I know it's a mouthful, but this is Flor's diagnosis. It is actually the most common chromosomal deletion, which is great because it means that quite a bit of information is available about it. I am going to cover the information we talked about with the genetic counselors this week here, so it may be quite a bit of information, but I think some people, especially family, will want to know what this means for Flor and for us.
What is it?
Everyone has 23 chromosomes from each parent, for a total of 46. In this syndrome, part of Flor's chromosome 1 (on the short arm portion) has been deleted. Each person with this diagnosis may have a different point where the chromosome broke, but all on the short arm of chromosome 1. According to some research, if the end of the chromosome is the missing part, those children are likely to have more severe symptoms of the syndrome. Flor's deleted portion does include the end of the chromosome. This deletion typically comes out of the blue, with no risk factors and typically no chromosomal abnormalities from either parent.
What are the most common problems associated with this Syndrome? Does Flor have them?
Really, after doing some reading on this and talking to the genetic counselors this past week, I really feel blessed because Flor has very few of the major health problems associated with 1P36 Deletion Syndrome, so far. Of course she has some, and there are a few things that we haven't had checked yet, but she is free from any major problems at this point. Here are some of the medical conditions that are common in 1P36 Deletion Syndrome:
Heart problems: Heart problems occur in over half of the children with this syndrome. However, Flor visited the cardiologist this past week and is free of any heart concerns at all. Yay!
Hearing problems: Hearing loss affects 2/3 of the people with this syndrome. However, again, we had Flor's hearing checked recently, and she is fine. She hears slightly worse in her left ear, but still in normal range.
Vision: According to the reports the team from Primary's gave us, about 80% of people with 1P36 Deletion Syndrome have some sort of vision defect. Flor does have a lazy eye that manifests itself mostly when she is upset or really happy, but has no other vision issues. She should see an ophthalmologist annually, as well as the audiologist, as hearing and vision problems can worsen at any time.
Seizures: While I do know that Flor had some seizures as a baby, we have not seen any evidence of seizures in her time with us. We may need to do more testing here, as she could be having minor seizures (zoning out, blank look) from time to time and we just aren't aware that's what they are. According to the reports, half to 3/4 of the kids with this syndrome have seizures.
Problems with the spine: Some people with this syndrome have issues with their spines, the most common being kyphosis (forward curve) or scoliosis (sideways curve). Flor had an MRI of her spine recently and we found out that she has something called
Syringomyelia, which may require surgery (Neurosurgery consult at the end of February). However, I don't know if this is something related to her 1P36 Deletion Syndrome, or not.
Thyroid issues: The studies indicate that if people with 1P36 Deletion Syndrome have thyroid issues, it is usually hypothyroidism, which I don't think Flor has, given that she eats like a horse and hasn't gained a pound since she has been with us. We do need to get her thyroid tested though, to rule out any problems there.
Weak immune system: Many of the children with this disorder are chronically ill, fighting colds, bugs, the flu...etc. In the year we have had Flor, she has only had one runny nose and no flu as far as we could tell. I think the fact that she was in an orphanage has improved her immune system, as she doesn't seem to get sick, even when the rest of us are. However, one thing the counselors pointed out is that these kids often contract diseases like pneumonia and meningitis. Flor did have meningitis when she was a baby.
Constipation: This is VERY common as well with these kids, and well, TMI, but YES....Flor most definitely has issues here. But if that's as bad as it gets, given the list above, we will take it. :)
What other things are common for 1P36 Deletion Syndrome?
Developmental Delay: Every child with this syndrome is developmentally delayed in some way, some more significantly than others.
Delayed speech: According to our report: "Delayed or absent speech has been reported in 98 percent of children....some children use a few words, and a minority of children may develop some complex speech. For many children, receptive language is markedly better than their expressive language skills." The report talks about early interventions and how the children who succeed with speech often had intensive speech therapy starting before age 3. So, while Flor may develop a few words, she has not progressed toward that yet and we recognize that speech will probably not be a part of Flor's life. That said, she is learning sign language and will continue to do so, plus she communicates in many non-verbal ways. As the report said, her receptive language is actually quite good-- she understands much of what we ask her to do and much of simple speech.
Delayed mobility: Children with 1P36 often follow similar patterns for gross motor skills, first rolling over at around 2 years, sitting without support at over 2 years, and walking at an average of 3 1/2 years. Flor walked at age 6, but I don't know when she reached the other milestones. When I was with her when she was age 1, she was not rolling, sitting, or crawling- typical milestones for a baby her age. Some children do not learn to walk at all.
Difficulty with fine motor skills: Most definitely true for Flor. She has a very difficult time holding a pen, pencil, or crayon for very long and does not know how to use it properly without aid. Having more regular OT should help with these things.
Similar Appearance: There are some distinctive features that most children with 1P36 Deletion Syndrome share, including microcephaly (small head), large, rounded forehead, a small pointed chin, low set and unusually formed ears, eyes set in well defined sockets, and a flat nasal bridge. Flor has most of these.
Small size: Some, but not all, of the children with the disorder are very small for their age. Uh, yes. If you have ever seen Flor, she looks more like a 4 year old than an 8 year old. Small hands and feet are also common. Flor's hands and feet are pint sized. Jace (not quite 2) has much larger hands and feet than Flor. Really. Flor wears a size 5 toddler shoe. Jace wears a size 8-- just for comparison. :)
Sleep problems: The most common problem found is multiple wakings per night, which is dead on for Flor. She doesn't really have a problem falling asleep, but she is such a light sleeper. Any little noise used to wake her up, though she has done much better lately. She still wakes up easily, though. She is able to fall back asleep with no problems (as far as I know!).
