Update on Mister T

It's been a while since I've posted anything on T, so I thought it was probably becoming overdue. First of all, he's still the same wonderful boy he's always been. He's kind, gentle and generally happy. With that being said, he's become more of a toddler, has started having times of being very fussy, is into everything, is constantly looking for mischief and now intentionally does "bad" things for attention. The good news is that I believe a formal diagnosis for this would be that he's 3 years old.

Since Torsten's positive diagnosis for Pallister Killian Syndrome, things have started to make sense. So many of the questions we have had since he was born, now have at least partial answers. We've found a wonderful community of parents of PKS kids, who many times are the only other people in this world who understand what we're going through at any given moment. We all communicate through Facebook, which has also given a previously frivolous social media outlet new meaning to us. This group of people collectively hold more knowledge on our children's condition than most/all doctors in this world combined. There are no words for how amazing these people are and how much positive support we're all able to offer each other.

A few months back, we had the appointment at Children's to have T's ticker checked out. He sat through a very lengthy ECG like a perfect little gentleman. The test showed absolutely nothing wrong with his sweet heart. They said that there was only a very small area of the heart that they were not able to view (~3%, I believe), but that given the health of the rest of the organ, he looked great. We then met with his new neurologist two days ago at Cook's, and although she reiterated that he has an 80% chance of developing seizure activity, there is still a 20% chance that he won't. We're hopeful for the 20%, and so far, things are looking good there as well.

We're attempting to get Torsten into school as soon as possible. However, the interviews, waiting lists, applications, tuition and fees, etc. are an absolutely giant hurdle. The first school I called told me that I was over 3 years behind, since most special needs parents know that their children will require special schooling and have their kids on waiting lists from birth, or even before. According to her, we were "extremely late to the game". The search for the right school has been frustrating at best, but we're still looking. In the meantime, Torsten has 6 therapy appointments every week and is still progressing well. He is almost exclusively walking, and only crawls occasionally. He will be getting fitted into his new braces as well as a pair of hip trainers next week, so we'll see if that will help him walk more steadily. In a recent review of his original OT goals from 6 months ago, he had exceeded all of them. And although ST is slower, he's starting to make some sounds that we believe he associates with something he wants. He will get there in his own time, as he always has.

On a recent family vacation, we had Dane and Torsten sleeping in the same room for 10 days. They did so great, that we're planning to put them in the same room at home as soon as our THIRD crib is delivered. The boys are so fun to watch. They play together, mimic each other and never let the other stray far. Seeing them together has brought us more joy than we ever imagined it could. However, knowing that we're bringing home a baby girl in a few months definitely makes me a little nervous. These boys are constantly tumbling all over each other and seem to have little regard for safety or the pain inflicted on each other or us if we find ourselves in their path. I can only guess that she'll be a tough little girl.

Things are definitely becoming more challenging around this house, but overall, we're doing great. Having the boys has been and continues to be our greatest joy. We're excited about the growth of the distillery and our upcoming move into a new facility, and are looking at a potential personal move to Lewisville as well, hopefully within walking distance to work. This pregnancy has been a little tumultuous, but with exactly 14 weeks to go, things are cruising right along and all doctors and specialists say that she is doing great. Unless she has other plans, her arrival is planned for November 20th.

We hope you're all having a great summer!

Love,

Ryan, Tasha, Torsten & Dane

More on Pallister-Killian Syndrome

First of all, thank you all for your amazing support over the last week. We've had a tough month or two, but are ready to get on with our new normal.

After the Dallas ice storm early last week caused our appointment to be cancelled, we finally got in to see the geneticist on Thursday. We arrived with a list of questions, knowing that many of them could not easily be answered, if at all. I've given most of them, with whatever answers we could get below.

We also received the formal write-ups from Torsten's physical and speech therapy evaluations at Baylor. Although it is not surprising, he falls into the 2nd percentile for speech, and below the 1st percentile for physical. We will be re-starting therapy twice each week for both ST and PT. We will be rescheduling the OT evaluation that we missed for our trip to Illinois asap, but will most likely start 2 appointments/week for OT as well.

On the bright side, Torsten has been more proactive with walking. Rather than only taking steps when we initiate it, he has occasionally started turning after standing at a chair or window and will take a few steps away on his own. Although it's small, it's a huge step for him. He's also been experimenting with new sounds. He lacks confidence though, and will rarely, if ever, repeat them when we ask. Although the progress he's making is slow, we're thrilled with anything new and never fail to celebrate it.

Thank you again for all of your love and support. It means more to us than we can put into words.

Love,

Ryan, Tasha & the boys


Q & A with the geneticist:

Q: Torsten's skin sample showed the chromosomal abnormality in 5.5% of the counted cells. Does this mean that he has a "minor" case of PKS? And what does that mean for his other organs? Will they all show a 5.5% abnormality as well?
A: No - the 5.5% does not mean that Torsten has a "minor" case of PKS, nor does it mean anything for his other organs. All it means is that the abnormality was found in the sample, which means that he has PKS. The only way to figure out the percentage of cells with the abnormality in other organs would be to test all organs. Since this is not possible, we have to check for issues where we know they are likely, and treat symptoms if/as they come.

