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Thursday, January 21, 2010

WAS Presentation Picturing David and His Blog

This Power Point presentation was done by a few ladies working on their Master's Degrees. Briana foundDavid's blog and asked if she could use some of the info and pictures. I was happy to help and wish themall the best! They got an A+!Wiskott Aldrich Syndrome Final Powerpoint
View more presentations from Jefferson School of Education.
Posted by Aimee at 8:43 AM

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David McNally - Wiskott Aldrich Syndrome, Bone Marrow Transplant, and Graft-vs-Host Disease

My son had a mild common mutation of Wiskott Aldrich Syndrome (WAS). We decided, after 2 years of research, to not do the BMT but one month after our decision, he had a brain hemorrhage from jumping on a trampoline. His hemorrhage was treated with platelets but we were quickly encouraged to do the BMT. When he was two yrs old, he had a BMT with a 10/10 unrelated adult donor. We hope our research will help other families struggling with WAS. Feel free to email me: aimeemcnally@gmail.com

Coping with WAS

My photo
Aimee
View my complete profile

Organizations

  • National Institute of Health - Contact: Dr. Fabio Candotti, expert in Wiskott-Aldrich Syndrome
  • National Marrow Donor Program
  • Cord Blood Donation - Free of Charge!
  • CryoBank International - Free Cord Blood Collection Kit
  • International Patients with Primary Immunodeficiencies
  • For Pete's Sake Foundation
  • GVHD Online Discussion Group
  • Platelet Disorder Support - an interesting source, but WAS is not the same disorder as ITP
  • National Transplant Assistance Fund
  • Bone Marrow Donors Worldwide
  • International Kids Fund - they will create a website for you and support donations
  • Immune Deficiency Foundation Friends
  • National Bone Marrow WEBCASTS
  • Fertility Preservation Program of Pittsburgh
  • Fertile Hope
  • Wiskott-Aldrich Foundation

Followers

Medical Journal Articles

Autoimmunity in Wiskott-Aldrich Syndrome:Risk Factors, Clinical Features, and Outcome of 55 Patients (2003 Sophie Dupuis-Girod,et al)

Clinical course of patients with WASP gene mutations (2004 by Kohsuke Imai,et al)

High Incidence of Lymphomas in a subgroup of WAS patients (2003 British Journal of Haematology)

A Multiinstitutional Survey of the Wiskott-Aldrich Syndrome (1994 Kathleen Sullivan, et al)

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP):hotspots, effect on transcription, and translation and phenotype/genotype correlation (2004 Yinzhu Jin,et al)

Splenectomy and/or Bone Marrow Transplantation in the Management of the Wiskott-Aldrich Syndrome:Long-Term Follow-up of 62 Cases (1993 Craig Mullen,et al)

Splenectomy in the Management of the Thrombocytopenia of the Wiskott-Aldrich Syndrome (1988 Lum, et al)

Unique and Recurrent WAS Gene Mutations in Wiskott-Aldrich Syndrome and X-Linked Thrombocytopenia (1999 Lisa J. Thompson,et al)

WASP and the phenotypic range associated with deficiency (2005 by Notarangelo LD and Ochs HD)

WAS:another piece in the puzzle (2005 L.D. Notarangelo,et al)

WASP gene mutations and phenotype (2003 Kohsuke Imai,et al)

WAS/X-Linked Thrombocytopenia:WASP Gene Mutations, Protein Expression, and Phenotype (1997 Qili Zhu,et al)

Wiskott-Aldrich Syndrome in Argentina: 17 Unique,Including Nine Novel, Mutations (El-Hakeh, Jazmin, et al)

Understanding and Coping with WAS

Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation

Blood Tests

Normal Blood Count Range:
White Blood Cells (WBC): 5,000-10,000
Absolute Neutrophil Count (ANC): over 1500
Hemoglobin (HGB): 11.5-13.5
Hematocrit (HCT): 34-40%
Platelets: 160,000-500,000

Lab Tests Online How to Understand Them

Reference Intervals for Serum IgG, IgA, IgM, C3 and C4 by Age

T-Cell Mitogen (proliferation) Reference Ranges:
PHA: >93,000 cpm
ConA: >76,000 cpm
Poke Weed (PWM) >85,000

Medical Help

  • T-cell Disorders
  • Splenomegoly - This is enlarged spleen - There is info on splenectomy
  • Intravenous Immunoglobulin after splenectomy
  • Biology of Blood and Marrow Transplantation - excellent source of medical articles
  • Date Duration Calculator (to find what BMT Day you are on
  • Wiskott.org
  • Gammaguard IVIG
  • Cute Medical Bracelets

