Shwachman Diamond Syndrome is a bone marrow failure and pancreatic insuffiencey disease. Like other bone marrow diseases, it can effect any organ, eyes, skeletal deforminties, defiencies, liver, pancreas and so on. The Blood cells can be effected, as in our case, severe neutropenia(white blood cells) red blood cells and platlets can become low and leaves one with risk of infection, low energy and easy bleeding. They are at risk of overwhelming infections as well as MDS and AML acute myloid leukemia as Aplasitc Anmeia. More is talked about this on the Disease Link. This is what they are diagnosed with.
SDS is associated with other diseases we are trying to rule out like Mitochondrial diseas. We have been made aware that a high rate of SDS patients have dysautonomia pots syndrome and seizures. We are just learning more and more from other families and given we have three children all with different rare diseases, it's difficult. We hope whole genome will clarify their diseases and the ones I have which are more immune. We do know that SDS is auto recessive meaning it was a one in four chance and Chris and I each had to give one bad gene to have a child with SDS. We of course, didn't know and in fact, were told that Grace had Autoimmune Neutropenia and would outgrow it. That there was no way it was genetic and she had no immune disease like her mother. She did and they were wrong, sadly. My intuition and hours at research libraries, finally paid off but not the way any mother or famil should find out.
Inherited Bone Marrow Diseases
This is a list of all the genetic bone marrow diseases, including Shwachman-Diamond. Sometimes we wonder if they really know the differences between them all. Of course, there are big differences between some but yet similarities. The NIH and Dr. Blanch Alter has been studing these diseases for a long time now. There is no doubt that our kids have this. Their bone marrow exhibts all the signs and as such, this is one of the key studies. The two main groups that's research has been finding the differences and causes of such disease's are the NIH and the SCNIR(severe conginitial neutropenia international registry)Listed below.
Severe Congenital Neutropenia:
This is also a umbella name covering neutropenia related diseases which some cause bone marrow failure. The Severe Congenital Neutropenia International Registry is another study that our kids are in like the one above, the strive to gather information and research to find other genetic genes resonsible. As such, they have found through Germany, a few other genetic diseases and thus the research is important.
This is another inheriated bone marrow diseases. The symtoms that run with Fanconi's are similar in the bone marrow as all the inheraited marrow diseases. Why, this wasn't cuaght may have more to do with me and the way I looked at things and other parents I became close too. We look at it now and wonder how we could not have seen this. I do remember fighting the feelings that this was it since it is a far worse disease than Shwachman-Diamond Syndrome but with one kidney, uterus issues, Vitamin D defiency, extreme GI related diseases and problems, failure to thrive and bone abnormalties. Some of these are the same as SDS. The big difference is, this disease is very bad in that a transplant can happen but the patients is also over 600 times more likley to develop a solid tumor cancer in addition to leukemia or Aplstic Anemia. I think on this and that wasn't something I could have dealth with after finding that all three had a bone marrow disease. So now, we embark on yet another journey. Right at this moment we have so many issues to tackle. C-Diff and Jake is losing the battle in fighting this off. Grace has her attachment to her kidney and Samuel has C-diff as well. We are saddened that still we do not know what our kids have but FA is becoming the likely canidate and we are speaking with doctors around the world.
Shwachman-Diamond Syndrome Foundation
This is the organization for Shwachman-Daimond Foundation Links which include, research on the disease, panel of doctors, board of directors and fundraising for research of the disease. It can also tell you where and how to donate bone marrow and support groups online. It is a wonderful group and has been around the longest. They take Neupogen injections to keep their bacteria fighting cells. Average lifespan 30 years. A life ending disease.
Primary Immune Disease
This is a name that cover's over 100 different disorders of the immune system. http://www.primaryimmune.org/about_pi/about_pi.htm This explains what disease they think our kids may have. There is so many and we hope to narrow down to the one we have. Our kids take Sub Q IGG to help them with there disease and keep their immune system in shape. Without the IGG, they get sick often.
