Endoscopy and Colonoscopy (day +946)

Instead of going home like we’d hoped, Clark had to be prepped for an immediate endoscopy and colonoscopy. This was a procedure that we had previously discussed, so agreeing to have it wasn’t a difficult decision to make. I was, however, hoping that we could have scheduled the procedure in advance instead of expediting the process. Having 3 kids that all need attention is very difficult when one is in the hospital.

Before the colonoscopy, Clark’s GI tract needed to be empty, so Clarkie had to stop eating (except for jello!). He also had to start a mild laxative called Miralax. This is a powder that the nurses mixed with apple juice. Over the next 2 days, Clark had 21 packs of Miralax with 5 litres of apple juice. He gulped down the first litre, but the next 4 litres were a challenge.

The procedure went well, but Clark’s large intestine, esophagus and stomach all looked fairly normal. There was a small patch of swelling in his stomach, and a few dead cells, but there were no signs of bleeding. This doesn’t mean that there isn’t bleeding in his intestines. It just means that the bleeding must be in his small intestine — an area that the scopes cannot reach.

We have discussed a capsule study with Clark’s team of doctors. This is a camera in a pill capsule that is approximately the size of a large vitamin pill, which most patients can swallow. The camera takes multiple pictures on the way down through the GI tract, and it saves the images to a device that Clark will wear around his waist. We will schedule this procedure for another time as there is a lot of prep work to be done first. Since Clark is too small to swallow a capsule that is so large, he will need another endoscopy​ to place the capsule past his stomach.

Clark had another ultrasound to check his liver and spleen. His spleen is slightly enlarged, but nothing to be concerned about; some people just have larger spleens.

Clark finally went home on Thursday night. He was just in time to enjoy two birthday parties over the weekend!

Blood transfusion (day + 943)

I received the call that Clark needed a blood transfusion; his hemoglobin was dropping too fast, so they wanted him to come to ER immediately. However, considering it was rush hour, and the kids were hungry, we decided that the best course of action would be to take the kids out for pizza. It was well worth it, especially since there is a play structure at the restaurant.

Clark arrived at the Children’s ER around 8:30pm. It took 2 tries to get Clark’s IV. He was not happy about that, but I know it could have been much worse. Clark is so tough, so seeing him scream and cry hurts my heart. Clarks transfusion started at 11:30pm, and was given slowly over a 3 hour timeframe.

Clark was admitted to the hospital around midnight.


Knee trouble continued (day +933)

I thought Clark would be discharged from the hospital after his blood transfusion (and a little sleep) on Saturday morning, but the doctors had other plans. Clark’s hemoglobin was dropping faster than they felt comfortable with, so they wanted to do some extra tests. They drew blood to check for infection and other abnormalities. He gave a stool sample and a urine sample; they found microscopic amounts of blood in his stool, but his urine results came back entirely normal. They also gave Clark another ultrasound to check all his abdominal organs, particularly his spleen and liver. His spleen was slightly enlarged (possibly the reason for his drop in platelets), but it wasn’t large enough to be of concern. Everything else looked normal. Some additional blood and stool test results would take a few days to come back.

All in all, the day was quite boring and we still didn’t know why Clark was losing blood. 

From what I understand, there are two possible reasons for Clark’s blood loss. One possible reason is because of Clark’s bone marrow. Maybe it’s not producing enough blood; could this be Aplasitic Anemia again? Or could it maybe be a blood cancer, such as leukemia? Or is it something like myelofibrosis? The other possible reason is that Clark is losing blood. This can happen in his stool, his urine, or a hemorrhage. We needed to find out whether enough blood is being created, if it’s being destroyed, or if he’s losing it (through his GI tract).

We had the choice to go home or to wait one more day to see the GI specialist who would be doing her rounds the following morning. We decided to stick around, because the soonest GI appointment Clark could get was 3 weeks away. We needed some answers.

The rest of the day was filled with watching movies, colouring, and looking out the window to count cars and buses as they drove by.

Sunday finally rolled around, and we spoke with the GI doctor. Her opinion was that Clark has a GI bleed… somewhere. It could be a fissure or polyp, which are fairly easy to fix, or it could be something more complicated — maybe a vessel that is leaking. The possibilities sound endless, and I am still trying to understand them. The doctor was playing this off as something typical for a 4-year-old, with an easy fix, but we know Clark isn’t typical. So far, there haven’t been any easy fixes along his journey. We agreed that Clark would need an endoscopy and colonoscopy to check his GI tract for any bleeding. We will have to schedule this procedure for Clark. 

