Pediatric geneticist visit

I got a call yesterday reminding me of a visit with the geneticist for Anna this morning. Ugh! I did NOT have that appointment on my calendar so I’m glad they called. I don’t know if you all remember but before Anna’s MRI and ultrasound last month, I tried and tried and tried to get into to see the geneticist before the procedure. I thought these new symptoms might give Dr. I another clue as to what is going on with my baby girl. We did get an appointment set up only to have the doctor cancel it due to illness so we did not get to see her prior to the MRI. I totally forgot that we had rescheduled it for today.

Anyway, we get there at 9:00 a.m., right on time. At 9:35, I poked my nose out of the exam room scanning for a nurse wanting an ETA from the doc. Waiting that long with Anna is a chore! Nothing from the nurse. At 9:45, I went out again and asked again a little nastier… everyone scurried about and said she’d be in within the next few minutes and that she was having computer problems. Grrr. I threatened that if she wasn’t in by 10, I would leave. I HATE that doctors make you wait that long. How hard would it have been to come in at 9:15 and say, “Dr. I is running late/having computer problems/blah blah blah, would you like to wait or reschedule?” Seriously!!!

So I was boiling when she appeared at 9:53. She apologized for the delay, then immediately scooted over to Anna and starting engaging in the nicest conversation with her. I felt my anger melting away as I saw a full page of handwritten notes on the doc’s notepad and saw how fully she gave Anna her attention. Within just a few minutes, I was back in find-a-diagnosis mode… it was nearly three years ago when we last saw Dr. I. She has really prepared for our appointment by reviewing Anna’s history and recent tests (granted, it was in the 50 minutes we were waiting, but I was still pleased).

It’s a very emotional process to look for a diagnosis. Years ago, it was a much stronger drive to find an answer and when test after test came back normal, I began giving up hope that we’d ever find an answer. Well, that door has been opened again. Wouldn’t it be something to get a real diagnosis at 9 years of age?

The doc mentioned that Anna’s MRI and ultrasound results from last month were normal but her blood work was highly abnormal. Then she proceeded to say that the endo would need to go over all of that with us. Ugh. You bet I was on the phone to the endo’s office as soon as I left there, but I didn’t hear back from them yet. I’m glad her MRI and ultrasound were normal though, that’s really good. I wish they would have called already.

Dr. I wants to look at Fragile X. I thought Anna was tested for this as a toddler, but she wants to do the full DNA sequencing for Fragile X. When I looked at the checklist of symptoms… well, my jaw hit the floor. Anna has nearly every one of these. Sigh.

We also talked a long time about connective tissue disease. Dr. I feels that Anna actually has two genetic syndromes, one connective tissue related and the other causing the seizures, PDD-NOS, anxiety, and cognitive challenges. My mom’s mom (now deceased), my mom, and myself have a genetic connective tissue disease. The last geneticist I saw said that I have five of the six markers for Ehler-Danlos Syndrome. Anna is much more affected than I am. The doc noticed that Anna’s joint laxity has gotten much worse over the last three years and that she has developed kyphosis (like a hunch in the upper shoulders). So she is referring us to an orthopedic doc. She also wants us to see a cardiologist to look for connective tissue issues in her heart (I have a mitral valve prolapse, so we need to see if Anna does too). During the physical exam, Dr. I is really exclaiming over Anna’s flexible elbows, hands, wrists, and fingers and Anna says, “Is that good?” to which Dr. I replies, “No honey, it’s really not.” It was very sweetly said, but humbling too.

The 2-hour visit exhausted me and Anna… I’m anxious about the blood test results so as soon as I get them, I’ll let everyone know. Dr. I was pretty sure the endo would be ordering more blood work soon, so we’ll be getting the Fragile X DNA test and fibrillin (connective tissue) DNA test added onto that blood draw. Anna has such a hard journey… there are moments that really hit me and today was one of them.

On a happy note, I got to take Anna out to lunch at her favorite restaurant before returning to school. How cute is this girl, huh?

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  • Carol Askew - Wow – what a day. I'm sorry about the abnormal blood test results. Update us on that as soon as you hear. I'm struck again with the thought that if Anna has two different syndromes, then Megan does too. Megan also has the connective tissue problems, in addition to the pdd, cognitive delays, seizures. Fragile X was mentioned for Megan as very possible, but then she was tested for it and that was negative. Now I'm wondering what other testing we need to do.

    And I hate when they make you wait! It is SO hard. I don't know why they don't schedule the chart review time for the 45 minutes prior to the appt time. Our geneticist does the same thing – reviews when we get there, and comes in 45 minutes later. Maybe so many people cancel?

  • Heather - Aww Holly she is so adorable! As much as we look for diagnosis's I know it's also so scary. I've thought of taking Avery to the developmental pediatrician again, but I'm to scared they'll diagnose something else. *sigh*

  • Pamela - Holly,

    I don't often post on here, but I follow Anna's journey regularly. You have so much strength through all of this, as does that wonderful girl. I pray all the time that they find an answer for her and for you.


  • Lisa - Holly, I really have admired your strength and perseverence through this journey. I am sure it has made a huge difference in Anna's life. I am sorry to hear about the blood results… but very happy her MRI and ultrasound came back good. We are praying for the both of you!ReplyCancel

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