What are the behavioral issues typically associated with 1P36 Deletion Syndrome?
From the report: "In general, children with 1P36 Deletion Syndrome are placid and affectionate (very true of Flor). However, they are as vulnerable to frustration as other children with a communication difficulty and temper tantrums and aggression can present caregivers with challenges (also very true with Flor)... The behavioral issues are wide-ranging. Some can be overly affectionate, including with strangers (um, YEP. Constantly working on this!) Sensory difficulties can be difficult for some children (YEP) This can be tactile defensiveness, where children are sensitive to touch or sensitivity to certain textures (Flor has some of both of these). Some children go through a long phase of chewing or biting their own hands, arms, and wrists, usually when in pain, tired, frustrated, or frightened, but on occasion for no obvious reason." (Weird that it even explains this! I thought it was odd the Flor bites her hands, but apparently it is common...).
The report goes on to say that head banging is less common, but Flor also does this, especially when going to sleep. It also says that these kids can have a high pain threshold-- which I have definitely noticed. Flor fell down the stairs once and it didn't even phase her. She just stood up and walked back upstairs...all the while my heart was racing and I was running down the stairs to help her. Nope, she was fine.
The report points out that the children do best with praise for positive behavior and ignoring negative behavior, which is something we can work on with Flor. We put her in time-out usually when we see negative behavior, and she does respond well to that also. They also talk about routine and the importance of it in helping regulate the behaviors. I also agree with this. Flor does much better when she is on a predictable routine.
And the question I know is on all of your minds....
What is her life expectancy?
Well, no direct answer was given me on this question, but the counselors did tell me that they had read recent studies of people with 1P36 Deletion Syndrome who were 18 and 23. That didn't sound too reassuring to me, I mean 18 and 23 are not old by any means. So, the answer to this question is, I don't know. I think we have to be realistic about the fact that Flor may not live to be all that old, but at the same time, we need to enjoy each day with her and not be looking over our shoulder, waiting for her death. Given that she has so few of the health problems, I think she can live a good life. I definitely don't want her dying at 18, but at the same time, I don't want her to be living like this to 80 either. I hope that doesn't make me sound callous, but I know that Heavenly Father knows best and we will trust His will for Flor's life. I know her mission on earth is to teach us and teach us she is. I still have a lot of learning to do. Devin and I knew going into Flor's adoption that she would likely be living with us long-term. She is not going to achieve a level of independence where she can be on her own, and we knew that, even without a name to her delays. That said, we are going to continue to get her as many treatments, therapies, and opportunities to learn as we can. We want her to progress to as far as she is capable.
So why is this important?
While her diagnosis does not really change anything right now- she isn't needing new medications, therapies, etc....she can continue with the routine we have going for her-- it does change things in mine and Devin's minds. It all has to do with expectations. And now, since we have a much better idea of what appropriate expectations are for Flor, we can respond better to her and her needs without the extra frustration that comes with unrealistic expectations.
Let me give you just one example of MANY to show what I am talking about. The potty training thing.
When we first showed up to Flor's orphanage to bring her into our family, we did not know if she was toilet trained or not. We quickly found out that she was not. However, all the staff at the orphanage made it a point to tell us how ready she was for toilet training. They encouraged us to get started immediately in potty-training her because now was the time. The psychologist gave us some tips on training her and suggested that we use dolls to show her how to use the toilet and then have her copy the behavior. Well, we took them seriously, because afterall, what did we know? We didn't know anything about this little girl and if the people who had been caring for her for years thought she was ready, well she must be ready.
Wrong. What we hoped would happen-a quick, easy, potty training (haha)- did not happen. What did happen? A LOT of frustration. If I could go back and do anything differently, I would have ignored the potty training issue completely at the beginning. It gave us an unfair disadvantage while we were trying to bond with Flor. We spent half the time frustrated with her because she was not getting the potty thing at all-- yet we had been told that she was ready! Here we are more than a year later, and while Flor has made great strides in toilet training (If we are consistent and put her on the toilet every 1-2 hours, she uses it appropriately, including bowel movements almost all of the time (sorry for the TMI), but what Flor is lacking is the ability to anticipate the need AND to tell us) she is still not potty trained. (not even close, adds Devin).
So, now that I have talked to the genetic counselors and read the research on her syndrome, I know that toilet training is rarely fully achieved with any of the people with 1P36 Deletion Syndrome. Huh. So really, she has been ahead of the curve this whole time (at least knowing how to use the bathroom correctly), and yet we have been frustrated with her because she still.isn't.potty.trained. Had our expectation been that she won't ever fully toilet train, our outlook on her successes certainly would have been different. So, you see what I mean about expectations?
Whew. I think that's quite enough info for now, right? All the information in report form talked about here comes from a group called Unique. The genetic counselors gave me a whole packet about Flor's syndrome, which has been really helpful because it is written in layman's terms but is really comprehensive. Awesome. Their website is http://www.rarechromo.org/html/home.asp if you want to check it out.
Also, feel free to ask any questions if you have them...we are pretty open books!
