lucas Guerrero BD: 9-4-1999 •• IMPRESSION: My impression remains that Lucas has a moderate form ofEhlers-Danlos syndrome (EDS) type I with evidence for skeletal, gastrointestinal and vascular changes. I cannot exclude a form ofMarfan syndrome although he has not yet had any aortic or cardiac changes, but the type IV EDS syndrome is unlikely since he does •• not have a pinched lower face or translucent skin . RECOMMENDATIONS: I will recontact the GeneDx company to ascertain what the self-pay costs would be for •• exome sequencing (list price fo $9000) based on their new insurance. If covered, we can arrange blood draws for Lucas and his parents, and have urged his grandmother to contact me (email best) with new questions or concerns . .~,,~ •• Genetics & Metabolism Dysmorphology, birth defects Prenatal counseling Personalized medicine, prenatal counsel Development delays, mental disability Growth, obesity, ADHD, behavior issues . • .___ ,. .... ~- .Dallas:J?hone,9.Z2c:566.:25Q.O.~.,,"' .......J?,l;3QO:~Rh •• Medical City Hospital Suite 8311 Certified in Pediatrics & Medical Genetics 7777 Forest Lane Information/questions: Phone: 214-797-0031 Dallas TX 75230 •• Email: TheGgnome@aol.com Fax 972-566-2505 More information: www.kinderGgnome.biz cc: •• Ralph Martinez Attny 29000 Woodridge Ste 202 Houston TX 77087 Rigoberto, Raquel Guerrero 1212 S Hazelwood St Sherman TX 75090 •• •• •• •• •• •• •• •• •• •• •• •• •••• •• ••• ••• •• ~ Pediatric Genetics December 12,2013 ·-•• Dr. Malgorzata Gajda Hilltop Pediatrics 300 N Highland Ave Suite 542 Sherman, TX 75092 ··~----·-·-··-~,--~-· "~--- --·---··-·---~-=···": ··-- ........ ~-··-· • Dear Dr. Gajda: •• Thank you for referring Lucas Guerrero who I saw on December 12, 2013 in our Plano office for outpatient genetic consultation. Lucas is 14 years old and came in with his grandmother for evaluation of a possible connective tissue dysplasia. My overall impression is that Lucas has a moderate form ofEhlers- •• Danlos syndrome (EDS) type I characterized by hypermobility, arthralgia, and some symptoms of paroxysmal orthostatic tachycardia syndrome (POTS). I will inquire of the Gene Ox company what the family self-pay would be for exome sequencing that examines all 23,000 human genes and has the •• best chance to define a mutation in one ofthe >100 genes implicated in connective tissue dysplasias or dysautonomia. I will let the family know in a week and we can arrange blood draws on Lucas and his parents if it is feasible to proceed . •• PAST MEDICAL IDSTORY: Lucas was a premature baby after a 34-week gestation and had transient jaundice and hypoglycemia. He was bottle-fed with some early feeding difficulties and there was a question •• of tears in the cornea at one point. At age 2 months he was removed from parental custody after an arm fracture and others in multiple stages of healing were found-apparently vitamin D deficiency was also questioned. His grandmother acquired custody at age 1 year and relates a history of hypotonia with motor •• delay-he did not walk until age 18 months and he was in ECL However, the delays may have reflected healing from fractures in that he has done well in school until recently, troubled more by lack of effort than cognitive concerns according to his grandmother. He had some muscle weakness that needed physical •• t}:lerapy at age 8-9 years and he has had nonnall~nguage . His muscle weakness may have reflected limitation from joint pain as he has popping joints and arthralgias, •• particularly in his shoulders. He has been in a boot twice for stress fractures in his L foot. His most severe symptoms are likely due to ms with severe stomach issues at ages 4-5 years after GE reflux as a baby. He has chronic constipation and Dr. Russo performed a normal endoscopy and biopsy. Also potentially related to dysautonomia are urology issues with need for stents in his ureters and an episode of urosepsis. He also •• has had significant vision issues with dry eyes and poor vision evaluated at age 6-7 years. He was found to have vitamin A deficiency and now takes 25,000 units per day, also having other fat-soluble vitamin deficiencies such as vitamin K that could reflect bowel malabsorption-he is seeing Dr. Hutchinson of •• endocrinology and Dr. Russo of Gl for these issues. He also has symptoms of POTS with an episode of severe shortness of breath and saw Dr. Zellers of cardiology with monitoring for arrhythmia that was apparently negative. He has dizziness on standing, hypotension, enjoyment of salty foods, occasional •• fatigue and "brain fog," the latter possibly accounting for some school difficulties. He has not had striae or unusual scars and does not note TMJ pain or popping, obvious scoliosis or pectus. He was told that he has collapsed arches in his feet. •• FAMILY IDSTORY: Family history indicates that Lucas has half-brothers Jacob and Matthew, the latter with early fractures that in 2009 resulted in his father having criminal charges of child abuse with •• incarceration. Grandmother (mother of the three boys' father), does not have contact with these other grandchildren, but thinks that Jacob may have bad an arm fracture. Grandmother is a nurse working in dialysis and has had several symptoms ofEDS-joint pains with flexibility, migraines, menorrhagia, and •• •• •• •• RE: Lucas Guerrero BD: 9-4-1999 •• endometriosi& ~he has another son in addition to Lucas' father with joint issues and a daughter who has a •• son, age 9, with flexibility, asthma, and eczema. Otherwise, there are no individuals known to have developmental disability, birth defects, or early onset cancers on either side of the family . PHYSICAL EXAMINATION: Lucas was 6-1 and weighted 156lbs with a slender, fit build. •• HEENT: Normal hair pattern and texture with normal head shape; normal facial appearance with no subtle anomalies of the eyes, ears, or jaw.. Neck and chest: No webbing or sinuses; mild pectus excavatum •• Heart: No murmurs--regular rate and rhythm Back: Mild dextroscoliosis in thoracolumbar region with angle of about 5 degrees . Extremities: Normal proportions with normal palmar creases. Moderately