This week I’ve been sharing different aspects of invisible illness as it regards to our family and those who have a diagnosis that is real, but perhaps not visible. My hope is we all take a look at how we approach situations like this and find ways to improve.
Today I want to share the best source I’ve found so far to describe one of the issues our daughter has. Although she was diagnosed with Albrights Hereditary Osteodystrophy a couple years ago, we weren’t told much. We knew we had to watch her calcium, Vitamin D and phosphorous levels to avoid seizures and help her joints.
It was a couple months ago I was floored, and honestly, devastated at times, when we learned more about AHO and how it affected our daughter. Talk about invisible—in a matter of months her bones fused so fast that I was given the news that at 12 years old and 4’8″, she was done growing. Talk of hormone injections were tabled because it wouldn’t help her grow. If we used them to stimulate menstruation as her bones measure her at 17 years, it would make her bones fuse faster. We have been told when this process starts naturally, her bones will continue to fuse.
It’s typical for me to run and research. I want to be armed and informed the best I can to advocate for her. I’ve learned that AHO is a rare disease, that less than 200,000 people in the US have it.
One thing I found was a video from a 2010 piece on 20/20 called, “What’s Wrong with Carter?” I found it very informative and was able to touch base with Carter’s mom and share notes. There is a lot there is similar, although I believe Carter has a chance at height that we might not have.
It’s obvious there is so much for the doctors to discover here. We’re learning as we go. And trusting God along the way.
If you’d like to watch the 20/20 piece, click here.
In years past, I shared stories about my own journey with severe PCOS, infertility and hormonal imbalance. Those were tough days and I’m thankful most of that fight is over. (I had a total hysterectomy in 2008 that relieved 95% of my pain and hormonal issues.)
This week my sharing is for our daughter. I blogged about my quest on her behalf for answers, and the fight against ignorance. Today, I share some specific issues she faces on a daily or near daily basis that most people don’t see.
She is twelve now and her chart reads congenital hypothyroidism, Hashimotos and Albrights Hereditary Osteodystrophy. I believe the first two weave together from the Albrights, that diagnosis is so rare it is hard to find information on it.
What people see is a short-statured tween who is overweight with a round face and short fingers/joints compared to her peers. The diagnosis and the reality for us is there is a learning challenge for her. What comes easily for her friends, she has to work for.
And what makes it even harder is there are times she is absolutely exhausted.
I don’t mean I stayed up too late and I need a nap.
I mean she sleeps at least eight to ten hours a night and then will fall asleep on the commute home from school and take a two hour nap. And still go to bed at the same time.
For the doctors that ask for anywhere between 20 and 60 minutes of exercise every day from her, the school year is near impossible to get that from her. Last week she asked to take a walk after dark. This was so rare and I’d already taken a little walk and a bike ride, I threw on my sneakers and off we went. Tonight? She has a test tomorrow. She barely made it through dinner. She’s sleeping hard as I type. When I’m done here I have to wake her and urge her to give her all when I know she’s wiped out.
It’s hard to discern what she can handle and what’s too much, so we adopted the attitude that we’re always going to do our best. I know if the gym teacher told her to forget about wellness, have a seat, she’d do it. But we expect her to try even if she is the slowest kid on the team.
To keep her moving forward, it takes energy for me. Most of the time I’m up for it, but there are times I’m tired or have other projects calling for me as well. That’s why I have my coffee most mornings. I refuse to let her coast through life because she has a chart filled with medical jargon. At the same time, I’m ready to advocate toward anyone thinking she is milking her exhaustion. Trust me.
One thing I hear from people with Hashimotos or other thyroid issues is that when they tell people they are tired, the compassion isn’t there. Usually resentment is what they are met with. Hopefully these posts this week are raising invisible illness awareness for us all.
It’s a weird place to be in. My fight isn’t my own, it’s for our daughter. And part of why I fight is so that she can blend in and enjoy many things that come naturally for her peers. My fight is invisible to her for the most part, but I thought it was time to make our journey visible to you.
I fight for answers.
When our daughter received an abnormal newborn screening and we were told to re test in case of a false positive, I went that same day. And I waited for answers for three weeks. I called the office to learn the receptionist had the results all along and never called. She gave the results, not knowing how to read them. She told us it was a false positive. She read the wrong category, she gave the adult levels, not newborn. She also didn’t bother to send a prescription from her inbox to the pharmacy that would have given our child thyroid medication. Because of this, we were told to prepare for mental retardation. She missed eight weeks of needed medication. I fought for answers and change.
Through the years I’ve fought for doctor appointments for thyroid issues and asthma. I fought an ER when we sat 12 hours watching nurses and aides flirt with each other while our baby was struggling to breathe and throwing up. My letter to the president of the hospital was used until the hospital closed to train nurses on proper patient treatment as I had a blow by blow description of all we faced as a family—everything but treatment.
- I’ve fought for therapies and services.
