Not a Quarterback, but a Tight End

I took Maddie to a new doctor today. We saw a pediatric rheumatologist/sports medicine doctor at Cook Children's. This is our third rheumatologist to see and as difficult as it is to change doctors, I have learned over the years that having a good fit is vital to good care.  Our other rheumatologists weren't bad, they just didn't seem interested. And given that we were driving a couple of hours to get to the previous doctor and the new doctor was half the distance, I was ready to change!

And I'm so glad we did!

First off.. Cook Children's Specialty Clinic is new and a fabulous building complete with complimentary valet parking!! LOVE! 

Second, we waited in the lobby maybe five minutes. If that. And as soon as the nurse was finished with us, Dr. G was in the room. WOW!

Dr. G was great! We have met a lot of specialists in the last 14 years and many of them are too important or busy to look over the chart before they walk in the room. Not Dr. G! He came in knowledgeable and gave us a summary of Maddie's health report and asked if he got it right! No notes, or anything. That makes him credible from the start in my book!

Anyway, Dr. G asked lots of questions and did his evaluation of Maddie and then just talked to us a little while.  He said he wished he had a crystal ball and could tell us what Maddie's health would be in the future, but since he didn't he would just be a part of her care team.

I told him that was great. That Doug had told the last rheumatologist that we needed a quarterback, but she wasn't interested in the position. Dr. G said he didn't want to be the quarterback as the quarterback was the one that called the plays and made the decisions. He felt like we/Maddie should have that role, but he would be the tight end. 

It's interesting. We ended today learning nothing new, but feeling so much better. Dr. G really listened to us and made us feel like he considers Maddie's health important. I am thankful that we have him on our team!

A Genetics Conundrum

Life in my house is a roller coaster. We truly live in survival mode most of the time.

This is one of those seasons. I won't bore you with the details. However, in the last two weeks we have seen 4 different specialists. One for each child, plus an extra for Maddie.

Last week, Lexi saw a Metabolic Geneticist and we had some interesting discussions. We don't have results from any of the tests yet. One of the interesting things done was a full family tree complete with circles and squares and lots and lots of questions asked and answered.

Today while talking with a different doctor, a disease/syndrome was discussed and the doctor mentioned that it's an inherited disease from some gene mutation. While the discussion progressed, he stated that well, we would know such and such because my sons, brothers or uncles would have it.

I don't have sons.
I don't have brothers.
I don't have uncles.

Hmmm.

How's that for a conundrum?

See, I have three girls.
I am one of four girls.
My mom is one of four girls.

So, we don't know if we have the gene mutation.

Only time will tell. Thankfully, if we do have it, the syndrome is much less severe in females than males.

And that leads me to wonder, is this why my family line is that of girls? And I can't help but think about the lost pregnancies. Was Maddie's twin a boy? I know, it doesn't matter, but I can't help it. A few years ago a doctor mentioned in passing something about genes and girls and inherited issues and boys and some other mumbo jumbo. Now this. And so, this mother's heart begins to wonder.

And there you have it.

An update on our genetics conundrum.

The Merry-Go-Round

Defeated.


That’s how I feel today.

I had really high hopes for Maddie’s Rheumatology appointment yesterday.

The doctor came in and asked about the big picture as to what Maddie’s basic problem was. I handed her a copy of the spreadsheet.

The spreadsheet consists of doctor visits, blood work, x-rays and surgeries. There are 185 entries.

Let me say that again

ONE HUNDRED EIGHTY FIVE.

185 SEPARATE ENTRIES.

That’s not a typo.

And this doesn’t include well-child visits! Nor is it every visit to a specialist.

Maddie is 10 years old. Do the math. This is not a “normal” child.



So we talk to the doctor and she starts brushing us off.

The merry-go-round music might as well as have started playing.

Maddie doesn’t fit a simple clinical diagnosis for her symptoms and her age.

I am used to this merry-go-round.

But it doesn’t make it any easier to take.



Thankfully, Doug was with us and started asking more questions and pushed the doctor a little. She initially wanted to send us on our way, but Doug was able to convince her that maybe she could wait for the results from blood work before she said Maddie was fine.

I can’t explain to someone who has not walked this road how difficult it is to hear doctors brush us off year after year. I would give anything for Maddie to feel good. To be well. But she is not. A “normal” child does not wake up in the morning after nine hours of quality sleep exhausted. EVERY SINGLE DAY. A well child doesn’t live in pain EVERY SINGLE DAY! It is hard to sit and listen to doctor’s explain away documented problems as if explaining it away will make it go away.

So here we are. Again.

We have some really good specialists that have improved Maddie’s quality of life significantly. The problem is that they are focused on their specific area. Yes, that’s what they are supposed to do. But in the mean time, we don’t have a specialist that looks at the whole picture. We thought we might get that with Rheumatology. I guess not. Doug explained to the Rheumatologist that we are tired of being pushed from one specialty to another. That we need a quarterback. We need a doctor to take ownership and to look beyond the textbook. In fact, half jokingly, Doug told the doctor to take good notes, that she might write Maddie’s case story one day.

So, where do we go from here? I don’t know. First, we wait for two weeks for blood work to get back. It’s hard. We want it to be good, but we also need something to show up so that maybe we can get a diagnosis of something.

Four years ago we were told it could take 10 years for a diagnosis. I guess we will learn to be patient. In the mean time.. if any of you out there know a student or doctor that loves research and interesting cases… let me know and I’ll send you Maddie’s case. I have done all the research I can with what I have. I’m in the market for some good (free) medical books!

And now I’m off to update Maddie’s spreadsheet with yesterday’s appointment details.