18q- things I have learnt in 4 years
When I got the diagnosis G had Chromosome 18q- I had so many questions about the future. A lot could not be answered by the doctor. Literature, on Chromosome 18Q- was sparse and I scanned (no HUNTED) the internet for information. 4 years on and there is a lot more out there then there was when I first looked.
And so I thought I would sum up 18 things I have learnt about managing and living with 18Q-. I am sure this will be updated! I would LOVE to know what useful things you have learnt along the way that may help other parents.
1. Ear and chest infections are frequent – thus so is the administration of antibiotics to clear.
2. Thrush – The said Antibiotics can cause Thrush (mouth or down below) I have found giving a good quality probiotic after a course of antibiotics has helped lessen the cycle of infection + Thrush + more meds = antibiotics.
3. Glue ear – G has not grown out of the glue ear and it is hard to know when it is affecting her hearing. Often when I see a stunt/ regression in learning G needs her hearing aid.
4. Sensory problems – this is one of the biggest learning curves understanding very early on (6months onwards) how important starting occupational therapy ( with sensory integration ) would have dramatically improved the speed at which G reached miles stones (sitting, crawling, rolling & walking). Start this early and your child shall reap the rewards. Less ear infections, faster cognitive development, improved mobility, attention. (I could go on).
5. One of the most popular questions as parents we have about our child is “When will they walk?”. Many children with Chromosome 18q- are delayed, G was too. She started walking at 2 years and 11months. The story isn’t the same for everyone but a lot of families seem to indicate around this type of time frame.
5. Our children can have feet problems – Gs one foot turns in and she has orthotics in her shoes. Her other foot turned in too but she responded well to daily gentle massage on her foot and gentle stretching.
6. Reflux – From a baby G suffered with silent reflux. This took ages to diagnose. She did not “grow out of it”. Often growing out of it is linked to gaining in physical strength, starting to walk and being more upright. Perhaps as these things were delayed the knock on effect was the reflux has hung around. I still hope she will grow out of it and at 4years old PPI (proton pump inhibitors) medication has been avoided and instead, diet looked at to try and control.
Pillows under mattress and keeping elevated. Or turning on to left side to sleep has helped. Also including ginger in her drinks to help settle her stomach.
7. Unexplained vommiting– or possible CVS. I’ve seen a lot of families describe similar unexplainable episodes of vomiting.
8. Food intolerances – G has diary, soya, Apple and orange intolerances (she had orange juice all the time and apples and oranges were among favourite fruits!) since cutting out dairy unexplained vommiting has decreased from every 6/8 weeks to the last episode was 1 year ago and lasted a few hours instead of a couple of days.
The food intolerances may/may not be linked (I think it is) but worth testing.
9. Sleep Problems was/is a massive battle – this is linked with how our children are processing things and can have difficulties settling down to sleep. Having a routine, dark room, less noise, electrical stimulation off an hour before bed – helped but was still a 1-2 hour (sometimes 4) battle. This is linked to their sensory processing and getting advice from an OT can help you figure out ways to help them settle. G fidgets, chews, picks, scratches, twists and turns. Getting her a chewy bib, putting aloe Vera gel on her scalp (where she itches) filling her nails (even the littlest jagged edge catches her attention) and being close by have helped get her to sleep a lot more successfully at night.
10. I forget about her Nystagmus– with all the other OT/ speech and language/ sensory / diet /physiotherapy- I sometimes forget she has Nystagmus. I forget that it can make things hard for her to see. Or that she can get additionally tired. I forget to blow things up even bigger for her to see. But I’m getting there with the remembering!
11. Speech – “When will they speak!?” Speech tends to come AFTER they start walking. The brain has so much to do – speech takes a back seat while trying to get mobile. G started walking last year. About 3 months later the speech started coming – I can have a VERY basic conversation with her now. A lot is indecipherable -BUT SHE IS getting there! So hold on it will come! We sign, point, use pictures – anything to help her communicate.
12. Speech won’t come unless they improve attention span.
13. The doctors who treat my daughter treat each “part” of her condition separately. They prescribe medication for Reflux, medication for Sleep, medication for infections, medication for Growth. But do not look at her whole medical make up and suggest a long term plan – WE have to be proactive with this. Keep a record of all meds. Read long term health effects – seek alternatives.
14. Growth can be affected with children with 18q – we are awaiting our growth stimulation test (which I am extremely nervous about). If growth is affected then GHT (growth hormone therapy meds) may be prescribed. This will mean daily. Yes Daily injections until she finishes puberty. G is 4 at the moment. That is a scary and upsetting prospect. However many families speak highly of it. I am undecided as to how I feel about it and whether the right thing to do. More research by me needed!
15. Toilet training is hard. The awareness of when G needs to go and the ability to tell me are what we have problems with. She can sit on a children’s toilet chair and go for a wee wee but cant tell me beforehand she needs the toilet. A tricky road but still going to keep trying until it clicks!
16. When you’re not looking the most amazing developments take place. One minute they are “Not doing” a long list of things and you are desperately sad/ anxious/ scared and the next you have a cheeky character who displays amazing resilience in the face of a long list of challenges. And is suddenly “doing” a lot.
17. Ermmmm this one may upset a few people – Doctors / Therapists or ‘experts’ are actually not that expert when it comes to dealing with a child with 18Q and many of these ‘experts’ would rather die than admit they do not know what the symptom are that you are presenting in front of them. Professional Ego Syndrome (I call it, well I don’t but I thought it sounded clever) is rife amongst these ‘experts’.
Take a deep breath and understand that sometimes – they just don’t know. Look for warning signs like, googling 18Q in front of you (I kid you not). Or seemingly ambivalent to certain tests that have taken part in the past.
Sometimes they just come armed with a print off about 18q and feel ‘prepared’ enough to treat your child (pretty scary when in A&E). A small few will admit they just don’t know– others however will make ‘diagnosis’ which can leave you frustrated and instead leave armed with an arm length of prescription medication.
We as 18q parents have to research EVERYTHING, ask other parents, those who may have children with similar symptoms but not same diagnosis.
In the past 4 years I have been the one to suggest my daughter had Hydrocephalus (The doctor ignored me and suggested I was a nervous first time parent – only to find out later she did). First to suggest she may have reflux (The GP rolled his eyes at me and said he would order a scan just to basically shut me up). I have had to refuse sleeping medication and find alternative ways to manage…the list goes on.
18. Being a parent is a blessing and having a child with 18q is an even bigger blessing. I have learnt so much, but my empathy for people living with challenges and their families has been the most eye opening of all in the last 4 years. It takes extra ordinary energy, determination and persistence to do this job!
I would love to know what great nuggets of information you have learnt along your journey that has made things easier for other parents…
Since posting people have left me comments on Facebook regarding their experiences…
- Some have mentioned their children having Dysphasia which upon Googling is an impairment in the processing and or expression of speech and language. It is definitely good to be aware as our kiddos do tend to have S&L challenges.
- There was a suggestion to get in extra help from professionals who deal with sight problems to get low vision education intervention and possibly even looking at blind camps to have the opportunity to socialise with visually impaired children.
- Small ear canals, Thrush and CVS is definitely a commonality in the community and interestingly at least another family found food intolerances was the cause!