This is a video I put together from pictures and videos from my boys' bone marrow biopsy day- it's got some fun stuff, but has graphic bone marrow biopsy pics at the end. As of 2013, each of my boys has had over 25 BMBs each.
Saturday, November 9, 2013
Monday, April 29, 2013
Shwachman-Diamond Blog moved
We're moving our blog to the Shwachman-Diamond America website! Check us out over there! Shwachman-Diamond America Blog
Thursday, February 2, 2012
Shwachman-Diamond America Approves Additional Funding for the SDS Registry
The SDA board recently approved $7,000 of additional funding for the North American SDS registry. We received info on the registry and have paraphrased it below. For more information or complete details, please contact SDA.
The registry has identified more than 80 patients for the SDSR and has signed consent for more than 70, with data extraction and data entry in progress.
SDS registry projects for the upcoming year:
1) Continuing efforst to obtain medical records from enrolled patients.
2) Analyzing the data available thus far to define the clinical spectrum of presentation. The goal of the project is to improve diagnosis.
3) Analyzing the family history of patients with SDS to determine the clinical significance, if any, of being a carrier for the SBDS gene mutations.
4) Investigating the clinical spectrum and medical course of patients presenting with "clinically defined" SDS but who lack SBDS gene mutations. Also conducting studies to determine the pathophysiologic basis of disease in these patients.
Of note, these projects depend on increasing patient accrual over the coming year.
Just wanted to keep everyone up to date on what SDA has been doing.
Pattie Curran
President, SDA
The registry has identified more than 80 patients for the SDSR and has signed consent for more than 70, with data extraction and data entry in progress.
SDS registry projects for the upcoming year:
1) Continuing efforst to obtain medical records from enrolled patients.
2) Analyzing the data available thus far to define the clinical spectrum of presentation. The goal of the project is to improve diagnosis.
3) Analyzing the family history of patients with SDS to determine the clinical significance, if any, of being a carrier for the SBDS gene mutations.
4) Investigating the clinical spectrum and medical course of patients presenting with "clinically defined" SDS but who lack SBDS gene mutations. Also conducting studies to determine the pathophysiologic basis of disease in these patients.
Of note, these projects depend on increasing patient accrual over the coming year.
Just wanted to keep everyone up to date on what SDA has been doing.
Pattie Curran
President, SDA
Tuesday, October 25, 2011
CoRDS Rare Disease registry
Coordination of Rare Diseases at Stanford (CoRDS) registry. This registry is for patients with rare diseases. Click on the links below for more information on what the rare Diseases Registry is, how to participate and how to contact the registry.
The purpose of the Rare Diseases Registry is to facilitate research on rare diseases by providing a resource through which researchers can screen for prospective study participants.
CoRDS Cover Letter
CoRDS FAQ
Cords Registry The Power of Hope Flyer
The purpose of the Rare Diseases Registry is to facilitate research on rare diseases by providing a resource through which researchers can screen for prospective study participants.
CoRDS Cover Letter
CoRDS FAQ
Cords Registry The Power of Hope Flyer
Thursday, June 30, 2011
Shwachman-Diamond Syndrome Congress Day 2 and 3 notes
Day 2 and 3 of the SDS Congress were very scientific! Some data we cannot publish because the authors have not yet published! There are great things happening in Shwachman-=Diamond Research.
Wednesday begain with discussions on SBDS function. Most of it focused on the ribosomal subunits. The question, is SDS a ribosomopathy?, was the biggest topic of discussion on day 2 of the conference. 60 subunit biogenesis is affected. Researchers postulate that thee is an issue with making ribosomes and with their function.
The second part of the second day focused the function of SBDS in hematopoiesis and leukemia and we had the annual Jason Bennette memorial speaker who spoke about niche dynamics (the microenvironment of the marrow). The last part of the afternoon was dedicated to organ development and failure.
Vdac1 mitochondrial voltage gated anion channel. Thought to be a mito permeability pore. Do mito function properly in SDS? This was a question that was brought up.... and one I find interesting since my boys have been diagnosed with secondary Mitochondrial Disease.
A Doctor from Cambridge spoke and said that SDS is a disorder of ribosome maturation. This echoed earlier speakers.
Dr. Shimamura gave a talk on SBDS in ribosome biogenesis and mitotic spindle stabilization:
SBDS and mitosis. Increased incidence of abnormal mitotic cells. Cell eventually dies. Stabilization of spindles, improves hematopoiesis
We had a speaker who spoke about ADHD, but it was not specific to Shwachman-Diamond Syndrome or SDS studies. This was followed by several presenters who spoke about pancreas development with SBDS. Dr. Domain spoke about stem cell models of cardiac development and disease (not specific to SBDS). His presentation was excellent, even showed some of the cardiac stem cels in motion! Crontracting.
