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I am just going to attach emails and FB messages rather than typing this all out again so if it seems scatterbrained, that is why...
To my professors:
I would like to pass this update on to you in hopes that you will understand my inability to focus, at least I have not been able to since 5 pm. My son went into the GI today to get test results from the surgery he had back in December. We went in with the expectation that we would have his harmless, isolated disorder confirmed. That is not the news we were given. The doctor told us that he is now producing no enzymes on his own and that after looking through his chart he thinks he has connected the dots. Danny also has had a very low white blood cell count and been anemic. These factors combined point quite strongly to a syndrome called Shwachman-Diamond Syndrome. The doctor wants to get a second opinion on this and has already referred Danny to a geneticist to make sure he does indeed have this syndrome. He had to go in for a blood count today and we should have that back tomorrow but if his white blood cell count drops below 800 he will have to either start a medication to boost the levels, which have terrible long-term use side effects, or have a bone marrow transplant. In addition to finding all of this out in an hour I have been informed that the leading cause of death among patients with this syndrome are severe infections and malignant diseases(cancer) usually leukemia. Depending on how the blood work comes back, I may be missing class if he winds up needing to start medication or depending on the levels start seeing new doctors.
(not sure why the next one is pink...
to his Pre-k teachers:
I would like to pass this update on to you in hopes that you will help me work with a few things. Danny went into the GI today to get test results from the surgery he had back in December. We went in with the expectation that we would have his harmless, isolated disorder confirmed. That is not the news we were given. The doctor told us that he is now producing no enzymes on his own and that after looking through his chart he thinks he has connected the dots. Danny also has had a very low white blood cell count and been anemic. These factors combined point quite strongly to a syndrome called Shwachman-Diamond Syndrome. The doctor wants to get a second opinion on this and has already referred Danny to a geneticist to make sure he does indeed have this syndrome. He had to go in for a blood count today and we should have that back tomorrow but if his white blood cell count drops below 800 he will have to either start a medication to boost the levels, which have terrible long-term use side effects, or have a bone marrow transplant. In addition to finding all of this out in an hour, I have learned that the leading cause of death among patients with this syndrome are severe infections and malignant diseases(cancer) usually leukemia.
As you may have guessed this is quite a bit for me to process in any amount of time nonetheless mid semester after missing a week of classes. His disorder is by no means isolated and can cause any number of problems. If you notice him bruising easily I need you to let me know. Low platelet counts are often present with this as well but can fluctuate. If you notice anything odd at all that he does or can't do please let me know. I will try to get information to help you know what to watch for as soon as I can. The major thing I need you to tell me is if someone has an aggressive illness or anything that gives a "typical child" a hard time getting over. If his white blood cell count drops below 800 he will get virtually everything he is exposed to and have a VERY difficult time fighting it off. If a child is out sick please let me know what he or she has or at least a general idea to watch for such as stomach bug, respiratory illness, flu-like illness, etc. I will need to find out how best to help him when he gets sick. This does explain why he is so sick all the time and why things hit him harder than others. I don't need to know who is sick but I will need to know what type of illness to watch for it at all possible.
At the most basic level the disease is a malfunctioning pancreas and malfunctioning bone marrow, but like I mentioned, there are many, many things that can happen that are in not obviously related to either of these.
To his Pre-k teachers:
One thing that I learned today through talking with the head nursing coordinator for the SDS registry (the main organization in the US for Danny's syndrome) he will likely have white blood cell levels above the "panic stage" until he hasn't been sick for two weeks or more...with any type of bug at all. This means that even though his labs will likely come back with acceptable levels, he doesn't have an immune system strong enough to keep from getting sick. Everything he makes gets used to fight the current, which is why he is constantly ill in one way or another. One thing that she says needs to be done (as much as reasonable possible) is to clean anything Danny puts in his mouth with bleach wipes, when he sits to eat, the chair and table need to be cleaned with bleach wipes, as well as his mat. Everything needs to be cleaned just before he uses it. I know that toys don't really work out well in this regard but as much as possible have him wash his hands right after he plays with anything, inside or out, and keep hand sanitizer with him. The other option to these...the best but definitely not feasible...is to either have his own toys that only he plays with and they are cleaned before he uses them, or he wears gloves and a mask. If at some point we check his levels and they are below 800 he will likely need to wear a mask. Not because he is contagious, but because he WILL get anything he is exposed to and will have a VERY difficult time getting over anything. At that point he will likely start injections to raise his white blood cell production but these injections cause bone pain. An adult patient that started the injections said that it felt like "someone breaking my legs over and over again." The pain will "usually be gone within 2 months." Those are quotes. I am praying that we will not have to start these injections but if we do please keep in mind that he will be in terrible pain, all the time. He will be, hopefully, on medication to dull the pain, but he will still likely be quite whiney and disobedient. Like I said, I am hoping it doesn't come to that but that is the treatment for the dangerously low white blood cell counts. If he spikes a fever or gets lethargic I need to be called immediately. If you cannot get ahold of me follow the same procedure as for the epipen. If you notice he is bruising easily I need you to let me know immediately through the same process.