increased joint laxity with •• Beighton hypermobility scale of 5-6/9). He has long fingers and the thumb-little finger overlap around wrist (Walker-Murdoch) and thumb through fist (Hoffman) signs were positive . · Skin:··so1l'feXfufe"with hyperelifstieity'Slifficientto'give·a·l inch fold on"his·forearm:~"· ·"·"···· -· -···· -· --· • · · - ~-·-" · ·--· •• Neuro: No focal neurologic deficits. He is very interactive and conversational with obvious normal intelligence. He has good coordination and balance as judged by tandem walk •• IMPRESSION: My impression is that Lucas has a moderate form ofEhlers-Danlos syndrome (EDS) type I with evidence for skeletal, gastrointestinal, and vascular changes. The latter have manifest mainly as POTS and gastroparesis/irritable bowel syndrome, and I do not see evidence for the Chiari malformation •• that is more common in EDS. I also cannot exclude a form of Marfan syndrome although he has not yet had any aortic or cardiac changes, but the type IV EDS syndrome is unlikely since he does not have a pinched lower face or translucent skin . •• RECOMMENDATIONS: I attach information on the EDS spectrum and would suggest return to cardiology if Lucas has more severe POTS symptoms, especially if they interfere with school. Drs. Lee •• Ann Pearse of pediatric cardiology and Dr. Amer Suleman of adult cardiology are very familiar with POTS. Otherwise, Lucas should follow the joint protection and nutrition approaches outlined in the information, and I am inquiring of the GeneDx company what the self-pay costs would be for exome •• sequencing (list price fo $9000 but often covered or discounted through insurance). I have urged his grandmother to contact me (email best) with new questions or concerns. Sine~ y yours •• Genetics & Metabolism Personalized medicine, prenatal counsel \ Oysmorphology, birth defects Development delays, mental disability Prenatal counseling Growth, ob(!sity, ,II.DHD, behav_ior issues Dallas: Phone 972-566-2500 Plano: Phone 972-312-0440 •• Golder N. Wilson MD, PhD Certified in Pediatrics & Medical Genetics Information/questions: Phone: 214-797-0031. Medical City Hospital Suite B311 7777 Forest Lane Dallas TX 75230 Miranda Ramirez Pediatrics 3608 Preston Rd, Suite 125 Plano TX 75093 •• Email: TheGgnome@aol.com Fax 972-566-2505 Fax 469-467-9343 More information: www.kinderGgnome.biz •• cc: Ralph Martinez Attny Rigoberto, Raquel Guerrero 29000 Woodridge Ste 202 1212 S Hazelwood St •• Houston TX 77087 Sherman TX 75090 •• •• •• •• • •• •• Ehlers-Danlos syndrome (EDS) discussion-Or. Wilson What is EDS? Ehlers and Danlos were dermatologists who in the early 1900s descnbed a syndrome (pattern) caused by lax •• connective tissue highlighted by patients with hyperelastic skin. In 1977, Dr. Peter Beighton organized intervening literature by postulating 7 EDS types, with type I involving skeletal problems plus extended complications of the bowel and circulatory system, type II showing mainly hypermobility, type III having hypermobility with many stretch marks, and type IV with tight lower facies, •• thin aged skin, and lethal vessel ruptures. Types V-VII are more localized and rare, affecting gums or producing odd skin lesions . Type IV was erroneously called the "vascular" type even though all forms ofEDS can have flexible and fragile blood vessels. Many physicians and geneticists continue to view EDS as a group of rare specific types, but my experience teaches that hypermobility •• disorders and EDS comprise a spectrum that is as common as diabetes. Most individuals have only hypermobility, a trait that they take for granted and become aware of only when they have frequent sprains or wear-and-tear arthritis. Others have more severe symptoms that can be disabling but not life-threatening, and the clinical diagnosis ofEDS emphasizes that patients have a true •• condition and that their anxiety, fatigue, and chronic pain are real symptoms rather than "in their minds" or branding them as hypochondriacs. The Inspire website (https://www.inspire.com/groups/ehlers-danlos-national-foundationl) is an excellent and patient- oriented source of information. •• Rarer, extreme'forms·'ofEDS-reflect single gencf(autosoin'al dominant)inheritante:-The severe types ofEDS along with other members of the connective tissue dysplasia category like Marfan syndrome (exemplified by an Abe Lincoln build) or osteogenesis -- •• imperfecta (OI or brittle bone disease) exhibit autosomal dominant inheritance, meaning that affected individuals have one normal and one abnormal gene. The abnormal gene dominates to cause connective tissue laxity-both genes make protein with the abnormal gene making a deformed protein that interacts with the normal protein like bricks in a wall. The deformed brick (protein) makes the wall wobbly and weak, translating to weaker and flexible skin, joints, and blood vessel walls. Severe forms ofEDS and related conditions •• can be diagnosed by targeted DNA testing-fibrillin gene testing for those with obvious Marfan syndrome, collagen type ill testing for those with obvious EDS type IV. collagen I testing for those with obvious 01. •• Most EDS cases are cause by multiple genes and comprise a spectrum: Most patients with EDS exhibit overlapping symptoms of joint popping/dislocation/injury with later arthritis, soft and elastic skin with unusual scars and bruising, migraines, heavy periods with endometriosis, and dysautonomia (altered function of the autonomic nervous system) with irritable bowel syndrome (IBS) and •• paroxysmal orthostatic tachycardia syndrome (POTS). In EDS, POTS is due to pooling of blood in lower extremities when standing with dizziness, fainting, fatigue, and "brain fog" (intervals of decreased focus and memory). Diagnosis ofEDS among many causes of dysautonomia allows therapy by increasing intravascular volume with hydration and salt to increase brain perfusion. Patients with •• broader symptoms are likely to have multiple gene changes compatible with multifactorial causation. EDS remains a clinical diagnosis: As of now the diagnosis ofEDS is clinical in most cases, meaning documentation