If you’re new to my blog, it can look a little overwhelming. If you’ve been following from the beginning, it can still be a little overwhelming. A lot has happened in the last 8-9 months and I write what we experience, as we experience it. This means each blog has been about something new. A new diagnosis, a new dilemma, new thoughts and feelings, new healthcare professionals, and more!
In this blog I’m going to give you a breakdown of each diagnosis, a very brief explanation of what it is, and how they currently affect Jaxon.
This was Jaxons first diagnosis after rushing him into hospital floppy and unresponsive and just 6 days old.
Cytomegalovirus (CMV) is a very common virus which the majority of people will have had and never know because it can go unnoticed or just present as a cold. It is not harmful to anyone except a foetus in uterus. If the mother has had the virus before, her body will have antibodies to fight it and protect the baby. If a mother catches this virus for the first time whilst pregnant it can pass to her unborn baby and lead to numerous health issues.
Some babies are born with CMV without any symptoms and go on to live a perfectly healthy life. At the other end of the spectrum, some babies born with the virus will go on to live with severe disability. Most commonly babies born with the virus will suffer hearing loss.
Jaxons initial presentation was severely abnormal liver function. He would sleep all day and wake for feeds. Because of the severity he was treated very early on with Valganciclovir for the CMV. Most CMV goes untreated unless there are severe symptoms. It was so unknown it took the pharmacist and doctors a day or two to research the best medication and dosage. Jaxon was on this medication for 6 months. The liver dysfunction repaired over time with the medication, although it’s hard to know if it would have done so itself anyway.
Other than that, an MRI revealed two cysts on his brain and calcification which have also been put down to the CMV. It is unknown to what extent the cysts are the cause of his ongoing issues.
Whilst 50% of children born with CMV will develop hearing loss over time, those treated within the first 4 weeks of life may escape this. Jaxon passed his newborn hearing screen and when CMV was diagnosed he was sent for more thorough hearing tests which he passed also. He is due another check soon and will continue to be checked throughout his life at regular intervals as it can develop over time. So we’re not in the clear forever, just for now as far as we’re aware. Though the fact he did pass his hearing tests does shed doubt on whether CMV affected him at all and whether the cysts and liver dysfunction were different issues. There’s a lot of unknown in each of Jaxons diagnosis’.
1p36 Deletion Syndrome
This diagnosis came about following a genetic panel due to the discovery of Jaxons hypertrophic obstructive cardiomyopathy (HOCM). Although, strangely, it was not a definite explanation of the HOCM. It did explain other issues.
1p36 deletion syndrome is exactly what it says on the tin. It’s a deletion of location 36 of chromosome 1. It’s a rare condition that is difficult to explain due to its different effects on different individuals. The best thing I did in regards to learning about this diagnosis was join a Facebook group with 1,844 members worldwide which led me to a UK group with 271 members. Obviously, not everyone is on Facebook but this gives an idea of how rare it is. This group allowed me to connect with other families parenting children with the condition and showed me how different everybody is. Some can’t feed orally, some can. Some can’t move around at all, some can run walk and jump. Sadly, within just a couple of months on the group I observed many posts of families posting that their child had passed away, something that still breaks my heart. However, these groups are a fountain of information and support. I have asked about everything from development, therapy recommendations, personal experiences in hospital, childcare, to travel insurance. They are amazing. I learnt more from them than I did in a booklet or a google search.
Common characteristics of 1p36 Deletion Syndrome:
Low muscle tone: Jaxon is currently 9 months old and just about learning to hold his own head. He is still far from sitting. He can roll onto his side but not onto his stomach (which is probably a good thing as he hates tummy time). He cannot push up onto his arms on his stomach. Speaking with physiotherapy, his limbs are strong but his trunk/core is weak.
Growth/Feeding Problems: At 9 months old Jaxon now has a PEG (stomach) feeding tube. It’s quite a long history with his feeding story but you can read “Why does Jaxon have a tube down his nose?” for why he originally had a NG (nose) tube. He doesn’t feed orally at all and it is unknown why. He has always been slow at gaining weight but since February he has stuck at around 6.7kg which google tells me is around 14lb 7oz.
Development Delay: Aside from the physical aspects mentions in low muscle tone speech is often more delayed than other skills. Jaxon has been very verbal from an early age and does say ‘mama’ (mainly when he’s unhappy or angry haha, otherwise if prompted). I’ve been quite impressed with his ability to interact and express himself despite everything he has going on.
