Month: April 2015

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Pre-Vaccine: Dead Vaccines (Day + 253)

Clark has finally started getting his vaccines! Yay! This is very exciting for us since Clark needs the extra protection while his immune system is still weak.

Most children have their vaccines spread out over a few years, including booster shots. Clark will be on the fast-track to completing his vaccines. For the time being, Clark will only have “dead” vaccines (non-live) to prevent him from actually contracting the virus’. Clark has now had 2 rounds with about 5 shots each. In 8 weeks he goes in for his last round of booster shots.

If you can’t remember getting your last vaccine, they can be a bit painful.  Especially when you end up getting 10 shots in 4 weeks.  The crying was to be expected, but the little bumps (like a muscle knot) on each thigh where he was injected, was new to me. One of the injections was so painful that Clark refused to walk for almost 2 days! So we gave him a little Tylenol before bed, and held him throughout the day. :( Apparently this is common for some of the vaccines. Other than that, Clark has been great. He doesn’t fight me while he is getting his vaccines, and he forgets the pain quickly.

1 month after Clark’s last dose of “dead” vaccines, he will have labs drawn to make sure he is maintaining these new antibodies. If all goes well, we start talking about giving Clark his “Live” vaccines. These are the vaccines that I am impatiently awaiting. Even though Measles seems to be off the radar, Rotavirus is still common, and can be dangerous.

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Scientists have discovered underlying genetic cause of DKC

Some positive news has come out of the Queen Mary University of London this month.  Scientists have discovered the underlying genetic cause of Dyskeratosis Congenita (DKC).

Published in the Journal of Clinical Investigation, the researchers used the latest genetic sequencing methods to study 31 children with the disease and discovered a defect in the biological process known as deadenylation. This is the routine breakdown and recycling of the body’s messenger ribonucleic acid (mRNA) – the molecules which transcribe instructions from DNA to make proteins.

This is the first time a defect in the deadenylation process, controlled by the poly(A)-specific ribonuclease (PARN) gene, has been found to cause a genetic disease. Until now, scientists have believed that DC is caused by defective telomere maintenance (the caps of chromosomes that shorten with age). However, this research has shown that in some of these cases it’s the deadenylation deficiency which impacts the telomere maintenance, thereby causing the condition.

Source: Read more

The bottom line, is that these new finding should lead us very quickly to identifying the condition “definitively” in patients.  Up until now, they have had several indicators, along with a broad set of symptoms, that has led them to be “fairly confident” that someone might have DKC.  With these new findings, testing will be more direct, and will lead to a definitive yes or no answer as to whether a patient has DKC or not.

To Beth and I, this isn’t hugely impactful – today.  But it is our hope that knowing the underlying condition with precision, will allow researchers to focus there efforts on curing this underlying condition.  And to us, that represents the best hope so far in finding a cure.

As a side note, for those of you eager to share the excitement directly with the authors, they have put together this short video of their findings and their methodology.  Needless to say, it requires a lot of understanding of the underlying medical conditions and terminology to fully comprehend – but I think you can pick up on the giddy excitement and joy of the findings regardless.

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Ophthalmology

We haven’t gone into much detail on Clark’s eyes yet. But, considering it is believed to be related to his Dyskeratosis (DKC), I think this is relevant to the blog.

Shortly before Clark turned 1, Patrick notices that Clark’s left eye was looking ever so slightly outwards. Unfortunately we couldn’t just see an eye specialist when ever we feel necessary, we need to “follow protocol”. Thankfully our pediatrician referred us to an optometrist, even though he saw no such eye wandering. He actually said that the bridge of Clark’s nose was wide, making the wandering look like an illusion.

One optometrist, a pediatric optometrist, an ophthalmologist, a pediatric ophthalmologist and 2 pediatric retina specialists later…. And we find out that Clark has a torn retina. And within the time it took to move up the ladder of “specialists”, Clark went blind in his left eye. We were told that it might have been prevented if caught sooner. Unfortunately we acted as quickly as possible, but the “system” didn’t react with the same intensity.

I’m still learning about Clark’s eye. And for some reason, learning about blood conditions and Clark’s BMT seem to make more sense to me than understanding the eye.  So, please bear with me as I try to explain.

