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We are back, again, in Cincinnati for “wrap up” appointments getting to the countdown to next week. After having an overnight oxygen/heart rate test, Dr. B (lung specialist) wanted some kind of nuclear scan of his lungs and a 6 minute walk to test his saturation and heart rate while active. For the scan they first did some kind of radioactive aerosol while taking 4 minute images–it was pretty interesting as you could see his breaths going in and out of his lungs; then they injected his bloodstream (in PICC line) to see the blood supply to the lungs. We don’t have the results of the scan yet, but it was pretty easy to see the issues with his right lung without a degree in medicine. On the 6 minute walk, he walked 600 feet/3 minutes and his oxygen sat dropped to 77 and his heart rate jumped to 159 bpm. Yes, well, that’s not good, so he completed the rest of the 6 minutes on oxygen much to his great annoyance. Dr. B should have both results back tomorrow.
Tomorrow we have some other x-rays that orthopedics wanted, and appointments with infectious disease, gastro, hematology, and an echocardiogram.
Michael and I headed to the hospital at around 7am as he had an 8:30am appointment with endocrinology and with construction and traffic going into Cincinnati, I wanted plenty of time! We met with Dr. Rutter, who is coincidentally the wife of the Dr. Rutter that did his scoping in September, and she took a loooong time with us going over test results, measurements, history, etc. She was very thorough and very unrushed. We didn’t really come to any conclusions in this appointment, but she had them do a bone age scan which will determine how much growth his bones have left potentially. If he has a significant amount of growth left–we will consider stopping his puberty (which is only in the early stages) giving him more time for natural growth. (His growth hormones were fine so giving growth hormone shots wouldn’t work, not that we would have as we have been advised not to all along due to his respiratory issues.) If his bone age is close to capping, then we’ll just allow things to go along. She feels most of his extreme fatigue issues are related to his lung function and respiratory distress as throid and etc. came back fine. The other bit of possible good news is that she thinks his bone density may not be low depending on if it was read properly given his height and build. She was quite concerned about it, she said, until she saw him in person. She is going to rework the numbers and get back to me on whether or not they were done accurately. She did a test on his vitamin D just in case they are correct to help determine the best dosage of vitamin D needed if his density is as low as it reports in the testing.
They also tested all his vitamin levels and did a CBC, Theresa called and gave me the basic results and will email the rest, his white count is okay (with shots every other day) at 2.9, his hemoglobin was normal/low at 13.3 which is pretty much around where he stays, but his platelets were lower even than his normal low. He tends to hover between 65-68,000 (normal is 135-466,000) but his was at 46,000. This makes sense to me as the last shot I gave him he bled more than normal and at the office when they drew blood it seeped more than normal and he has a very large bruise which he doesn’t normally get. I let her know that this morning. Once I get the emailed results I’ll forward them to his local hem.
After that we had lunch with Pattie who has two boys with Shwachman Diamond and is the person I emailed back in Sept from the hotel after they mentioned the possiblity of Michael having SDS–she was very helpful then and since with articles and booklets and support. So I was very happy to meet her and her boys and Michael was excited to meet them (pictures later when I recharge my camera enough to get them off the camera.
Next up was a surgery consultation about Michael’s unhealed feeding tube hold. We really liked this doctor a lot, he was very easy to talk with and listened to Michael’s frustration patiently and sympathetically. While it seems his most minor issue, for Michael, it is the most frustrating. The doctor said it was an easy fix, they would cut an eye shape around the whole scar tissue circle and close it up. He said it could not be done with another surgery as the risk of infection outweighs the risk of putting him under twice. He also said that it is a short procedure and that they could put him under only mildly, less so than the scoping even, and then use a lot of local anesthetic. He would be out, but not sedated so heavily. As long as he doesn’t have any extra infections going on he is comfortable doing it despite his other issues. He was very perceptive in Michael’s emotional issues about it and said that sometimes there are so many big issues going on that cannot be fixed or cannot easily be fixed that it helps to find something seemingly small that CAN be fixed and fix it. I have to admit I almost started bawling after the ortho visit and wanted to hug him as he was right. We have to go back to Cincinnati in February to see Dr. Harris and we can do it during that visit. He’ll spend one night after the surgery and leave in the morning if he is eating and drinking fine. Michael was literally on cloud nine about it and you could see a weight come off.