In the meantime, she wanted an abdominal X-ray to check for constipation. Apparently, this is a “normal” reason for a 4-year-old to have blood in his stool. However, since Clark has no symptoms of constipation and X-rays expose Clark to unnecessary radiation, Patrick and I vetoed that option. Another idea was to give Clark a Meckel’s scan. This would check his large bowel for any abnormalities, such as obvious bleeding or inflammation. The Meckel’s scan uses a radioactive dye; we also vetoed this option. The endoscopy and colonoscopy would give the doctors a better visual without the radiation, so we decided to wait for that. As for immediately, we could finally go home. 

Our short-term plan is to schedule Clark’s procedures and have weekly blood tests to watch his hemoglobin level. Clark’s hematologist thinks that bi-monthly CBCs should be sufficient. I hope he’s right. However, since I have the lab orders, I’m planning to take Clark weekly for his CBCs until results prove that twice a month is enough.

Knee Trouble (day +927)

On Thursday night Clark began complaining that his leg hurt. It started around bedtime, so I carried him up the stairs to his bed. I knew this wasn’t a tactic to stay up later because this isn’t the first time he’s had pain in his legs. He went to sleep without trouble. 

But the next morning his leg still hurt. He wouldn’t bend his knee, nor would he walk. Thankfully, it didn’t hurt when he was sitting, only when he stood or tried to walk. As the morning went on, the pain continued. 

It is very common for patients with hemophilia to have joint bleeds. Basically, this is like a bruise that won’t stop bleeding into the space of a joint. Joint bleeds need to be treated seriously because without immediate treatment, the blood will slowly break down the cartilage near the joint. This will cause long-term problems such as painful movement and arthritis. It’s not deadly, but it is a concern to treat seriously. Clark has never had a joint bleed before, so we weren’t sure exactly what to look for.

We decided that the best thing to do was to call hematology. Hematology agreed that pain preventing Clark from walking and bending his knee was a potential indicator — better to be safe than sorry. Clark was immediately scheduled to go in to hematology at 1pm on the same day. They did a full ultrasound on both of his knees, as well as his hips. No bleeding! Good news. Clark’s pain had since subsided, and it is possible that this was just growing pain. 

Since Clark, Eve, and I were already at the hematology clinic, we decided to tack on Clark’s annual visit. This included another CBC, general education, and a visit with physical therapy. 

We have also enrolled Eve and Clark in a hemophilia study. This is an anonymous study to help doctors understand hemophilia better. Eve does not have hemophilia, but this test will be able to tell if she is a genetic carrier. While we were there, they did a blood test on both kids to find out what gene the hemophilia is on. (As a reminder, Connor has already been tested and does not have hemophilia, so he does not have the gene. He won’t be participating in the study.) It’s not easy watching your babies get poked for a blood draw, but I think it is very important to help the medical community. 

Things took a turn as I was driving home; Patrick called me. For the record: I don’t talk on my phone while I drive, so I knew this must be important. He knew I was on the road and wouldn’t call me unless it was absolutely necessary. And it was absolutely necessary. Patrick told me to turn around and head back to the hospital. He’d just spoken with the doctors, and Clark needed a blood transfusion because his hemoglobin was at 5.5 (normal is 12). 

UCSF has a Children’s Emergency Room — as in, children only. I love this. The doctors and nurses are specialized for these tiny, fragile humans. They know how to get an IV into his tiny veins. Most nurses that primarily deal with adults have a difficult time getting an IV in Clark. By “difficult” I mean that they have had zero success. There is also no waiting room at the Children’s ER. Clark was admitted, sent to triage to check his vitals, and had a room within 10 minutes. 

Shortly after, Patrick and Connor met us at the hospital. Being in the hospital environment with three kids can be a challenge, but it was nice to have Patrick’s support. This was Clark’s first blood transfusion since his BMT two-and-a-half years ago. Unfortunately, Connor must have caught a 24-hour tummy bug, because he started throwing up while we were all together. Conveniently, the room was full of vomit bags and he was otherwise acting and feeling completely normal. Patrick was able to stay until midnight to make sure there was a plan for Clark. He wanted to stay longer, but the other kids needed to get some sleep in their own beds. 

This was a long day. After we arrived at ER, Clark had an IV put in. They did another CBC, more tests, and checked his blood type so they could order his unit of blood. Fortunately, despite all of the waiting, Clark was able to watch TV (with lots of kid-friendly movies) and stay cozy in his bed. He stayed awake until after 2am, by which time Clark was admitted to the hospital in the Hematology/Oncology Unit. Clark was in a surprisingly great mood all night, right up until he passed out from exhaustion. 

