Rae’s Story.

A friend of mine suggested I do this.
A full blown synopsis of Rae’s medical history from the start.
I would be totally okay if you share this, the more people who read it, maybe someone, somewhere will have a friend of a friend who had something similar happen and they can give us a similar story that may give us another starting point.

This is long, so go ahead and sit down.

20 weeks pregnant I had an ultrasound that showed Rae had 2 vessel cord, meaning Rae had 2 blood vessels sending and receiving blood through the umbilical cord instead of 3 like she should.
I wasn’t informed about it until 30 weeks, apparently my OB didn’t think it was important.
We monitored her growth every 2 weeks until 34 weeks, then every week.
She stopped growing past 35 week measurements and we induced at 39 weeks.
She was a healthy 6 pounds 2 ounces.

Around 2 months I noticed she stopped having bowel movements as frequently as most breastfed babies. She would only go every 3-4 days. Over the next 2 months it got even further between, sometimes she would go over a week without going. Suppositories did nothing and my pediatrician said there was no reason to think there was a blockage. We started solids to see if that would help giving her more fibrous foods.
Despite the constipation, she was unstoppable. Crawling at 5 months and pulled herself to standing at 6 months.
At her 6 month check up, she had dropped from the 40% down to the 15% and had only gained 7 ounces in 2 months.

We switched from our family care doctor to a pediatrician to see her.
The new ped sent us to a cardiologist and a gastroenerologist.
The cardiologist was because Big S (my husband) had ASD; a small hole in his heart that caused him to not be able to gain weight, when he was a baby that required surgery to be closed. Her heart looked perfect!
We tried a prescription of Lactulose for her constipation, which did nothing.
The GI we saw decided it was most likely an allergy.
I continued to breastfeed, but we cut dairy and soy out of both our diets.
At this point in time, she stopped pulling up. She barely crawled, she was generally pretty sluggish and looked pretty sickly.
No change in her constipation after a month.
So we cut out wheat and eggs as well (dairy, soy, egg and wheat free).
Still no change.
We did lab work for Celiacs disease, allergies, diabetes, her blood chemistry, and everything came back normal except high white blood count (which lowered after retest) and low red blood cell count (which also returned to normal after retest). We did a sweat test for Cystic Fibrosis.

Her stools went from being infrequent to hard, black and mucus-y. She would sob when she had to go.
In December, when she was 9 months old, we switched GI’s (not happy with the other one, who barely took a minute to look at her).
The new GI decided we needed to make sure she wasn’t possibly allergic to my breast milk, so we switched her to Puramino, a hypoallergenic formula and continued with her dairy, soy, egg and wheat free diet.
No change.
By this point she was off the weight chart, below the 3rd percentile, and had only gained 12 ounces in 3 months.
We did a barium enema, which showed no blockage.
We were told to do half a capful of Miralax a day, which did nothing to help.
We were referred to a neurologist for her muscle weakness and regression of standing and pulling up. They noticed she had left sided spasticity and hemiparesis. They referred us to an orthopedist, who noted the same things and started talking about leg braces and the possibility that she had Cerebral Palsy.

They decided to do an MRI.
The MRI was clear. Praise God!
Over the course of these 5 months Rae continued to get illness after illness, causing her to gain weight, then lose over and over and over again.

Since her constipation had not improved the next week after the MRI the GI did an endoscopy, colonoscopy and a biopsy of Rae’s intestines to check for any blockages and swollen areas. Then she had an NG tube placed when she was 11 months old.
All the endoscopy and colonoscopy and biopsies looked good.
While we were at the hospital, a geneticist did a chromosome workup to check for any chromosome abnormalities, which there were none.
The hope with the NG tube was to plump her up to the 20% then she would have the stomach capacity to gain and maintain on her own without the tube.

The biopsy was to test for Hirschsprung Disease, and it was negative.

