McCune Albright Syndrome


I have been told by multiple people they’re concerned about my absenteeism on the blog lately. I just left you here. Cold turkey. No love note or anything. Sorry about that.

I’ve been very conflicted on whether to post on things that have been on my mind because it’s pretty heavy. I feel like now, I can clue everyone in on what’s been happening over here at Birmingham Bell.

As you saw- we have a new beautiful baby boy, John Tyler. He’s my buddy. He knows this too.

A month after we had my buddy there were a series of events that I wish on no parents.

A thursday evening I took Harper to go tinkle on her potty and noticed some brown discharge coming from her lady parts. It was a little gross, so I just made note to call her DR in the am when they open to see if this is normal or what they think about it. The world didn’t appear to be ending at the time I saw it.

Friday morning I go grab Harper from her crib and take her to my big potty to tinkle. She always “wipes” herself, then I’ll take her to the bed and really wipe her and put a diaper on. Well, I noticed a more pinkish discharge this time and that was my reminder to call the doc. I did leave her a message. I then went to go flush the toilet. In the toilet was BRIGHT RED clotty blood.

This is the part where I flip my $*%&. I call the dr and we both agree I need to load everyone up and head to their office asap. Keep in mind I have a newborn with me. This is a daunting task. John decides to meet me, and he showed up right in time. Both kids were screaming bloody murder and staff were buzzing around trying to help me out because they could see I was struggling.

Doctors always try to be optomistic when talking about your childs health. So ours said “it could be that she fell on top of a toy and nicked her lady parts, it could be a uti, it could be some other infection”… I was clear with her. It was none of those things. What I saw with my own eyes was menstral cycle blood. There’s nothing like it. THAT’S WHAT IT WAS. After a few tests and investigating further- AND seeing the picture I took of what was in our toilet, she agreed that I was correct. This was not a simple thing. It was huge. Our baby girl was bleeding. A lot.

We were sent to the children’s hospital for a series of tests and bloodwork. It was awful. It was basically 4 hours of John holding Harper down while she wailed.

We got home and made sure to spend extra time with her. We were both scared. She was still bleeding. I cried myself to sleep that night. Babies aren’t supposed to bleed.

We got the test results the next day. She had a cyst that had ruptured, but is still there. She also had elevated estrogen levels, and her uterus is visibly showing it’s been getting estrogen to it. None of this is good. She shouldn’t’ have estrogen in her uterus yet.

We flop back to a diagnosis we had discussed when she was just 4 weeks old. She has cafe au lait spots on her back. Only on the left side. This is a big indicator of 2 different syndromes. The first is neurofibromatosis, and the other is McCune Albright Syndrome. NF is the worst of the 2 because it affects the brain and parts of the brain that stimulate hormones. Tumors are common with this. The McCune albright syndrome is where we were leaning now because a symptom of that syndrome is precocious puberty. Although she hasn’t actually started a cycle yet, she is showing signs of precocious puberty in the form of too much estrogen. Armed with all the right symptoms for McCune Albright’s, our dr officially diagnosed her with it. I would cry every time I changed her diaper the week it happened.

It’s not ideal, but it’s better than the other diagnosis. We have to be extra careful because children with this syndrome have bones that will break easily because of the estrogen that weakens them. We have to always keep an eye out for symptoms of another cyst or a cycle. We avoided medications for now since it was a cyst and not a cycle. If she ever were to start a cycle very early she would be on medication until she is around 10. I don’t want that.

Thank goodness we are past that. Thank God for our doctor who kept an eye on this syndrome since Harper was 4 weeks old. Friends and family would tell me that our dr was just trying to scare me. They were wrong. I trusted her with everything I had, and she didn’t fail me.

Moms, trust your instincts. I knew something wasn’t right, but it wasn’t wrong enough for me to ask my dr to run tests on her at the time.

If you know anyone at all with McCune Albright Syndrom please have them email me at birminghambellblog@gmail.com I can’t really find anyone in real life that has this. It’s very rare 1 in 200 million I believe!

Pray that we keep getting the good answers and that none of the bad ones come our way.

XOXO

Bell

PS I almost deleted this whole thing because I have the hippocratic oath engrained in my head. Here I am sharing someone’s medical information! Shame on me!

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18 thoughts on “McCune Albright Syndrome

  1. I’m sorry you all are going through this. I hope you find someone that can relate and offer some information and possible emotional support. Thinking of you and your baby girl.

  2. Prayers for you and little Harper! How terrifying and stressful and with a newborn to boot. I hope you are getting a lot of support and the chance to get some sleep. Hoping for all the best for you guys.

  3. Wow 😦 my heart is so heavy for you and little Harper. I’m so sorry you have to deal with this. You are in my thoughts and prayers, sending loads of love your way

  4. Thank you so much everyone!!!!!! If anyone could share this somehow to help me search for people who are experiencing this disease it would mean the world to me! The odds of someone having this is 1 in a million, and I’m finding that to be very true in my search to find someone else with it!

  5. I am so sorry that your sweet family is going through this and especially precious little Harper. I will keep you all in my prayers and be on the lookout for anyone else who may have some information that would be helpful for you. You have to be such a strong lady and one heck of a mommy. I have missed your blog. I’m just really sorry that you were MIA under these circumstances.

  6. I was just browsing through some old files concerning my daughter’s health and decided to surf the net to see whether there were some new(2013) articles about MC Cune.She was diagnosed 20 years ago and apart from going Twice a year to hospital in order to see an endocrinologist,taking Teslac for 3 years ,and my forbidding her most sports except swimming and biking(might break her bones),she is a 27 year old woman,as usual as they come and doesn’t think of MCCune A unless she breaks her arm by slipping or being pushed!
    I was devastated when I heard the diagnosis,was inspected at school 2 days later(disastrous) and I can understand your anxiety(she was well-looked after till she was of age:after all she was a”rarity”.
    Then followed a horrible limbo period when I was left to my own device,fortunately I found a group founded by parents of MCCune A sufferers and I advise you to look out for the same in England. Ours in France is called ASSYMCAL(Marseille)
    Your daughter should be OK:love to her

  7. sorry,I didn’t think it was Birmingham (Alabama) Americans are much better at bonding than we are so you should find a group.
    Don’t look at the pictures of MC Cune because you will have nightmares. I can assure you my daughter is goodlooking.

  8. My mother has it as well… it’s so sad.. and heat breaking to see what she has gone through since I have been alive and able to actually comprehend what is happening with her.. it’s for sure a rare disease..

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