WHEW. Sorry, another long post, yet again, but a full day! After this visit, we went to Pattie’s hotel just down the street and met up with her and her boys and Amanda and her daughter and sons–it was really nice to meet them both and get to just sit, talk, and pull Amanda onto Facebook! Pattie is going to email me pictures as my camera died! We stayed there until we had to be back at the hospital for the sleep study.
A picture speaks a thousand words:
That one is a self portrait! You can see the rest of them here, they were all taken on my phone as my camera was dead. As you’ll see from the other photos, he was wired every which way and could hardly get comfortable-it took an hour to get it all glued on! He had a bit of a breakdown at midnight exhausted and unable to sleep but then finally fell asleep about 1am–they came in at 6am and we headed back to the hotel. We’ll get the results in a few weeks.
That’s the end of another long missive, we’ll be heading home in an hour and a half weather permitting!
Well we are off for our fourth month in a row to Cincinnati and I’ve already heard murmmerings about next month so I’m thinking we’ll just have to accept it as a rhythm of life for a bit!
We originally had an endocrinology appointment tomorrow afternoon but that got shifted to Thursday because they wanted him seen by a doctor who works with SDS patients in Dr. Harris’ clinic. So we’re heading up anyway as we didn’t know for sure until later this afternoon if we were going or not. It’ll be nice to just deal with getting to the hotel and settled in and relaxing, so none of us are disappointed about it. My mom, Katie, Michael, and I will all be going, Mike has to work and since there are no procedures being done, he’s fine with me relaying information.
Wednesday is the “big” day, so to speak, we have an appointment with orthopedic at 12:40p to, hopefully, discuss options for surgery. We are all quite stressed about this appointment because either way we go we are looking down a long road. It feels like the last three and a half months have all been leading to this, really, the last couple of years and to say I have a knot in my stomach is not touching the reality of it.
Thursday will be a busy day, we have the moved endocrinology appointment at 8:30am, then a surgery consultation at 1pm to look at his feeding tube hole so that if/when they do his spine they can go in and properly close it up as the clips didn’t hold from the scoping. After that we are going to meet up with a couple of families on the SDS group I have connected with the last couple of months. Michael is especially excited to meet up with Pattie’s two boys. Then at 6:15 we are due back to the hospital for the overnight sleep study. They are concerned that Michael isn’t really getting into deep sleep and also that he isn’t releasing enough carbon dioxide while he is sleeping. I’m kindof glad that this will be a long day as it might make it easier for Michael to fall asleep despite all the probes and such!
Friday we’ll be heading home barring any add on tests, which are possible as they do try to squeeze anything in they can think of while we’re down there, which is nice in a way. Then we’re home free to enjoy Christmas. I worked very hard to pretty much finish Christmas last week as I didn’t want to have to stress after we got home and I’m glad that I did. I literally only have a few misc. things to wrap, maybe a couple extra stocking stuffers to get…and that’s it! Phew! It was a necessary organization between my final week of class and this trip.
Anyway, we appreciate everyone’s thoughts, prayers, and concern as we head back down and I’ll put an update up Wed. night about the consultation.
We are back from our third visit to Cincinnati this fall, this week was to meet with Dr. Harris and go over all the myriad of tests that were taken last month. As last time, I’m giving readers a NUTSHELL and a COCONUT SHELL to satisfy what amount of information you want to digest!
IN A NUTSHELL: Michael does have Shwachman-Diamond Syndrome as confirmed by genetic testing. Pancreas shows the fatty tissue that is the result of the disease, but there is enough (needs little) to make enough enzymes at this point to digest food correctly.
