About The Disease

  Many people have aske d just what this disease is and probably the number one comment made,is they look pretty normal. Like with many diseases, the way a person looks, has absoultly no impact on the way the disease course will take. Just as many people walk around with cancer,aids and other immune and blood diseases, don't look abnormal,  the sameis true for our kids and most SDS kids. If you saw them when they get sick or spend a month with them and see the energy level and amount of aches and pain with sleepless nights, more would likely understand. Just like with Cancer or Aids, until the end or in treatment with chemotherapy drugs , do they "look" sick. You cannot see their blood or bone marrow. Many SDS kids look small like mine, a bit skinny. Many look even smaller but stay healthier than ones I know who are actually heavy set. The "book " was written in 1964 with little knowledge and few participates. We have learned through the years many different syntoms and people can have one thing that another does or doesn't have. That is what a syndrome is: Common and uncommon syntoms. The main common issues are generally there, neutropenia, immune dysfunction, small or failure to thrive as well as pancreatic insuffiency but many others have intermintent neutropenia, no failure to thrive and normal pancreatic issues but may have GI issues or liver issues. Below is the common forms seen and recorded. Much more is being learned and recored. Our prayer is one day we won't put a child in a box and if they don't fit perfectly, we will have an expanded box. My kids have much listed but even withen my three they have differences of severity from one to another.                                  

Shwachman-Diamond America.org

   Shwachman-Diamond Syndrome (SDS), first described in 1964, is a rare ,genetic(autosomal recessive),multisystemic disorder affecting the pancreas,bone marrow, and skeleton.  The most common symptoms are pancreatic dysfunction(malabsorption), low neutrophil count and short stature.  Other organs may also be involved in some SDS patients.  Shwachman-Diamond Syndrome affects people differenly and people with SDS have all of these symptoms. 

  The Pancreas fails to produce the enzymes essencial to digest food properly.  Because of the exocrine pancreatic dysfunction (malabsorption), the child does not absorb enough nutrients, most commanly the fat-soluble vitamins, to grow and develop normally.  Oral enzyme replacement therapy helps these children to digest their food, but many still need to take special vitamin supplements. Improving nutritional status does not necessarily improve the growth of children with SDS.

The bone marrow, where the blood cells are produced, is also affected in Shwachman- Diamond Syndrome.  White blood cells, which fight infection, are most commonly affected.  Neutropenia is the most common hematological abnormality in SDS, though all blood cell lines may be affected.  Anemia and Platlets are also common in SDS patients.  Because of the bone marrow dysfunction, these children are at greater risk of developing life-threatning infections. Shwachman- Diamond patients are also at a higher risk for developing Myodysplastic Syndrome, Aplastic Anemia and Acute Myliod Leukemia  Bone marrow transplation is the only known cure if this happens. It is a hard treatment chioce since for unknown reasons multiorgan failure may occur in up to 50% of patients.   GCSF is a medication that can help boost neutrophil counts but are not highly recommended to SDS patients due to unknown reasons it may increase the onset of luekemia.  Although many do use the injections.  Also IVIG ( introvienus immunoglobulons) are often used.  These patients take many costly treatments and medications.   Transplantation of the bone marrow can fail in some reported studies up to 70% and the amount of years post transplant has not been determined but many die within five years even post transplant due to complications. Currently, at Cincinnati Children's and a few other hospitals the move to reduced intensity Chemoterapy is what we are holding our hopes for better and longer life spans. At this time, it is the children and young adults who are the test patients and hold the hope for a brighter tommorow.  This is a difficult disease to diagnosis and to treat. It carries with it great strain on the families and patients that endure it.      

We have been in a few studies through Cincinnati Children's in conjunction with the Children's Hospital in Toronto Canada where much of the SDS disease reseach began and continues as well as in other countries.  We participate for the hope that it may help our kids but know that in the future maybe parents won't have to go through as much and for the biggest HOPE of all, A CURE !

shwachmandiamondamerica.org.

This is a support group that anyone can join to learn more about SDS and even talk daily with other families suffering with this disease and all the issues that surround it.   

                                    NEUTROPENIA

 Neutropenia is a term that describes the white blood cells that are responsable for fighting bacterial infections.  Our bone marrow produces three cell lines that make up our blood.  Red blood cells, White blood cells, and Platlets.  The white blood cells help us to fight infection. Neutrophils make up the biggest part of our total white blood count.  They fight bacterial. Lympocytes, are the next bigger part and fight viruses,  Monocytes, are a much smaller part of the white count and they too fight bacteria,  Eosonphils and Basophils are little parts and little is known of their part.  Eosonphils are thought to fight allergies.  Normal neutrophil counts are between 2000-8000.  Anything below 1500 is considered neutropenic.  Moderate neutropenia is between 500-1000 and severe neutropenia is any thing below 500.  When a person fails below 500, they are at great risk for develoing life-threatning infection. There are several catagories of Neutropenia:  Kostmans Syndrome, Shwachman-Diamond Syndrome, Congenitial Immunologic Deficiency, Myelokathexis Syndrome, Glycogen Storage Disease Type 1B.