Multicystic Kidney Dysplasia
This is what Grace was born with but until she was here, we did not know if she would have either kidney functioning. We were blessed that her left and only kidney has thus far been fine. We keep a watch on it as it is large and can press against organs as well as other infection risks. She did start to develop several infections over the last year but seems fine and we are paying attention.
Uterus didelphs is a double uterus, cervix and sometimes a double vagina but Grace has the first two. She went to the best hospitals in the US but Thisbe went undetected until she was 14. Again, with one kidney and her bone marrow failure disease we are talking rare!
Crohns disese Was diagnosed in Jakeb and is severe. He had a g tube and is taking all his feedings Vital 1.2 through it. After four years of being bedridden and angry with the lack of diagnosis, Mission in Asheville found his problem. He had CDIFF as did I and we both almost died but fecaltranspkants in New York saved us. He is finally living life without daily unbearable pain. He still had pain and bad stomach issues but is the toughest man I have ever known! I'm so proud of him and while his marrow is weak and we know he needs a transplant but the doctors don't think he could survive, he would kick its ass!
Possible diseases we may have and many in the SDS community are being diagnosed with. Many believe their child had it before they passed away and wasn't caught. Out kids haven't been tested for these yet or diagnosedbut we will rule them out.
Mitochndrial disease is rare and results from failures of the mitochondrial, specialized compartments present in every cell of the body(except red blood cells) Parts of the body such as the heart, lungs, brain and muscles that require the most energy are the most affected. Seizures, strokes, severe development delays, inability of talk, walk, see or digest food combined with a host of other complication she makes this alone, a horrific disease. Combined, it is cruel. We pray we don't have this but we know many who have it or developed it too.
Dysautonomia is a new disease which isn't life threatimg like Shwachmandiamind and can be managed and people can live normal lives. POTS for short is a disease that has many signs and symptoms from abnormal heart rate, fatigue, some neuropathy, headaches, coldness, nausea, excercise intolerance, diminished concentration, shortness of breath and chest pain. Since it has so many over lying symptoms it has been overlooked or often misdiagnosed only to find SDS patients suffer from it along with the many obstacles of SDS.
I am not yet a doctor but I have dreamed of being one just to help other mother and patients who have immune diseases as I do believe Primary Immune Deficeincy runs in SDS, which is not an immune disese but involves the immune system. I have Hashimotois Thyroiditis and Positive ANA, suggestive of Lupus. Been told Lyme disease and a host of many other diseases but I thankfully don't have the Inheriated bone marrow failure disease or I would have already bee dead. My children are brace as all these who have SDS are. I do think that the immune diseases we share as mother and child, continue to grow and more and more are accumulated. We have three children with a wide variety of strange mind blowing awful rare diseases and yet my family have not been evulauted by the NIH when others with much healier children that do not have siblings have been siblings have been. My husband and I have never even had a bone marrow biopsies done when our children have had hundreds a piece done. They have all nearly died and yet they are alive but for how long?
This is not about attention but sadly that is what it takes. We do not want to wait and see what illness gets us next. We know our children may never be helped but look at this extrodiany family and try to learn from us so this never happens again.
I was bright and well educated but too passive and polite. I have learned to advocate for my children when my own health isn't great. Stress can wear you down along with bills and my kids believed me when I told them I would find help. That is all we want, help. We haven't sued the many doctors who deserve to be because we want help.
This is is the only way I know and I have keep logs and records from the day they were born until now.