- Liver a little funky, but functioning fine.
- Right kidney smaller than left and small for age/size that seems to be the result of some scarring/damage from earlier, not causing problems at the time.
- Bone Marrow was covered last post, but he did explain that his cellularity (amount of bone marrow made up of red blood cells, white blood cells, and platelets was that of a 70-80 year old man, which was disconcerting to hear.
- Unfortunately we found three areas that affect his immune system that are not working correctly on top of the low white cells/neutrophils that we have known about: 1) the neutrophils that he has (which his shots force his bone marrow to produce) do not go to the infection properly, they are slow and meandering and not “getting it done,” and it isn’t enough to have them if they aren’t where they need to be. 2) the antibodies that are the first line of defense against infections are quite low and also not “getting it done” which, combined with #1, means that infections have a great opportunity to really dig in before anything is done about them. 3) his lymphocytes (brains of the white cells) are low in a few different ways that contribute to making an over all not the best immune system.
Apparently, if this was a war on infection, the general (brains) isn’t doing his job, there aren’t enough foot soldiers heading up the front lines, and the cavalry is roaming about the battlefield without any sense of urgency or direction–not the best way to wage war.
For those not wanting all the details that help me straighten things out in my head, head down to the WHERE DO WE GO FROM HERE at the bottom of the post!
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THE COCONUT SHELL: Firstly, we got the genetic testing back and it confirmed that Michael does have Shwachman Diamond Syndrome (SDS), he has two of the genetic mutations (c.183_184 TA>CT and c.258+2 T>C, for those who want to know). They also did some testing of blood cytogenetics for Jeune’s Syndrome and he does not show any of those–so they have ruled out Jeune’s and have a definitive diagnosis of Shwachman Diamond Syndrome. I don’t know how we feel about this, it was strangely emotional and conflicting for me. On one hand it was good to have a concrete diagnosis that makes sense and fits with all his issues. On the other hand, it was a little bit shocking to really say that after 18 years, he didn’t have Jeune’s after all–so much study, so much research, so much finding other families with Jeune’s…not that it was wasted, but it is just disconcerting for whatever reason.
After that, there was a long list of results:
Organs:
- Pancreas: an ultrasound showed that his pancreas has largely turned to fatty tissue (caused by the disease) but enough (only a very small portion is needed) survived and has reestablished itself (Dr. Harris said they really aren’t sure why it is that sometimes with age just enough good tissue can develop or repair to create enough enzyme to digest properly). The pancreatic enzyme analysis also came back normal and so he will not need to take enzymes to help digest food properly.
- Liver: some mild issues showed up on the liver ultrasound, and his albumin level was a bit high but nothing that seems to be an issue at this time.
- Kidney: His right kidney is smaller than the left and is small for his age/size which may be caused by some scarring from past issues, however the kidney function appears fine.
- Bone Marrow: We covered that in the last post, he did say that his cellularity (total amount of bone marrow made up of white cells, red cells, and platelets), while not an immediate issue, is not good and would be comparable to a 70-80 year old man…you start with 100% cellularity as a baby and start to loose it as you get older at the rate of *approximately* 10% per 10 years so that at his age he should have 70-80% cellularity and instead has 30-40%. This will have to be watched with yearly bone marrow aspirations.
Immune system:
- We know that Michael has Chronic Neutropenia (low white cells) which affects his body fighting off infection and so he takes GCSF shots to boost his absolute neutrophil count–which works well for Michael. However, it appears that it isn’t enough just to “have” neutrophils, they have to actually be doing their job and zipping off to fight off infection. In fact, they are suppose to go over to the infection, ingest the infection, kill the infection and something else–well, apparently Michael’s neutrophils do just fine with the ingesting, killing and etc., but only if they actually make it over to the infection. His neutrophil mobility or “directed migration” is quite low, which Dr. Harris explained to Michael that while the neutrophil’s should be making line towards the infection efficiently, instead his neturophils are just wandering around aimlessly and maybe getting where they should be going and maybe not and all of it slowly–so that by the time they get around to doing their job, an infection could be really settling in. GCSF does not improve that or change it, it is a defect that can come with SDS.
