Genetics 101

The testing for Turner Syndrome came back negative. Our endocrinologist emailed right away with the results, and said we should immediately head for genetics. Forty eight hours later we were sitting at our Children's Hospital satellite site awaiting the genetics appointment with the physician who is clinical director of the center. For anyone who has had their child assessed by a geneticist, this will be nothing new. We, however, had never seen a geneticist. I had no idea what to expect. I figured that she would take a look at Mia, like endocrine had, and then order some bloodwork. Wrong. Our first hour was spent with a genetic counselor, who meticulously went over every single detail that I could possibly provide about Mia's time in the orphanage, time at home, time at school. She carefully reviewed and made copies of Mia's school evaluations, where it says that her learning issues are all due to ONLY having 2 years of english, and that Mia needs no supports in school. She knew we were seen by endocrinology the week before. She knew the Turner Syndrome was negative. She said the words "Russell Silver Syndrome". My head started to spin. Despite knowing that the endocrinologist had said "syndrome" I really thought that somehow I must be dreaming. Surely he was mistaken. It now seems that it is not "if" she has a syndrome, it is "what" syndrome. It was explained that we were heading into the realm of "rarer" syndromes. Turner was the first suggested, because it is the most common. One out of every 2000 births. What we are looking at now, are much rarer.

After the first hour with the genetic counselor, the MD/geneticist came in for another hour. This is the part where the patient is looked at as if under a microscope. Meticulously. Every.Single.Inch. "Clinodactyly" both hands. Several "Cafe au lait" spots. "Single palmar crease", left hand. "Micrognathia". "Frontal bossing". Words like "Microarray, Methylation, Epimutations" and I was lost. Testing will be done, with results to come back in 6-8 weeks if we are lucky. Another family waited over 3 months for their results. I explained we have a meeting with the special education administrator in January about their decision to provide no support services for Mia, and was hoping to tell them something about what is currently under investigation. I was told that there *could* be some potential initial abnormalities identified by that meeting, so call before the meeting. I was then asked if I was providing her with private therapies, since the school isn't providing anything. Guilt overtook me. No. I have not been getting private services for her. I thought to myself I will need to figure a way to fit it into our week. I cannot live in denial any longer.

I am trying not to overthink Russell Silver Syndrome (RSS), especially after the Turner Syndrome was negative. However, there are some very interesting features of RSS which seem to fit perfectly, all of which Mia has. The hallmarks are cafe au lait spots, clinodactyly, micrognathia, a triangular shaped head (broad forehead moving to a small chin), a wide mouth which has corners that turn downward, and asymmetry. Of course the kids with RSS have growth failure. Check. Have that too. Kids with RSS have never been on the growth chart for height and weight. Check. She has never even been at the 1st%. The other huge issue (over 60%) is SLOW EATING. Check. Have that too. To think there could actually be an explanation other than behavioral. Anyone who knows Mia, knows how painfully slow she eats. As in, up to 3 hours at school to eat a small bag of pretzels....not a bag purchased in the store, but literally a "snack" bag filled about 1/2 way with pretzels. Pretzels that she requested because she likes them. Mealtime is draining. She is always the last to finish. Kids with RSS have poor appetite. Again, check. Mia has never once initiated asking for a snack. Ever. Now, if she sees her sisters eat something, and she *really* likes it, she will ask for it. But never, has she ever, just asked for something because she thought of being hungry. Kids with RSS often have motor and language delays. Check. Mia did not walk until well over 2.5 years of age. Her speech still is not clear at times. Kids with RSS are said to have processing difficulties and math difficulties when in school. Check plus. Despite Mia's teacher reporting that she is doing perfect in the classroom, homework and life shows definite difficulties understanding things and completing math homework. Kids with RSS have horrible teeth, related to poor enamel and tiny baby teeth. Permanent teeth are misaligned and erupt in a different order. Check. Mia came home with cavities in every single tooth in her mouth. Her teeth were so small. Now that her permanent teeth are coming in, they are coming in front of others. She lost all 4 bottom teeth prior to losing one top tooth. Definitely following a different order.

The journey to diagnosis continues. Our hematologist was relieved that Mia's growth failure is not a direct endocrine issue, as it could have been a consequence of her iron overload which happens as a result of each transfusion. Meaning, her iron overload has not damaged any of her endocrine organs. This is a relief. However, he also said that when the Turner karyotype came back negative, he thought RSS. I am grateful for his honesty, and for keeping me in the loop of what he is thinking. If Russell Silver Syndrome is positive, she will be the only child worldwide with the dual diagnosis. And if it's not RSS, it is likely some other rare syndrome. The enormity of that weighs heavily sometime. But I know that I have been prepared and equipped for this journey, and trust that through Him, I will be able to advocate and provide for her to meet her best potential.