PICC #3

Monday morning we came to the hematology floor early to have his bloodwork checked before having his 3rd PICC placed in the afternoon. His platelets came back 22,000–as usually with his platelets, I think we’re again at record low. They decided to go ahead and give him a transfusion even though he had reacted to the transfusion in July–they weren’t giving him near the amount, pre-medicated him with Tylenol and Benedryl (for hives) and ran it slowly. He did fine with it, the Benedryl IV knocked him flat and he got a couple hives, but nothing too bad.

The PICC insertion was pretty rough, and by pretty rough, I mean very rough–he felt like he was in a torture chamber. His first two went quite well, so I’m not entirely sure why this one went so badly. They used the Emla cream (numbs the skin) and were quite generous in using local pain killers but it just wasn’t cutting it and the poking for the pain killers bothered him more than the pain in some ways. To top it off, they sewed it in place and he wasn’t prepared for that–very upsetting to him. His other two were held in place with a thing called a stat-lock that was like a clamp that stuck to his skin and was changed with each dressing change. I see the advantages to sewing it in place as putting it in and out of new stat-locks always resulted in the PICC line coming out little by little–not to mention less things sticking to his skin. SIGH, all in all a very exhausting and terrible day.

Today his spirits have been much improved and he has benefited from the Benedryl IV being out of his system and no more Tylenol 3–not to mention great company and supportive notes and bribes (Craig, you know who you are). It’s difficult to see how the PICC site is doing as it’s a pretty big mess as he bled a bit more than usual due to his platelets being low. We’ll be changing it tomorrow and will see how it looks.

We’re hoping to go home by Thursday, things are looking good for that so far!

Where we are…

It’s been awhile since my last update but it is late so I will try to do a quick catch up. We had planned on having a central line put into Michael’s chest as a permanent IV access for his TPN (nutrition) and blood draws on October 30th. A few weeks before that happened he was hospitalized with a blood infection–he was in the hospital for a week while they hit him hard with a lot of strong antibiotics to kill it off, it was not clearing up as hoped so they pulled his PICC line from his arm (a semi-permanent IV) and sent us home on oral antibiotics with the understanding we’d be having the chest one placed in two weeks. A week before the date we got a call from hematology in Cincinnati (they were also going to do a bone marrow tap while he was put under) and were told that there were concerns with putting him under for the procedure and concerns with his platelets. His GI was out of town so we waited until the following Tuesday before the Friday procedure and Dr. P said that both hematology and anesthesia had serious concerns about going forward with anything that involved putting him under anesthesia and the procedure was cancelled.

Along with his local hematologist we decided to watch his weight and see if we could try to manage without the TPN and if nothing else give him a break without the PICC line. It’s been over 6 weeks now and he has lost an average of a pound a week–a pound in a half in the last week. We saw Dr. P last week and he strongly felt that the PICC should be replaced (PICC lines do not require anesthesia so we can keep putting new ones in when needed every 4-6 months) and the TPN restarted. He felt that the poor nutrition was impacting his respiratory, his ability to fight off and recover from illness, energy, and etc. Michael was very upset about having to have to PICC put back on and understanding that this is something that he will need for the rest of his life. He’s had time to get more comfortable with the idea, but it is difficult for him to accept that this is a long term issue.

Tomorrow we’ll be having the PICC line put in again here in town and then will be admitted to the hospital to ease up to the amount he needs of TPN (we can’t just throw him back on what he was on before, the glucose and etc. can shock the system unless slowly increased). He could be in for up to five days from what we understand.

I know this is all pretty informational, I’ll post a more personal update soon!

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.

Update

A lot of people have been wondering where things are after 3 weeks so I thought I’d write a bit of an update. We’re sort of in a holding pattern now waiting for them to set up consults and the sleep study. I’ve been talking with the scheduler and hope to have some dates soon. The tests they did on Michael’s pancreatic enzymes came back normal, which, if I understood correctly, wasn’t really surprising given his age. The only other test we are waiting for is the genetic testing, which can take up to 8 weeks, and we are at 3 weeks.

I talked to Michael’s hematologist and she is going to call down to talk to everyone and see what plans are and whether they are going to want a bone marrow biopsy before he would undergo any major surgery. Normally with Neutropenia they do one yearly, but due to his lung function issues, they have opted not to take the risk of putting him under for it. She did say that from a hematologic point of view, the change of diagnosis doesn’t change Michael’s treatment as he would be on GCS-F shots either way, so that was good to hear–that what we have been doing is what we would have done if he’d been diagnosed with SDS earlier.

The extra coughing from the cold Michael had is cleared up now, but he is still coughing quite a bit and gets out of breath easily. Our main concerns for the immediate future is keeping his weight from dropping and trying to add some weight on–his face looks like he has lost more in the last week and we need to halt that. They put him on medication last year that did make him gain weight, but he hated the side effects so much (it made him so tired he couldn’t hardly function) that I’m hoping we can find an alternative.

So that is where we are, thank you so much for keeping Michael and our family in your thoughts and prayers, as soon as we know what is happening next, we will let you all know!