- Another line of immune system defense are Immunoglobulins, or antibodies that deal with bacteria, viruses, fungus, etc. They tested his IgA (protects the body surfaces such as the nose, breathing passages, ears, eyes, etc.) which was normal, his IgG (antibodies found in body fluids) also normal, and IgM (antibodies found in the blood and lymph fluid and are the first type of antibody made in response to an infection–Michael’s were quite low and combined with his neutrophils wandering about aimlessly, his front line of defense on both sides are inadequate and make it easy for infection to take hold before his body has a chance to do its job.
- -As we found out before, his lymphocytes (part of the adaptive immune system) are also low and some other testing of this line of defense show low CD3, CD4, NK (natural killer cells that reject tumors and cells infected by viruses) and B cells–his B cells showing “global B-cell lymphopenia”–the B-cells are involved in making antibodies. I will be honest that I do not have a direct handle on explaining this aspect of it, the main thing I understand is that it is just another way that his immune system is compromised and causes problems in keeping Michael healthy. Some studying up is needed in this area.
As I said in the NUTSHELL section, this is not a great way to wage war.
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So, WHERE DO WE GO FROM HERE–Well, it has given us a great deal of knowledge, I doubt there is much more they need to know about him and how he is ticking in various ways, there are still a couple tests out that should be back in a week and a half. Dr. Harris is recommending Michael’s local hematologist consider doing IVIG transfusions to boost his immune system before and for a bit after any surgery were to take place to just try and put him in the best possible position for a successful surgery and recovery. In the mean time, we are waiting to go back down for the week before Christmas to see Endocrinology (Dr. Harris did most of the testing, but they will deal with issues of his growth, weight, and bone density to see how we can up his health in those areas), Orthopedics (to find out what/if/possibly when they can do something surgically to repair his spine and/or rib cage further), and a sleep study to make sure he is releasing enough carbon dioxide when he is sleeping and getting enough oxygen and actually getting beneficial sleep.
Michael was able to meet up with Clarke, a young man who has similar issues as him, while we were in Cincinnati. This was a highlight that made up for a very painful blood draw that took a blown blood vessel and two jabs to complete.
Late Friday afternoon I was emailed a copy of the results of Michael’s bone marrow test results. We were getting ready for a big Halloween party so while I dug around a bit to try and make sense of the test, I didn’t get to really try and pick it apart until yesterday before work. I had to pretty much take the whole thing apart and define words piece by piece until it all started to click in terms of terminology (thank you Pattie for being patient and helpful during this process!)–this is important to me as when we sit down with Dr. Harris to go over all the blood work done in two weeks, I need to be able to understand what things he is referring to.
The nutshell for those who want it short and simple:
This is just a small piece of a lot of testing that will all be in by Nov. 18th when we go back to see Dr. Harris but it does show that there is no obvious shift towards leukemia (the VERY good news). It does, however, confirm that all three cell lines (white, red, platelets) are affected and not being produced by the bone marrow correctly, and also confirms that his lymphocytes (another form of white blood cell the affects the immune system) are low (the NOT so good news). So it was a mixed bag, as usual, but for myself, I have been able to breathe much better with the good news being in there as I don’t think I could have taken any obvious shift towards leukemia (I know, I know, I could have taken it, but no one wants to go down that road, especially on top of everything else). (Feel free to scroll on down to the “Where we go from here” section if that is good enough for you!)