A red blood cell transfusion started at 4am and went for 3 hours. Thankfully we were both sound asleep for this. 

Iron Deficiency Anemia (day +845)

The stars of fortune must have aligned, because we had the opportunity to visit Aulani, Disney’s Hawaiian resort, for Clark’s 4th birthday! Technically, we spent his birthday on the Big Island, but for 5 magical days prior, we celebrated in Aulani. This was absolutely perfect for Clark, since swimming is one of his favorite things to do (besides eating chocolate and ice cream). Instead of amusement park rides, the kids swam in the lagoon and played in the sand; they enjoyed the infinity pools and hot tubs, the water slides and lazy river. They even had a giant splash-ground. 
Traveling with a medically-fragile child has its challenges. Fortunately for us, Clark was stable and healthy for the vacation. 
Before our travels, Clark’s hematologist thought it would be best to check his CBC, in hope that the iron supplement was doing its job. Thankfully, it was! Clark’s hemoglobin had increased to 7.6 (before he started the supplement, this number was 6.6). That’s not a huge jump, but it had only been 6 days since his last CBC. Clark’s platelets were at 68. They were out of the danger zone and seemed to be holding steady. Platelets help blood clots form, so anywhere under 50 is considered too low to play sports or ride a bike. For most people, a transfusion is necessary if the platelets drop below 10, but because Clark has Hemophilia, his doctors recommend a transfusion if he drops below 30-40. (As a reminder, Clark has mild Hemophilia A. This means that he has only ~17% of his Factor VIII (8). Factor VIII is also vital to help blood clot.) As well, his WBC (white blood count) was healthy and in a normal range.
Packing requires a little extra planning for Clark. We bought Clark a wet suit to keep him warm. You’d think the Hawaiian weather would keep him warm, but we’ve learned that Clark gets cold in a heated pool in the California sun. This is possibly due to his low hemoglobin. Despite his healthy blood counts, we must travel with his medication, notes from his doctors, and a medic-alert bracelet. Most of Clark’s medications are for his Hemophilia (intravenous factor treatment, medication for mucous bleeds, and a nasal spray for immediate results). Clark also takes 3 eye drops, 3 times a day for his Glaucoma and pressure in his left eye. And now, Clark’s iron supplement. 

Watching Clark have the amazing birthday that he deserved was definitely worth all of the extra planning and packing.    

Annual Hematology visit (day +821)

There is an odd satisfaction in getting CBC labs drawn, which is done just to see that everything is normal — or at least on a trend towards normal. This trend towards normal has generally been the case for Clark since his BMT. 

Unfortunately, during his last visit with hematology, two of Clark’s lab results came back low. Before his BMT, Clark would have a blood transfusion if hemoglobin was below 8 (normal is ~12). On this result, Clark’s hemoglobin dropped to 6.6! Panicked Mama here! His platelets were holding steady in the normal range (normal is 150-450) after his BMT, but they also came back low at 71. Thankfully, 71 isn’t in the “danger zone,” but there must be a reason for the drop. Why?
Clark’s hematologist personally looked at Clarks blood smear for any abnormalities. Good news! Clark’s blood has many new cells. His bone marrow is producing blood, and his white blood cells look great. So, it doesn’t look like this is aplastic anemia.
Since iron is generally found in hemoglobin, Clark now has iron deficiency anemia. He has started taking iron supplements, and he will have another CBC in a couple of weeks to see if this improve his blood counts. 
I have also noticed that Clark occasionally has a small amount of blood on his toilet paper after going to the bathroom. The hematologist believes this may be an indication of the cause for the drop in blood counts. I’m sure there will be more tests to come. 

Leukoplakia (day +797)

Dyskeratosis Congenita was originally described as a triad of conditions: reticulated (net like) skin pigmentation, nail deformities, and oral Leukoplakia (white plaque). Even though this is an outdated description, those three physical aspects still hold true with Dyskeratosis. 

For these reasons, Clark sees his regular dermatologist every 6–12 months. She checks him head to toe for any skin abnormalities. She also monitors the deterioration of his fingernails and toenails, since he has Dysplastic nails. During Clark’s last visit, she noticed some Leukoplakia on the inside of his cheeks and tongue.

Leukoplakia is white plaque that forms on the tongue or the lining of the mouth. It can become painful, making it difficult to swallow or chew. Fortunately, Clark doesn’t have any pain.

