Timeline – Page 3 – Get well Clark…

June 2, 2015

Pre-Vaccine: Thrill Seeker, Part 2 (Day +287)

Last night was spent at the ER. Thankfully not ALL night, just a few hours.

Clark’s eyebrow had re-opened twice this week. Once on Saturday, and again on Sunday. Both times the bleeding lasted about 20 minutes (with constant pressure) before stopping. And then yesterday happened…

…Clark woke up from his afternoon nap, crying and covered in blood. To my surprise, I was not very surprised! I knew immediately that it was coming from his eyebrow. Plus, this is not the 1st time this has happened. Before BMT, Clark woke up covered in blood from nose bleeds. The difference this time is, I was calm enough to take a couple pictures. :)

I took Clark directly to the bathtub and held some paper towel on his cut. Then I asked Clark to hold the towel, while I took off all of his clothes and started the bath water. The mess doesn’t bother me (any more), but it does bother Clark. Every time he sees a drop of blood land at his feet, the floor, or on his clothes, he cries. So keeping the bath water running was calming, and helped wash away the blood. I also gave him a peanut butter rice crispy square, which helped a lot!

I realized that the cut re-opening every day for 3 days was not a sign of healing. So, once things started to calm down, I called the on-call hematologist. I needed to know if this meant Clark would need a dose of factor. After going back and forth, we agreed that the location of Clark’s cut was not dangerous (unless it wouldn’t stop bleeding on it’s own). If this had been inter-cranial, an organ, or a joint, we would need to take Clark in immediately. But his eyebrow is only a surface cut that wont leave long term damage. Our plan was to get the bleeding to stop, and go from there.

It did stop. But only for a short period of time. His eyebrow kept re-opening. I used bandages, gauze, and pressure. Nothing was working. Finally I decided to take Clark to ER. We got a private room right away, thanks to the blood covering Clark’s face. The room was actually really nice with a private bathroom and a TV! I was pleasantly surprised. Plus, the TV helped entertain Connor while Clark was getting his IV.

Over the last year and a half, we have had too many let downs in ER when attempting to get an IV in Clark. From those experiences we have learned a few things. 1) Have a Pediatric Anesthesiologist get the IV in, and 2) Don’t let them try as many times as they’d like. Because they will keep trying and trying and trying…. I didn’t have any luck getting the Pediatric Anesthesiologist… but I was able to stop the nurses after the 3rd attempt at an IV. Why hurt my baby 6 more times to continue to fail? I don’t blame the nurses. Clark has never been easy to get a vein (0 success in any ER).

Thankfully the ER visit wasn’t a complete waste of time (and money). The ER doctor was very helpful and sympathetic. He did not try to convince me to have the nurses try again. Instead, he came up with an alternate plan. He washed Clark’s wound to help prevent any infections, and he also wiped out the glue! Apparently glue (instead of stitches) can slow down the healing process. He suggested getting stitches next time, because this will help a cut heal faster, and help prevent bacteria and other germs from infecting the cut. After that, Doc made Clark a pressure bandage to hold him through the night.

Well, it worked. No more bleeding last night. Next step: wait until Clark has had 12+ hours with the bandage on. Hopefully with the newly washed cut, and the constant pressure, Clark will have a secure scab. If it does start bleeding, I will be skipping ER, and taking him to the Treatment Center at UCSF. They give children infusions, transfusions, and draw blood on a regular basis. I’m certain we will have more success there.

May 25, 2015June 2, 2015

Pre-Vaccine: Thrill Seeker (Day + 279)

Even before Clark could walk, he loved to climb. Many of his bruises have been from falling off a chair, bed or couch he has climbed onto. Then Clark started to walk, and run. Leading to more bruising and head bumps.

Just recently, Clark has become more daring. Instead of just walking on the edge of a sidewalk (or any narrow path that drops down on either side), he is now running on ledges! And he doesn’t want to hold my hand.

Last week Clark decided to climb on some bleachers. I was right beside him, and would only let him play on the bottom 2 steps. But still, he managed to fall, cutting open his eyebrow. Face bleeds are known to bleed. A lot. And Clark was no exception. Thankfully Clark’s platelets are high, but he still has hemophilia, so I had to get the bleeding to stop. Half a paper towel roll later, Clark stopped bleeding on his own. This was a great sign. If it hadn’t stopped, we would have had to given Clark some factor. Which can only be done at the doctors or hospital, since it needs to go in through a vein.

May 2, 2015May 31, 2015

Pre-Vaccine: Fun in the Sun and Snow (Day + 256)

As Clark continues to thrive, our family keeps venturing out. We spent a windy day at the Crissy Fields beach in San Francisco to fly kites, as well as dig in the sand. It was pretty cold, but beautiful, and a lot of fun!

The following weekend we rented a vacation home in South Lake Tahoe. We drove up on a clear beautiful day, and enjoyed a midnight stroll to grab some dinner before heading in for bed.

