This has proven to be a bit of a rough week starting out for Miss Isla. She has such a laid back personality and nature that you know if she's not sleeping, eating, or acting like her happy little self, she's not feeling well. Over the weekend I noticed that she was a little fussier than usual at bedtime and by Sunday evening I saw her tugging on her ears and knew (even though she had no fever) that we'd be making a trip to the doctor on Monday. Sure enough, one of her little ears was infected and the other had plenty of fluid, the doctor said. She had tubes put in when she was 7 months old and unfortunately they've fallen out. I suspect that with the changes in weather we've had and the little cold she contracted over the weekend, her little ears just couldn't handle the fluid. So we got an antibiotic and by bedtime this evening she already seemed to be doing better.
Unfortunately the ear infection wasn't her only hurdle today. We'd had a endocrinology appointment scheduled for weeks for today. Her pediatrician referred her to a pediatric endocrinologist and pediatric geneticist in order to investigate a few things. She has a few little things that are just off enough to cause concern like the placement of her nipples and wide nasal bridge. In addition there are a few other small things she's had issue with like weight gain and kidney dilation (enlargement) since birth.
Anyway, the endocrinologist ordered blood work...2 vials of blood. Let me just say that as a mother (one that despises needles as much as she does onions), it's not easy holding down a 20 month old child while you extract 2 vials of blood. In fact, it's heart-wrenching. She was so confused as to why Mommy was holding her down and allowing some unknown stranger to inflict pain on her. Poor little boo was a real trooper though. She got a little purple bandage to match her outfit and the sympathy and attention of the entire waiting room whom she'd won over prior to the blood draw. She bats those eye lashes and not many people turn her down. lol
More on the appointment...The endocrinologist has a suspicion that Isla's poor weight gain could be related to one of the following problems; 1- Thyroid Issue; This runs in Christian's family on his dad's side and can cause low/poor growth or weight gain in children. Though it's uncommon to show up in children Isla's age, it's not impossible. 2- She's just small stature and will even out. 3- She has Turner's Syndrome.
From Wikipedia...
Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis"[1]:550) encompasses several conditions, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Typical females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism[2]or 'Turner mosaicism'.
Occurring in 1 in 2000[3] – 1 in 5000 phenotypic females,[4] the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such asshort stature, swelling, broad chest, low hairline, low-set ears, and webbed necks.[5] Girls with Turner syndrome typically experience gonadal dysfunction (non-workingovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Concurrent health concerns are also frequently present, including congenital heart disease, hypothyroidism (reduced hormone secretion by the thyroid), diabetes, vision problems, hearing concerns, and many autoimmune diseases.[6] Finally, a specific pattern of cognitive deficits is often observed, with particular difficulties in visuospatial, mathematical, and memory areas.[7]
The signs that may point to Turner's in Isla are;
1- Shortened metacarpal (bones in her ring and pinky finger on left hand)
2- characteristic facial features (wide nasal bridge)
3- widely spaced nipples
4- low set ears
5- Ear infections and hearing loss (Isla does have very very minimal hearing loss)
6- Kidney problems - Isla has always had the dilated (enlarged) kidneys, but they've been long known to function appropriately...
There are other signs and symptoms like heart problems and missing or non-functional ovaries, which we don't know if Isla has and a few others that I'm not thinking of that Isla doesn't have like the sometimes webbed neck. There have never been any concerns about her heart, but of course if she's diagnosed with Turner's she'll have to have a cardiology consultation. I did find out that thyroid problems can be a sign/symptom of Turner's Syndrome, so I'm sure that the Endocrinologist is covering all bases there.
I'm breathing deeply. Nothing on this list is fatal with the exception of some sort of weird heart complication, however the doctor and her pediatrician seemed to think that any sort of serious heart problem is near impossible. Since she's very healthy otherwise and her heart sounds good, etc., this just isn't likely at all. With that thought, I'm feeling grateful. I'm thinking this isn't something we have to "beat", just something we have to manage. Nothing that could threaten her life, just things that could be health annoyances, if you will. Right? Right.
Lots of information to take in. Sensory overload. Had I known the appointment was going to be so serious, I would have definitely taken Christian with me! The difficulty in it all is that during this already tumultuous time in our lives, we have this extra little tornado. Unfortunately, it's a long-standing one. The doctor ordered 1 vial of blood for the thyroid test, which we'll hear back about in 1 month. She ordered the other vial of blood for a karyotype or a chromosomal analysis which we won't hear about for 2-3 months. That's a long time to hurry up and wait. So, I'm telling myself that I am doing everything in my Mommy-Power (they're special, didn't you know?) to provide for her, advocate for her, protect her for now. Now, I'm waiting for knowledge. And knowledge is certainly power. So for now, I'm willing myself not to worry. No sense in that!
You see, no matter what those tests say or what those doctors say, I'm still her Mama and I still love her. She's still beautiful and perfect in every single way. There's nothing that these tests or doctors can do, say, or analyze to change that. She's been beautifully and wonderfully made...with love!
So, worry - fly away! I'm not dealing with you today.
Worry, leave me be! I'm busy, can't you see?
Worry, you're not worth my time! For I know He has a plan, all mine.
Worry, you're no match for me! His love washes over me.
No, I won't worry today. I'll just bow my head to pray.
Lord let this worry leave my side. You are my true guide.
I'll not waste a minute on you. My Lord will see me through.
For instead of worry, I'll just pray. Lord, may I use today to instead of worry, laugh and play.
No comments:
Post a Comment