The coconut shell for those who want more details:
The nurse coordinator cautioned that this test was just a very small piece in all the tests that were done (which I can certainly attest to having seen the incredibly numerous vials of blood that were drawn) that all together would help Dr. Harris get a clear picture of Michael’s blood and immune system issues. However, three things could be gotten from the results as is. First, there was no increase in blasts found meaning the cells were maturing properly (The percentage of marrow cells that are blasts is particularly important. Blasts are produced by bone marrow stem cells and eventually develop into mature blood cells. In MDS, the blasts do not mature properly, so there may be too many blasts and not enough mature cells. A patient who has more than 20% blasts in the bone marrow is considered to have acute leukemia. From ACS). On top of that, the chromozone (cytogenetic) and FISH studies were normal–all three of these things are very good things and show that there is not a shift in progress towards leukemia (I do not understand these last two tests enough to explain them yet, but I do know that it is a good thing for them to be normal, they watch these two tests to help decide when patients with bone marrow failure issues are getting close to needing a bone marrow transplant). This is very good news and took a large weight off of all of our shoulders.
Secondly, the test did, however, confirm that all three of Michael’s cell lines are affected. Bone marrow produces white blood cells, red blood cells, and platelets. White blood cells fight off infection and bacteria, red blood cells carry oxygen throughout the body, and platelets help the healing process by clotting tiny cuts, tears, and wounds. Michael was diagnosed with Severe Chronic Neutropenia when he was 8 years old (old tests reveal he was likely having issues with it from birth)–this is a failure in the bone marrow to produce enough white blood cells, specifically neutrofils, which the body needs to fight off infections. This was found out due to trouble they were having with his platelets not recovering after being sick and multiple transfusions, his platelets since that time have always remained low (thrombocytopenia is a failure in the bone marrow to produce enough platelets). The third cell line is the red blood cells and a failure in the bone marrow to produce enough red blood cells is called anemia. Michael’s red blood cell count has always stayed pretty consistently higher than average (7 to 7.5) because of his lung condition. The difficulty with knowing exactly how his bone marrow is doing in producing red blood cells comes because he has severe lung disease (both restricted and obstructed) which stimulates the bone marrow to produce more red blood cells to try and help get more oxygen around his body–making a high red blood cell count. Now his red blood count is showing mild anemia (low)–which without his lung disease, would be lower still. Needless to say it is not a good thing to have his bone marrow failing to produce all three types of cells sufficiently (pancytopaenia)–what this means in the larger picture is something we’ll discuss with Dr. Harris in two weeks.
The Third thing the test confirmed was that his lymphocytes were low (lymphopenia) which is another type of white blood cell that affects the over all immune system. Michael gets shots every other day to boost his white blood cells–but it only boosts the neutrophils and doesn’t affect his lymphocytes. This is another way that his immune system is not working correctly and affects his over all health. We will be discussing a monthly or weekly transfusion of plasma (IVIG or SCIG) to try and boost his immune system along with his shots when we talk to Dr. Harris in two weeks.
Where we go from here:
On November 18th we have another appointment with Dr. Harris to go over the large number of tests done and hopefully have a clear picture of just where his blood/immune system issues stand and how we should move forward in terms of getting and keeping him as healthy as possible. On Dec. 16-19th we will finish up all the other consultations/testing: Endochronolgy, Sleep Study, and the all important Orthopedic. The orthopedic consultation is huge as Michael’s issues with his scoliosis and cutting off of his airway are very large ones and the looming question of what can be done surgically and if anyone will do it are paramount. The short term goal of everything we are doing is to get him as healthy as possible to increase his odds for going through the kind of surgery that will be necessary. If nothing else, by the end of this year we should have an extremely clear picture of Michael’s health from head to toe and from inside to outside and hopefully a plan in place to improve it to the best of our combined abilities.