- For an IEP to be implemented.
- For insurance to cover appointments, prescriptions, lab work, and therapies.
- For teachers who didn’t think special need kids should get special services because the other kids weren’t signaled out, why should they?
I’ve fought for lab work and new information. I’ve fought for updates.
And here we are. She’s now 12. The asthma is almost a memory. Her congenital hypoythroidism is the tip of the iceberg, we’re learning. A couple years ago we learned she has Albrights Hereditary Osteodystrophy. This year it was confirmed she has Hashimotos. She is in a regular classroom with an IEP. She participated in our church’s Fun Arts competition where she sang, danced, entered a photo. She was part of the school’s musical with song and dance steps despite her challenge to memorize. She has friends over and also goes to sleepovers, although I worry about medicines and how her sluggish system will affect her during the night.
I’ll share specifics in another post about her diagnoses but I fight so for as long as possible, our child won’t have to.
The consequences have been steep, honestly. I believe I went into early menopause in part due to the stress we had those first few years. It is lonely. This is a fight my husband doesn’t want to be involved in. We made it through the worst experience when she nearly lost her life at 3 months old. Anything else that isn’t life or death, I can’t blame him. But she needs the labs, the IEP, appointments, prescriptions, advocacy. It falls on me. This year has been challenging as she is understanding more about what doctor appointments are about and what others say around her. It only puts more fight in me.
I fight for answers. I fight for our daughter. And I’ll fight after this week of awareness is over. That’s what moms do.
It was probably eight years ago, maybe longer. The kids were with grandma and my husband and I were on a fact-finding mission. We looked into adopting a senior dog and wanted to visit her before making a decision. It wasn’t local so we plugged the address into a GPS and went on our way.
Once the task was done we realized we didn’t have to go the same way back. We had fun with back roads and country highways, landing at a small town restaurant for dinner. It wasn’t fancy but it was good eating.
We realized had we went the normal route, we would have missed that nice side trip. There was the great dinner and interesting scenery.
That’s the memory God dropped in my lap this week as I went for a routine appointment for our child. Although with puberty on the horizon I’ve been trying to plug those coordinates in my emotional GPS, I was still thrown when I received an update I wasn’t expecting.
The doctor ordered an x ray and now that result is in. It appears as if what the doctor feared was happening is a reality. And once I follow up with her and receive her guidance, we will most likely receive treatment.
I’m pretty rock solid in my faith.
For everyone who comes to me in prayer or God prompts me to pray for.
But when it’s within our walls, boy that’s tough.
I didn’t plan this trip.
This is a detour I wasn’t expecting and I know for sure our child didn’t ask for it, either.
That night where we had a wonderful night we never would have enjoyed had we stayed the course.
That side trip.
That’s where I’m at. God’s not a liar. He’s promised that girl is an overcomer and He’s confirmed it over and over. This side trip surprised me, but not Him.
With this new route we hope to avoid complications and actually have progress and praises.
I think it’s a road worth taking.
I’ve mentioned here and there that we have a child with what we deem minor special needs. Her first year was critical and much has stabilized. As she’s maturing, I’ve been preparing myself to watch for new things.
Already lab results have changed and we have a new specialist to call. It would be easy to worry and at times, I fall prey. For the most part, I’ve learned to trust the promise regarding her, that she is an overcomer. And trust the One who gave her that promise and created her. She’s been through so much and has overcome.
In the hardest times where care was constant, her face kept me going. Always smiling. A twinkle in her eye. If she wasn’t falling apart, how dare I? That face continues to encourage me, because it still has that smile that chooses sparkly things, loves to write, and is so creative.
What I learned not too long ago was that face was also an indicator that something was off. There were so many other things to tend to when she was younger everyone missed the signs. The blessing was most people with that diagnosis also were having seizures, and she never did. Another reason she wasn’t diagnosed as early as others.
Even as her face is something for a specialist to realize there is an issue to monitor, that same face ministers to others. She was maybe six weeks old when I was on a Wal-Mart run. I was used to running in and out but that day, and many, many times after, someone stopped me and because of her face, was drawn in. And they open up and start confessing their lives. My life changed that day. I no longer plan to get in and out of places. God’s often stopped everything to have people start sharing with me. I’ve learned to encourage and pray. She keeps smiling. And lives change.
My life has changed thanks to that face. I too look for sparkles and pizazz. I’m not afraid to try new things. I learned there’s quite a fighter in me because of that face. I realized a face can be a prayer request and a ministry at the same time.
This week I had a lot of unplanned moments where I was listening or sharing in ways I didn’t think would be happening. I got thinking, it all started back at Wal-Mart when that person saw that face and walked over. That this week I have new calls to make and new meds to pick up because of that face.
And it’s worth it.
Note: Her round face is part of what tipped her doctor off that she has albright’s hereditary osteodystrophy. Nothing life threatening, but another issue we manage through prayer, a good doctor, and regular lab work.