This morning (Thursday) we continued with organ development and failure. The focus was on skeletal defects and development of dysplasia.
Late morning discussions were aimed at using humn pluripotent stem cells in SDS, and the last speaker was Dr. de Figueiredo from Texas A & M and he spoke about the effects of HDAC inhibitors on disease models of Shwachman-Diamond Syndrome.
ADHD talk
4% of population affected
skeletal variability is quite large.
infancy and childhood delayed appearance f ossification centers
mid childhood slow dev of ossification centers.
osteoporosis
Wednesday begain with discussions on SBDS function. Most of it focused on the ribosomal subunits. The question, is SDS a ribosomopathy?, was the biggest topic of discussion on day 2 of the conference. 60 subunit biogenesis is affected. Researchers postulate that thee is an issue with making ribosomes and with their function.
The second part of the second day focused the function of SBDS in hematopoiesis and leukemia and we had the annual Jason Bennette memorial speaker who spoke about niche dynamics (the microenvironment of the marrow). The last part of the afternoon was dedicated to organ development and failure.
Vdac1 mitochondrial voltage gated anion channel. Thought to be a mito permeability pore. Do mito function properly in SDS? This was a question that was brought up.... and one I find interesting since my boys have been diagnosed with secondary Mitochondrial Disease.
A Doctor from Cambridge spoke and said that SDS is a disorder of ribosome maturation. This echoed earlier speakers.
Dr. Shimamura gave a talk on SBDS in ribosome biogenesis and mitotic spindle stabilization:
SBDS and mitosis. Increased incidence of abnormal mitotic cells. Cell eventually dies. Stabilization of spindles, improves hematopoiesis
We had a speaker who spoke about ADHD, but it was not specific to Shwachman-Diamond Syndrome or SDS studies. This was followed by several presenters who spoke about pancreas development with SBDS. Dr. Domain spoke about stem cell models of cardiac development and disease (not specific to SBDS). His presentation was excellent, even showed some of the cardiac stem cels in motion! Crontracting.
This morning (Thursday) we continued with organ development and failure. The focus was on skeletal defects and development of dysplasia.
Late morning discussions were aimed at using humn pluripotent stem cells in SDS, and the last speaker was Dr. de Figueiredo from Texas A & M and he spoke about the effects of HDAC inhibitors on disease models of Shwachman-Diamond Syndrome.
ADHD talk
4% of population affected
skeletal variability is quite large.
infancy and childhood delayed appearance f ossification centers
mid childhood slow dev of ossification centers.
osteoporosis
Shwachman-Diamond Congress Notes day 1
The first day of the Congress as very intereting. The first half of the day was on the Clinical features of Shwachman-Diamond Syndrome. Keep in mind that rhese are my notes from the Congress! I hope I got everything correct, but ..... if you'd like more specific info, please contact me.
Dr. Durie discussed pancreatic involvement in Shwachman-Diamond, the pancreatic phenotype.
A Shwachman-Diamond diagnosis includes bone marrow dysfunction, exocrine pancreas dysfunction. Must exclude other diagnoses and prove pancreatic dysfunction and bone marrow failure.
To assess the pancreas - stim test, 72 hour fecal fat, serum fat soluble Vitamns A, E and 25-OHD. Serum enzymes should be run, trypsinogen, isoamylase and fecal elastase is also helpful.
Can remove up to 95% of normal pancreas and still have normal function. A person can have 3% function in SDS and not require enzymes.... Have to lose 98% of function in SDS in order for pancreatic dysfunction to show up.
7% fat malabsorption is normal. Stim tests by endoscope should not be done. Too many false positives.
SDS consensus guidelines by Dr Kuijpers. Consensus doesn't mean everyone has to agree, but they understand they are on the same page. Must exclude CF by normal sweat test, have a cytopenia and exocrine pancreatic dysfunction. Neutropenia is the most common hematologic abnormality. Molecular diagnosis-SBDS gene mutation is helpful. Genetic testing has some pit falls. Neutropenia must be present 2 times in 3 months or hypo productive cytopenia detected in 2 occasions in 3 months. Pancreatic Insufficiency is diagnosed by fecal elastase, serum enzymes, etc. 10% of SDSers do not have SBDS mutations. Delayed umbilical cord detachment is common in Shwachman-Diamond.
