Ok, so I’m not actually going to post a pic of his geneticist, or give any names but this blog will give you a little background on Jaxons geneticist, what he does, and our most recent appointment with him which was this morning (Tuesday 1st May 2018).
I originally met the genetics doctor in November when Jaxons heart showed us that cytomegalovirus (CMV) was not his only issue. I explained in ‘Went to hospital with a 6 day old, left with a nearly 2 month old. Why..‘ that as Jaxon had been diagnosed with CMV which is known to cause disability, many of his medical issues were put down to that at first. However, when Jaxon echocardiogram revealed a hypertrophic cardiomyopathy (HOCM) in November, that big ol’ umbrella was far too stretched (for Jaxons heart diagnosis: I just heard the words no new mother should ever hear..). So Dr.G (this is not his actual name, I’m just bored of repeating geneticist) was called in and sent a lot of bloods for genetic testing. The genetic tests resulted in Jaxons diagnosis of 1p36 Deletion Syndrome (for more information on this diagnosis: Diagnosis and mixed emotions).
Today we went to see Dr.G, it was our first official appointment with him (an outpatient appointment despite the fact he was still an inpatient). It was a nice break from the hospital (he is based at the City Hospital so we got to escape Queens for a little and we were lucky enough to catch some rays).
We had spoken briefly during passings at the hospital. After the 1p36 diagnosis (which didn’t cover his HOCM either) I had kept asking him at any opportunity if any more results were back (they had sent sooooo many tests). He kept informing me that things were coming back normal and they did not expect another genetic diagnosis because that would just be insane (my translation, not his actual words). Also heart conditions were associated to 1p36, just not the one Jaxon had. So Great Ormond Street has decided they believe Jaxon just has a “rare manifestation of a rare condition”. In other words, Jaxon was the ultimate anomaly. Like hey, not many people have this I’m gonna have it! But wait, a few people do have it, so I’m gonna add to it a new thing so I’m rarer than rare! *insert eye roll emoji*
Today’s appointment was more about getting the blood results of my testing. I had genetic tests sent to find out of my DNA had caused Jaxons 1p36 back in January. Genetics is a little over my head but from what I understand some babies born with 1p36 get it from a “glitch” in one of their parents genes. I hadn’t thought too much about it until now but heading to the appointment I was suddenly a bag of nerves. If I had a gene that caused this, there was a 50/50 chance of any future children having 1p36 too. I’d thought about future children on and off since Jaxons birth, alternating between being crazy broody and never wanting any more children (hormones) but I’ll write another blog one day on my thoughts about this. For now, we’ll keep to this appointment. My bloods showed no abnormalities. His dad hadn’t yet had his bloods taken so we still weren’t sure where this came from. But more than likely, it was just that one egg or one sperm that caused this spontaneously – how crazy is that.
To my surprise, the appointment did not end there, Dr.G had more to tell me. Since the clinical fellow in Leicester had mentioned Barrters Syndrome, I had been asking about it but people didn’t seem to entertained by it (they must hate me how much I question and persist!). I had kind of let it go a little because it didn’t make a difference to his treatment. However, Dr.G showed me an interesting graph displaying Jaxons blood results over the past 6 months for his sodium, potassium, urea and chloride (don’t worry if you don’t know what these are, just know your body should keep them in normal ranges naturally and they’re important) and they were all just totally abnormal way too many times. I knew this but seeing it there on a chart showed me how bad it really was. Dr.G highlighted this was not normal, especially over a prolonged period of time and explained that whilst 1p36 was associated with kidney problems, it wasn’t associated to anything of this extreme (your kidneys control your bloods to a certain extent). He explained that he hadn’t been aware of this previously, probably because it was always controlled by supplements. Jaxon had been on oral sodium supplements constantly since around November. Sodium looked the best probably because of this but he shouldn’t need the supplements. His potassium was a lot worse than I had realised with how often it had dropped. He been a on supplements occasionally for this. His Urea was also extremely abnormal. The idea didn’t surprise me so much as it indicates dehydration and with Jaxons constant vomiting that was an ongoing issue which made sense. I’d heard nothing of his chloride being low until now. The last blood gas back in February showed a high PH aswel making his blood alkalosis which can cause weakness (interesting).
This discussion led to Dr.G asking if I would consent to further investigations into his genetics to find out if he does have Barrters Syndrome. Of course I agreed. The diagnosis wouldn’t change anything except understanding and awareness, which I’m always down for. Plus they still had his blood in the fridge so he didn’t even need to take more, win-win.
After all our discussions, Dr.G examines Jaxon physically asking about his strength and development and also with my consent took a portrait and profile photo of Jaxon. This was to see any changes in future but also because many genetic disorders have facial features, most commonly known is probably Downs Syndrome, however 1p36 has vague and variable distinguishable features.
Dr.G also asked how I would feel about a written report published on Jaxon. This didn’t surprise me. He was beyond rare. If he had Barrters, he would be the first to have 1p36 AND Barrters. 1p36 is estimated to affect 1 in every 5,000-10,000 births and Barrters is estimated to affect 1 in 1,000,000 (YES, ONE IN A FRICKIN MILLION). How do you end up with both Jaxon?! That being said, he may not have it. It may just be coincidental that he ticks all the boxes. Interestingly, when Dr.G did his research (I love that he’s been researching hard) there are different types of Barrters Syndrome and Type 3 is a mutation of the CLCNKB gene which is located at 1p36.13 – the coordinates Jaxon has missing. To explain this a little better the “1” stand for chromosome 1. “36” is the region of chromosome one that is missing. It can go into more detail such as 1p36.13. Jaxon has 1p36.13 missing, the same location of the CLCNKB gene for Barrters Syndrome. To complicate matters more in order to have Barrters Syndrome both pairs of the chromosome must be damaged (for lack of a better word). This would mean both me and his dad would have to have one of our gene to pass to Jaxon, but my bloods show nothing. Therefore it was have to be one from his dad, and that Jaxons other was just from himself. Never seen before.
Don’t worry if you shut down somewhere in the last paragraph, I struggled writing it. Put simply, my bloods/genes are all “normal” (I know a lot of people in the disability community hate that word so I apologise) and therefore it seems Jaxons diagnosis are all spontaneous although his Dad is yet to be tested. Jaxon has confirmed diagnosis of cytomegalovirus, 1p36 deletion syndrome, a hypertrophic cardiomyopathy and now we are waiting on results for Barrters Syndrome which affects 1 in 1 million. Yay.
I’m sure you learnt something new today if nothing more. I know people read these blogs for different reasons whether it be for updates on Jaxon because you care, knowledge of the patients perspective as a healthcare professional or to relate because you also have a sick baby. Whatever your reason, I enjoy writing for you and informing you. Your support and encouragement goes a long way and who knows who it may help. As always, feel free to share this blog with your social media network.