Apparently this will be the fall of monthly visits to Cincinnati! NOT that we are complaining, we are thrilled with the hospital and the people there and appreciate the work they are doing to coordinate all of this. We’ll be heading back down on Nov. 17th, Tuesday (the week before Thanksgiving), for the big consultation with the hematologist Dr. Harris to go over all the the testing that was done last week as well as the genetic test results. We’ll be staying the night and then Wednesday will be for any followup testing that Dr. Harris needs/wants. On Dec. 16th, Tue (the week before Christmas) we’ll be going down to Cincinnati for the much anticipated orthopedic consultation to discuss surgery options 8am on Wed; Thur. night will be the sleep study and then we’ll be coming home Friday. Sometime in there (possibly Tuesday) we hope to get the endochronologist in as well–I’m waiting to hear from them. It’s all a little overwhelming, but we’re hoping this means by the end of that week we might have a good idea of where we are going and what we might be able to do to improve Michael’s health.
NOTE: They were able to squeeze him into the Endochronologist so we’ll be going there on Tuesday at 1:30.
**As before, I apologize for how long this update is, but it helps me to line everything out for memory’s sake and some people want all the information**
Today started with a lesson in Cincinnati traffic! We’ve done pretty good so far, in timing things right to get down 71 into the city, but today we ended up in stop and go traffic that made us late–which was okay as there wasn’t anything first thing in the morning that was time specific. There was more blood drawn, it seemed like a lot, but nothing compared to yesterday, we joked about never seeing so many vials of blood drawn for testing and the nurse said she hadn’t even heard of many of the tests they were doing. Since they needed an IV later they just placed the IV for the blood draw and left it so he didn’t have to be stuck twice, something Michael greatly appreciated. Then Dr. Harris came in and we had a lengthy “interview” with questions about health background, family health, history of diseases, etc. He was very thorough and very easy to talk with. He went over some of the results that came back from yesterday’s blood draw. His white blood cells were up quite a bit (5.3) due to being on the GCS-F consistently for the last month+, so that was expected. His platelets were low (60,000), but again, expected as he hovers around 58,000. His lymphocytes were low again, 12% (34-42% is average) with an absolute count of .69–it has been explained that while neutrophils are the “brutes” of the white blood cell family, lymphacytes are the “brains”. Dr. Harris said that we will likely consider IVIG treatment to try and help boost his immune system–IVIG is a procedure that either requires once a month IV infusion or weekly infusion called SCIG which Dr. Harris seemed to suggest would be the better route as you don’t have the increase after the IV and then a month if it declining down and not working as well by the time the next monthly infusion is due. It is my understanding, also, that SCIG has less adverse reactions that the IVIG. Looking at the pictures of two boys getting SCIG treatment from a woman who has been very helpful in sorting out all the new information on Shwachman Diamond Syndrome–I can say that Michael will be horrified by this, given his aversion to needles. But it appears to be quite effective in boosting the immune system in people who have a suppressed immune system so we’ll cross that bridge when we come to it–likely after we visit Dr. Harris in a month to go over all the test results. His Vitamin K (which is connected with blood clotting) levels were also indicated as being low due to something in the coag studies (they tested all the fat soluble vitamin levels which we’ll get back later). Last November when he was hospitalized he had had to have an IV bag of Vit K due to deficiency at the time. Dr. Harris explained that with people who have SDS not breaking down fat properly they tend to be deficient in the fat soluble vitamins, he prescribed a vitamin for all four.
Michael has two out of the three cell failures (Neutropenia and Thrombocytopenia), Dr. Harris explained that the neutrophils were usually the first to go, which we know Michael has had since birth or thereabout, the platelets generally fail next, Michael’s failed at around age 8–or rather, we became aware of it then due to his platelets not responding to multiple transfusions when he was severely sick. The last to go are the red blood cells (Anemia) which Michael has not had an issue with at this point staying in the past around 7 for RBC levels. The problem with judging that, however, is complicated by his severe respiratory problems. Dr. Harris explained that people with lung issues (smokers, people with lung cancer, people like Michael with severely compromised lung function, etc.) are having trouble getting and moving oxygen around the body (the job of red blood cells) so that the body forces a higher amount of red blood cells to be made to try and help the deficient lung function. So that while we might see a HGB level of 13.8 (average 13.3-17.7), that is a false reading that may actually be a 10 or under if he didn’t have the compromised lung function. His RBC levels were at 4.26 which is lower than usual even for him. Dr. Harris is concerned that these are indications that the third cell line is actually compromised, or at the least, moving to that direction. We will, I understand, have a more complete picture of that after all the tests results come in from the other blood work as well as the bone marrow aspiration and biopsy.