Grace and Samuel both who require GCSF{Granulocyte Clononizing Stimulating Factor} Neupogen injections have recieved this medicine from the Severe Congenital Neutropenia Registry in Seattle Washington. This is really where we started when Grace was 18 months and we thank God for this, since this drug DAILY is $380.00 times TWO! Plus anytime Jake needs it. We have been in this study since then and try to make it to both Seattle for Conferences as well as the Shwachman-Diamond Conferences which are held one year here and one year in Europe.

www.neutropenianet.org. Is a support and resource group with lots of information.

                       Inherited Bone Marrow Syndromes

  Inheriated bone marrow syndromes(IBMFS) are rare disorders in which there is usually some form of aplastic anemia(failure of the bone marrow to produce blood),associated with a family history of the same disorder.  Patients with these syndromes have a very high risk of development of cancer(either leukemia or certain solid tumors)  IBMFS disorders include:  Amegakaryocytic Thrombocytopenia, Diamond-Blackfan  Anemia, Swachman-Diamond Syndrome, Anemia Dyskeratosis Congenita, Fanconi's Anemia, Pearson's Syndrome, Severe Congential Neutropenia, Thromocytopenia Absent Radi, and this is not all.  There are even obscure bone marrow diseases and Neutropenia's. 

   Currently, my children as well as many others are in the National Institute of Health, National Cancer Institutes study on all types of genetic syndromes, including ones not yet named or discovered but in hopes of learning more about why these diseases have such high risks for cancers and leukemia's.  

Several factors can be concered abnormal in the marrow. The cellularity percentage. In kids it should be between 80-90% In Jake his has been and hovers around 30-40% Grace 10-25% and Samuel 20-30% this must be watched as well as level of blasts in the marrow. If blasts climb to 20% this means leukemia. If Clones appear, expecially ones assoiciated with SDS and Acute Myloid Luekemia like 7Q, 20Q deletion, Monosomy 7 or Trisomy 8 and they increase for a few marrows, then you know it's time to head of leukemia as it's not will it come but when. Then the worry of Aplastic Anemia is when all three sell lines start to fail and depeding on the doctor/parent heading of before any transfusions are needed is usually the best due to the more transfusions, the graeter risk for failure in transplant. My kids have had all the clones but not to a high enough level more consistently. They have white blood cell and red blood cells failures but not to the oint of transfusion, at any time, anyone of them could develop any of these issues as they can appear so fast. We feel we have a better understanding and will be on top and watching for any little thing to be off and then be sure we are doing the right thing going to transplant. If we wanted to proceed since we know one day, this will happen, we could but the risk of failure is so high, the more time we buy, the greater chance of learning and hoping for better treatments as well as the chance God could heal. We also know some who have made it into thier 20's and a few into their 30's. While they may not have had the marrow issues ours have, we just don't know and our hope is in keeping and enjoying everyday we do have without transplant unless or until, we know deep down, we must go. Our kids aren't healthy and we know one severe infection could take them out but we are very aggessive with any small thing and treat it aggresively as well. Please pray for us to know when and to have peace, above all pray for a cure or a miricle.  Thanks, Mom to these wonderful blessings and gifts.    

                                  Immune Defiencey Disorders

With my kids as well as many other Shwachman-Diamond Syndrome patients, immune issues can also arise and cause not only hemological{Blood and Marrow problems} but Immulogical issues. T-cell, Nk cell, B-cell, and immunoglobulin defiency's and lack of proper function can also occur. They can have some or all or none. Lack of ability to hold vaccinations can pose even greater risk to these children. 

My kids have some of these issues as well and the IVIG or Introvenous Immunoglobulin Therapy or Sub Q Igg can hold such promise as this provides some defence of immune response to such diseases they may have no response for. IVIG is blood plasm and it can take many donors, hundreds to produce this blood bi product. Such names as Gamma Gaurd and what my kids now take, Vivaglobin can make a great difference in catching viruses as then going into bacteria infections. This give my children more energy and an overall feeling of well being. We are so grateful to recieve this at home and are praying our insurance will continue to pay as without it, expecially for Grace, it could be deadly.