About The Disease

 Currently, the ONLY true diagnosis is Inheraited Bone Marrow failure called Shwachman-Diamond( but they are looking at this as several other ones are close to it, doesn't change anything)  an Immune Disease( PIDD). We are not 100% certain it is SDS but if it isn't, it would be one close or a mutation of it, so than it would still be the same. In Germany, they have found just an explostion of close diseases that may end up having our Genes and therefore, we still call it SDS as their records indicate but all the doctors in the field are waiting on new mutations and diseases to fit many families who did not seem to fit into one disease perfect or like us, have several diseases that are rare which may end up falling under one diseases not yet or soon to be discovered. It doesn't change the fact that they have all the problems but every parents wants to be sure their children are diagnosed right. In rare diseases, that are being discovered, we could end up finding that we and maybe two other families match or we and 200 families match. It's a start and something we are glad were doing.

Shwachman-Daimond Syndrome is a panreatic insuffiency disease which can include many other organs as well.The pancrease often by age 8 has stabilized.  The main componet is neutropenia, low whilte blood counts for bacteris. It can also cause low lymphocytes, which is viral fighting cells. It can effect red blood cells and eventually platlets which leads to Aplastic Anemia. Bone Abnormalities can also be associated with SDS. These are some of the main disorders but there are a wide range of other's that are common as well. These include Failure to Thrive, Liver, Kidney, Teeth-cavities and gum disease, as well as GI issues.as well as extreme mouth sores.  In SDS so much is or can be involved. There can be mental and behavior issues such as learning disabilities, ADD, ADHD, OCD and even mental retardation but they can also be intelligent without delays or have normal to even high intelligence but have behavior issues. Many with SDS may have a difficult time leading a normal life. Some are in special needs classes or homeschool due to days missed from illness and doctor appointments. There currently is no cure as there is differing approaches as to how or when to do a bone marrow transplant. Some feel the younger the better while other's take a more conservative approach. There are often several other bone marrow failure syndromes that can resemble or be mistaken for Shwachman-Diamond Syndrome, therefore further complicating and causing risk. SDS patients marrow tends to show low cellularity as well as blood lines effected. Also, there are clones assocaited with SDS, such as 20Q deletion, Trisony8 and 7q deletion. These can be seen and watched to see if the increase which most doctors agree at thet time, transplant is the best next step. There are some who also have some kind of immune defiency disease as well and can be treated with IVIG or Sub Q IGG. Also, for severe neutropenia, GCSF or neupogen is a drug given to increase the neutrophil count and can help, even if chemotaxis is present. The benefits  for GCSF must out weigh the risk. So much litature has been written, yet so much can oppose or change and since so few are in the field of study, it is the sad truth that the children and pateints now are the ones who indeed hold hope for the future generations. In the years I as a mother have had my three kids, I have had several misdiagnosis and have watched treatments, including transplant change and myself at any given time can find one doctor who will say to take them to transplant while another will say not too. It is clear to many of us who have been around long enough, they honestly do not have the answers and are watching our generation to see what treatments work and what doesn't. Still, with each passing year, there is hope that someone, somewhere, will finally hold the key and unlock the cure to this disease or ones similar to it and help these pateints and their families. Until then we have HOPE!

   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 Shwachman Diamond Syndrome 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 Shwachman Diamond Syndrome, though all blood cell lines may be affected.  Anemia and Platlets are also common in Shwachman Diamond Syndrome 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.    

To learn as we did, after knowing deep inside something was wrong, that your entire family is sick with a deadly disease and at that time, many died young, was difficult. I can recall though a peace that washed over me, I was sitting in the car waiting to do a Valentinies Party for my daughters and sons party. I sat out, thinking of Samuel, knowing Jake had this too. I just felt that they were in God's hands and we would take one day at a time. I remember thinking if God took them home before us, we would work with sick children left behind without parents. As a child of God, He has a way to allow one to cope and see that life is just a flash, our goal was to raise children with God in their hearts because nothing here on earth stays the same, everything changes and oneday, that includes death. It is eternity that we would work for and that has remained our goal.   

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

PIDD Primary Immune Defiency Disease has over 100 and can be mild to severe. Moany wih mild may take IGG and some tht seem more severe my not. It is odd. Our three kids to indeed take IGG weekly and has keep them very healthy, all but the C-Diff battle that any normal person could have lost.

Multicystick kidney Disease, we once thought this was alone by itself, or so the doctors did. My husband and I never did and our daughter is doing really wonderful but we have to get her a few opinions as the two we have thus far are conflicting. One says her kidney is over enlarged and attaching to orgrans, otheres say it is her Uterus which was cleared every six months, so we don't that is the reason. It is so hard to take care of all of these things, when money is forever tight. Samuel needs to see the Jaw doctor again and has a paraiste.

I any case, we see the interest taking off and we believe a cure will soon follow, until then, we are asking God to remove obstacles and show us our path. We are ready and have been for a long time. Hopefully this new laws will help some but we belive most will hurt. Yet, God has proved if we are faithful to Him. He is our doctor and He promises us we need not worry for he knows every hair on our heads and His love is greater for us that we can imagine for our kids. Our children are a loan, they are His.