When we woke up the next morning, we looked out the window to see a winter wonderland! It had been snowing all night, and it was absolutely gorgeous outside! It felt like Christmas. After the boys spent a few hours in the snow, we headed out into the blistering cold, but that didn’t stop us from enjoying town. And the best way to warm up on a cold day? Hot chocolate and cookies!

That same afternoon, the sun came out, and turned all the snow into massive puddles. Perfect for their rain boots. :) This also helped us with the drive home, since we no longer needed to put chains on our tires.

April 30, 2015May 31, 2015

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.

April 26, 2015April 28, 2015

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.

April 24, 2015April 26, 2015

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).

Clark 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.

April 12, 2015May 31, 2015

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.

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!

April 2, 2015April 28, 2015

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.

Patrick 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.

March 18, 2015April 28, 2015

Pre-Vaccine: Getting closer and closer to normal (Day +210)

Clark had a follow-up appointment at UCSF. These appointments keep getting easier and easier! With the exception of our drive at 6:30am to beat traffic, and the price of parking… but I can get over that. I still love the fact that there is no more IViG.

Clark continues to amaze the doctors. He is a “normal” thriving, growing boy. So far there is no sign of GvHD (yay!), and all of his blood counts are staying in the average range. The main reason for this appointment was to set up a vaccine schedule. Since Clark’s immunity, antibodies, vaccines etc.. are all in the blood, there is a large chance that Clark’s antibodies and vaccines were “wiped out” when he received his transplant.

To check Clark’s antibodies, they needed to do a blood test. This is not once of Clark’s favorite tests. There was a lot of screaming, and Connor looked so sad for Clark. But even though it took a few minutes to complete, the phlebotomist was able to fill multiple vials with just 1 poke! And it beats having a broviac.

I love getting all of Clark’s test results sent directly to me on-line. I can see what tests were preformed, but even better, I can compare the results from previous dates. Clark was tested for Tetanus, Diphtheria, Hepatitis, Polio, and Pneumococcal. I have not spoken with a doctor (or nurse) about Clark’s test results, but from my non-medical background, things look great! When I compare his pre-transplant results with today’s, it looks like he has SOME antibodies for each disease! This is not full protection, but hopefully it is something.

Some more tests worth noting: Chimera in September was at 95%, December was 98%, and today is 95% . The Chimera test refers to the % of blood that is from the donor. This is expected to fluctuate slightly for the next couple of years, and these are great numbers! Another number you may remember is Clark’s Lymphocytes. For Clark to get out of isolation, his CD T4 cells needed to reach 200. In January, Clark was at 194, but the doctors were confidant that this was high enough. Since then Clark has continued to climb, and is now at 278. Pre-transplant, he was over 1000, but he is making his way back to the top! Way to go Clark!

March 16, 2015April 8, 2015

Measles – a plea for help

As the parents of a child with a weak immune system, I would like to share my thoughts on vaccinations. You’ve probably heard both sides of the argument, but here is my 2 cents.

tl;dr, Please seriously consider vaccinating your child.

Clark is currently out of “isolation”. Meaning, that it is now safe for him to come with me to the grocery store, play at the playground, and dig in the dirt. It is even now safe for Clark to catch a common cold, or even the flu. His immune system should be strong enough to fight these off (it is still a gamble, to some degree).

But to our chagrin, our post-isolation elation was short lived. As soon as we got the good news, measles started to spread in our area. Unfortunately close to 7% of the children in Marin are not vaccinated. That is a lot considering the national average is 2.5%.

Now you might ask – with only 7% risk in a small county next door, why panic? Frankly, at first we didn’t panic, until we learned a little more about the measles. Surprisingly, measles are extremely contagious. How contagious you ask? Try this on for size: if a person with the measles is in a room, breathing, and leaves the room – you can still catch the measles up to 2 hours after they have left the room. I know what you are thinking, “holy sh*t“… right?!? Don’t believe us? Here’s the quote from the CDC themselves:

Measles spreads when a person infected with the measles virus breathes, coughs, or sneezes. It is very contagious. You can catch measles just by being in a room where a person with measles has been, up to 2 hours after that person is gone. And you can catch measles from an infected person even before they have a measles rash. Almost everyone who has not had the MMR shot will get measles if they are exposed to the measles virus. Link: http://www.cdc.gov/vaccines/vpd-vac/measles/fs-parents.html

There is a very high likelihood that Clark would not survive getting the measles. Because of this, we decided to continue to keep Clark in a “semi-isolation”. His immune system is not strong enough to fight off major diseases like the measles, chicken pox, etc.

My husband, myself, and our oldest child are all up-to-date with our vaccines. Clark’s vaccination schedule starts in late March, and I can’t wait. Not only does this prevent our family from catching deadly diseases, it also prevents us from spreading it to others.

So I beg you, please vaccinate your children.