Intellectual Disability: Older children and adults have some degree of intellectual disability. Some children talk and assist with their care whilst others are non-verbal and fully dependant. As mentioned above, although Jaxon is physically delayed I feel he is very aware of his surrounding. His facial expressions, his ability to make it known what he wants (reaching for things), his ability to communicate his distress (complaining when unhappy). He always watches his feeding sets being put together and grabs syringes when giving medication and flushing his tube so I am happy at this point.
Congenital malformations: Jaxon was not born with cleft lip or anything but his brain scan does show two cysts and calcification. These have however been put under the CMV umbrella, though I’m not sure if that’s correct.
Cardiomyopathy: As most of you are aware, Jaxon has a hypertrophic obstructive cardiomyopathy. Though cardiomyopathy are known to present in 1p36 he is the first with the type he has under the 1p36 umbrella.
Kidney Abnormalities: Jaxon also has Grade 4 bilateral kidney reflux which means the urine goes back up from his bladder to his kidneys causing infections. After 8 or 9 infections in his first 8 months they put injections into his ureters (the tube from the bladder up to the kidneys) to try and prevent the back flow, and performed a circumcision to try to prevent infections. This probably would not have been done so young but due to him already being booked in for an operation they decided to use the opportunity as fighting infections is particularly hard for Jaxon and can escalate to life-threatening very quickly.
There are many more associations with 1p36 such as seizures, hearing loss, visual impairment/loss, thyroid problems, behavioural problems (self-injuring with bashing and objects, hitting a and screaming). However, we are yet to face these challenges with Jaxon and I hope we don’t add any more to our already overfilled plate.
? Barrters Syndrome
As you’ll know if you read Meet the geneticist: Are my future babies at risk and more than I bargained for.., we’re currently awaiting results for another rare diagnosis called Barrters Syndrome. I’ve put a “?” in front of this because we don’t yet know if Jaxon has this but I didn’t want to miss out that Jaxons bloods are extremely abnormal, which doesn’t fall under either other diagnosis. In fact, we went on home leave last weekend and he started vomiting again. I’m really hoping it is just a bug and not that we’re starting the cycle again as his vomiting had really eased off the past few weeks. Anyway, the point in me mentioning this was that his potassium dropped again, to 2. Normal ranges are 3.5-5mmol and anything under 2.5 is considered life-threateningly low. Therefore he has been put back on the heart monitor whilst supplement dosages are increased and I’m hoping it will have stabilised by the end of the week. Jaxon has continuously taken Sodium Chloride for over 6 months to maintain normal ranges. He’s on and off potassium supplements but it’s looking more constant since the operation. Potassium and Sodium are not only life-threatening if unmanaged and low but they can also result in weakness, vomiting (so did the sickness cause the low potassium or did the low potassium cause the sickness?!), cramps, seizures and more. So when I explain to people his bloods are abnormal, it’s an acute urgent medical problem. Which without a Barrters Syndrome diagnosis we have no understanding of a cause.
What does this mean going forward?
Jaxon doesn’t have a prognosis. When conditions are rare, there’s often very little information available or much of a history to have expectations. No one can tell us what he will or won’t do and no one can tell us if he’ll be with us for 1 year or 61 years. CMV and 1p36 are known to cause disability, we know he has cysts on his brain and he is clearly displaying delays. I expect long-term disability, I just don’t know the severity. The biggest challenge and threat to his life is his heart but we’ve now had 6 months since I just heard the words no new mother should ever hear.. and he’s surprising everyone. Every time the cardiologists see him each month his heart has always gotten worse but he looks better and better. IN FACT, new flash: his last heart scan revealed NO CHANGE! *inserts happy dance but waits for next scan to get too excited*
All we can do is make the most of each day, encourage him with play, physiotherapy activities and just love him who he is and what he can do. He amazes me everyday.
It frustrates me that he’s in hospital at the moment for no good reason which is no quality of life for us to be living with an unknown prognosis. We need to be out there doing things, showing him the beauty of the world in case he misses it. But I’ll share the lose-lose situation/battle I’m currently experiencing in a new blog on Sunday.
Thank you for reading!
I’m always interested to hear how my blogs come across to readers. Many of you are so so lovely and message me directly on social media but I hope one day to look back on these blogs and smile having made progress, so it would be lovely to see the comments on here.
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