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Our kids were born with a very rare Inheriated Bone Marrow Failure Syndrome,  Shwachman-Diamond Syndrome. They each have other health prolems but this is the one they share. It is an awful disease and because of their other rare problems, their life expantcy isn't thought to be past their thirties. Our oldest son is fighting for his life and we are seeking care but limitations with finances have restricted that as well as finding someone who is familiar with such vast healthcare issues and age differences. Jake, has a feeding tube and no one has been able to help his unabilty to maintain weight or extreme stomach pain.  Grace, has one kidney(multicystic kidney disease and uterus iddelphys) PIDD and this puts her at a greater risk but she is doing well so long as she keeps up with the weekly infusions. Samuel, SDS and PIDD is doing fairly well but it's not easy to watch your older sibling suffer with the same disease you know you have. A bone marrow transplant is the only cure but it isn't something you enter into lighlty. Unlike, other leukemia's, SDS and IBMF diseases run a much higher risk for death so it is the last resort before one develops Acute Myloid Leukemia or Aplastic Anemia. These kids have come close to death several times in their life. They are truely miracles each day we have with them.

Shwachman-Diamond is an Inheriated Bone Marrow Failure syndrome. The differences betweeen these diseases are often subtle to vast. We have not had all the testing done to rule what they know on SDS. There are many families with more than one child that, like us, have kids without the gene. We are called SDS-Like. The reason is, we all seem to show so many similar issues within the blood and marrow. Just our three kids look very close in their blood and marrow. They have very low celluarlty which is what we were told to watch for so we can avoid leukemia. That seems to vary between hospitals. There are so few doctors in this area who know anything about these diseases that it makes it very difficult. Thus, we, their parents want more diagnostic testing to confirm their diagnosis as testing advances. Again, we know it's Inheriated Bone Marrow Failure, so we know it's one of these diseases or our kids are very rare and have a disease of their own.

Fanconi Amemia is another inheriated bone marrow disease in that is under the umbella of IBMFS. We are still learning more about this disease and it's impacts. Type C is the worst type and the life expancey for that is about 30 years. We focus on life as much as we can and not on death. Our faith is strong and our kids know who they are in Him.

 

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 

Primary immunodeficiency diseases (PI) are a group of more than 250 rare, chronic disorders in which part of the body’s immune system is missing or functions improperly. Because one of the most important functions of the normal immune system is to protect us against infection, patients with PI commonly have an increased vulnerability to infections, which can be recurrent, unusually severe, or won’t clear up. People with PI can face frequent health problems and often develop serious and debilitating illnesses.

 

While not contagious, these diseases are caused by hereditary or genetic defects, and although some disorders present at birth or in early childhood, the disorders can affect anyone, regardless of age or gender. Some affect a single part of the immune system; others may affect one or more components of the system. And while the diseases may differ, they all share one common feature: each results from a defect in one of the functions of the body’s normal immune system.

Years ago, a diagnosis of a PI meant extremely compromised lives, not just for the patients but for their families as well. Today, with early diagnosis and appropriate therapies, many patients diagnosed with a PI can live healthy, productive lives.

The Immune Deficiency Foundation (IDF), founded in 1980, is the national non-profit patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with PI through advocacy, education and research. There are approximately 250,000 people who are diagnosed with PI in the U.S., and thousands more go undetected.

Individuals affected by PI often find it difficult to receive proper diagnosis, treatment and specialized healthcare. IDF estimates that the average length of time between onset of symptoms and diagnosis is between nine and 15 years. Patients also experience difficulties financing their healthcare, finding educational materials on the disease and locating others with whom to share their experiences. IDF helps individuals overcome these difficulties.

Multicystic Dysplastic Kidney

Multicystic dysplastic kidney is a common condition that occurs when one kidney doesn't get put together correctly as it's forming in the womb. The kidneys begin to develop at around 5-6 weeks gestation, and the process by which they form is complicated. If something goes wrong during development, it is possible to end up with a non-functioning kidney full of cysts and scar tissue. Fortunately, the remaining kidney is usually able to take over all kidney function.

If both kidneys are affected, a spontaneous abortion would occur. This is because the kidneys are responsible for the production of amniotic fluid which is required to maintain a normal pregnancy. Amniotic fluid is also important for proper lung development.

Multicystic dysplastic kidney is thought to affect 1 in every 3,500 people, but that number may be higher because some people who have it are never diagnosed with the condition.

There are rare cases when multicystic dysplastic kidney runs in families because of a genetic trait. However, the vast majority occur as a sporadic event. The proper formation of a kidney is complex with hundreds of thousands of steps that must execute correctly. If there is a hiccup in just one step, an abnormal kidney may form. Some studies suggest certain viral infections and some drugs might also play a role if exposure occurs at a critical stage of development.

 

 

Uterus Didelphys

a female fetus, the uterus starts out as two small tubes. As the fetus develops, the tubes normally join to create one larger, hollow organ — the uterus. Sometimes, however, the tubes don't join completely. Instead, each one develops into a separate structure. This condition is called double uterus (uterus didelphys). A double uterus may have one opening (cervix) into one vagina, or each uterine cavity may have a cervix. There may even be two vaginas.

Double uterus is rare — and sometimes never diagnosed. The percentage of women with a double uterus is likely higher in those with a history of miscarriage or premature birth.

Treatment is needed only if a double uterus causes symptoms or complications, such as pelvic pain, repeated miscarriages or preterm labor.

 

G Tube-

Your child has had a tube placed in his / her stomach called a gastrostomy tube or G-tube. This tube provides another way to offer food and / or medicines. It also can be used to vent your child's stomach for air or drainage.

When the tube is first placed in your child's stomach it may or may not be secured with a stitch through the skin and around the tube. This helps the tube stay in place until the gastrostomy tract is well healed. If your child has a stitch around the tube, healing takes place in about 21 days. A tract will form between the stomach and skin in about three months. Your doctor may talk to you about changing the tube at this time.

It is important to know what type and size tube your child has. 

  • Brand of G-tube
  • Size of  tube (Fr)
  • Length of tube (Cm)

 

C-Diff

The average human digestive tract is home to as many as 1,000 species of microorganisms. Most of them are harmless -- or even helpful -- under normal circumstances. But when something upsets the balance of these organisms in your gut, otherwise harmless bacteria can grow out of control and make you sick. One of the worst offenders is a bacterium called Clostridium difficile(C. difficile, or C. diff). As the bacteria overgrow they release toxins that attack the lining of the intestines, causing a condition called Clostridium difficilecolitis.

Though relatively rare compared to other intestinal bacteria, C. diff is one of the most important causes of infectious diarrhea in the U.S.

 

Symptoms of C. diff

C. difficile infection can range from mild to life-threatening. Symptoms of mild cases include watery diarrhea, three or more times a day for several days, with abdominal pain or tenderness.