Q: Do you believe we will run into behavioral issues in the future? We can see Torsten already experiencing frustration at not being able to verbalize his wishes and concerns.
A: Some behavioral issues are quite common, but this is something that we should not worry about until it comes. Until then, we should keep up with his therapy and help him to develop his speech and motor skills.

Q: Do children with PKS have a normal life expectancy?
A: Yes and no. If children are able to survive for an extended period outside of the womb, then PKS itself will not shorten the life expectancy of a person with the condition. However, anyone with a neuro-cognitive condition will generally have a shorter life expectancy than a person without. Note: We do not believe this applies to Torsten. The doctor gave examples of how such conditions could cause a shorter life expectancy and it seems to be more about how the individuals care for themselves/attempt to care for themselves which would cause issues later in life. The other scenario would be that a side-effect of the condition could be life threatening (heart defect, epilepsy, etc.).

Q: What are the next steps for us?
A: We will need to see a cardiologist to have a full scan of Torsten's heart and check for any defects. She also highly suggested that we start seeing a neurologist to prepare for the likely possibility that Torsten will begin having seizures at some point in the future. She explained that there are only two pediatric neurology practices in Dallas and that they both take a very long time to get into. Once we are established patients, things will go much more smoothly if/when he begins having seizures and we need to see someone. She would like for us to check in with her once/year to give updates on his health, development, etc. This is more to keep a record of how he's doing than to benefit him personally.

Q: We've always believed we would like to have a larger family. Although we've been reassured many times over the past 2 years that we are not carriers of any genetic conditions, can we be sure this is true, at least for PKS? It was also strongly recommended by our OBGYN that, if we were planning to have more children, we should bank our cord blood just in case it is needed at some point later in Torsten's life, especially since we have no idea where research will be at that time. Opinion?
A: First, PKS is not hereditary. We did not pass/give it to Torsten and it is not possible that we will pass/give it to any other children. We can continue to have children for as long as possible and we will not have another child with PKS. If we do have more children, it is always a good idea to bank cord blood. However, the geneticist recommended donating it to a public bank, since when you donate, you have a better chance of receiving blood/cells if you should need it in the future. The OBGYN recommended banking it privately.

My sweet boys -

Torsten found a water bottle and was "sharing" with Dane

Torsten's official diagnosis - Pallister Killian Syndrome

We were all in Illinois last week to say a final goodbye and to bury our granddad George. I think that by the time the call came in, we were already running low on tears. On Thursday morning, February 19, 2015, the geneticist called us herself while she was on a break from jury duty. Once you've worked with a number of doctors, you know that receiving a call from them directly is ordinarily not good news. 

Torsten's skin biopsy came back positive for Pallister Killian Syndrome. Although this condition is extremely rare, we were expecting these results and were not terribly surprised. We were scheduled to meet with genetics today to work out the next steps and get all of our questions answered, but unfortunately, the Dallas ice storm has closed down most of the city and our appointment was cancelled. We'll be meeting with her asap, but as Ryan and I discussed last night, PKS is so rare, that it's not likely that she'll be able to tell us much that we don't already know.

To help everyone understand a little about this syndrome, I've listed a few questions and answers below. If you have any other questions, please send them over. If we don't know the answer, then they are probably great questions for us to take to our next appointment.

Q: What is Pallister Killian Syndrome (PKS)? 

A: Also known as Tetrasomy 12p mosaicism, PKS is an extremely rare genetic disorder. Pallister-Killian Syndrome occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome 12p. The name Tetrasomy 12p means four copies of the short arm of chromosome 12 and the name Isochromosome 12p tells you that the additional chromosome (12p) is made up of two mirror copies of itself. Mosaic tells you that cells with the extra chromosome exist side by side with cells with a different number of arrangement of chromosomes. We're still researching and trying to learn all of this ourselves. Hopefully we'll be able to share more detailed information soon.

Q: What causes PKS? 

A: No idea. According to the geneticist, this condition is completely random. There is nothing we have done to cause it and there is nothing anyone can do to prevent it. 

Q: Will we have Dane tested for PKS? If we have other children, are they at risk for having PKS?
A: No, we will not have Dane tested for PKS. Dane does not have any symptoms of PKS. He is exactly where he should be for size and development. We have no worries about Dane. Regarding other children, it is extremely unlikely that we would have another child with this condition. We recently read that our chances of having a second PKS child are less than 1/400,000,000. Since this condition is random, we have the same chance as anyone else of having a PKS child.

Q: How many people have PKS? 

A: The total number is unclear, since undiagnosed cases exist. It is thought that there are less than 200 diagnosed cases in the world. However, one US hospital estimates that there could be significantly more than this number in the US alone. 

Q: What are the features of PKS?

