Hellobee Boards

@ LILYOFTHEWEST: Being in limbo is hard. We have experienced a fair amount of uncertainty about our son’s health, as he has chronic leg pain and stiffness that doctors were not able to diagnose for three years. The doctors’ predictions ranged from him growing out of it to testing him for specific life limiting conditions (ie they had no idea what it was or how to figure it out).
What helped me during those times was that in some ways we were no different than any other child or family – while yes he has some symptoms that were concerning, all of life is somewhat of a gamble. We are all lucky to be here together while we can, so let’s enjoy what we can.
We finally got a diagnosis after three years, which has helped with peace of mind. But we still don’t know how severe his orthopedic condition will be and what exactly it will look like as he gets older.
I mentioned earlier in this thread that during waiting periods I have found it helpful to try to do something else related to helping with my son’s health - whether that’s making some calls to other doctors to check in with, scheduling other appointments, adjusting something with his diet or sleep – it helps me to feel better if I can accomplish something else positive towards his health, channeling my worrying energies elsewhere.
I hope that you can get some answers soon!

@anonysquire: Ugh It sucks not having definitive answers. How are they doing with their feeding tubes?

@luckygirl: @Ms. RV: both boys are doing ok with the feeding tubes. They are having way more output than what I’m putting in them, so that’s our current problem. Neither of them are gaining weight because their chronic diarrhea is so bad. It’s frustrating. We had a GI appt yesterday and the poor GI is still baffled about it and wanted to admit my 2yr old because he looks really sick. He’s going to run a pancreas function test and a test for cystic fibrosis. And then will probably admit and start the 2yr old on tpn. Just feels like a crappy route. It’s just frustrating to be following the feeding pump protocol to a T and it not even matter because it’s coming out in 5 minutes anyways.

This is a pic of my 2yr old. He’s in a newborn sweater and newborn pants. I mean I wouldn’t say he looks like he’s starving. He’s small from
His dwarfism.

G-tube is coming out on Friday!!!!!! In the three months he has been off of it he has went up 50 percentiles in weight so it was pretty easy to convince the doctor he is doing fine by mouth.

Hey chronic mamas... has anyone had experience taking their LO to urgent care? DS developed a wicked double ear infection while we were out of state, and I was so worried that an urgent care wouldn't do anything given his history. The urgent care around here is associated with the hospital system, so they (generally) have access to all of his records.

Hi Bees,

I’ve been on this site for a while but just now realizing that I should probably be on this board!

My 3yo daughter was recently diagnosed with a rare bone disease. It’s usually a genetic condition but we believe she has a spontaneous mutation as no one else in our family has it. The orthopedic specialists told us that she needs to come back once a year to be monitored and they will only treat it (with surgery) if it becomes painful or malignant (very unlikely). It didn’t seem like such a big deal at the time and I was just relieved that it was benign!

But now, as I do more research, I realize that it can be quite debilitating and devastating diagnosis for some. It can cause a variety of skeletal issues and pain. Of course I hope she has a mild case but we won’t know for decades and it’s been challenging for me to face this new uncertainty. She’s already in physical therapy and wears orthotics, likely because of this condition.

I did find a specialty center in Florida that is considered the best in the world so we will try to get her there at some point. There’s also a clinical trial with a new drug to treat this disease so we have to think about whether or not we’d be interested in having her participate. Has anyone here ever participated in a drug trial? Would you consider it?

In the meantime, she is a delightfully loving, active, and wonderful little girl who has no idea about any of this!

Thanks in advance for listening, Bees. Sending love to all your LOs who face medical challenges as well.

@Ms. RV: Thanks for the welcome! Yes, the uncertainty is quite difficult. I think I just need some time to adjust and accept. Parenting is hard!

I believe the drug is classified as an orphan drug. It's in Phase 3 of trial for a different bone disease and in Phase 2 for this particular disease. Would you mind elaborating more on the different risk factors between the two types of drug release (or send me in the right direction to research it myself)? I'm having trouble finding information on the internet.

@Ms. RV: Makes sense, thanks!

How do you all handling all the juggling of appointments, information flow between providers, insurance issues, etc.? I feel like all of that is literally a full time job. I am incredibly overwhelmed and exhausted managing everything. My son sees GI, ENT, neurology, cardiology, allergist, PT, OT, about to start speech. Some of these specialists are for minor issues or rechecks that will eventually resolve, I hope, but for now it's so much.

Not to mention work (I'm only working 3 days a week), appointments for my older son (about to start OT and therapy), and all the regular household stuff. We have no family or support where we live and I am not coping super well right now.

Oh, also regarding information flow, I have known people to keep a color coded binder of information. Every specialist gets a different color, but they go in chronological order in the binder.