Some of his liver counts came back high, and while in the past he has had mildly elevated liver counts they were never symptomatic, I don’t know what those counts were. They sent him down for an ultrasound of his liver and his pancreas–I’ll call on those results Monday.
The bone marrow aspiration and biopsy went smoothly and quickly, he was completely sedated in the OR and other than having a very hard time waking up–once we were released and sitting down in the cafeteria waiting for a better traffic window to head up, he woke up from dozing looking very confused and said, “I thought I’d wake up in bed…not in a cafe!” He remembers being in the OR and having the mask placed, and then he remember waking up in the cafeteria, nothing about recovery at all! We had a good laugh about that all the way home.
Some of the results we will have back ranging from the next day or so to a week and a half, others will take longer. The plan is to go back down the week of November 17th and meet with Dr. Harris again to go over all the blood work, bone marrow results, and genetic testing results. We’re hoping to piggyback this consultation with the sleep study the Cincinnati pulmonologist wants done. Otherwise, the other earlier results I will call about in the next week or so. The worst is over for Michael, he is thrilled to be done with this and, in general, fed up with the entire testing arena. The worst is starting for me, I do not wait for test results well–a day at a time.
We were back in Cincinnati today for a consultation with Dr. Harris, a hematologist who specializes in Shwachman-Diamond Syndrome, for multiple types of blood tests and tomorrow a bone marrow aspiration and biopsy if all goes well. Today was fairly quick as far as consulting as they had just gotten faxes from Michael’s local hematologist so they skimmed through those to decide what tests to do and opted for the full spectrum of testing. Michael had a very difficult time as vial after vial was taken, he really has issues with blood tests and the longer it went and the more vials taken the more panicked he became. He did well, though, and stayed still until it was done. Tomorrow they will do a bit more blood work and then the bone marrow testing–we’ll also go over some of the labs done today that should be ready tomorrow–much of the testing, though, won’t be in fully until about a month.
He did agree that looking at all the testing done last time at Cincinnati that he seemed to fit very well with Shwachman-Diamond, that the bone abnormalities were consistent with SDS, and, so far, the blood issues such as Neutropenia and low platelets as well. He checked with the genetic testing lab to make sure they had received and were processing the genetic testing drawn that time around and they do have it, so by next month that should be in as well. He was also very clear that while they were using it to treat certain cases of SDS, even if indicated, he would not be able to have a bone marrow transplant due to his other health issues. He did tell us that Michael’s lymphocytes were low, something I’ll have to get clearer on before I explain what that means, and he also talked about a form of immune system boosting called IVIG. Tomorrow when we talk to him for the extended consultation I will try to get a clearer understanding of these. I know that it is a type of white blood cell separate from the Neutropenia issue that are quite important. We’ll see what today’s CBC shows and I’ll go into that more tomorrow night.
All in all it was a longer day than expected and Michael had a difficult time, but by evening he was perked back up again and we are getting ready to get some sleep to be prepared for tomorrow. Because of his ongoing respiratory issues they were reluctant to do the testing in their clinic OR as planned and moved him over to the regular OR–so as of this afternoon, the procedure is rescheduled for 1:30pm.
