It's all in the genes...or is it?

Yesterday we went to the most anticipated genetic testing appointment without having anything really to prepare us for what to expect. I had unrealistic expectations there would be blood drawn and they would send us on our way as we waited weeks, and possibly months, to learn the results. A more detailed analysis of her chromosomes was what I assumed they were wanting to studying. We checked in and they informed us we would be there a while, so make ourselves comfortable. The litany of weight, measurements and past medical history was conducted before leading us into another room to wait for the geneticist. Dr. Adolfo Garnica entered the room and began asking his own set of questions for a platform on which to begin Harper's monitoring. He then took Harper for a physical examination, to which he proposed a clean bill of health. He was amazed by her strength and great muscle tone, not to mention what a vocal and expressive child she is. Is that due to Harper being on the higher functioning end of the DS spectrum or the wonderful therapy she has been receiving since 4 months of age? Probably a pinch of the this and smidgen of that, along with a dash of love from her family! It is a total package.

I also was able to address any possible neurological issues, brought up from the most recent Easter Seals Evaluation. As soon as I began discussing the implication of neurological trauma at birth, present in the slight angulation of the right side of her head and favoring of her right side, the notion was immediately dismissed. I further mentioned that as a mother, I hadn't seen anything which would lead me to believe there had been. She was developing, growing and hitting milestones not to mention the absence of seizures. It was a relief to have that confirmation and another indication that mommies do know their children best :)

The doctor left the room and a genetic counselor, Carla Bell, MS, CGC, entered. She began by stating her surprise to find Harper off the DS growth charts. Yes, Harper, who was in the 90% for her height and weight at 4 months, is now off the charts. This simply means Harper is larger than a typical DS child but is quite average when compared to Hayden and Hadley at this very same age. She already had all of the information she needed from Harper's rapid chromosomal screening done at birth and no further testing would be needed at this time. I asked the question I most sought an answer for, which was the possibility of Harper being mosaic. To back track a bit, Harper's discharge papers, from the NICU at Baptist, noted her diagnosis as 46 XX + T21. Being that DS would have been coded as 47 XX + T21(25), coupled with her non present health concerns, that began my research into mosaicism. Very interestingly, the counselor explained how Harper's blood is simply one indication of her genetic make up. In that, the chromosomal analysis found, of the 25 chromosomes they studied, to be conclusive she is A-typical DS. However, that gives no indication of what her organs, such as the brain, or other body makeup is categorized as. So, could she be mosaic, sure, but it isn't anything we will ever know. Once again, knowing she has DS is all the information we truly need as Harper is her own individual self and will grow and develop in her own way, just as Hayden and Hadley are. We will see strengths and weaknesses no different with Harper and will address them in the same way we would any other child. So, I believe it is safe to say, a diagnosis such as DS, is such an open ended one. I must also address the original diagnosis of 46 XX + T 21 is thought to be a mistype from the hospital. Oops! Had it been mosaic, the code would have read 47 XX + T21 (25) + mosaic (#/% of chromosomes effected). It is still very interesting to me and the more I can learn, the better equipped I will be to lend my 'expertise' to the next family.

Carla also mentioned how the state of AR is unique in that it is one of only three states in the US which currently provides monitoring for individuals with DS into adult hood. Formerly, adults with DS were either institutionalized or not living into adult hood due to the varied medical conditions typically associated with DS. Clearly, there is much work to be done in the advocacy of DS! Harper will be followed annually by Suzanne Huetter, APN, in addition to her general pediatrician. This allows for the most up to date and conclusive medical coverage for children with DS. For example, children with DS frequently have instability in their C1 and C2 vertebrae. Suzanne Huetter is aware of this and will be testing Harper between the ages of 3-4 years. If instability is found, activities such as horse back riding and diving, would be off limits to Harper. We certainly hope that is not the case as we have already begun researching hippotherapy and the many advantages that come with this type of therapy. As defined by the American Hippotherapy Association, it is the movement of the horse as a treatment strategy for promoting physical, occupational and speech therapy in children with disabilities.

Another aspect of DS Suzanne will be monitoring is Harper's thyroid. A thyroid screen was preformed at birth, where everything resulted in a normal functioning thyroid. This will be rechecked at 6 months and 1 yr, followed by an annual checking there after. The nurses attempted to draw blood for this yesterday but were unsuccessful. The first attempt was in Harper's right arm, where she remained as calm and cool as a cucumber. The second, in her left arm and third, in her right leg weren't so smooth. They even sent for an additional nurse to give it a try but only left us with the option of going in her scalp. Jacob, the passive and quiet one, immediately stood up and said NO, that was enough sticking his baby for one day! It is almost more than you can take, hearing the cries of your child, even knowing it is for their own good. An order will be written for the blood to be drawn from her pediatrician's office at her 6 month check up, at the end of this month.

We were very pleased with the visit, even if it hadn't gone quite as I had anticipated. I suppose the number one thing to keep in mind, when having a child with DS, is knowing her genetic makeup is no different than knowing her blood type in some ways. It provides minimal information and what we truly need to know about Harper, we learn every single day from her. There isn't one book, test or study that can map out Harper's future no more than it could yours or mine. We take each day in stride and always strive for a better tomorrow.

Harper will also increase her PT to twice a week and incorporate DT once a week as well. I learned the importance of consistency of therapy over the past two week holiday we had. As much as Harper has progressed, the potential for regression can set in all too quickly the more time is allowed between her visits. Repetition and consistency are two key components to success. It will add a few more layers to our already busy week, but I wouldn't have it any other way! Thank you to everyone for your continued prayers and support. I fully believe it is also contributing to Harper's success. We love you all :)