of typical •• histories and physical findings (tall stature, lean build, hypermobility, skin elasticity). Patients can be grouped as hypermobile EDS (REDS) or classical (CEDS with broad symptoms) but this is greatly oversimplified, as are the 7 types described by Beighton. I tend to group patients with only skeletal symptoms as type II or ill (with associated stretch marks/scarring) and those with broader •• symptoms as type I. Since over 40 genes have been implicated in EDS, we can anticipate over 40 types with overlapping symptoms when DNA testing of multiple genes becomes routine. At present the clinical diagnosis of connective tissue dysplasia or EDS spectrum disorder is reasonable since it will guide patients and physicians to anticipate a broad range of medical complications and •• refute assumptions about mental illness or hypochondriasis .. The many possible gene changes make single gene (DNA) testing oflow yield except in cases with obvious Marfan or EDS IV. •• Gene testing for EDS: Three levels of gene (DNA) testing include I) testing for Marfan and related Loeys-Dietz syndromes through LabCorp (-$1600 and usually covered by insurance), 2) a 12-gene panel including Marfan, EDS type IV, and other rare forms ($3600 with guaranteed maximal $100 self-pay over insurance through the GeneDx company), and 3) exome sequencing examining the exons (protein-coding regions)ofall23,000 genes in our genome (rapid parallel/(NextGen sequencing of parent-child trios for $9000 •• through GeneDx with guaranteed max of$1000 self-pay over insurance). For the latter test, I can send insurance information to GeneDx to ascertain each family's self-pay amount which sometimes is much less than $1000. Sadly, most genetic testing is not covered by Medicaid or Medicare. Even a positive gene test may not lead to different therapy or management. •• EDS therapies: Arthritis is due to joint hypermobility with wear-and-tear injury (osteoarthritis), not from inflammation like rheumatoid arthritis or that due to lupus and other rheumatic diseases. Thus therapy is preventive with common sense •• recommendations for joint protection, favoring activities like swimming and avoiding those like long distance running, gymnastics, etc. Patients should remain active with moderate weight-lifting and other reasonable activities to build muscles aronnd the joints, preventing cycles of inactivity with increasing joint stiffuess and pain that present as chronic fatigue syndrome or fibromyalgia. The •• RICE (Rest, Ice, Compression, Elevation) approach to injury can minimize ongoing joint damage, and susceptibility to injury plus slow healing should prompt early orthopedic evaluation to exclude tears and fractures. POTS benefits from hydration (8 glasses fluid per day), salt in the absence ofhypertension, and vitamins (C--2g per day, D >1000 units per day, Bl2-2.5 mg per day, daily •• multivitamin and mineral preparation). ms can be helped by avoiding fluids before meals with small feeds and, for some, low gluten. • •• Jt".-31-2013 WED 05:35AM I Rece lued: rAX NU. May 22 2013 05:33Pm r. uc:. •• MF 22-2013 WED 05:17PM FAX NO. ?. 02 •• PHYSICIAN REFERRAL •• NOTE: Application cannot be processed without physician referral A TIENTION: Referring Physician -the following is REQUIRED data: 1) Child's Nama and Dilte of Birth •• 2) SgctiQLl.A and/or Section B completed in its ENTIRETY for determination of child's eligibility 3) Phvsician Signature, Date, Medical License Number, and Demographics •• If you have any questions regarding the referral an~/or services that TSRHC provides, please contact the Pa1ient Access RN at (214) 559~7559 or 1 {800) 595-7604 . Gl1~ {{~J() -~ uf? bet"\ •• Child's name Last 1 LU r.et S First Middle (SUfflk) Dat13 of birth CPL l Mo G tf Day f / Yr qCfCj • Section A- REQUEST FOR ORTHOPEDIC/MUSCULOSKELETAL , EVALUATION (completed by MD) •• •• •• ••• •• --;:;;..,(T (P.Thr31Met \Approximately jVanantof 1 j ((C5995T) ((T31M) ~40% iunknown \ ••• l : j ; !significance i :.........,.,.,.,_.,..,,.,..,.,_.._., .......,....... ,,,~\.··\.\."'"""'""'""""l""""""""' ....... """'·'''·'-"''-'•'"'"""'"'""'"'""""""=",....."'"'"""'""'""~~"""""".,.."...._""....,'"""""'"""(""""'""""'"·'"'"~'"""""'"'"'"'"""""'"""'""'""~"~"''-"'""'"'"'""""...._'"''"""'"'"""'""'!'f•1 ,,.,..,.~ A definitive mitochondrial DNA mutation was not identified. Subsequent testing L)f this individual's mother (GcneDx# 1437389) by Sanger sequencing found that she harbors the m.5995 C>T variant of unknown significance in the MT-COl gene at a level of •• heteroplasmy that appears to be lower than that found in her child . This individual's haplogroup and a table of observed polymorphisms are also provided.* The •• observed polymorphisms have not been reported to be associated with a disorder of mitochondrial metabolism when present in association with this individual's specific haplogroup . •• 1nterpretation; A variant of unknown significance has been identified in the MT-COl gene. The m.5995 C>T variant has not been reported in Mitomap (www.mitomap.org) as a n'lutation or a benign •• polymorphism, and it has not been reported in the general population [0 of 2704 individuals in mtDB www.genpat.uu.se/mtDB); 0 of 3735 individuals in MitoWheel (http://mitowheel.org/mitowheel.html); 0 of 6391 individuals in GeneDx mtDNA variant •• database]. The p.T31M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity and size. This substituti"m occw·s at a position where amino acids with similar prope1ties as Threonine are ••• conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information it is unclear whether this variant is a disease-causing •• mutation or a rare benign variant. If this individual's mother does not have symptoms of a mitochondria] disorder or has less •• severe symptoms than that of her child, the presence of the m.5995 C>T variant at an ~4.pparently lower level of heteroplasmy than her child supports this variant being a pathogenic mutati.on. If the mother has similar symptoms as her child, no further •• Recommendation: interpretation is possible . Clinical correlation and genetic counseling is recommended . •• GeneDx • 207I'orry Parkway • Gailhersbure, MO 20877 . Tel (30l) Slll·2100 - Fax {301) 519-2892 · www.grnedx.com • l'age 1 of 2 •• ,.