Things we tried for weight gain
ScandiShake is a calorie rich drink for those who have failure to thrive or Pancreatic issues. They lack the enzyme to break down the fat in the pancreas, this causes lots of greesy and bad smelling stools and/or fat in the stools. These shakes help to replace the calories in fat that is needed. They do carry enzymes but we have found Creon works best for us.
http://emedicine.medscape.com/article/1116574-overview Glycogen Storage Disease, is a disease we oddly thought about early on. I did some research but so much has happened with these seven subtypes. It too can be a Bone Marrow failure disease and is also a Metabolic disorder which we know Jake has some kind of metabolic disease, which will run with the disease they truly have. SDS has pancreatic insufficiency which the pancreas doesn't have the enzyme needed to break down fat and thus it fits Jake in that regard but the cure to that is enzyme replacement, yet he isn't responding. We also worry that since I had trouble with my pancreas(mom) maybe he had something close or even his liver is involved as all of them, the boys seem to often have blood work off on the liver.
Hyperemesis-gravidarum is a morning sickness like no other. I had this with Grace the worst, losing so much weight and cause for much discussion with doctors after finding one kidney and my aving this, to terminate the pregnancey. We were followed by a Perinatologist throughtout the remainder of my pregency and again with Samuel as they did 13 ultrasounds on both of the yoger two. I had a milder case with Jake but I also developed hyperthyroidism and when he was 10 months had part of my thryoid . This condition was not widely known and I instead suffered a great deal, feeling as if I were not tough enough. I have never been so sick in ALL of my life than the first few months of my pregnacey. It felt as though I was on a Meri-go- round tat would never stop. When they would say it will go away by five months, I would hold on and thankfully by six months as was no longer so sick and gained weight. Grace was my largest baby, weighing 7 pounds 2 ounces! Not knowing weather her left kidney would function or if she would die within a few days of her birth was the worst part of the entire ordeal. She and I bonded and we fought with Christ and to this day, I believe God will honor my decision to keep my baby and He will bless her and keep her all of her days. She is strong and all of my kids are so tough. I used to view illness as weakness but my children taught me that I was wrong, it takes a very strong person to endure illness and pain. There is no glory or recognition here on earth but in heaven my children will be honored.
Primary Immune Defiencey Disorder results when one or more essentail parts of the immune system is missing or not working properly at birth because of a genetic defect. Since the immue system is tremendously complex, hundreds of things can go wrong during development and sometimes the backup system cannot compenstate for the defects. There are hundreds of these diseases and PIDD is a broad name. We still do not know which one of these hundreds of disorders our kids have. It takes many tests and thousands and thousands of dollars and time to find the exact disease. However, we know IGG works on the kids. We do know that our kids ca't hold vaccinations and thus must recieve IGG for life.
Camp Sunshine is a wonderful Camp located in Lake Sebago Maine and offers a relaxing getaway free of charge with full accomadations complete with indoor pool, mini golf, canoes and paddle boats as well as activities and crafts. The have a wonderful outdoor challenge course in a gorgous setting. It is a Camp offered to any diseases that have a life-threatning disease and offers an oppurtunity for kids to know other kids and families to met with each other as well as a conference meetings supported by the SDSF with a panel of expert doctors. It has been such a blessing to our family and many sessions other than SDS which is every other year are held for other disorders.
A positive ANA has come back 6 times on me so it seems it is true. It can be Lupus or another Autioimmune disease, though Lupus seems probable. Here are some links:www.lupus.org.
www.mayoclinic.org look up Poitive ANA
Below, is a store that often pops up and continues to be written that I do not want this here. This is a free site for people to use and it isn't professional. It has safety features but isn't hard to break into. In any case, I don't mind it here and can only tell you it is another families web page whom has two boys with SDS. She runs a group, I am not a part off but I do not mind having it here. It seems no matter what I try to do, there is a problem. The WSJ article made some people upset and it turned out to be some that I knew and never imagined why it would upset anyone. I do not care but no matter our differences between the groups or people, we deeply care about every child. This family has two boys with SDS and she makes things to help her family. I do not mind at all that it is here. There is nothing I can do about it but even if I could, I wouldn't. I knew these kids and they are great kids. I pray for them and every child with any disease. Feel free to visit the site. This often gets replaced by hackers who write something else, and only some computers can see it, so all I can do is my best to watch this. Thanks.