Imaging in SDS - brain cognition, pancreas liver, heart gut. Abdominal CT is equal to radiation of 400 chest xrays
Hem abnormalities in Shwachman-Diamond by Dr. Shimamura
Marrow cellularity is patchy, so can be variable, so cellularity needs to be interpreted in conjunction with counts. Severity of BMF in Fanconi's we know:
Mild --- neutropenia 1000-1500 platelets 50-150, hemoglobin less than 8
MDS is defined cytogenetic clones and dysplasias. Males with Shwachmn-Diamond more likely to develop MDS. Can have MDS because of clones but without dysplasia. dr Shimamura calls MDS in Shwachman-Diamond high risk with increased blasts between 5 and 20 percent.
MDS in Shwachman-Diamond-mean age is 8 and for AML is 21. Male risk for AML is even higher than for MDS in Shwachman-Diamond Syndrome. Usually, we treat leukemia prior to transplant, but in bone marrow failure, it can cause more problems. It causes increased transplant morbidity in SDS so we have to be careful. In SDS cytopenias during Chemotherapy are prolonged.
What are early markers of elevated leukemia risk? Most common clones mono 7, i(7q) del 20q. No cases of i(7q) known to develop leukemia in Shwachman-Diamond.
Co morbidities in SDS transplant ....liver, cardiac, priorminfections, blood products. Dr. Shimamura said we could argue that all Shwachman-Diamond Syndrome could be low grade MDS.
Dr. Kerr- Understanding Neuropsychological Functioning in Shwachman-Diamond Syndrome. There is an article published that mentions Delayed myelination in Shwachman-Diamond Syndrome- KA Ida et al 2005 It had been demonstrated that individuals with Shwachman-Diamond are at risk for neurocognitive and neuropsychiatric issues. Most specifically, intellectual function. Weakness in visual processing and attention. And weakness in executive function.
Registry update. Approximately 90 patients in registry. (not exactly sure of the number-may have written down the wrong number) -- SDS-Like is now being called SDS indeterminate by the Shwachman-Diamond Syndrome registry folks.
101 Shwachman-Diamond patients entered into French registry (with SBDS mutations). They conclude that a profound cytopenia at baseline should be considered high risk of leukemia.
Dr.Rommens- genetics and disease models of Shwachman-Diamond.
Ribosomal diseases are SDS,DKC, DBA, and 5 q syndrome
Complete loss of SBDS is not compatible with life. It is essential for life. SBDS is expressed in all cells. Have produced mice which produce no SBDS protein.
Shwachman-Diamond is a ribosomopathy. Talk on Drosophilia fly by Dr Tan. SBDS is required for growth of the drosophila fly----
Talk by Elaine Provost saying Shwachman-Diamond is a p53-independent Ribosomopathy.
Dr. Durie discussed pancreatic involvement in Shwachman-Diamond, the pancreatic phenotype.
A Shwachman-Diamond diagnosis includes bone marrow dysfunction, exocrine pancreas dysfunction. Must exclude other diagnoses and prove pancreatic dysfunction and bone marrow failure.
To assess the pancreas - stim test, 72 hour fecal fat, serum fat soluble Vitamns A, E and 25-OHD. Serum enzymes should be run, trypsinogen, isoamylase and fecal elastase is also helpful.
Can remove up to 95% of normal pancreas and still have normal function. A person can have 3% function in SDS and not require enzymes.... Have to lose 98% of function in SDS in order for pancreatic dysfunction to show up.
7% fat malabsorption is normal. Stim tests by endoscope should not be done. Too many false positives.
SDS consensus guidelines by Dr Kuijpers. Consensus doesn't mean everyone has to agree, but they understand they are on the same page. Must exclude CF by normal sweat test, have a cytopenia and exocrine pancreatic dysfunction. Neutropenia is the most common hematologic abnormality. Molecular diagnosis-SBDS gene mutation is helpful. Genetic testing has some pit falls. Neutropenia must be present 2 times in 3 months or hypo productive cytopenia detected in 2 occasions in 3 months. Pancreatic Insufficiency is diagnosed by fecal elastase, serum enzymes, etc. 10% of SDSers do not have SBDS mutations. Delayed umbilical cord detachment is common in Shwachman-Diamond.
