One of a kind

Stacy and Jonathan are parents to Lois, a beautiful little girl whose condition makes her truly one of a kind. Lois has an ultra-rare condition, a 5q15-23 deletion.

At Stacy’s routine 20 week pregancy scan a problem with Lois’s heart was identified. After seeing the fetal cardiologist, they found out that her heart was missing the pulmonary valve and that she had a small hole in the bottom two chambers. Due to this her heart was enlarged, and the muscle wall had thickened, so the right chamber was quite small. It was at this point that a few different genetic syndromes were first mentioned as a possible underlying cause, and genetic testing was suggested.

“Because her prognosis was so poor, we didn’t see the point in doing the genetic testing at that time. There was no benefit to doing it then because of the risk of the testing. Then they offered us a termination, saying if she is born, it’ll likely be that palliative care is needed. We decided to go ahead with the pregnancy and look at testing when she was born, if it was needed at that point.” As the pregnancy progressed Stacy was monitored closely with extra scans and when other complications arose, they were handled well. Each milestone in the pregnancy was passed and at 37+5 weeks Lois was born. At this point blood was taken from her umbilical cord and sent off for genetic testing.

“Lois had microarray testing and she was part of the ‘Nextgeneration children’s project,’ which was about doing whole genome sequencing quickly for babies in NICU. It is important to identify children who are poorly in NICU and identify any genetic issues that will impact decisions about what interventions and treatment plans are needed going forward. Our genetic results came back quickly; the letter was dated two weeks after her birth but it wasn’t until she was about 6 weeks old that we got the results. Lois was back in ICU with a respiratory syncytial virus and the genetics team came and said she was not matched to any others on different genetic databases making her unique.”

Having no one else to compare her condition to causes difficulties when planning care. In addition to waiting for heart surgery, Stacy and Jonathan have been advised that she will need screening on her bowel from age 9 or 10. Alongside this, they have been told she will have learning disabilities, but it is unknown how her deletion will really affect her as she grows.

“Probably the most helpful thing we were given initially was an information guide from Unique. Whilst it was for children who had a deletion on 5q22 it has acted as a sort of guide as to things we might expect. On the whole though most of it has been kind of finding things out as we’ve got there.”

Lois’s care involves a considerable amount of communication, coordination and work for the family. They would very much like a more cohesive plan and improved communication between departments. “For instance, the community teams, like physio and speech therapy work on a different database to the hospital, so all those bits of information aren’t shared. When you throw in school and other people it’s quite a complex picture.”

In addition to the coordination, it is difficult to know who to contact when Lois has an issue or is unwell. “There was a point where we were we were going to the GP fairly regularly. Each time we’d go they would do a bit of an assessment and because they just don’t know how she is affected we would then be sent to the hospital. If she was a ‘typical child’ they might have been more confident in treating her. It got to the point where we thought actually maybe we should just bypass the doctor and go straight to hospital.”

Having to explain her condition is time-consuming and even the most knowledgeable of doctors and specialists can’t know every aspect of how it will and does affect her specifically. Not knowing how her condition will impact her in the long term causes the family much anxiety.

“Lois has got a cleft palate, but they don’t want to repair her palate until they can assess her speech, which they can’t do as she’s non-verbal. We don’t know if she will speak in the future, we are kind of stuck in a loop.

There are a few things like that with medical decisions and stuff where we think, well, we don’t know how that’s going to affect you in the future, so is it worth a risky operation? Making medical decisions can be quite hard.”

To help keep track of everything Stacy and Jonathan are organised and believe this has helped them navigate Lois’s care. “I would suggest anyone in a similar position have a good filing system. We had to get all her information together for the DLA application and having everything in one place made it slightly easier. We must have had about 70 or 80 pages of evidence we submitted, it wasn’t easy to do, but it was easier because everything was there, and it was all filed. Without it, trying to find evidence for things would be very tricky.”

Awareness is important to them, more so now than ever. “Since having Lois I have become very aware that each person’s story and experience of a rare disease is completly unique to them. It’s not just saying, ‘you’ve got this syndrome so it must be like this’ but, actually really valuing each person’s uniqueness and their journey. Not having an easily identifiable condition definitely makes things more difficult.”

Even some medical professionals that the family have come across during their journey have struggled with Lois’s diagnosis and how it affects her. Although this is understandable to the family due to the rarity of her condition it still adds to the frustration they feel at times.

They find some professionals make assumptions about how Lois should be because she has similarities to other syndromes, but this isn’t very helpful to the family. “So, we had one professional who was brilliant, and she said to me ‘you are the expert in your child’s condition. I’m not even pretending that I know anything. How do we proceed from here?’ and I thought that was incredibly vulnerable of a very experienced and well qualified consultant to say that. I really valued that. But then we had one medical professional who told me that because her diagnosis wasn’t named that it wasn’t really a diagnosis and that Lois will probably catch up and I just needed to put a bit more effort in!”

“We celebrate all the small things. Lois is probably her own biggest fan and she likes to celebrate herself. She’ll do something and then she will sit up and clap looking around the room waiting for one of us to join her.

I think having any child is difficult. It’s still a whole new learning experience. We may be learning more stuff, certainly more medical things, but for us it’s quite important to remember everyone has their own struggles.”

This also leads to the advice and opinions of others, assuming that a ‘one size fits all’ parenting style will work when in reality it’s far from the truth. As parents, we all know how different our children are and how they adapt to life. “The best piece of advice I got from someone was just don’t listen to anyone. Just you do you. I carried that with me, from even before Lois was born.”

Lois attends mainstream school and is adapting to school life well with 1-to-1 support in place. There are obstacles, just like for any child adapting to school, but her parents love watching her friendships blossom, and she is learning makaton to help her communication. This is something her teachers and other pupils are also doing it can only ever be a positive thing, that the children are learning about differences and acceptance from a young age “hopefully they will grow up with a bit more awareness. Hopefully, they ask questions, and the teachers can help them understand difference.”

Since her diagnosis, her parents are learning a lot through her. It has strengthened their relationship and they say everything they do is as a team, leaning on the strengths of the other. “I think the most positive thing for me has been Lois has just taught me so much. I’ve learned so much about the world. Seeing it from her perspective, she’s made me see the world differently and made me probably more of a reflective and critical thinker. I think one of the hardest things is working out what’s going on for her. What’s happening? How do we help that? She’s very rarely upset or angry. If she is, it’s not just your typical temper tantrum she will be like that for a reason.”