BMT and GVHD

  • Bone Marrow Transplant
  • Broviac Hickman Catheter
  • Kidney Function Test
  • Bone Marrow Transplant Long-Term Effects
  • Quality of life and behavioral adjustment after pediatric bone marrow transplantation
  • Chemotherapy Drugs, Effects, Diet
  • Liver Damage After BMT
  • Thymus Damage
  • GVHD
  • Treating GVHD
  • Daclizumab (Zenapax) and Steroids Study
  • Mouth Treatment
  • Malnutrition and TPN Support
  • Statlock Double Lumen Secure Device
  • Clinical Staging and Grading
  • Colostrum for Gut GVHD
  • Similar Colostrum Study
  • High Blood Pressure Medications
  • How I treat chronic graft-vs-host disease
  • How I treat refactory acute GVHD
  • Cushing's Syndrome from Prolonged Steroid Use
  • Engraftment Syndrome
  • Acute pancreatitis due to tacrolimus in a case of allogeneic bone marrow transplantation
  • Stools - Healthy and Not so Healthy
  • National Bone Marrow WEBCASTS for parents dealing with children with GVHD
  • Screening for Chronic GVHD (nice pictures!)
  • Transplant Centers Who Have Done WAS BMTS
  • Endocrinological late complications after hematopoietic SCT in children (thyroid problems)
  • GVHD National Symposium

Databases

  • WASPbase of 441 Patients

Definitions

  • Wiskott-Aldrich Syndrome (WAS)
  • Define: Petechiae

Disclaimer

We are not Doctors, nor do we have any medical training. Any views or information posted on this blog is either our untrained speculation or personal opinion. The content of this web log is intended for public consumption, but it does not necessarily attempt to report medical information with precision or accuracy.

Books and Publications

  • FREE Publication by the National Marrow Donor Program, called Advances in Transplantation
  • FREE Stem Cell Coloring Book
  • FREE E-Book Ben's Bone Marrow Transplant
  • FREE E-Book Me and My Marrow
  • Children's Book Reading List
  • One Hundred Days by David Biro

WAS Families at carepages.com

  • ADYniguez - Gene Therapy
  • ChristopherLiscano - Splenectomy
  • CJLaPenta - Cordblood BMT Healthy
  • JaceLecours - BMT Healthy
  • JacobSchroeder - Sibling donor BMT Healthy
  • MackiePryor - Gene Therapy
  • masonfernando - BMT Healthy but some complications
  • RandsJourney - Sibling donor BMT Healthy
  • sammyveitch - BMT Healthy
  • SeanCampbell - Cordblood BMT - Healthy
  • TaylorRyanFisher - Cordblood BMT Healthy

WAS Families at caringbridge.com

  • Baden Thomas Klien - Cousin donor BMT Healthy
  • Elisha Henderson - BMT deceased
  • Ethan Fretz - Sibling donor BMT Healthy
  • Ian McGahee - BMT deceased
  • Jameson's Journey
  • Owen Charbonneau - BMT Healthy
  • Varun - Cordblood donor BMT deceased

WAS Families at Other Places

  • Austin Clover in the UK
  • Ayden - BMT Healthy
  • Baden K. - BMT Healthy + article
  • Baden K. - BMT Healthy + Big Heart
  • Declan - BMT Healthy
  • Hayden Blatter - BMT Healthy
  • Hunter - BMT Healthy
  • Josiah - BMT Healthy
  • Kyler - happlily living
  • Mason B. - BMT mostly healthy
  • Max 'der Starke'
  • Oliver in England - BMT Healthy
  • P.J. Lyle - BMT Healthy
  • Sean - Cordblood BMT Healthy
  • Sebastian De La Puente - in Spanish
  • Sebastian's Page - in English
  • Viggo - Sweden - BMT Healthy
  • William from England - BMT Healthy
  • Zac Rugless from NSW Australia - BMT w/ complications

David"s Mutation

  • Spontaneous mutation (mom is not a carrier).
  • 257 G>A (R86H)
  • mild to no eczema (just a couple of dime sized spots)
  • no infections
  • no ear infections
  • thrombocytopenia with platelets numbers 28-38K
  • blood streaks in diaper
  • petechiae on forehead.
  • Clinical Score was a 1 or 2
  • never needed platelets or IVIG before transplant
  • had a pretty good immune system.
  • BMT Conditioning: Busulfan, cyclophosphamide, fludarabine and alemtuzumab.
  • WAS Clinical Scores

    Jin et al (2004) employ a numerical grading of severity:

    0.5: intermittent thrombopenia
    1.0: thrombopenia and small platelets
    2.0: thrombopenia and normally responsive eczema or occasional upper respiratory tract infections
    2.5: thrombopenia and therapy-responsive but severe eczema or airway infections requiring antibiotics
    3.0: both eczema and airway infections requiring antibiotics
    4.0: eczema contiuously requiring therapy and/or severe/life-thtreatening infections
    5.0: autoimmune disease or malignancy in an XLT/WAS patient

    David's Symptoms During and After Transplant

    • Ate and breastfed through transplant
    • Bad Skin Graft vs. Host Disease
    • Cataracts from chronic steroid use
    • Differnt donor blood type = numerous transfusions
    • Donor blood type took over so no more transfusions
    • Hashimoto's Thyroiditis
    • High hemoglobin or called polycythemia
    • Intestinal problems due to steroids = antacid
    • Low blood counts = transfusions
    • Low Magnesium and Potassium = liquid calcium supplement
    • Low self-esteem and emotional sensitivities
    • Needs to drink lots of water
    • No dry eyes, or GVH in gut or liver
    • No mouth sores
    • No TPN
    • Papillidema - optic nerve swelling
    • Severe Spinal Headaches from Lumbar Punctures
    • Stunt of growth because of steroids
    • Very high blood pressure because of medications