• ~· 07-28-'15 14:18 FROM- Dav:~~ ' \ Denison 9034838830 T-514 P0007/0012 F-952 •• Genetic Testing Report •• Patient. Name: Date of Birth: GUERRERO, Lucas 9/4/199~ GeneDx Accession No: Date Specimen Obtained: 1436501 8!20/2014 •• Specimen Type: Blood in EDTA Date Specimen Received: 8/2U2014 Submitters ID No: None Date Test(s) Stat·ted: 8/28/2014 Ot·dered By: Dr. Golder Wilson Date ~f Repot·t: 11/25/2014 •• Methods: The entire mitochondrial genome from the submitted sample was amplified and sequenced using a solid state sequencing by-synthesis process. DNA sequence was assembled and •• analyzed in compm·is.on with the revised Cambridge Reference Sequence (1"CRS) and the reported mutations and polymorphisms listed in the MlTOMAP database (http://www.mitomap.org). The presence of a disease associated sequence variant, if •• present, is confirmed by conventional dideoxy sequence analysis or other methods. A reference library of more than6000 samples from different ethnic groups and online databases for mtDNA va.riations is used to evaluate variants of unknown clinical •• signit1cance. In some cases, additional testing may be recommended to elucidate pathogenicity. For mtDNA deletions, levels of heteroplasmy of 15% or lower may not be detected and for mtDNA point mutations, novel mutations with a heteroplasmy of lower •• than 5% may not be detected by Next-Generation sequencing . Reportable variants of potential pathogenicity were evaluated in the maternal sample by •• PCR-amplit1cation of the relevant portion(s) of the mitochondrial genome from genomic DNA. Bidirectional sequence was obtained and DNA sequence was analyzed and compared to the published gene sequence. The methods used by GeneDx are expected to be greater •• than 99% sensitive in detecting mutations identifiable by sequencing. Levels of mutant heteroplasmy 25% or lower may not be detected, and levels of mutant heteroplasmy 75% or higher may appear to be homoplasmic by Sanger sequencing . •• •• •• •• •• Report electronically signed by: Renkui Bai M.D., Ph.D., FACMG Report electronically signed by: Ed~n Haverfield Ph.D., FACMG •• Director, Genetic Testing for Mitochondrial Disorders ~X~IDNA RdSeq: NC_Ol2920.1 Director, Whole Exome Sequencillg Program : ;r;,;~;;;~~I;;'~di;;eill;~-;-;;;;~;~~~~;r(;;.~ci";~;n:To;t;;;p,;~;;;;;,;r-;dei.tiryi~gq;;-:ility d~r~~w(irt"~.;;;i~&'P-;;i;i;tio;s:;;;iii;~;;i;~'d~~~7,~- well ~s large sinele dt:l~lions) in mtDNA. For mtOI'lA deletions. this test will detect almost all disea5e-associated h~l2raplasmy n>ported to date (Bm1let ei al., 1992 Am J Hum Genet 51 :1187-1200; Sciacco et aL, 1994 Hum Mal Geoet3: 13-19); levels of heteroplasrny ot· 15% or lower may not be detected and the standard deviatil)n for heteroplasmy of large dele.tions is estimated to be 5%. Far mtDNA point mutat..ion~, novel mutations wilh a hettrophsmy of lower than 5% may not be detected. Nortnol findings do not rule out th~ diagnosi> of a nlitocl\cmdrial disordt:r. The dinical implicati01ls of some variaticms may be u>1lnown atlhe lime of lhi~ report. Thi~ test is used fm Clinic~! puq>oses, 1\ has not been cleared or approved by the FDA. The FDA has determined that •uch cleat:ll\C-' or approv~l i~ notn•c~ssary, Pun;uanl to the. . :e_'l_ui_r_e".'e.!IIS .~f _q,r_A. _:~ ~, _th~~-~-~~()ra_lo_r~ _h_a_s. ~.s!a.~.l \S~~~..~~1~.Y.~.r.\ ~!~~. \~!:. ~~.t:. ~ ~~~~=-~~r, .~!' ~ _P,~~i_si ~~:."'W.gtncdx.com - Page 2 of 2 •• 07-28-'15 14:16 FROM- Davit.9- Denison 9034636830 T-514 P0008/0012 F-952 •• •• Genetic Testing Report •• Patient Name: GUERRERO, Lucas GeneD:x Accession No: 143M;ol Sub!JliUers ID No: None Pr_o=-:v:..::id:::e:::d:::_____________ ------=D~a0;..;:teo:....::.of::....::.:R::::e..o::po.::.r::.;t~:•.: 0.: .9: . :/l=-=8.:. :/2: .;0:.: 1'--'-4· _ _ _ _ __ •• •MII)NA Polymorpllisms .I•• Nucleotide Pooitlon Func!S(lllal Loc:ltion Nucleotiole Change Codoll Ch:mge An'lino Acid Ch:ongt. :Frequ~.:nc:y (Gen. Pop) 146 MT·DLOOP. T::-C 899/5453 263 MT-DLOOP A,.G 5371/5453 315 MT-DLOOP 315dupC common !!860 MT·ATf'6 mANA A>G ACA-,.GCA Ti12A 6370/63..'}1 1: 15326 16291 MT-CYB mANA M~:DLOOP A>G C>T ACAo.GCA '"" T194A '" 631216391 118/5453 •• Haplogroup (liG): Wai.b •• •• •• •• •• •• •• •• •• •• •• •• -----------~---~~~~~~~-~~---~~~:~~~-~~~~~.------------- Geii~Dx 2(f1 Perry Parkway Gaithersburg, MD 20877 Thl (301) 519-2100 Fax (30l) 519-2892 WW».genedJe Genes Associated with Repo1·ted Phenotype: None identified . •• 2. Variants in Disease Genes Possibly Associated with Reported Phenotype: None identified. •• ACMG Inddellta.l Findings: None identified •• The results of the miwchondrial genome sequencing and deletion analysis are provided in the attached report. •• Whole _exome sequencing did 110t identify any definitive mutations or variants that relate to this patient's reported phenotype_ •• A medical provider can request an annual reanalysis of the exorne data generated with the XomeDx test. The current data can be reassessed for the presence of any variants that may be newly linked to this individual's phenotype since the date of this report. •• Additional Analysis Comments: Analysis of XomeDx for the proband includes evaluation of variants that are identified to be de novo (when both parents submitted), compound heterozygous (when both parents submitted), homozygous, hetemzygous and X·linked recessive in addition to rt.levant analysis based on the family structure and •• reported phenotype. (n view of the phenotype information provided, analysis in this case specifically included review of variants in genes associatr.d with tall stature, connective tissue abnormality, muscle weakness, hypotonia, joint hyper mobility, joint laxity, recurrent fractures, scoliosis, ortnostatic tachycardia, •• dysautonomia, delayed gross motor development, arthralgia, pectus excavatum, gastroparesis, gastrointestinal reflux, ureter abnormality, hyperextensible skin, soft skin, neonatal jaundice, vision abnormality, constipation, fatigue, hypotension, neonatal hypoglycemia, vitamin D deficie11cy, vitamin K •• deficiency, feeding difficulties, and prema~ure birth . The following genes associated with Ehlers-Danlos syndrome were specifically reviewed, with the percentage of the coding region covered at >lOX indicated in parentheses: COLlAl (98.7%), COLIA2 •• (99.9% ), COL3Al (95.5%), COL5Al (98.0%), COLSA2 (99.1%). No pathogenic sequence changes were identified in the coding regiollS of these genes covered by the XomcDx test •• •• Genel)x 207 Perry Parkway G3ithersbm·l?,, MD 20877 Td (301) !il9·210~ l.