We got a call yesterday afternoon that Dr. Harris (a hematologist/oncologist who specializes in bone marrow failure issues, runs the Bone Marrow Failure clinic, and is very active in Shwachman-Diamond care and research) wanted to see Michael and that he could do so next week. So we’ll be heading down for a consultation on Weds. morning and testing on Thurs. morning. They’ll be doing lab work, a bone marrow aspiration (where they insert a needle and withdraw the liquid part of bone marrow) and a bone marrow biopsy (where they remove a more solid sample of the spongy material in the bone). Michael’s platelets and white count were quite low from the labs in Cincinnati last month, although he is always pretty low so that wasn’t a great surprise. It is my understanding that they will be looking, among other things, to see if the cells are shifting towards leukemia, which can happen with people whose bone marrow doesn’t work correctly like Michael’s. Doctors from the last testing also had said that orthopedic would want information gathered from this testing to help determine if/what they will do surgery-wise.
Michael is having a difficult time with this, he has an extra hard time with anything related to needles and is just frustrated at this point in his body not working and the testing being done and the hovering issue of surgery. To say that we are all a bundle of nerves and anxiety is an understatement and we appreciate your thoughts and prayers.
When we left Cincinnati last Thursday they told us that the doctors would be getting together this week on Wednesday to gather all the results and discuss their findings, hopefully come to some conclusions and come up with a “next step” plan. I had expected to hear from them tomorrow but got a call from them today.
There are still some tests out there but with the information they had before, the bone density scans, and the survey of x-rays they made they have concluded that he does indeed have Shwachman-Diamond Syndrome. This is not surprising to me as going down a list of SDS symptoms I can pretty well check each one off as “yes, got that covered.” Still, it is disconcerting to us all, Michael included, to set aside a label (Jeune’s Syndrome) that has been so much a part of our mindsets over the last 18 years. I feel out of depth going from relative Jeune’s Syndrome expert to knowing nothing about something that has such an impact on Michael’s health–I’ll have to quickly remedy that.
- Some good news in that the lesions on his stomach they biopsied came back normal and the Impedence probe testing came back normal as well–no reflux.
- As I noted, the DXA scan came back with low bone density and a definite need of supplementing vitamin D at the least, a doctor will be calling directly with other results and any other supplement needed for that. What way his having low bone density will affect the major surgery we’ll be facing in the future isn’t clear right now, but I can imagine that will add a complication to an already complicated problem.
- A Silverman Survey (sp?)–which was a series of x-rays on the long bones, knees, and various other bones–was conducted and was shown to be consistent with and very clearly Shwachman-Diamond Syndrome (apparently there is “tubulation of the long bones” but I’m not clear what that means as yet).
Where do we go from here? Well, the next step is a trip back to Cincinnati for a sleep study for purpose of seeing how shallow his breathing is at night, whether he is actually getting into full sleep, and whether he is releasing enough carbon dioxide. This will help decide whether to implement something like CPAP to force him to take deeper breaths both to improve his health currently and because he will almost certainly have to be on this after surgery and getting him used to it before hand may be a good idea. While down there for the sleep study they want us to have consulations with an orthopedic doctor to start the process of “what do we do” with the spinal and rib cage issues. Along with that, a consult with a hemotologist as Shwachman-Diamond Syndrome is a bone marrow failure syndrome and his Severe Neutropenia (along with his low lung function) will be something that greatly concerns the orthopedic doctor. Finally, a consult with an Endocrinologist for nutritional and hormonal issues. I’m suppose to call on Friday to start the ball rolling on setting those up.
As before, we are at this point just overwhelmed with the new information and and some of the results that last week gave us–we understand the importance of information, but digesting so much that is not the greatest news, all at once, is difficult. Regardless, we have learned from 18 years of experience that the best and only way to live with chronic health problems is to arm yourself with knowledge to the best of your ability, and then simply take each day and each decision as it comes. We’re doing what we can nutritionally, supplementally (adding in vitamins A, D, E, & K), and figuratively drowning him in water as he buckles down and has been drinking 8 glasses of water a day. Sometimes you just have to run with the little things you can change.
