The curious case of BBG

So I have quite a few people that are new to the blog so thought I would quickly do a blog post specifically about BBG and her hypotonia and other abnormalities.

Now when I was pregnant I didn’t feel BBG kick, I felt her float around, I felt her back when I prodded my stomach but no kicks. I was concerned but over all everyone was saying her heart rate is good she is fine. She was born by induction 3 weeks early. She had a very brief feed right when she was born but no more then 5 minutes. After that she did not move AT ALL, she did not feed or cry. She just slept. I was kept in hospital and set an alarm so that I would wake up and express and have a midwife feed BBG through a syringe. I eventually got her to feed and had enough of hospital by then and I did discharge myself and BBG. I was allowed home as my midwife had already agreed to see me everyday for the first week due to my previous post natal depression.

I was sent home and still BBG didn’t move, or cry. However she did eventually feed with a lot of persuasion and not for long but I would feed her every 3 hours even if it was only for 2 minutes a time. The midwife would come in and see her and although she lost weight it wasn’t much, so whatever she was getting in the 2 minute feeds was sufficient.

She slept through the night, she still didn’t eat properly or move but I carried on. At 8 weeks she had her GP check up. However the GP wasn’t happy with her neck and a couple of the other reflexes. I was told this was normal for babies born slightly early and to come back in 6 weeks if she was still the same.

Fast forward 6 weeks and she was still the same, reflexes were diminished and her neck and head control were not there. We were referred straight to our local hospital and Dad and I were sitting there, at the end of October 2016, waiting for the consultant, we were so worried. We weren’t sure whether it was something majorly wrong or not, or even whether they would see anything wrong with her.

However the consultant was extremely perplexed. Although BBG was now moving on her good days, she also had her bad days of being back to not moving. He did however see what we saw. BBG had blood tests, urine tests and was booked in for a brain ultrasound and we were told to start physiotherapy. We were told we may never know the cause of her symptoms.

In January 2017 we started physiotherapy. The physiotherapy report showed hypotonia and that BBGs hips weren’t right. We soldiered on with our daily physio and carried on with our lives.

In February 2017 all the results were back. They were inconclusive, the brain ultrasound however showed nothing and the basic standard genetics testing came back negative. The normal blood test results however came back as confusion. Our consultant decided to write to Great Ormund Street hospital (GOSH) and a Cambridge hospital and warned us that they may not see BBG and that if they did it will be a very long wait, we probably wouldn’t be seen until Summer ’17.

Again we carried on physio. BBGs bad days were still there and she was getting bad days sometimes lasting 3 days. 3 days of bad feeding, 3 days of no movement what so ever. The only thing was, she was completely with it on these bad days so it was horrifying to see as she was like a vegetable. On a good day she was still behind, still not rolling still being taught to reach out for toys, still being taught to move her arms in a coordinated and controlled way.

March 2017, I was shopping in the supermarket. BBG was making no major progress, however she was now able to grab and play with toys if they were put in front of her, not too far or not too near. I got a phone call from GOSH, they wanted us in MONDAY, not in a few months, in 68 hours! I was shocked.

That Monday was the worst day of my life so far. We got to GOSH and was not left alone other than for an hour so we could get some lunch. BBG had needles stuck in her muscles, and these sent electrical pulses into her muscles and she SCREAMED! We were told that we had been seen so quickly because the way that BBG had such good days and then such bad days with no correlation to exercise, food or weather can mean that it is life limiting. Life Limiting…. that word hits you like a tonne of bricks! Not once had I even thought my baby, my precious baby could die. The needle test came back that something was wrong but it didn’t come back as a pattern that they knew. It suggested maybe Myasthenia Gravis (MG) or a similar much rarer condition, however after having needles put in the muscles between the eye and temple and electrical pulses put into her again this was ruled out. The consultants asked if we had any questions and we said no, and their response was ‘good, as I don’t think I can answer any questions you have’, it wasn’t said in a nasty way, it was just she honestly had no clue. They hadn’t seen a case like it before.