~·--~-?1_~~·~ ~il.5.0.11 ....... - ................. ----- --- -- -~~-t~-~~ ~-e.~o.~_t;_ _ _ ---------. Jt.(Z.~J~~-1.~.......... ................ . ACMG Incidental No reportable incidental findings were identified in coding regions covered by the XomoDx lest for 56 Filldings: ge1\es recommended to be reported by the AcMG (Green eL al.., 2013). See Appendix 1 for the list of 56 genes. Limitations Regarding Incidental Findings: Known or expected pathogenic variants in the 56 genes recommended by the ACMC are reported for the proband (see Appendix 1 for this list of genes (Green et al., 2013)). The presence or absence of the proband's identified incidental fmdings is available only for relatives who underwent whole exome sequencing as part of the proband's test. Variants that may be present in a relative, but are not pre.~ent in the proband, would not be detected and therefore are not reponed. Known or expected pathogenic variants may be present in a ponlon of the gene not covered by this te.st and therefore would not be detected. The absence of repmtable incidental findings for any particular gene does not mean there are no known or expected pathogenic variants in that gene, or other variants that may confer susceptibility to the disord~rs listed. Recommendation.- It is possible that this patient has a pathogenic mutation outside of the coding regions analyzed, or in a regulatory or deep intronic region that would not be detected by whole exorne sequencing. Additjonal genetic testing, which may be able to determine the presence of any other paU1ogenlc mutations, could be considered. Genetic counsoling is recommended to discuss the implications of this report. Methods.- Using genomic DNA from the submitt.cd spccimen(s), the Agilent SurcSelcct XT2 All Exon V4 kit was used to target the exon regions of the genome(s). These targeted regions were sequenced using the Illumina HiSeq 2000 SC4uencing system with 100bp paired-end reads. The DNA sequence was mapped to and analyzed in comparison with the published human genome build UCSC hgl9 reference sequence. The targeted coding exons and splice junctions of the known protein-coding RefSeq genes wen: assessed for the average depth of coverage and data quality threshold values*_ The Xomc.Analyzer was used to evaluate sequence changes in this individual compared to other sequenced family members. All reported sequence variants in the proband and relative samples (if submitted for variant segregation 31lalysis by whole ex~>mc sequencing) wac confirmed by conventional di-deoxy DNA sequence analysis or other appropriate method. *Quality Metrics !Mean Depth of Coverage 1 107x Quality threshold2 9!!.3% Tht: abovt' \.'aruru· u:prc11nl mt!frir:s from thi!i Xom~D_~ ~valJ.talion. 1M.:an tlr1pth of c.cvr:raec r,:fus lo Jlu .S!!!qu..;:nc~ m~...an read depth .a(;'C:SJ I}U! Xum~D.x targgcc~cJ tegiun. kfined c.l.l' r:otling t:.rons cmd spUc;e.juncliom of AgiltJnl Sur~Sdt!cl XTL All Ex.on VtJ ~~targeted prort!in cadi718 RttJS~q gan~s. 2 11,~ quality thu_shold r~f~r.s co Lhi! pr:::rcl!JT.tae~ Dj the. XomttD.r. tkfiru:d to.rgei ,-~gion. wh~t~ read di!pth. wa.s a.l ~.:c.s( JO:x t;o.-etag,; (Q perm if },;gh quality o..Orn8 votianl b.tu~ calJin.e~ amwta.lifJn and t!1tahmtion. Av~ragtt quality th~shalds may ran.gl!.jrom >90·95% of lh~ XomaO.,. (l)riefed reg(on, ilKliCMi~&g u .YmaU porlion Q{ tlw rwg c~vued wl/1•-1ufficiIiry to confldetllly call varicmr po>ilitfll.s. GeueD: te•t should be used for clirticalputp()SU. 11 has not been clear.,(] or approved by the I'D A. The FDA has detemoi11ed that such clear~nce ar ~pproval i~ not neces&~ry. Pu~.?.~-~-~~-~-=-~-~:!~~.'!.s~.=..~.s~-·------------------------------------·······-------------------···--·····--·······----- ............................................................... . GeneDx 21YJ l'"UY l'llrkway C~itbersburg, MD 20877 l'aee 3 on Ttl (301) 519-2100 Fax (301) 519-259.2 www.cenedx.com •• • • 07-28-'15 14:17 FROM- Dav :-~a Den i son 9034636830 T-514 P0012/0012 F-952 Appendix 1. 56 Genes Reviewed for Incidental Findings (G..-cen ct al.. 2013): Gme Di~etln Modt 6f lnl,..'itarl(e MIM-Gf.no ACTA2 Marf:11> Syndroroo; l.ooys-Dietz Syndromo3; TAAD Auto::-oJlla1l)Qmino:tnl 102620 ACTCJ Hypcttrophirnyopathy; Oiht•d (.m!iomyopathy AutO£Ofna\ Dcrni(•Ml 102540 APC F«milial ad~nomato\\3 polYPosis Aulo>-;>rn~l Domin;ont 611731 APOB Familia! hypereholestorolornia A\1\osomal Dominant 107730 BRCAI H~r.dit~ l:!reast ood Ovarian Cancer Aulo!X>rnl Domin;mt 113705 BR.CA.l Horeditlll)' B.,..,.-t >Od Ovsri.n Cancer Aulosorual Dofi,in:11>l 600185 CACNA!S Malignaot hyperthent~ia ~usonilial hyperd,ol•st..>olornia Autosomal Dominant 606945 LMNA Hyp~rtrophic cardiomyopathy; DilatOrual Domirl"'lt 160781 MYL3 .HyP"rirophic cardiomyopathy; Dilated cardiomyopathy A"lo=<>mal Domin3Jll 160790 MYLK Mar(an 3yn~rom•: L<><>ys-Di~lz Syndromes: TAAD AutoOOrDal Domirlarot 60092.2 MYH7 llyp~rtrophic ~ardiomyopathy; Dilated cardio>!lyopathy Allto.omal Dominant 160760 •• MYHll ~or{.., Syndrom~: l.oey•-Dietz Syndromes; TAAD Aut-os-or·n:ll Oomir't.ml 160745 NF2 Ne\rro!ibromstosis type 2 A\OIO~'Ornal Dominant 607379 PCSK9 Frunilial hyper"tho!eel~tol~::mia. Autosomal Dominant 6()1186 PKP2 Arrltythmogeni~ right ventricul:!r cardioroyopall1y Aulo.oom~l Dominant 602861 •• PMSZ L.vnoh Syndrome AutoSOln'3.\ Dunllr)~P'It 600259 PRKAGZ Hypertrophic Ollldiomyop•thy; Oil•!od cardiomyopathy Autosorual Do>!