Abdullah's Day to day life with Mocd deficiency

Overview

Abdullah is overall a settled and happy boy, he is the light of our home and an absolute joy to care for. Many days he has short episodes where he is very unsettled and wants to be held tightly, rocked and listen to white noise. Often this is triggered by constipation or fatigue but sometimes it is hard to know the source as it can just be irritation due to his brain damage. But he also has extended periods where he is incredibly settled, interactive and happy. He does go through phases every few weeks when his body is used to medication doses where he may be more unsettled than usual and needs to be held most of the time but he it is rare for him to be constantly upset unless he is unwell.

He benefits from routine, he loves sensory input, physiotherapy, massage, being outdoors and calm social settings but they tire him easily so he just needs an attentive balance. He can be very sensitive to sounds, smells and stress which trigger seizures, dystonia and just being very upset. Some days he absolutely loves going out and some it is clear he just wants to stay home. He loves being talked to, having books read to him, listening to different gentle sounds, warm baths, massage, sensory lights and most of all, his siblings and wider family.

When unwell his symptoms vary in severity but generally his seizures and vomiting can escalate quickly and this tends to be a primary reason for urgent hospital visits. Overall he has avoided too many hospital admissions or severe ill health but regularly requires unscheduled and scheduled review from AnE doctors, GPs, community doctors or specialist consultants. We are so grateful that we have been able to keep him home so much and that we have so much support and advice available when anything changes.

Medications

Abdullah is on over 12 medications which help relax his high muscle tone, reduce his dystonia, keep him comfortable, control his seizures, help him sleep, reduce the likelihood of UTIs, help with reflux and support his bowel movements. As someone who has never been keen on using medications with children it was a difficult mental shift for me to make but it is evident how important these are and we are so grateful for how they help keep him comfortable and allow him to join in with family life.

See my medications template and organisation tips here

Feeding

For the first 15 months Abdullah was fed via an NG tube through his nose. I was trained to pass the tube myself if it came out, as it did regularly. Before that our amazing community nurses or A&E staff did it for us. He then underwent surgery to have a gastro PEG fitted which he recovered well from and we have noticed he seems more comfortable since. It is also a relief not having to worry about the NG tube and the daily irritation it would cause him.

Currently we are considering a Gastro-jejunal tube to reduce vomiting and dehydration but prior to this we are trying a blended, low methionine diet. This would include thinly cooked or dehydrated fruit and vegetables together with a low methionine special milk and his previous high calorie, high fibre milk. We are hoping this will reduce his vomiting, constipation and potentially his risk of UTI’s and severity of seizures.

Seizures and dystonia

Abdullah started having small seizures again when he was around 2 months old. A few weeks after this he had a tonic clonic episode which required urgent hospital admission but was well managed by medication thereafter. After that he would mainly have myoclonic jerks. He then started having infantile spasms. As he grew he no longer had these and instead had longer jittery episodes. These were generally less than 30 seconds, between 10 and 30 times a day when he was very and over 60 times a day when unwell. 

When he is well his seizures don’t generally upset him and he ends them with a smile. We didn’t know that for some people seizures are actually pleasurable and it certainly appears that way quite often with him. He rarely has clustered episodes but these respond well to medication or are usually a sign he is unwell, in pain, overtired, constipated or stressed.

His dystonic episodes started when he was around 2 months also. These tend to be more of a regular issue and can be very uncomfortable and tiring for him. He has very strong dystonic movements. He arches his back and extends his head backwards. When he was smaller, swaddling helped a lot with this. Now, like seizures, it varies day to day and in relation to medications but the same discomforts and stressors affect its severity. Tight holding, warm baths, massage, essential oils, white noise and sensory lights can also help.

Oxygen Therapy

We started to notice an increase in stridor breathing when Abdullah was around 4 months old. Following an overnight oxygen saturation study he was prescribed oxygen therapy. This has helped with his comfort and especially allows us to bring him out of breath holding episodes safely. He had a slight increase in his requirement but generally his oxygen has been stable and many days it is spot on.

We were really daunted by the prospect of oxygen therapy as we felt it would have a massive impact on our lives but it has been so easy to adjust to and it is so easy to go out and about, monitor him at home and to replace oxygen cylinders by delivery. Having a SATs monitor at home to check his oxygen saturation and heart rate is also a huge help because it allows us to keep him home from hospital more and monitor any changes easily.

Irritability

When we first received the diagnosis we were warned that severe brain damage can cause severe irritability and we may be dealing with a very distressed, very unsettled child. However it is a relief to say that this has not been our long term reality. The first year was definitely the hardest as he did require a lot more comforting and was often inconsolable but as time has gone on he has definitely become calmer and happier.

Like all young children, Abdullah is very receptive to our energy and moods. He feels the stress of others with intensity and can become really overwhelmed with emotions, sounds or smells that he experiences in his surroundings. Our self care as parents and taking time to reflect, connect and organise ourselves and respond to our emotions better as a family is incredibly important for us and Abdullah. The more stressed we are, the more we expect him to be upset or challenging, the more those expectations are self fulfilling.

Phone use is a huge trigger for all of us and I have found reducing my smart phone use by using a non smart phone day to day has reduced my stress and allowed me to be more present with my children, thus reducing their stress and allowing us to deal with challenges with the calm energy they require.

Illness

Abdullah has generally been well but just requires a closer eye when he does fall unwell. He coped well with the first strain of Covid and he fights of colds well. He used to get UTIs very easily but controlling vomiting and the use of prophylactic antibiotics has helped with that. Sometimes a cold will last longer for him or develop into an infection but again these tend to clear with time. He has also had infections on his PEG site which cleared well and he suffered from repetitive skin infections on his cheeks and neck before we found a solution that works best for him and since then his skin has generally been clear.

When he has a fever it is generally higher than his brothers and leads to an increase in seizures and rapid dehydration. Sometimes he is very upset and will scream and breath hold a lot but I worry more when he becomes very quiet, lethargic and pale.

We have made the decision to avoid Intravenous access unless he is severely unwell as we were finding that most A and E doctors preferred it as a route of caution, however due to how regular he was going in, how unnecessary it was at times and how difficult he is to canulate, we have received great support from his palliative nurse and local hospital doctor in having a written agreement about who to consult before rushing to place a canula.

Movement and handling

Due to the strength of Abdullah’s dystonic movements and his needing to be held a lot of the time it was a game changer when he got his P Pod which he is very comfortable in. Of course some days he doesn’t want to go in it, but even for half an hour it gives us a rest, allows him to be more upright and he enjoys the position and different views he gets in it. We used to mainly carry him in a baby carrier as we couldn’t settle him in a traditional baby pushchair but he now also has a Snappi wheelchair which again, some days he will not tolerate, but when he does it is such a great help to position him well, get out and about, carry his equipment and he loves the bit of big boy independence he gets with it.

He isn’t a big fan of his cot but he does like to lie on the floor or sofa. Though of course nothing is better than cuddles!