Imaging in SDS - brain cognition, pancreas liver, heart gut. Abdominal CT is equal to radiation of 400 chest xrays
Hem abnormalities in Shwachman-Diamond by Dr. Shimamura
Marrow cellularity is patchy, so can be variable, so cellularity needs to be interpreted in conjunction with counts. Severity of BMF in Fanconi's we know:
Mild --- neutropenia 1000-1500 platelets 50-150, hemoglobin less than 8
MDS is defined cytogenetic clones and dysplasias. Males with Shwachmn-Diamond more likely to develop MDS. Can have MDS because of clones but without dysplasia. dr Shimamura calls MDS in Shwachman-Diamond high risk with increased blasts between 5 and 20 percent.
MDS in Shwachman-Diamond-mean age is 8 and for AML is 21. Male risk for AML is even higher than for MDS in Shwachman-Diamond Syndrome. Usually, we treat leukemia prior to transplant, but in bone marrow failure, it can cause more problems. It causes increased transplant morbidity in SDS so we have to be careful. In SDS cytopenias during Chemotherapy are prolonged.
What are early markers of elevated leukemia risk? Most common clones mono 7, i(7q) del 20q. No cases of i(7q) known to develop leukemia in Shwachman-Diamond.
Co morbidities in SDS transplant ....liver, cardiac, priorminfections, blood products. Dr. Shimamura said we could argue that all Shwachman-Diamond Syndrome could be low grade MDS.
Dr. Kerr- Understanding Neuropsychological Functioning in Shwachman-Diamond Syndrome. There is an article published that mentions Delayed myelination in Shwachman-Diamond Syndrome- KA Ida et al 2005 It had been demonstrated that individuals with Shwachman-Diamond are at risk for neurocognitive and neuropsychiatric issues. Most specifically, intellectual function. Weakness in visual processing and attention. And weakness in executive function.
Registry update. Approximately 90 patients in registry. (not exactly sure of the number-may have written down the wrong number) -- SDS-Like is now being called SDS indeterminate by the Shwachman-Diamond Syndrome registry folks.
101 Shwachman-Diamond patients entered into French registry (with SBDS mutations). They conclude that a profound cytopenia at baseline should be considered high risk of leukemia.
Dr.Rommens- genetics and disease models of Shwachman-Diamond.
Ribosomal diseases are SDS,DKC, DBA, and 5 q syndrome
Complete loss of SBDS is not compatible with life. It is essential for life. SBDS is expressed in all cells. Have produced mice which produce no SBDS protein.
Shwachman-Diamond is a ribosomopathy. Talk on Drosophilia fly by Dr Tan. SBDS is required for growth of the drosophila fly----
Talk by Elaine Provost saying Shwachman-Diamond is a p53-independent Ribosomopathy.
Sunday, June 26, 2011
6th International Congress on Shwachman-Diamond Syndrome
The 6th International Congress is this coming week in NYC. I'll be posting my notes from the presentations. This is going to be a great week! Shwachman-Diamond America helped to fund the meeting (along with other organizations)and I can't wait to learn about the latest Shwachman-Diamond Syndrome research !
Wednesday, June 8, 2011
Saturday, November 27, 2010
Shwachman-Diamond Syndrome Fundraiser
I haven't done much fundraising for Shwachman-Diamond America this past year, so I've decided to donate all the proceeds from sales through my Stampin up! website from now through Christmas to Shwachman-Diamond America. Shwachman-Diamond America has done great things this year. SDA supported the North American Shwachman-Diamond Syndrome Registry whose website went live this year, they supported Camp Sunshine with a small donation, paid expenses for Dr. Harris to present grand rounds at Wake Forest, just approved an $8,000 USD research grant and approved a minimum of $8,000 USD to support the Sixth International Congress on Shwachman-Diamond Syndrome in NYC next year.
SDA would love to donate more to the Congress, but in order to do that, SDA needs to raise more money.
Please consider helping the cause. Stampin Up! Sells great scrapbooking, card making and crafting items. Their products make wonderful Christmas gifts, too! No special promotion code needed..... I will donate all proceeds from on-line sales now through Christmas Day to Shwachman-Diamond America. Just visit http://www.pattiecurran.stampinup.net/ Here's a picture of a card and matching luminary I made over Thanksgiving. I gave a set like this to a friend as a small gift and she loved it! You can learn to make the luminary on my video tutorial website Twosday's Techniques.
SDA would love to donate more to the Congress, but in order to do that, SDA needs to raise more money.
Please consider helping the cause. Stampin Up! Sells great scrapbooking, card making and crafting items. Their products make wonderful Christmas gifts, too! No special promotion code needed..... I will donate all proceeds from on-line sales now through Christmas Day to Shwachman-Diamond America. Just visit http://www.pattiecurran.stampinup.net/ Here's a picture of a card and matching luminary I made over Thanksgiving. I gave a set like this to a friend as a small gift and she loved it! You can learn to make the luminary on my video tutorial website Twosday's Techniques.