>itlant 602743 PTEN PTEN Hamartoma Tumor Syndrom• Autosomal Dominant 60171.3 RBI · Rotinoblaotom a Autosomal Dominant 614041 •• Multiple Endoorino Nility Autosomal Dominant IS0901 RYR1. Catc~holaminergj~ polymorphic ventrioulor (4chyoardia Autosomal Domin:mt IK090l •• SCNSA Lon!!: QT syndrome: Brugada ~yndroroe Autosomol Dominant 600163 SDHAF2 H.cod~t.ry P"'•ganglioma-l'heochrotilocytoros Syndrorue Autooomal Oominanl 613019 SDHB Hereditary Pot':lg:,ozliomi>"Phooc;;hromooytoma Sydnrome Autosomal Don1inanl 185470 SDHC fioreditarv PSI'a~ar,g:lioma-Phocchroroooyloma Sydnromc Autosomal Domin:illt 60241~ •• SD!ll) SMAD3 STIyopathy Autosomal Dominant 191044 •• TNNT2 Hyp•rtrophio cardiomyopathy; Dilated co;diort>yopatJ,y A~>towmalbominanl 191045 TP53 Li-Fra11m~ni Syndrome Autosomal Domi11a .•• ' •·, •. •· ·•·.·.. ~'· ·• "•" VITAMIN "D" DEFICIENCY .•.• .. • ·. ; ~-. ~-·:..• recognized Centers of Excellence in dozens of pediatric subspecialties, including allergy, cardiology, cystic fibrosis, gastroenterology, nephrology, neurology, neurosurgery, oncology, pulmonary, and transplant. Hopkins Children's Center is celebrating its 100th anniversary in 2012. For more information, please visit www.hopkinschildrens.org •• •• •• •• •• •• •• •• •• •• •• •• •• •• •:2 1/3112013 11:18 A; •• _mm u More Common m uvJrweight Kids http:/1children.webm About the AAP > AAP Press Room > Kids and Vitamin D Deficiency Advanced Searc p •• AAP Facts Departments & aaa print email share AAP MEDIA CONTACTS AAP Department of Communications Phone: 847-434-7877 •• Divisions Email: commun@aap.org Committees, Councils & Sections Kids and Vitamin D Deficiency · AAP Department of Federal Affairs •• Chapters & Disbicts 10118/2012 Phone: 202-347-8600 AAP Press Room Email: kids1st@aap.org Press Room Archive For Release: October 17, 2012 Related lnfonnation •• News Features Rosemont, IL, October 17, 2012 -A startling increase in the frequency of severe vitamin D Vitamin D Supplementation Health & Safety Tops deficiency is being reported in the U.S. and other counbies. This severe deficiency can for Infants Public Service have a devastating impact on a child's bone strength, the United States Bone and Joint The American Academy of Pediatrics (AAP) recommends Vitamin D •• Announcements Initiative (USBJI) says. "Vitamin D is essential to our body's ability to absorb calcium from supplementation for breastfed infants AAP in the News our diet to buUd strong bones which are the building blocks of a healthy body, and to make because they generally do not obtain muscles move," says Dr. Ellen Raney of Shriners Hospitals for Children in Portiand, adequate Vitamin D from other sources. AAP Press Room Oregon. Several groups have joined USBJI to raise awareness of the importance of strong Media Center Media Kits •• bones and muscles during World Pediabic Bone and Joint (PB&J) Day, celebrated on AAP Conferences The American Academy of Pediatrics October 19, which is part of Bone and Joint Health National Awareness Week (Oct. 12-20) . Press Information (AAP) assembles practice guidelines, key studies and other information to assist Media Kits Dr. Raney explains, "Vitamin D deficiency or nubitional rickets can show up in several reporters who are researching stones . •• Spokesperson ways. If the problem starts early, kids' growth may be severely stunted. The anns or legs may not grow straight, or bones may be weak and easily broken." Media Kit: Nutrition Resources The American Academy of Pedaitrics Leadership Bios (AAP) has assembled key reports, Jesus• is a 14-year-old boy with a dark complexion who began to complain of knee pain studies and other resources to assist Embargoed Media when he ran. Always a bit •knock-kneed," this became more pronounced, and he stopped reporters in their research on nubition. ••• Content playing basketball because of knee pain. His examination and X-rays showed severely abnonnal bending at both knees. A blood test showed severe vitamin D deficiency. AAP Recognizes the Donate Now Importance of School Jack• is a 15-year-old boy with very pale skin who has always preferred video games to Physicians Corporate Every school disbict should have a sports and doesn't get outside much. He was able to participate in physical education in school physician and every school Relationships school until recently, when he began having pain in both knees. His examination and x-rays •• building a school nurse, according to a Employment at AAP showed he had fractures in both shin bones. His vitamin D level also was severely new policy statement from the American deficient. Academy of Pediabics (AAP). Advertise with AAP ,. .. Strength Based Approach Neither of these teenagers was born with this problem. Jesus' vitamin D deficiency A3.. •• Help!Feedback Building on the asset model, the strength prevented his bones from growing straight. Jack's severe vitamin deficiency led to his bones being too weak to support his weight. l'l'/f-:;." .... _ .;::_ • based approach gives a broad perspective on development more so than the traditional deficit approach . During sunny times, the body can make sufficient vitamin D with just a few minutes a day •• of midday sun exposure without sun screen. However, dermatologists caution against direct sun exposure to avoid risks of skin damage and skin cancer. A useful alternative to sun exposure is supplemental vitamin D. There is some controversy about the amount of vitamin D that children and adults should take in, ranging from 400 IU to 2,000 IU daily. The •• American Academy of Pediatrics and the Institute of Medicine recommend a daily intake of 400 IU per day of vitamin D during the first year of life beginning in the first few days, and 600 I U for everyone over age 1. Everyone- and in the case of children, their parents- should consult their primary care professional to determine the correct amount of vitamin D •• they should be taking to ensure optimal vitamin D levels . Both of these youngsters are doing well now thanks to a team approach including orthopaedic and pediabic specialists, and each has been placed on a vitamin D •- replacement program specific to his needs . For more information about Vitamin D levels recommended for children, visit the website for the American Academy of Pediabics, the Institute of Medicine, or Your