To my friend:
I broke down three or four times already today. I contacted the registry and the coordinator is going to be emailing me factual information that generally applies rather than worst case scenario or speculation like I am finding on the internet. I really appreciate that. The bad news is that they suggested he have a bone marrow biopsy done to rule out any leukemia now. It is apparently quite common. :'( I am just getting through one hour at a time. That is the longest goal i have kept so far. The GI didn't have the results yet but if when they get them they are below 800 they will call and either have us come right in or send us somewhere i guess....anyway, they will call if they are below 800...I am guessing they will be sadly. the person at the registry said normally kids with SDS with neutropenia will not produce more WBC when they are sick...and since he has been sick quite often she is leaning more toward lower than 800. One step at a time...
I talked with two people from SDS foundation and got a LOT more information. There are patients who do not have the genetic marker for SDS but have all the symptoms and are treated as SDS patients, but the ones who do have the genetic marker have a much higher chance than even the SDS patients without the genetic marker of having leukemia in their lifetime...anywhere from now until late 80's...aka a normal life span. His WBC count will likely come back falsely high because he has been ill. She said the only way to get an accurate reading of his neutrophil levels are for him to be healthy for a full 2 weeks and then have CBC done twice a week for two weeks...you heard right...a full month without illness...wish us luck. She said it is usually done during the summer because kids are exposed to so much other times but I don't even know if he has ever been healthy for a month straight! o.O The neupogen doesn't have terrible side effects after the initial adjustment phase. Apparently one adult described the "bone pain" as "someone breaking his legs, over and over and over." The bone marrow will expand with the neupogen (because it is working better) but that puts pressure on the bones. It "usually resolves itself within 2 months. :'( I don't know if I could watch him go through that. The best place for him to be treated is Cinci but if insurance won't cover Cinci he can likely go to Vandy and get good treatment as well. The good thing about having a research foundation backing you is that they will consult other doctors even if they aren't actually the main doctor's patient. So whatever Dr he sees can call Cinci or Seattle and get whatever info or help is available. And...he doesn't have to have the WBC less than 500 3 times before he can get the neupogen free from the neutropenia registry. As soon as he is on the SDS registry I can have him put on that registry as well. If he ever needs it, we call, and 48 hours later it is waiting for us via fed ex or some other mailing service 100% free. Anytime all of his cell levels (platelets, WBC, and hemoglobin) drop he needs to have a bone marrow biopsy to rule out leuk imediately. If he has easy bruising he needs to have a CBC asap and if it shows that he will have a biopsy done asap. I know this is scatterbrained, sorry. I tried to spit it out before I forgot it. There is so much to remember and I just hope I can keep everything straight. The preschool has to keep the stuff he touches "super-clean" and he can have no more than one vax per week or one combo vax every three weeks. Marrow transplants are usually only done if the marrow tissue is rapidly changing or his treatment is not working and his conditions are getting so wide and varied (but all due to SDS) that they can't control all of them. There is almost an infinite number of complications with this disorder and I am just getting the tip of the iceburg. I am just glad that he will have a good support team even if he can't go to Cinci.
To the Dean:
suggested that I should let you know what has been going on with my son so that in the case anything happens you will already be aware of the situation. My son has had health problems almost since birth, but we have just recently found the cause for most of them. He has been diagnosed with Shwaschman-Diamond Syndrome (SDS). He is waiting to see a geneticist but even if he does not have the gene for the disorder, he will still be diagnosed with it. People who have the gene mutation that is associated with SDS are at a much higher risk of leukemia and will need bone marrow biopsies at least once per year. This disorder generally affects the pancreas and bone marrow but because the bone marrow is involved it can branch out into any number of areas of the body and cause problems ranging from mild to life-threatening. The closest hospital that treats SDS patients and is familiar with the types of things to look for, watch for, and how to treat them is Vanderbilt in Nashville. He will most likely need to go no more than every three months but depending on how well he does he may have to go before spring break for his initial visit. He will need to see many doctors each time he goes so if we have to go during the school year he will likely be out for at least two days and since I am a single mother, I will also be out for at least that amount of time. The most concerning part of the disorder on a daily basis is that his immune system doesn't function properly. Due to his bone marrow not working properly, his body cannot make enough white blood cells. Until the school year is over, he shouldn't have an issue with his counts dropping too low but if somehow he stops getting sick for more than 2 weeks than he could have to start a medication to increase his white blood cell production. This medication causes excruciating bone pain that an adult patient said "it felt like someone was breaking my legs over and over again." The pain according to the neutropenia (low white blood cell count) organization's website will "usually be gone within 2 months." My son is three years old, so if he has to start this medication obviously it will be quite a burden for he and I to bear. We are praying that his white blood cell count stays above 800 but if it doesn't at any point (he is tested once per month) than he will have to start the medication.