GOSH’s report came back. As she was having a brilliant day we weren’t expecting a lot to have been noted but the report had around 20 body abnormalities, ranging from prominent veins on forehead to a barrel chest to oral dysphagia. Pretty much from head to toe there are abnormalties. It was a kick in the stomach that I had just seen the hypotonia, I hadn’t noticed anything else and then seeing it being written in a report I suddenly could see it in my perfect girl. I saw her head is thin but long and the shape has a long confusing name, but it basically means it’s wrong. I see that her tongue and lip do tremor, I see the diminished reflexes. GoSH did another brain scan that showed fluid on the brain that wasn’t there in the December scan. They are doing my in depth genetics tests but we haven’t had the results yet.

For now we keep doing her physio, she is now rolling however can not sit. We still have to have one of us in the bath with her to wash her safely and are awaiting a charity to let us know if they will fund a special bathing chair. She still can’t feed properly and gets extremely tired. Some days she can manage a couple of mouthfuls of a puree other days she chokes and gags. When she laughs or is vocal for a short period of time she looses her breathe and her muscles struggle. If she laughs or is too vocal for a long period then she throws up and gasps for air as she has stopped breathing for a bit. Our consultant has advised as they do not know what is wrong with her, they can not rule out that her chest muscles will give up, so we are waiting to hear back in relation to CPR classes. When they said that I realised our worry still isn’t gone.

Her bad days still see her not moving and only her eyes move. She has made no progress on a bad day. Her muscles just shut down. She now screams in pain, the night after she has a bad turn, she can be up all night just screaming and without me being able to soothe her. It is soul destroying. She still does not move at all at night or when she is a sleep and will stay in the same position from the moment you put her down to the moment you pick her up in the morning. We recently got told she has scoliosis. The list of symptoms is ridiculously long.

She is globally delayed, but got teeth this week on time which we loved as it was like a normal baby, she has abnormalities, she is confusing every consultant she sees… but she is my girl. She is progressing in her movements, she is now starting to babble, she can eat a few bits of purée even if she gags on it, she has the best laugh that when she laughs you want her to laugh forever before she reminds you she can’t. She is BBG and is special.

Top photo is a bad day where she just needs to be held and the bottom is a good day where she needs support

Her journey is just beginning but her journey has not ended and we will give her the best we can. Hypotonia children whether they have all the abnormalities BBG has or not, are amazing as you realise how amazing the body is. You will cry so many tears, you will cheer so many times at things you didn’t even know were special (BBG splashed for the first time in the bath a couple of weeks ago).

We don’t know what the future holds, whether her bad days will finally progress or not. Whether her good days will line up with other children or hit a peak and not progress further. We still don’t know if she has a life limiting condition and this is always in the back of your mind.

She is complicated due to the rollercoaster of good days and bad days, this mixed with her test results and abnormalities are completely confusing the drs, but they all agree she is rare.


4 Comments Add yours

  1. Rebecca Zaja says:

    Hello. i recently came across your website from the article on the Firefly Friends Community page. Regarding BBG’s symptoms, have you had her tested for Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)? My daughter Stella has SSADH and Rett Syndrome. A lot of the things you describe sound like my Stella and her symptoms. We went through a lot of testing before we eventually had a “clinical exome” test of her genes and that is when the SSADH and Rett Syndrome showed up.

    Good luck to you. Keep fighting and keep sharing your thoughts and struggles. As a parent of a child with disabilities, it is comforting to read them, to know I am not alone.


    1. Thank you so much for letting me know about your daughter. I will mention it on Thursday when we are back up GoSH 🙂 hopefully they can at least test for it so we can either rule it out or go with it 🙂

      Thank you it’s one of the reasons I started to blog to 1- either help people in my ramblings or 2 have people say that they have had similar symptoms.

      Wishing you and Stella all the best


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