After living without a diagnosis for so long we understood that when (if) Nate did receive a diagnosis it would be something a bit on the rare side. I somewhat naively assumed the diagnosis would come with facts, support, and suggestions about treatment and management. This Rare Disease Day the focus is on “the rare reality” and the reality is I was quite wrong.
When Nate was diagnosed with ATRX there were approximately 200 documented cases worldwide. That number is probably nearer 300 now, but the world is a big place and that’s still a very small number. We are lucky to have the support of a lively ATRX community on Facebook and the ATRX Foundation in the Netherlands.
All of the families are facing their own challenges with ATRX. Young people and adults with this condition vary considerably in their level and type of need. Men and boys with less physical or medical symptoms often have severe mental health battles. We have young people with every symptom associated with ATRX, but also a larger group of youngsters diagnosed with a much milder version of the syndrome. In stark contrast the community has lost children and adults to the health problems this condition brings. Nate sits at the severe end of the ATRX spectrum with his multitude of medical issues and PMLD. What we all have in common, however, is dealing with the unpredictability of the syndrome which likes to throw up new and unexpected issues. Each symptom in itself can be difficult to manage, and while medical issues such as gastro pain are well documented, there is often no clear treatment path after more obvious solutions such as reflux medication have been tried. I’ve blogged before of Nate’s horrendous gastro pain and at one point we were referred to palliative care at another hospital in an attempt to “manage” it after his own gastroenterologist had run out of ideas. Within the complex community it isn’t uncommon for medications to be used outside of their licence in an attempt to treat symptoms that don’t fall under their list of primary uses. Using medications in this way will usually mean prescriptions from hospitals in addition to those you request via your GP. Much time is spent ringing for and collecting medications. Nothing runs out around the same time... it’s a right faff on.
ATRX syndrome is an X linked condition. This means females can carry the gene without being affected, however all boys with the faulty ATRX gene on their X chromosome would have the condition ( due to having only one X chromosome). Method of inheritance seemed quite cut and dried. I am a carrier of the condition and so any boy I conceived would have a 50% of having the condition, and any girl would have a 50% chance of carrying the condition. ATRX is very rare, however more cases are being recognised and documented due to advances in genetic testing and as a result it has become apparent that the inheritance of the condition is more complex that it initially seemed ( or at least was explained). Because we genetic females have 2 X chromosomes if a faulty ATRX gene is present on one X chromosome we usually have a healthy back up in the other. If there is an issue with the usually healthy X chromosome then girls can have ATRX syndrome and show symptoms of the condition. In addition to this the emerging evidence of mosaicism within the syndrome ( where a genetic fault is not present in all body cells only the sex cells) both males and females could carry the condition and genetic testing using blood would not show it. In these really really really rare cases a male could be unaffected but pass on carrier status to his daughters.
So what does and doesn’t work for rare individuals and their families?
Consistency and transitions
Nate has had the same paediatrician, neurologist and respiratory consultants since birth. Due to his frequent hospital stays some young doctors we knew on wards have now been added to his every growing team of consultants. They’ve all seen him at his worst but also when happy and well. Understanding how much Nate enjoys his life is vital for those treating him. Medically on paper he sounds like he has a shitty time of it, and he really doesn’t. These professionals get a pass on saying “children like Nate” as although they are talking from their vast experience and not another ATRX er, they certainly aren’t talking out of their arse ( unlike many people we have come across over the years).
Consistency means that they know me too and they know that if I contact them worried it’s REALLY something to worry about. In contrast we have been through 4 or 5 social workers which is pretty unhelpful. They have such large caseloads that it takes time for them to grasp the issues we need them to tackle. Consistency means not having to retell the last 8 1/2 years for the millionth time. Lack of consistency leaves gaping holes in communication between the multitude of professionals involved with our family leading to errors in their understanding of situations and delays in funding and provision.
GPs! We terrify them. I have been asked why I’ve brought Nate to see them and not just taken him to hospital. Or they’ve simply sent me straight up. I asked a GP to listen to Nate’s chest once as he had a cold and cough and I wanted reassurance. The doctor asked “ does he have breathing problems?” Bahahahahaha just a few. This was his named GP, lead on the practice, and he then asked me if I thought he needed antibiotics. When Nate reaches adulthood ( crosses fingers) his GP will take over his medical care. I can’t see that going well. There needs to be some sort of commonsensical planning to enable GPs to familiarise themselves with these young people over time.
Honesty
It used to frustrate me to be told things like “ we don’t know” but actually honesty is the best policy. Out of your depth? Just say so followed by doing your best and/ or passing us on.
A flexible approach
Everything needs to be flexible. Employers employ parents of rare kids and they need the flexibility to attend a multitude of appointments and hospital admissions.
Schools need to be understanding of absences and that health within school will fluctuate. Staff need to be trained and confident on any health needs. They need to understand and respond to often very subtle communications. With many rare conditions progress developmentally can be excruciatingly slow, may regress, or plateau. We want you to never give up but balance this with realistic expectations. What works for one child may not work for ours no matter how similar they appear. Making progress is great but actually, for me, enjoying his life and time at school is equally important ( sometimes more so).
Timescales
For the love of God ring me back! If you say you are looking into something, or testing for something GET IN CONTACT! Waiting for results is painful. Waiting for any phone call is pretty painful to be honest and many parents have considerable justifiable anxiety around this sort of thing. If you’ve not been able to do something, need more time, or are yourself waiting JUST LET ME KNOW. It takes minutes to ping off an email. If someone says “ you will hear in 2 weeks” you can guarantee this parent will be banging on your door once that time is up. Much of the time we act as our child’s PA, making appointments, taking phone calls, writing emails, and chasing things up. The chasing bit drives me crackers.
Sharing information
On diagnosis the first thing any parent does is hammer google. With extremely rare conditions research into treatment can be sparse and what is documented about a condition can be highly generalised. There seems to be no one checking and feeding back to parents about publications regarding rare conditions. Within our ATRX group parents share anything they find, but surely there’s a better way to keep everyone up to date with international developments? I would want to receive notifications when anything about ATRX was published, or about any ongoing research we could be involved in.
Be willing to try
Think outside of the box. Look into new treatment and therapy. Try to help Nate and us.
Final thought for the day- you will probably have never heard of ATRX syndrome but neither has any professional we have ever met.
Thank you for explaining the details of this very rare disease x I hope you continue to move forward caring for your lovely boy, Nate x
ReplyDelete