From what the specialists could see, Clark has Exudative Retinopathy. He has many fibrous vessels in his eye (more than normal). They believe that a vessel burst, and caused a bruise. Normally a bruise would stop bleeding, and slowly dissipate. In Clark’s case, the bruise didn’t stop bleeding (possibly due to hemophilia OR low platelets). It caused a slight tear in his retina, and the blood pushed it inward. Unfortunately the retina detached right at Clark’s optic nerve, causing the blindness. If it has been anywhere else, it might have been easier to treat.

Exudative Retinopathy is a possible symptom for Clark’s specific Dyskeratosis, Called Rêves Syndrome found on the TINF2 gene. It is common to have it on just one eye. We are closely watching Clark’s right eye for wandering, to help prevent total blindness.

This brings us to Clark’s appointment! Clark finally met his new Ophthalmologist last week. He wanted to meet Clark, and make sure he wasn’t having any new vision problems. We were also assured that Clark is taking the correct eye drops daily. The good news is that Clark will be seeing a Pediatric Retina Specialist! These are hard to come by. We are scheduled to see him in 3 months, once the doctor’s paperwork is in order (he is moving here from London).

DSC03719Clark now has glasses. Not prescription glasses, but safety glasses to protect his right eye. We were pretty hesitant at first, but after looking at MANY different styles, we finally found a pair that we think look adorable on him.

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Pre-Vaccine: Just the Tip of the Iceberg (Day +235)

As Clark gets closer and closer to his 1 year anniversary, (or as they say, his Transplantiversary) and since he is doing so well, I am starting to try and let the boys live normal lives again. This isn’t easy (for me!) because I am still worried about Clark getting sick! Even though the doctors told us that Clark will be fine.

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So, over the last month, we have been a busy family! In April, we decided to drive up to Oregon for a 3 day trip. What is normally an 8 hour drive, turned into 12 hours with kids! We ate at restaurants, explored new towns, beautiful gardens and went hiking. On our way home, instead of driving the 8 hours in one shot, we stopped half way, in Mt. Shasta for the night. Before even checking into our cabin, we drove to the top of the mountain to play in the snow! This was Clark’s 1st exposure to snow! Since this was an unexpected stopover, the boys rain boots did not work as well as winter boots might. But thankfully I had packed warm jackets, hats and mittens. Because of the boys lack of exposure to “cold” weather, Connor was ready to leave after 15 minutes. But Clark could have kept playing despite his wet, freezing feet!

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Pre-Vaccine: A little time off (Day +225)

Sometimes I catch myself being a “helicopter mom” to Clark. Following close behind him, ready to catch him if he stumbles. “Hovering” when Connor and Clark are chasing each other or wrestling. Patrick keeps having to remind me that Clark can handle his tumbles now.  He doesn’t bruise the way he used to. I’ve even allowed the boys to play in the dirt (a bit), since the bacteria in the soil is no longer a danger to him. This freedom Clark now has, is giving me some freedom as well. I still worry, but sometimes I just have to close my eyes and trust that Clark is strong enough.

As a test to my new freedom, Patrick and I had an opportunity to take a night away. As in, no kids for a WHOLE night!! We have NEVER done this before!

Patrick’s mom had some time off, and wanted to come down for a visit. Only a 2 week visit, not the 5 months like before. ;) Connor had recently been asking for Grandmom, so this was perfect timing. When she offered to watch the boys so we could get some TLC, my 1st thought was “That wont be possible”…. until I realized that Clark is no longer on his medications (just some eye drops), AND he doesn’t have a broviac! So, Patrick and I said “HELL YEAH!”

On Day +201, Patrick and I stayed at a cute English pub with just 7 rooms, a pub, restaurant and a “snug” (a cozy, warm parlor room off the pub) just for hotel guests.

DSC03047Patrick and I had the most wonderful night away, filled with a candlelit dinner, games in the parlor, and a luxurious sleep in our king sized bed. The next morning we were able to work off our full English breakfast with a steep hike overlooking the ocean.

“I intensely love my children, but only mildly miss them [today]…”   -Patrick

Patrick won “quote of the day” with his quip about the elation and sadness of a 1 day escape from parenthood.