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| Walking to the park, the bus and truck had to drive the whole way. And we had to stop to splash in the puddles. |
Tuesday morning Allen was working from home because he was leaving to go recruiting in the afternoon. In the morning I took Leila to a pediatric dentist appointment to confirm if she had a tongue tie and fix it. The dentist said she did have a posterior tongue tie and an upper lip tie and was surprised that of all of the nurses, lactation consultants, doctors and therapists we've seen that no one had caught them. She couldn't fix it until Leila took a dose of an antibiotic because of her heart. So, we have to go back tomorrow. We went home for a few minutes and then I took her to OT.
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| He loves to play in all of the puddles and sand/mud on our street. |
Thursday we had to go downtown for Leila's geneticist appointment. More info below.
Friday ?
Saturday we must have had a cold front come through but we still went to the park in between sessions of General Conference.
Sunday the boys got haircuts and we watched General Conference.
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| Caleb gets to take a shower with Daddy after I give them haircuts. |
It has been a week of answers. It has taken three hospital stays and an average of three dr visits a week for the past six months. Now we know Leila had a posterior tongue and front lip tie. And we know she has 22q11.2 deletion syndrome. And that diagnosis answers almost every other medical issue she has had.
Before having kids I wondered what it was like to be a parent and be told your child has a major disability. I wondered if they were crushed or if they dreaded the many years ahead. Over the past couple of years I have seen friends lose babies due to medical problems and my heart broke for them as I heard about their stories. Then while Leila was in the hospital in May, we were told of some disorders the geneticists suspected she had. One of which was SMA that my friend Dujuan's baby died of this year.
One night I awoke from a dream of having to explain to Caleb that Leila had died. As I lay awake, I thought what a blessing it would be to have a child who "only" has cystic fibrosis (one of the other potential disorders being tested for). As challenging, mentally, emotionally and physically, as it must be to raise a child with disabilities... What a blessing to get to raise your child for even a few more years.
As a Mormon, I do believe that our family will be together eternally, so even if Leila were to only be on the earth a few years, I know she would be waiting in a better place for us to join her. That doesn't mean I wouldn't mourn her passing or miss her here on earth... I know I would.
So, back to today... When the geneticist told us Leila has 22Q11.2 deletion syndrome (DiGeorge Syndrome), in many ways it was a relief. We have answers to why she is having difficulties in so many different areas. It brought peace about six frustrating months with no answers or supposed answers that kept being disproven.
Getting this answer is in no way the end of our many doctor, hospital and specialist visits. Getting this answer doesn't take away her heart problems or failure to thrive or developmental delays. Getting this answer doesn't end my worries that my daughter may be teased in school. Getting this answer doesn't end the wondering when she'll reach certain milestones or end the pangs of jealousy watching kids her age surpassing her in many ways.
Getting this answer does give a name to a condition my daughter has but does not define who she is. She is the happiest, most patient baby I have seen. Her smile lights up her eyes and brings a smile to everyone who sees her. She has a belly laugh that shakes her body when she is tickled or when Caleb jumps up and down and I can't help but laugh. She extends her legs and flexes all her little muscles when she's excited and it is as though her body just can't contain her energy.
She coos at me in the middle of the night, looking into my eyes, trying to get me to laugh and play with her... And waits for my reaction.
There are many expressions of the DiGeorge syndrome genotype and we won't know what to expect each step of the way until she shows us what she is capable of. Our job is to love Leila and help her reach her potential, just as that is our job with Caleb.
For all we know, she may surprise in every way as she develops more normally than expected and be at the better end of the developmental spectrum.
The unknown hasn't ended but understanding has begun.
When you think about having kids, there are certain things you take for granted... at least I did. I thought my mom's experiences were normal. She had six kids, we ate, she ate, we grew, we went to doctors for thing like broken bones and stitches. I've learned my experiences are not my mom's or Allen's mom's experiences or any of my friends' experiences. We each have our own unique experiences.