A: It is very unlikely that all of the following features would be present. Some features can include: hypotonia in babies (floppiness), developmental delay, learning difficulties, delay or absence of speech, distinctive facial appearance (high round forehead, broad nasal bridge, widely spaced eyes, large mouth with thin upper lip), sparse hair growth around forehead, thin or sparse eyebrows, streaks or patches of darker or lighter skin, high arched or cleft palate, short arms and legs (not proportionate to body), diaphragmatic hernia (hole in muscular wall separating the heart and lungs from contents of abdomen), seizures, permanent hearing loss, heart defects, extra nipples, feeding difficulties and reflux, large big toes and extra fingers, epicanthal folds (skin folds across the inner corner of the eye) and a large tongue that develops after babyhood.

Q: Are there things that Torsten will definitely not be able to do?

A: We are not ruling out anything. We are just now getting back into speech, physical and occupational therapy. We have every reason to believe that Torsten will walk independently (and very soon), will speak and will have as much of a normal life as possible. As soon as we meet with his doctors, we'll begin looking at schools and programs that fit his needs. 

As we have been with every other issue that we've dealt with before, we are grateful that Torsten is ours. We will continue to work with him constantly and make sure that he remains the most happy, easy going and kind child we've ever met. It's an honor to be his mama, and Ryan and I will continue to make sure that we get the best care available for him. Thank you to all of our friends and family for your continued support through this recent diagnosis. 

Love, 

Ryan, Tasha and the boys

Torsten on his balancing bike - Feb. 2015

For more information on PKS, see the following sites:

http://www.pkskids.net/

http://www.rarechromo.org/information/Chromosome%2012/Pallister-Killian%20syndrome%20FTNP.pdf

Torsten, no label

Tuesday, January 27, 2015

I've spent every day of 2015 worrying about my son (and now sons), even more than usual. We've "started over" after taking a break from therapy, doctors, specialists and appointments overall. We're starting over with therapy and are getting fresh evaluations at Baylor over the next few weeks. We started over with a new geneticist and the genetics team at Children's in Dallas. And we started over with the tests. Although I feel somewhat guilty about it, I got to put on the blinders over the past 6 months, let my son be a kid and pretend that everything is fine. It's been a half year of sweet oblivion and I'm already missing it.

We made our first trip to the genetics department at Children's in the first few days of the new year. We spent several hours with counselors and doctors, all of them asking every question imaginable and going over every inch of our son with a fine toothed comb. At the end of the appointment, they came in with a few pages of information and told us they believed our son may have Sotos Syndrome. Of course we'd never heard of it and knew nothing about it. She gave us a few details, then told us that there is a blood test to confirm, but that it's terribly expensive and it was unsure if our insurance would cover it. One look between us and we knew we would be having that test regardless of the cost. We asked that they continue working with insurance, but we wanted the test, and now. An hour later, we were in the lab with our sweet boy, where we'd start over with needles and tests and pain. It's easy to forget how tough your kid is in all the ways you wished you didn't know. He watched the needle go in his arm, gave a little moan and looked at me for help, then just watched her draw blood without another sound. He's our little warrior.

After researching it on our own, we really felt that Sotos wasn't a fit for Torsten. There were so many things that just didn't fit - off the charts large head, extremely tall and high on weight charts, high birth weight and specific facial anomalies to name a few. His head has always been big, but never off the charts. And he's always been low on the charts for height and weight. He was an average sized baby at birth and the facial anomalies that identify SS kids weren't present with Torsten. However, I didn't want to be the parent in "denial", so I kept an open mind while waiting for the test results.

They said the results would take 4-6 weeks, but we got them in 2.5. They were negative. I called our parents, did a little happy dance and we celebrated with a bottle of wine. The counselor who called gave me the name of what they now believed Torsten had, so I made a note of it, told her I'd look into it that night and that I'd call her the next day if we decided we wanted to move forward with the next round of testing. For a few hours, we enjoyed the great news and celebrated that we got a negative test result.

Once we finished dinner and got the kids to bed, we began researching the next possibility, Pallister-Killian Syndrome (PKS). I sat on the couch with my computer while Ryan sat in the chair next to me on his. Barely a word was said for several hours while we both soaked up as much information about this chromosomal abnormality. Not long into our research, it was becoming apparent to us both that this diagnosis fit our son. It really fit our son. Several hours, plenty of tears and tissues later, we called it a night and decided that we would move forward with the next round of testing immediately.

Unfortunately, the test for PKS is not a simple blood test. A skin biopsy will be performed by the doctor herself this Thursday at Children's. They have to cut a small bit out of the back of his arm, send it off for tests and hopefully have results in 2 weeks. Until then, and hopefully after the results as well, our son is just Torsten. There are no other names or labels that apply at the moment and I've decided to enjoy that for as long as I can. The best news we could receive would be that he is just behind. He's had multiple surgeries and has always had a hard time catching up. Even if it's just me being in denial, there's a chance that I'll only able to deny it for a little while longer. Until further notice, I'd prefer to keep the blinders on and pretend that everything is fine. I hope the next time I'm writing, it's to say that everything IS fine and that Torsten is starting therapy and preschool soon. Until then, I won't quit hoping.