About a month after the tube was placed, the muscle weakness got MUCH better. She started walking pretty normally, she still had a little bit of weakness, but nothing like what it was before.
Her constipation got better when we put her on a full capful of Miralax a day.
But she started getting sick a lot. She had 8 illnesses, including stomach bugs, ear infections and way too many URI’s to count over the course of 3 months.
And during this time on the NG tube, she also started to vomit. She would randomly vomit 3-4 times a week, usually in the morning, after an NG feed, but not always. And the vomit was not her formula, like you would expect from someone with reflux issues. It was thick and yellow and mucus-y and very foul smelling, like bile. The GI put her on Zantac and she’s only thrown up about 4 times (other than a stomach bug she had) since then (last month).

We saw a geneticist in April who did some workups for Mitochondrial Disease and some other genetic disorders. Only a few things were “off” in her labs, including her ammonia and lipase levels, but one of them was her Lactate/Pyruvate Ratio and Battery, which was quite elevated and is a marker for Mito according to the United Mitochondrial Foundation. The geneticist didn’t tell me this right away and I had to call and get her to explain everything to me and she said she didn’t tell me what it being elevated meant because “If she has mito there’s nothing we can do about it anyway, there’s no cure and no treatment.” Obviously that’s unacceptable and I asked them to retest right then rather than wait for our follow up in August. Which they did. We retested a few weeks ago and are waiting for the results now.

Last week we were given the option to take Rae off the tube and see how she would do.
Her weight was 19.3 on Wednesday (5/28), and yesterday (6/3) she was down to 18.14, which isn’t awful.
We’ve seen a nutritionist several times and every time they have said what she eats is more than adequate for her age, but for some reason she’s still struggling.

Our main concerns are how is she so constipated, yet unable to gain weight? My pediatrician has said a few times that she’s had one other kid with this severe of constipation, but the child was so incredibly chunky. Rae still is pretty small.
The muscle weakness has come back since she was taken off the tube a week ago. Her knees stay bent when she walks and her left foot turns under. Her balance gets worse as the day goes on.
The vomiting bile doesn’t make sense either, when she throws up her body has already processed her formula and she throws up what I think is stomach acid, that’s why they’ve put her on Zantac (now switching to Prilosec in hopes that that will stop the vomiting altogether).
The amount of illnesses she get’s is hard to understand as well, I don’t know if she had so many from the tube the past few months or if her immune system is being compromised or what. But since I started writing down EVERYTHING back in January she has been sick FOURTEEN times.
She has had many fevers. She’ll randomly spike a 102-103 fever for no reason, and have no other symptoms. This probably happens 1 or 2 times a month.
Even on the feeding tube, she had weight fluctuation. She’d be getting over 900 calories a night through the tube AND eating solids during the day and still not be able to maintain.
Lab work that was elevated in April was the Threonine Plasma, Lactate/Pyruvate Battery, Lactate/Pyruvate Ratio, B-Aminosobutyrate, and low lipase and ammonia.

Lastly, her head size is still not on the chart. This does not concern me, my husband has a small head, see photos below. But her GI and Neuro were/are concerned about it.

It was 2 years ago, next month, that we found out we were pregnant with Little Miss.
If you had tried to tell me ALL THAT^^^ was going to happen this past year, I would have laughed in your face.
If you have no experience, prayers for her are ALWAYS appreciated.

M

6,868 Responses to “Rae’s Story.”

  1. Rachel Meyer | June 4, 2014 at 8:37 pm #

    Has she been checked for glactosemia?

  2. Becky Kinkead | June 4, 2014 at 9:46 pm #

    What about Hirschsprung Disease?

