You’re a special kid…

I don’t know what it means to feel like I am different from everyone else and that I don’t fit in with the world around me. I know that Michael does, and that it has been something, over the years, that has weighed on him. Jeune’s was so rare, we met one little boy when they were toddlers, another little girl when he had his rib cage expanded at five years old, and one other little baby girl when he was young. It meant a lot for Michael to meet Clarke, I know I already said this before, but I didn’t realize how much until I read an email he sent to Clarke last night:

I’m so happy that I met you, you’re a special kid you know that and it makes me feel better that there’s some one out there that’s just like me, and I hope that we can become great friends. I feel your suffering, its not very pleasant because I get many of the same medical care as you do, the shots the tests and more shots-it’s horrible and its not fun at all, yet we get thru it all the same. (posted with his permission, of course)

They are both special–and they do get through it all the same, and I’m proud of both of them and I know that the world is a better place with them in it–and I’m a better person for knowing them.

November Cincinnati Results

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.

Bone Marrow test results

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.