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.

 

IEP (Day +505)

When Clark turned 3, not only was he a year older, but it was also time for him to switch over to another special education program. The Regional Center only helps children from birth until their 3rd birthday. With their help, they transitioned Clark to receive help through the school district.

Our school district set up meetings and evaluations. Clark was evaluated by a speech therapist, occupational therapist, psychologist and a physical therapist. He was evaluated twice with each group. I also had multiple meetings with them to explain the process and sign papers. It was a long, tedious process, but they made sure we were able to complete everything before Clark’s birthday. We are still waiting for an evaluation from the vision specialist though. Once Clark was approved for special education, the school set up an IEP for him.

An IEP  (Individualized Education Program) is a written statement of the educational program designed to meet a child’s individual needs. This is an important legal document that spells out Clark’s learning needs, the services the school will provide and how progress will be measured. Every child who receives special education services must have an IEP.

Clark is now taking Speech therapy 4 hours a week.  In 2 hour sessions, twice a week. He is also taking physical therapy for 30 minutes, once a week. In the short period of time Clark has been in therapy, I have already noticed improvement. We are extremely happy that Clark is able to get such great care in the areas where he needs help to thrive.

 

Eye Surgery (Day +499)

Ophthalmology insisted on taking a closer look at Clark’s eye before Christmas. We were scheduled for December 21st, but the boys caught a cold. As it turns out, an upper respiratory infection mixed with anesthesia can cause blocked airways. Something everyone would like to avoid.  We were able to push Clark’s procedure to December 30th.

So far, all of Clark’s surgeries have been relatively minor. Getting his central line (twice- once for a single lumen, and once for a double lumen), and having them removed, bone marrow biopsies, and now an eye exam under anesthesia. But even though these are all considered safe, they still scare us. There are studies showing a link between anesthesia before the age of 3, with ADHD, learning disabilities, and language delays. This will be Clark’s 7th surgery, and he only turned 3 this month.

Surgery went relatively well. Dr. Moore dilated Clark’s good (right) eye, before going under. Once he was asleep, they put orange dye through his veins to watch where the blood clots/leak was coming from. Then they took pictures, and lasered the leaking veins to prevent further leakage. The fluid coming out of the vessels in his eye can lead to a hormone release, which can cause blindness. This is why the laser treatment is so necessary.

Clark will come in for a follow up surgery to make sure the leak has stopped, and the blood clots are gone. If not, there will be more laser treatment. Lets hope this leak has disappeared, or at least shrunk!

 

Merry Christmas!

If you recall, last Christmas was bittersweet. Clark had an infection in his central line, and we were sent to the hospital for IV antibiotics and close monitoring. The downside- we were in the hospital for Christmas Eve, Christmas Day, and Boxing Day. The up- side? Santa came to deliver gifts to all the children in the hospital, and Clark had his central line removed.

Clark was scared of Santa, so Connor sat between them <3
Clark was scared of Santa, so Connor sat between them <3

This Christmas was very different. It was perfect! No illness, no hospital trips, and 100% joy and love. We enjoyed a morning walk, followed by a delicious (and easy!) breakfast. Then we opened gifts. It took the boys almost all day to open their presents. They took their time, while they played with each new toy. We ate (way too much!), read stories, sang Christmas carols (while Patrick played the tin whistle), and watched the train go around the Christmas tree.

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I couldn’t have asked for a merrier Christmas.

Ophthalmology Check-up (Day +484)

Since Clark only has 1 working eye, we need to be very careful with it. Thankfully his Ophthalmologist is in 100% agreement. Because of this, Clark wears glasses for protection. Clark is so active, it would be very easy for him to get a stick in the eye, or damage it from a fall or hit. Another proactive measure we take, is by visiting ophthalmology every 3-6 months. Just so they can monitor his right (good) eye.

Today we had our visit. It has been 5 months since the last appointment. And things don’t look good. It looks like Clark has a blood clot, or leak inside his eye. Dr. Moore needs to have a better look, which is only possible with anesthesia. No one likes to have their eyes pried open while a bright light is blinding you. Let alone a toddler! Considering the situation, Clark actually sat very still for his check up, but it was still too difficult for the doctor to understand what is going on.

These appointments usually take up half of our day, and then we are stuck in traffic on our way home. I guess that means we’re ordering in pizza tonight!

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.

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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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.

And now we finally know…

There has been one outstanding mystery we’ve been puzzled by.  Why did Clark’s retina detach, and why did it go so bad, so quickly?  Was it caused by DKC specifically, or was it an accident and DKC was the reason it didn’t heal?  Was it totally unrelated?  We really weren’t sure up until about a week ago.

On August 29th, UCSF had a visiting scholar give a speech on Dyskeratosis Congenita (DKC), Dr. Tony Xiao.  Dr. Xiao was a visiting dermatologist who was studying the skin and nail abnormalities with BMT patients. After spending a month with the BMT team at UCSF, he wanted to speak on a topic that covered both dermatology and bone marrow transplants.  DKC was the perfect topic.  Some of the early signs of DKC are fingernail and toenail dysplasia, leukoplakia of the mouth, and pigmentation abnormalities of the skin.

Dr. Xiao came by to take a look at Clark and talk to us.  My first question to him was whether he thought Clark’s detached retina in his left eye was due to his DKC? He responded by saying, “…typically no.  Eye problems are not usually associated with DKC, unless there are brain calcification as well… ”

To which I answered, shocked, “actually, he has brain calcifications…” According to a CT scan we had 8 months ago as well as an MRI 3 months ago, Clark has scattered spots of calcification throughout his brain.  So I was instantly curious… “what does that mean??”

Dr. Xiao then said,  “Oh… Then that means that Clark has Revesz Syndrome.”

And there it was… an exact diagnosis (or at least as exact as we can expect with this relatively unknown condition).  Clark has Revesz Syndrome.  We finally know exactly what we are dealing with.

Revesz syndrome is a specific variant of Dyskeratosis Congenita. 

Features that distinguish Revesz syndrome from general types of dyskeratosis congenita include:

  • excess fluid in the retina of the eye (exudative retinopathy)
  • brain abnormalities such as cerebellar hypoplasia
  • cerebral calcifications that lead to unsteadiness and balance problems
  • Growth retardation both in utero and after birth
  • Cognitive impairment is greater as well

Up until this point, we really didn’t have any correlation between the DKC and his eye problems.  But finally bringing it all together, we can better know what to expect in the years to come.

Why did it take so long to get here? From what we understand, DKC is a very new disease. Every doctor we spoke with about DKC had to run into a darkly lit library and read up on it before answering any of our questions. So most of the answers we received were just paraphrasing of medical journals, rather than speaking from experience. It was nice to have a team with enough practical experience to finally put the two together.

Thank you UCSF!