Orthopaedic •• Connection . This story is brought to you as part of World Pediabic Bone and Joint (PB&J) Day , celebrated on October 19, which is part of Bone and Joint Health National Awareness •• Week (Oct 12-20). ### • j2 1131/2013 11:11 A1 '-·.u V lli:Ulllll U Ut;ll\;U:;U\;J J.J.LLj-'.1/ YY YY YYeUU}'•VJ.5'"'.LL·u~IUVV-&. ....._._ .... --t"....,_t' 1"... ..,..._,.._. • ...,...,......... t"-0 -._.,_...._ .. _ -• ••-· -·•••• The American Academy of Pediatrics is an organization of 60,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated to !he health. safety and well-being of infants, children, adolescents and young adults. For more information. visit www.aap.org . • •• Professional Resources Continuing Medical Education Advocacy & Policy AAPStore About the AAP •• Practice Support Pedialink/Online Education AAPPolicy GototheAAP AAP Facts Clinical Support Maintenance of Certification Federal Advocacy Bookstore Departments & AAPPolicy Continuing Medical Education State Advocacy Clinical Divisions Publications Publications Committees, •• Research Community Advocacy Education in Quality Improvement for l..ife Support Councils & Sections Journals.& Publications ·. J>evl-startclickprintexclude-> By Denise Mann A whopping 70 percent of American kids aren't getting enough vitamin D, and such youngsters tend to have higher blood pressure and lower levels of good cholesterol than their peers, •• according to two new studies published this week in the journal Pediatrics. Low vitamin D levels also may increase a child's risk of developing heart disease later in life, experts say. "We were astounded at how common it was," says study author Dr. Michal Melamed, an assistant professor of medicine, epidemiology, and population health at the Albert Einstein College of Medicine, in the Bronx, New York. .. There is a lot of data that suggests adults with low vita min-D levels are at risk for diabetes, high blood pressure, cardiovascular disease, and a lot of cancers, and if kids start out with low levels and never increase them,.they may be putting themselves at risk for developing all of these diseases at a much eartier age." •• Vitamin Dis often called the "sunshine vitamin" because the human body makes it only when exposed to sunlight- although it only takes 10 to 15 minutes a day to make an adequate amount. Vitamin D, which helps the bones better absorb calcium, is also added to multivitamins and milk . In Melamed's study, the researchers looked at the vitamin D levels of more than 6,000 people ages 1 to 21. They checked for vitamin-D deficiency, which is defined as less than 15 •• nanograms per milliliter of blood (ng/mL), and vitamin-D insufficiency, Which is defined as 15 to 29 ng/mL Overall, 7.6 million, or 9 percent, of U.S. children were vltamin-D deficient, and another 50.8 million, or 61 percent, had insufficient levels of this important vitamin in their blood. Children with low levels of vitamin D were more likely to have high blood pressure and lower levels of high-density lipoprotein, also known as good cholesterol .. two factors that are considered major risk factors for heart disease later in life. Health.com: How cholesterol affects your heart's health •• Children with low vitamin-D levels also had higher levels of parathyroid hormone than their counterparts with adequate vitamin D in their blood. Parathyroid hormone is a measure of bone heatth. When levels are high, it suggests that bones need more calcium to grow. ~~;1 \1\B.tch more on kids in the U.S. and low levels of vitamin 0 » Overall, those most at risk for a vitamin-D deficiency were older, female, obese, drank milk less than once a week, and spent more than four hours a day watching TV, playing video games, •• or working on a computer. They were also more likely to be children with darker skin, Including non-Hispanic blacks and Mexican-Americans. (Children with darker skin are more likely to be deficient in vitamin D because they have more melanin than their fairer counterparts. Melanin is the pigment that gives skin color, but it may prevent the skin from absorbing enough sunlight to produce an adequate amount of vitamin D.) Health.com: Battle aging with vitamin D In the second study, a research team led by Jared P. Rels, Ph.D., of Johns Hopkins Medical Institutions, looked at 3,577 adolescents ages 12 to 19. Those with low levels of vitamin D were •• more likely to have high blood pressure, high levels of blood sugar, and metabolic syndrome (a cluster of factors known to increase risk of heart disease) than their counterparts with ample vitamin D in their blood, regardless of how much they weighed. Exactly how a lack of vitamin D Increases the risk of heart disease is an evolving story. In terms of blood pressure, vitamin D helps control renin, a protein that plays a role in regulating blood-pressure levels. Health. com: Why belly fat increases type 2 diabetes risk •• The best vitamin·D boosting strategy Involves a three-pronged approach, says Melamed. "You can get a little bit from food, but not as much as you need," she says. "Supplements are readily available, and kids like to take Flintstones or gummy-bear multivitamins, which typically contain vitamin D."" Also, parents should help their children get at least 10 to 15 minutes of sun exposure daily without sunscreen. "Set your watch and then apply sunscreen after 15 minutes;• Melamed says. •• Some children, including those In high-risk groups, may need to be screened to check for low vita min-D levels. Dr. Michael F. Holick, Ph.D., a professor of medicine, physiology, and biophysics at Boston University School of Medicine, and the author of "The Vitamin D Solution" (to be released In April 2010), has been sounding an alarm about the dangers of low vitamln-D levels for years. Health.com: Easy food swaps cut cholesterol, not taste •• "This is a recipe for serious diseases occurring in our children when they are in their 20s and 30s," he says. Holick was among the first to document the return of rickets-a disorder caused by a lack of vitamin D and other minerals-which can lead to the softening and weakening of the