  3. Suzi | June 4, 2014 at 9:49 pm #

    Received this from a FB Friend, I shared your story:

    Ok I read over it quickly and I’ve got a couple no three things to say:
    1. There are no “cures” for mitochondrial disorders as it is your DNA make up.. It’s simply who you are!
    2, Any mitochondrial disorder is not good some worse than others but they are HORRIBLE unfair diseases that children and young adults suffer from it’s so very sad if they even make it to adulthood and they are rare but done are more rare than others!!
    3. In light of losing Cam to a ugly super rare mito disease words cannot express how sad it makes me feel to hear someone I don’t even know has been diagnosed with one so because of all of this I will pray May Gods will be done and pray for a miracle for baby Rae … Thank you Ann for sharing.. Life is short be grateful for each new day.
    – Sandy Gaither

  4. Anonymous | June 5, 2014 at 3:58 am #

    Sounds like what FIL had at age 60. They are treating him with Glabbagamin shots (spell)

  5. Anonymous | June 5, 2014 at 4:26 am #

    Hi Melissa
    I saw a link to your blog on facebook. I have researched alot into different diets trying to understand my daughters food intolerances. I am by no means an expert and I know nothing about mitochondrial disorders.
    But I just wanted to mention the GAPS diet (Gut and Psychology Syndrome) by Natasha Campbell-McBride if you haven’t heard of it. It’s pretty full on but appears to help so many people with so many different things, I wonder if it would help some of Rae’s symptoms at least. Or at least try some bone broth to nourish her gut and get some nutrients into her. Probiotics as well – did you know that 80% of your immune system is in your gut and intestines, so if she has issues there that might be (partly) why she gets sick all the time.
    Also have you considered seeing a Naturopath or boimedical doctor in conjunction with your regualr doctors? In my personal experience a good naturopath is actually interested in trying to treat and heal the cause of the problem rather than just the symptoms. I’ve had great sucess with a naturopath in resolving issues I’ve struggled with for many years.
    Anyway, I think that new ideas and information is always helpful. I wish you and your family all the best in your health journey whatever you decide 🙂

  6. Katherine | June 5, 2014 at 4:47 am #

    So sorry to read a story similar to a blog I’ve followed. It’s called chasing zebras. It’s about their search for a diagnosis for their daughter. I’m having trouble linking their blog. Search “chasing zebras blog”. Her daughter was eventually diagnosed with a mitochondrial disease.

  7. Katherine | June 5, 2014 at 4:59 am #

    Her email is AnswersforAddison@gmail.com she may be able to help you in your journey.

  8. Ashlee Burke | June 5, 2014 at 1:05 pm #

    Research SCID. I follow a little boys story on FB that has had all these symptoms your daughter is having and that was his diagnosis. He just stopped growing as well back in November and has been in the hospital ever since. Was always sick, had an NG tube, too many other things to even name. Anyway, he had to have a bone marrow transplant and is due to come home in the next week! Worth looking into! Have you looked into the Children’s Hospital in Cincinnati? I hear they’re wonderful! Many prayers for your family and sweet baby girl!

  9. Melissa | June 5, 2014 at 6:05 pm #

    Thank you all for your insights. I’ve written down some of the things I had not heard of before and updated the post to include some more info I forgot to add. Thank you thank you thank you for sharing and encouraging me.

  10. Jennifer G | June 5, 2014 at 6:06 pm #

    have you tried looking at sites like this http://rarediseases.org/rare-disease-information/rare-diseases to see if there is a possible match in symptoms?

    This is the link from the same site that talks about research programs for undiagnosed diseases, maybe you could look into that as well. http://rarediseases.info.nih.gov/resources/pages/24/tips-for-the-undiagnosed#Question2

    I wish you guys the best of luck in trying to find out what Rae has. She is a beautiful girl who is very luck to have suck an amazing family by her side! Sending many prayers your way!!

  11. TinyFeet | June 5, 2014 at 7:28 pm #

    Have you tried looking into Ehlers-Danlos syndrome? There are many different types, but a lot have the GI symptoms.

  12. Anonymous | June 6, 2014 at 1:59 am #

    Hey! A friend sent me a forward to you! My nephew had something called Leigh’s disease, a mito dissorder. My sister has connected to so many through the mido community. If you want to get untouched with her I am sure she who love to talk. Prayers to you and you sweet girl! Susannah Browne