Favorite Links

 http://inod.org/default.aspx             Link to undiagnosed diseases

That is why for my husband as a Respiratory Therapist and myself while time spent in Nursing training, would rather do our own kids and keep the care within our own home. We are fortunate to be in one of the cleanest hospitals in Ohio but sadly, with the economy, we have lost many of our "good" nurses and it shows. Weve had mistakes made and some major but caught and almost eveytime by someone doing their job and a lot of prayer's being said on our children's behalf. A good nurse is worth every penny paid but more than that, is a families dearest friend for a mother of three, cannot be overlooking all of her children's needs. In that department Cincinnati's Children's Bone Marrow Unit is tops as well as recovery room!

While we list these below it is because each of them are or have been a part of a puzzle not yet found and we continue our fight but we pray for ever doctor who has wanted to save a child but couldn't. For every nurse who made a mistake but got help as fast as possible and for every husband who lives, breaths and treats every patient like it was one of his own.My dear husband certainly has and we are so blessed we have him.  We continue to pray that the standards are raised not lowered and the bar set high for ALL Lives to be precouis and everyone deserves dignity in the darkest hour. For most enter this field to help, their are many there because the pay was good. There is a difference and it is easy to tell. So we thank our nurses and the doctor who has tried so hard to give a voice to those without a name, Dr. Harris. We still place our trust with him, since he too has been ignored in the past, I think he is working hard to get help for Jake. For the many nurses who don't have a clue of what their rumors or sharing a patients care can get them into all sorts of trouble, they need to take heed that they are interfering with a child's life and they will be held accountable. For the nurses who stand their ground and do their job, we are forever thankful.

This family has done nothing but give our support and admiration for the care we have recieved. We continue to put our trust in a hosptial, many friends and family fell we shouldn't. Again, we have prayed about this and we feel that the coming weeks will tell us the story. We pray that the new GI doctor we have, will help Jake and end his continued awful illness. We do indeed to seek out another avenue and we know Jesus will lead us to the right road to take. We hold no bitterness toward anyone and only care to move on in a positive way.

 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.

  http://sdsregistry.org/                                     

 http://www.fanconi.org/ 

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.

http://www.shwachman-diamond.org/you_can_help.htm

                           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.

http://www.primaryimmune.org/

                                       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.

http://www.mamashealth.com/kidney/multi.asp

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://www.axcan.com/us_scandishake.php

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.                      

http://www.helpher.org/hyperemesis-gravidarum/

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.

www.nichd.nih.gove

http://www.primaryimmune.org/

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.