Thursday, November 25, 2010
Nov/Dec 2010 Shwachman-Diamond America Newsletter
http://www.shwachmandiamondamerica.org/cgi/wp/wp-content/uploads/2010/11/sdanews-nov-dec-2010.pdf
The Nov/Dec 2010 Shwachman-Diamond America Newsletter. Lots of great stuff happening!
If you'd like to see the past 3 years (19 total issues!) of the SDA newsletter, please go to this link to read them all:
http://www.shwachmandiamondamerica.org/newsletter.html
The Nov/Dec 2010 Shwachman-Diamond America Newsletter. Lots of great stuff happening!
If you'd like to see the past 3 years (19 total issues!) of the SDA newsletter, please go to this link to read them all:
http://www.shwachmandiamondamerica.org/newsletter.html
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes
http://www.impactaging.com/papers/v2/n11/full/100235.html
Full text Article available at this link above
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes
Abstract
Telomeres, the nucleotide repeats and protein complex at chromosome ends, are required for chromosomal stability and are important markers of aging. Patients with dyskeratosis congenita (DC), an inherited bone marrow failure syndrome (IBMFS), have mutations in telomere biology genes, and very short telomeres. There are limited data on intra-individual telomere length (TL) variability in DC and related disorders. We measured relative TL by quantitative-PCR in blood, buccal cells, and fibroblasts from 21 patients with an IBMFS (5 Diamond-Blackfan anemia, 6 DC, 6 Fanconi anemia, and 4 Shwachman-Diamond syndrome). As expected, TL in patients with DC was significantly (p<0.01) shorter in all tissues compared with other IBMFS. In all disorders combined, the median Q-PCR TL was longer in fibroblast and buccal cells than in blood (overall T/S ratio=1.42 and 1.16 vs. 1.05, p=0.001, 0.006, respectively). Although the absolute values varied, statistically significant intra-individual correlations in TL were present in IBMFS patients: blood and fibroblast (r=0.66, p=0.002), blood and buccal cells (r=0.74, p<0.0001), and fibroblast and buccal cells (r=0.65, p=0.004). These data suggest that relative TL is tissue- independent in DC and possibly in the other IBMFS.
Full text Article available at this link above
Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes
Abstract
Telomeres, the nucleotide repeats and protein complex at chromosome ends, are required for chromosomal stability and are important markers of aging. Patients with dyskeratosis congenita (DC), an inherited bone marrow failure syndrome (IBMFS), have mutations in telomere biology genes, and very short telomeres. There are limited data on intra-individual telomere length (TL) variability in DC and related disorders. We measured relative TL by quantitative-PCR in blood, buccal cells, and fibroblasts from 21 patients with an IBMFS (5 Diamond-Blackfan anemia, 6 DC, 6 Fanconi anemia, and 4 Shwachman-Diamond syndrome). As expected, TL in patients with DC was significantly (p<0.01) shorter in all tissues compared with other IBMFS. In all disorders combined, the median Q-PCR TL was longer in fibroblast and buccal cells than in blood (overall T/S ratio=1.42 and 1.16 vs. 1.05, p=0.001, 0.006, respectively). Although the absolute values varied, statistically significant intra-individual correlations in TL were present in IBMFS patients: blood and fibroblast (r=0.66, p=0.002), blood and buccal cells (r=0.74, p<0.0001), and fibroblast and buccal cells (r=0.65, p=0.004). These data suggest that relative TL is tissue- independent in DC and possibly in the other IBMFS.
Friday, October 29, 2010
UK Boy with SDS Headed to Transplant
This is a newspaper article about a boy in the UK who is headed for bone marrow transplant. Kane Prepares for Transplant
Friday, May 14, 2010
Shwachman-Diamond Syndrome Registry Website up!
The North American Shwachman-Diamond Syndrome registry website is now up and running! Check it out: http://www.sdsregistry.org/
Wednesday, January 13, 2010
Saturday, November 28, 2009
New Shwachman-Diamond America eNewsletter Nove-Dec 2009
The November-December Shwachman-Diamond America newsletter has been uploaded to the Shwachman-Diamond America website.
For more information on Shwachman-Diamond Syndrome, see the Shwachman-Diamond America website.
For more information on Shwachman-Diamond Syndrome, see the Shwachman-Diamond America website.
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