bones. Health. com: How to get vitamin D safely "[But] rickets is just the tip of the iceberg," Holick says. "VItamin-D deficiency has insidious, serious long-term health consequences for children that could remain with them throughout their lives," he explains. "(Parents should know) their child is likely to be vitamin-D deficient if the child does not take a supplement of 400 IU vitamin D a day and receive some unprotected •• sun. II is next to impossible to get enough vitamin D from diet, and the sun-phobic attitude has made the problem much worse." ENTER to win a monthly Room Makeover Giveaway from MyHome/deas.com COPYRIGHT HEALTH MAGAZINE 2009 •• All AboutCholesterol • High Blood Pressure •• Find this artide at: http:/lwww.cnn.com/2009/HEALTH/08/03/vitamin.d.childrenlindex.html#cnnSTCText •• El Check the box to include the list of links referenced in the article . ~ 2008 Cable News Network •• • 1 1/31/20 13 11 :26 A •• I Ehlers-Danlos Syndrome I Doctor I Patient.co.uk Page 1 ot) •• •• Ehlers-Danlos Syndrome •• PatientPius articles are written by UK doctors and are based on research evidence, UK and European Guidelines . •• They are designed for health professionals to use, so you may find the language more technical than the condition leaflets . •• Ehlers-Danlos syndrome (EDS) is a rare inherited condition with disruption of the integrity of structural proteins in skin, ligaments, cartilage and blood vessels, leading to fragility of connective tissues . •• ·Epidemiology • Ehlers-Danlos syndrome (EDS) affects approximately 1 in 5,000 live births. 111 •• • Inheritance is usually autosomal dominant. •• Presentation Abnormalities of collagen production result in: •• • • Bruising, bleeding from the gastrointestinal tract. Dissecting aortic aneurysm at an early age . •• • Wide scars . • Laxity of joints. • Herniae . • Hyperelasticity of skin . •• The first presentation may be premature rupture of the membranes . •• •• •• •• •• •• •• •• •• Types of Ehlers-Danlos syndrome • http://www. patient.co. ukldoctor/ehlers-danlos-syndrome-pro 1/20/2014 ,. I Ehlers-Danlos Syndrorhe I Doctor I Patient.co.uk •• Page 2 ot5 •••• There are many types of Ehlers-Danlos syndrome (EDS) based on different gene mutations affecting the structure or assembly of different collagens. All share common features of fragile skin and laxity of joints and ligaments. The Villefranche Save time & improve your on Patient.co.uk •• classification of EDS substituted descriptions for earlier types numbered with Roman numerals:l2l Add notes to any clinical page and create a reflectivE •• • Classic (formerly known as Type I and II): • Classical features of EDS (soft, doughy, hyperelastic skin) with atrophic scars . •• • Multiple bruises, especially on the legs . • Easy skin-splitting shows in childhood over the forehead, elbows, knees and chin . •• • Other features are epicanthic folds, blue sclerae, fibrous nodules over knees and ankles. Automatically track and log eve, page you have viewed •• • Hypermobile type (tormaily known as Type Iii): • Most common and often not diagnosed. Print and export a-" _. .-.~,M- · "e"' "=~~oe -~~tion • Certified member ..,e:.Vd'........,l""""'""""""'ar:llH. ' - - - - - - - - - - ' - • ~llJq'Q' U<:I:IQU .,__~'-' •• Egton Medical Information Systems Limited. Registered in England. No 2117205 Registered Office: Rawdon House, Green Lane, Yeadon, Leeds LS19 7BY •• •• •• •• •• •• •• •• • http://www. patient. co. uk/doctor/ehlers-danlos-syndrome-pro 1/20/2014 •-·. Ricketts or Vitamin D deficeincy can there be a Genetic Link - JustAn.swer Page 1 of2 ,.••,. , answer.® Medical ••• -·• Ricketts or Vitamin D deficeincy can there be a Genetic link Sent to Medical Experts September 8 2009 at 10:14 PM •• Ricketts or Vitamin D deficeincy can there be a Genetic Link ? •• ·~ 0ptionallnformation:·· Gender: male •• Age: 5mos Already Tried: •• Another sibling( currently lOy/o) has had this deficiency & he suffered broken bones@ the age of 2mos.Later he developed lesions to his eyes & that time this child was about 5 y/o so then was diagnosed with Vitamin A deficieny. Later as the child grew he also became Deficient •• in Vitamin E, & K. This 10y/o child currently sees an Endocrinologist for treatment. This 10 y/o has seen a GI doctor, whom says there is nothing wrong, so the only MD willing to treat the 10 y/o sibling for the Vitamin Deficiencies is the Endocrinologist. I am concerned because the •• Smonth old is half brother to the 10 y/o & I had seen a few familiar sypmtoms that were also present on the iDyjo . Sept99 (Onlin.s} -- 1 Accept I LQuesticn. .... - •• Status: Awaitin9 Expert Reply Va!ue: $45 •• Septernber 8 2009 at 10:24 PM (10 minutes and 24 seconds iater) •• Thanks for your important and interesting question. I would say that as we know that in rickets there is weakening of bones and muscles due to !ack of vitamin D and/or calcium. Yes there is linkage in a rare type of rickets. There is a type in rickets caHed familiai •• hypophosphatemic rickets which is a rare disease to have and mostiy transmitted as an X- !inked dominant trait, and mutations on the phosphate regulating gene X-chromosome (PHEX) gene are responsible for the disease. Similarly, two hereditary defects related to vitamin D •• metabonsrn map tc human chromosome 12q13-14. There ~sa need for more stud~es to be done and trials are going orL •• Do .A.CCEPT the answer if you find it ·usefui in this way I rnight get cornpensated for rny vvorK and time here. Bonuses and positive feedback vv-Hi be appreciated . •• Best of !uck and keeo in touch Regards DL ,Arr1lr Javed •• Edited by Qr_ Amir on September 8 2009 at 10:42 ~f"'l Dr. Amir (Offline) -· Doctor -- 100°/0 Positive Feedback on 1297 Medical ·-·..... ;; CU$i0MfR'cS •• Accepts fv1BBS, Master of Interna! medicine & Gastroenterology w1th three years of experience (london) ..!. CHOKE AWARD •• •• •• Ricketts or Vitamin D deficeincy can there be a Genetic Link - JustAnswer Page 2 of2 •• •• Your Reply Edit September 8 2009 at 10:58 PM (33 minutes and 33 seconds later) •• where do we get testing? 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