Genetics Appointment #2

Kate had her second genetics appointment at UCSF this morning. About a month ago, she had her blood drawn for another genetic test to see if they could determine the origin of the extra piece she has on chromosome #9. This appointment was to discuss the results.

They were able to determine that the extra piece was a duplication from chromosome #19 (#19 is intact). There also is a small piece of #9 missing (only ~3 genes) where the piece of #19 is connected. My understanding is that this extra piece is fairly large and has quite a few genes coded on it. The docs are not sure what these genes do specifically at this point.

They were able to find about 10 other patients with a very similar chromosomal issue in the medical literature. Many were cited to have had heart conditions (one even had Tetralogy of Fallot). Many were also cited as having a seizure disorder. Lastly, a few were cited as having some form of developmental delay. Her doctors were very careful to emphasize that each patient is different and can respond differently. That being said, they did not see any reason to do any further testing (genetic or otherwise), as the literature did not indicate any additional areas of concern (such that would indicate other organ systems that might be at risk). Kelly and I are hoping that they are right. A heart condition, seizure disorder, and highly possible developmental issues are quite enough, thank you.

While still too early to tell, (since she's been hospitalized, drugged, and had rather invasive surgery) Kate is definitely tracking behind the curve on her development. Her growth has been borderline and her muscle tone and motor skills are definitely delayed. She is now over 5 months old and still cannot hold her head up straight (although it is better than before). On a positive note, thankfully she takes after her mother with her social skills - she can smile like a champ and loves to 'talk'!

We have a developmental therapist from our 'regional center' coming this week for the first time. We are looking forward to working with experts in this field and learning about things we can do to help Kate overcome any hurdles she may have developmentally. Kelly and I both would sure like to see her meet some of the same milestones many of her peers are already meeting and exceeding.

On the seizure front, Kate is still pretty much the same. She is now on her max dose of Topamax, maintenance dose of phenobarb, and once daily dose of Tranxene. Unfortunately, we did not see the complete elimination of the seizures that we had expected while on these three drugs. The seizures are even less intense (actually hard to notice) and only last about 5-10 seconds, but they still are there. We are going to stay with these meds at this dose until the weekend. Unless a miracle happens, we will be transitioning her off of Topamax and onto another med next week. More later...

Thank you for your continued support, prayers and positive energy!