The Real Update- The Follow-Up Visit

After our initial diagnosis over the phone in March, we set up an appointment for a few weeks later with a geneticist to get further insight into her new "syndrome." Dr. Sarah Dugan who we saw for the first appointment was on maternity leave, so we saw a Dr. John Carey instead.  

Our visit with Dr. John C. Carey was very nice.  He was such a pleasant man, and almost seemed like a grandfather figure with a calm, pleasant disposition.  Ben described him as having a cautiously optimistic outlook for Lucy.  He didn’t say anything that Lucy would or wouldn’t do in her life.  Many times he said that what we will find in the research on T12P is biased and just the extreme cases, not the more mild cases, potentially like Lucy.  Dr. Carey has been at the U of U in genetics since the late ‘70’s and has seen four cases of trisomy 12p.  Two of which are sisters, one is 20 and the other is 11 now.  One of the sisters is in a mainstream high school with resource classroom help and speaks fine.  The other sister has neuro sensory hearing loss and struggled a little more.  Another boy he met 20 years ago named Joey, he wrote a paper about in 1996.  The other case he met just once and they were from Logan, Utah four years ago. 

I asked Dr. Carey how does T12p compare to T21?  He said the middle of the face, flatness is similar but the similarities end there.  With t21 a much higher percentage maybe 50% might have other issues, such as heart problems as well.  This is not the case with T12p, the extra issues such as heart, brain, sleep vary greatly between the syndrome.  Dr. C. noticed that Lucy’s bottom lip protruded out and that her nasal bridge is flatter than the average.  He said he didn’t notice anything different about her eye spacing. 

His patient Joey came in at 6 months and Dr. C said he didn’t think they needed testing because his signs weren’t dramatic, so his parents didn’t.  He didn’t notice many outward signs with Joey.  Then he came back at 12 months and he had more delays and the family wanted to go forward with the genetic testing.  This was similar to Lucy, with the genetic testing not as obvious as some of the others.  With the earlier onset of diagnosis, the patients seem to be more “delayed”. 

Dr. C. said that because Lucy is close to age two and hasn’t had any other additional problems, it is a great sign that she might not have those issues of heart, brain, etc.  He explained the different types of seizures that could occur and just to be aware of them.  Because Lucy was doing so well she might have less brain problems and less likely to have seizures possibly. 

I pointed out her white birth mark and he was surprised by the position of it on her front scalp.  He has seen similar birth marks more often in PKS syndrome*** (stay tuned) (4 copies of 12p instead of 3) which is a symptom of that.  He also said that a white mark like Lucy’s is often present in a mosaic case of a certain chromosome problem.  He said he didn’t question Lineagen (the company doing the genetic test) before he walked in the room but now that he saw her birth mark it made him wonder about mosaicism for the first time.  He also said the sparse hair is common as well. 

Dr. C. said that it is common for the t12p kids to have fluid in the middle of their ears.  He also suggested the eye exam just to make sure there aren’t problems with near or far sightedness. 

I asked Dr. C. about the 500 extra genes that Lucy has from t12p and if they are all bad or just too much information to process in her body.  He said that even after studying genetics for 40 years he/researchers don’t know all the effects of all the genes.  They don’t know specifically how they affect her. Just like 50% of T21 have heart defects and some don’t, they don’t know why. 

Dr. C. explained that t12p has fewer birth defects than t21.  Often there are just a few facial markers and maybe just specific global delays.  Some people with t21 have a cognitive ability of half of their age, one example has an IQ of 80.  T12p could be similar to those findings.

Lineagen found that no terminal deletions of other chromosomes were identified with Lucy.  But it doesn’t rule out that Lucy has t12p at random, Ben or I could have a balanced translocation of 12p, meaning we could be carriers of trisomy 12p.

Ben wanted to know what percentage of people that have a balanced translocation, or are carriers, give it to their kids?  Aka if Lucy did inherit T12p from us, what are the chances that it could occur again.  He didn’t know a percentage, but with the karyotype additional testing of Lucy and us he could tell us then.  It depends on where the change in chromosomes is for us, to what extent of chance of happening again.  One lady in our Facebook group is a carrier of T12P.  She has one daughter with t12p and two other kids that are both just carriers of t12p.   

At the end of the 70 minute appointment Dr. C. picked up Lucy and said she had a good grip on him and she doesn’t seem floppy with hypotonia.  He also asked if I knew that it was a really good sign that she is pointing at things already at a young age.  He said that it is a sign that she doesn’t have autism and was very impressed with her friendliness and being such a good baby.  

Ben and I were curious about the possibility of being carriers of the T12P and were going to think about doing additional testing to see if it is indeed hereditary or if it happened by chance.  We had just a few things weighing on our mind this time. One of the greatest blessings was having Ben around more during the beginning stages of Lucy's doctor visits.  Ben didn't teach any classes in the winter semester and that helped a lot being able to both go to the doctor at any given time they had available.  This was a big blessing to us as well.