WBC - 12.3
Hemoglobin - 14.2
Platelets - 329
Blood Pressure - 122/77
He is getting IVIG today. No problems. His skin looks really good lately. I've been working very hard keeping him covered, using hats, sunscreen, and shade. The temp is supposed to be 100 degrees so it's not easy staying cool. I bought him a mister fan which he thinks is fun to play with and squirt his friends. We are not making any changes to his medications.
Growth - He is growing very slowly. Doctor Argawal said his body's energy is going into fighting the chronic GVHD not growing. She encouraged me to keep feeding him a lot of calories and cater to his requests within reason. August 1st will be his second BMT re-birthday. He will see an endocrinologist to test his growth hormone. Dr. Argawal is not concerned about his growth at this time. She says he has not been on steroids "for that long." I disagree since being on steroids for any period of time...is too long in my opinion. She said at around 8 yrs old, they will seriously consider giving growth hormones if he still has a problem.
Blood Pressure - His blood pressure was better today. It's still on the high end of normal. He has a red face most of the time, but Dr. Argawal said that is due to the blood pressure medication, not the blood pressure.
Socially - We receive so many comments from strangers that I am beginning to get irritated. His growth is slow and the red face makes him stand out wherever we go. He often looks tired. Strangers make innocent comments that make him uncomfortable. On the flip side, many people say he is so cute, which is nice to hear.
Other than that, we are doing fantastic. We had a wonderful Mother's Day camping in Mendocino and meeting Michael's parents for a vegetarian brunch. The girls showered me with many cards and hand-made gifts. I love all of my children so much! Happy Mother's Day to everyone in cyberspace who reads this.
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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.
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
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
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
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
Definitions
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
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
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
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
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
3 comments:
Socially -- I can still remember all the stupid comments we would get regarding Jacob's bruises. I used to wonder if the people even realized that he had feelings. Thinking of you.
Amy
We get comments about Shimmy still not walking unaided and people want to know if the chemo did this to him... i have really learnt the hard way that we, as parents, have to realise that we have to go beyond other people's often senseless words..
David is a gift. He is alive and here, so just enjoy him..
Belinda
Hi,
Try not to take those thoughtless comments to heart. I think we all have those. I one time was told by someone to remove Baden's raincover from his stroller because we were in doors, and it was warm. I think the words that are etched on my mind were 'don't do that to him, haven't you heard of the bubble boy.' It upset me so much and it happened more than once. As you know, the cover was to protect him. I remember telling the man that he had no idea and I walked away crying. Anyway, what I have learned is that it is not worth worrying about. I do everything I can to make sure that Baden knows that he is a wonderful brave special human being, and that the world (and my life) is so much better because he is here. When Baden was sick I used to sing Elton John's Your Song to him and the words are true for Baden and all little boys with Wiskott 'How wonderful life is, cause you're in the world.'
Have a good one.
Joanne.
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