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!

—————————————————

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.

—————————————————

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.

Wed., Back in Cincinnati

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.

Test Results

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.

Cincinnati: Tuesday

This morning Michael had a CT scan with contrast (dye injected) and then the data was processed into a 3D resolution of his body and organs. This afternoon we met with the three groups of Dr’s who will be doing different kinds of scoping tomorrow afternoon (1pm).

* The first doctor we saw is a gastrointestinal doctor of some sort (Dr. Putnam)–he will be scoping to see how his esophagus looks, going down into his stomach and putting metal clamps onto the hole in his stomach left from his feeding tube. We are hoping this will be sufficient to close it up and stop the leaking–the clamps will fall out naturally in 5 weeks. He will also be stimulating Michael’s pancreas to do enzyme testing–there is some question as to whether his pancreas works correctly and they believe he may not be digesting his food properly, flushing the food out before he can absorb nutrients–which has caused his long battle to gain and keep weight on. He has said that he will place large sums of money that Michael does not, in fact, have Jeune’s but another syndrome (Shwachman-Diamond Syndrome) that would account for his white cell problems, weight issues, and rib cage deformities. The enzyme analysis will help determine that and we will have results in 10 days. He will also place a tube down his nose with a probe on the end that will stay in his nose over night at the hotel and take readings that will help determine if he has reflux.
* Dr. Rutter is an ENT and he will be doing a rigid scope that will be focused on seeing the extent of the issue with the collapsed airway. He is apparently “the” doctor to see for these airway issues and we are lucky to have him seeing what there is to see. He’ll also be taking biopsies and samples to check for infections and bacteria that have been missed.
* Dr. Boesch is a pulmonologist and will be doing a flexible scope that will be going deeper into the lungs to see the condition of the lungs and will be trying to get into the bottom right lobe that is completely non-functioning at now, collapsed–he wants to see if there is any possibility of salvaging it. He showed us the results of the scans and it was, to be honest, disturbing to say the least. I have seen many x-rays of Michael’s chest, but the 3D technology takes it to a new level and I have never seen anything like his right rib cage–nor had the doctor, I believe. I will scan the picture and send it once I’m home (for Craig, at the least, who will likely be interested to see it). The ribs are a mess of abnormalities and deformities slitting off into y’s at the end, a gaping area that just doesn’t really have anything, very strange. The spine is not just bent to the right but twisted in and twisting and pulling his shoulder blade out of place and putting pressure on the already collapsed right airways. As I said, the bottom right lobe is collapsed and useless, putting strain on the upper lobe which looks “off” and overinflated–tomorrow will give us a better picture of it’s actual condition. The left rib cage looks remarkably normal–he said there are small abnormalities and range of motion issues but really in good shape. The lung itself has obvious damage along the airways, probably from many pneumonias–we’ll know more about that tomorrow as well. It also has the “over inflated” look that the doctor finds curious and says is likely from having to compensate for the right lung for so long. There was more, about issues with the way he may be sleeping because of his shallow breathing being even more shallow and ramifications of that but I started to loose retention of information and he said that was issue for long term after we see what we see tomorrow.

Unfortunately all the lung function testing we did showed his functioning at a total of 22-24% without medication and 35% with medication–this was after a lot of workout so he said that the 25% could be higher than his actual functioning ability. It is possible that the anesthesiologist will not want to sedate him, but all the doctor’s agree that the scopings must be done and waiting a week or a month isn’t going to change anything so it is pretty certain that the procedure will take place tomorrow at 1pm.