There is the possibility that Leukoplakia can become cancerous. Because of this, Clark’s dermatologist referred him to see an oral specialist. I wasn’t sure what to expect; I was worried the specialist would need to do a biopsy. Thankfully, all he had to do was paint a blue dye in Clark’s mouth. If the Leukoplakia is cancerous, the dye visibly changes colour. It didn’t! Clark’s mouth is cancer free.

Due to the nature of Dyskeratosis, Clark will need to have his mouth monitored annually to be sure it remains cancer free.


More eye surgeries (day +679)

Since Clark’s initial eye surgery in December, he has had 4 more. One in January, March, April and June. Clark would not let the doctor look at his eyes during a regular appointment. In fact, Clark shut his eyes as tight as he could, and hid his head. Part of me was frustrated because Dr. Moore just wanted to see whether the bleeding had disappeared or not. But part of me was completely understanding, and sad for Clark. What 3 year old wants to be held down with a bright light shining in their face? Especially a 3 year old with light sensitivity?

After discussing with the doctor, we chose to put Clark under anesthesia again for a better look (January’s surgery). This would also give access to more lasering if necessary. As it turns out, Clark still had a little pooling of blood in his right eye (his “good” eye). It was much less than before. Dr. Moore could also see more open vessels where the blood had dried up, so he was able to laser a bit more.

This situation repeated for March, April and June’s surgeries. After Clark’s last surgery in June, we agreed to give it a break. Dr. Moore was fairly certain he had lasered everything necessary. And even though we couldn’t be 100% sure without putting Clark under again (or a forced eye exam), we decided to give Clark some extra time to get used to the idea of having the ophthalmologist take a closer look. Ophthalmology wants regular visits every 3 months, so we want Clark to enjoy his appointments…or at least, not be scared. There never seems to be an easy decision when it comes to my baby’s health, but we do the best we can under the circumstances. Thankfully we have a lot of faith in Dr. Moore. He is a specialist from London, and continues to actively seek out cases like Clark. Even other patients with DKC that have major eye complications tend to be different from Clark. Having a rare disease can be very complicated because it is so rare, that every patients problems and outcomes can differ. 

Speech Therapy (Day +541)

Clark’s Speech Therapy is taught in a pre-school setting. His class has 5 other students, his teacher, and the teachers assistant. Clark was very shy at the beginning of the school year, but he has slowly warmed up to his classmates and is now making friends. We’ve already been on one play date after school, and will hopefully have more to follow.

Once a month his class has show-and-tell where the kids are able to tell the class about a special toy or book. They also have a “cooking” day where they make their own snacks. This usually consists of decorating a cookie, or making an animal face with a slice of bread, m&m’s and pretzels. Clark takes great pride in his projects, and loves to eat them afterwards. The kids work on enunciating words, sounds and full sentences while they cook, create art projects, sing and read stories.

Clark has come a long way since starting speech. He is now a little chatter box! I often need to ask Clark to repeat himself, but his language is becoming more clear each week. And because I understand what he is saying (most of the time), his temper tantrums have drastically reduced! We are all happier for it.

Physical Therapy (Day +536)

Generally Clark takes physical therapy once a week, for 30 minutes. Unfortunately his therapist broke her knee while skiing. Clark’s therapy is on hold, but will hopefully be back to class by late spring. At that time, we are planning to double up on some sessions to help Clark catch up.

Physical therapy is one-on-one with his teacher. They go to a “gym” with mats, swings, steps, balance beams etc.. This is play based therapy, so Clark has a great time. It’s even more fun than going to the park!

Clark is very strong, and has great muscle mass. The reason for his therapy is due to his balance and coordination. Even though Clark started climbing at a very young age, he was delayed with sitting up, walking, and jumping. Clark has an occasional shake (tremors). We don’t know what the cause is, but occasionally his legs and hands will start to shake for no reason. The tremors, plus his lack of depth perception due to his limited eyesight seem to be leading causes for his physical delays.

While we wait for PT to start up again, I have enrolled Clark in gymnastics. Clark loves practicing his somersaults, balancing, and jumping. And I love the fact that it is a structured class, and he has to follow directions. :) I don’t usually compare Clark’s activity to other kids since we are already doing what we can to help out, but watching him participate with other kids of the same age, really makes his delays stand out.

Since starting, Clark can jump farther, and can safely climb the stairs. This is huge, especially since we moved to a house with stairs in July. When we first moved in, I had to hold his hand every time he needed upstairs. That quickly changed to watching him, and now he can independently walk up or down on his own. We still encourage him to hold the railing, because accidents can happen at any time.