I had Caleb, he ate, I ate (not dairy), he grew, we rarely had to go to the doctor's office. In fact, I thought the well-checks were over-the-top and it was an unnecessary hassle to go to the doctors so often!
I had Leila, she ate (sometimes... sometimes refused for days... sometimes violently vomiting everything afterwards), I ate (not dairy and soy, which are in everything... I never thought I'd be one of those people who makes her own bread, tortillas, refried beans or granola bars), she grew (very, very slowly... to being under the first percentile), and in six months she has been hospitalized three times and we have been to the doctor/specialists/hospital an average of three times a week.
Today at the geneticist's office we got an answer to why. Each of her problems are symptoms of a genetic disorder she has been diagnosed with: 22q11.2 deletion syndrome. It was previously known as DiGeorge Syndrome/VCFS and a bunch of other strange names but is now called 22q, based on the chromosome that is missing. It is a disorder that affects almost every body system:
Cardiovascular - she has a VSD
Feeding difficulties - nasal regurgitation, GERD, high palate, tongue tie and upper lip tie
Gastrointestinal problems - dairy and soy intolerance but I'm hopeful she'll outgrow it since it isn't an allergy
Immune system problems - (she hasn't really exhibited symptoms of this other than frequent colds, thankfully)
Growth problems (endocrine system) - she is actually doing pretty well for a 22q baby, she's around the 25th percentile for 22q baby girls!
Delayed development - we'll see if she ends up with speech delays, but she is only slightly behind in motor skills so far.
Also, potential kidney and hearing problems and increased cavities.
This diagnosis sums things up nicely and helps me know that I'm not just messing everything up! There is a medical reason behind her problems. Her symptoms are really on the more mild side of everything, which is great and the prognosis seems pretty good. We'll have to see a lot of specialists for a long time (cardiologist, ENT, GI, geneticist, immunologist, OT, PT, speech therapist, and opthamologist), but early intervention has proven to have the best long-term results and she has been diagnosed early.
It has been a lot to take in and at first I was relieved to have an answer to our previous problems. Now I've begun to realize that answer brings with it a lot more unknowns and questions. There is a very wide spectrum of how this disorder affects kids and we just have to wait and see how she is affected by different parts of it. I've read some stories of kids with 22q and some are able to do well in school without assistance, others require special ed. Some don't speak at all until they are 3-4 years old, some at 18 months.
With 90% of kids with 22q, it is a random non-inherited genetic change. The other 10% is passed from parents, so they had Allen and I tested today. I'm not sure when we'll get the results back.
Caleb and Leila have both been so happy and patient with all of the doctors' visits I drag them to. I'm amazed at how well they're holding up! Thank you for all of your prayers, we have really appreciated it.
Excerpt of letter to Lizzi:
I'm typing to you on your iPhone as we speak (no more dumb phone for me)... Figuratively speaking of course. :) I think about you and pray for you all the time.
There have been several times I have thought, I should share this experience/scripture or whatever with Lizzi and by the time the kids are asleep, I'm exhausted.
I'm total granola :) I do shave my armpits though... Today my lasagna took me two hours to make! Who has time for stuff like that unless it's out of necessity?! At least we bought a bread maker so all I have to do is throw the ingredients in and press go.
All joking aside, I truly do know Heavenly Father gives us the experiences we will benefit and grow the most from. Apparently I was too complacent and not pushing myself to my potential so Heavenly Father stepped in to begin teaching me patience, long-suffering, compassion and humility. I will continue developing those attributes as long as it takes.
One thing that is for certain, is the Lord's hand in all of this. We have had so many tender mercies along the way, some that actually seemed like challenges and unnecessary trials at the time. In hindsight, His hand is so apparent! It would be a shame to be one of those people on earth who focuses on the negative to the point of overlooking daily miracles and losing faith, only to look back on your life in heaven and realize how truly blessed you were the whole time.
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