That should pretty much sum it up...sorry about the monotonous repetition. It is a MAJOR life changer and I am not really sure how we are going to get everything sorted out. I am waiting on a call from Children's in Cinci to find out the best place for him to be treated in TN and waiting for some more information from the Dr and from the SDS registry... This is a nightmare....
Thanks .:Shortcake:. for my GREAT siggy.
Last edited by i3ai3ydanny; February 3rd, 2011 at 10:31 AM.
((Hugs)) I know this is a life changing disease, but it's treatable! He'll probably have dna testing to confirm this. Ava had the testing done when her ANC dropped to 0, glucose issues and her hemoglobin was 6. (She's doesn't have the gene, but is considered SDS which ties to her Mito). They'll probably do some pancreas imaging at some point too.
PM me if you want to vent. Good news is there are enzymes he can take and there are medications to help!!!!! I know you're in shock, but this does get better. There are plenty of people with this that are stable and thriving.
We go to Cinci and they are very good at helping with travel and accomodations!
Thank you, tasha_mae, for my siggy!
Last edited by Ditzzy; February 3rd, 2011 at 01:31 PM.
He has been on enzymes for over a year already. We thought he just had chymotrypsin deficiency but this PFT showed no pancreatic enzyme production. Does she have to do the Neupogen? Did she have the bone pain that they were talking about? Does she have to have the marrow biopsies? How does it affect her? We talked to Audrey in Seattle for over an hour last night and she answered a LOT of my questions but said Cinci would be the best place to call to find a hospital that handles SDS in TN. If even Vandy isn't good enough apparently it is possible to get medicaid to pay for it but it is extremely difficult and time consuming. I am hoping that we can get everything straightened out. I finally have my head screwed back on right. It is so overwhelming going from an isolated condition with one enzyme missing to having this syndrome that con potentially affect any body system... Does she have to wear a mask or anything when her levels drop below a certain point? If you don't mind I am sure I will have tons of questions and since you have a child with this I would like to ask you first for some things. Is this only supposed to make them succeptible to bacterial illnesses, the neutropenia, or are they succeptable to all viruses and bacteria? Danny has been sick almost nonstop with something or another but mostly viruses... Is that just the neutropenia?
Before you give up on Cinci, remember that you can get free flights from angel flights and stay at rmh. I am so partial to this hospital.
Ava has Lumbar puctures to look at her spinal fluid. We are doing her bone marrow biopsy with her next surgery. She isn't absorbing iron right now. She's on 8 ml of iron a day! We are discussing interferon (cancer drug) for this. Her pancreas is enlarged, as is her liver. Her pancreas enzymes are too low, her liver enzymes are too high. She has no glycogen stores at all. She can't go more than 2 hours off gtube feeds before her blood sugar plummets.
Ava's neutropenia gets severe, her counts go to 0.
The problem with Ava is she also has Mito. We have to be very careful what meds we give her. Even IV fluids....
Because of her Mito, we don't know if her bone pain is from SDS or Mito and we don't want to put her on more meds, if possible.
I'm sorry you're dealing with this. I know it's hard. There is hope.
The transportation and housing aren't huge issues, but insurance covering his visits is... He has state medicaid and they usually will not cover out of state doctors...and we are in Tennessee... What are the LP's for? I am still figuring out what to watch for and what will happen. He hasn't had his liver enzymes checked or the size of his organs checked yet. Our doctor knew enough that he recognized the symptoms of SDS...neutropenia, pancreatic insufficiency, and anemia, but not enough to explain anything about it to me... :/ I was looking and looking for info online but only found worst case scenarios according to Seattle. They helped a lot but it always seems more reliable coming from a parent. I sent you a request on FB. Sarah Anglin
***Please don't mention the SDS or anything related to it in "open territory" until I do.*** Most of our family doesn't know and won't until I get more information on what to expect specifically for Danny.
Do you know how long it takes to get the ball rolling on checking things after the initial Diagnosis? Danny's GI is having a geneticist confirm the diagnosis so I don't know what is going to happen in the next few weeks, months, or however long this process takes....
Ava was in-patient with other problems when this was discovered. It was such a whirlwind. Because her anc was 0 with no warning. They actually retested b/c they thought it was a lab error, they all went into panic mode. She was put in strict isolation and we literally had genetics, immunology, hemotology/oncology, infectious disease, rheumatology, and gastro consulting daily. Ultrasounds and CT were perfermed that day. Blood was sent out for testing for a few different things. (it took a while to come back). Ava was so enemic that they couldn't do all the bloodwork everyone wanted done. Every morning they would go through the orders and decide which was most important.
Does your DS spend a lot of timein the hospital?
Thank you, tasha_mae, for my siggy!
Last edited by Ditzzy; February 4th, 2011 at 12:59 PM.