My name is Patricia Jonas and I am the President of ARCAN.
Personally, going through the incredibly challenging experience I explain below and live with on a day to day basis with my Rare daughter Georgia has been one of the hardest things I have ever done in my life. As a result, we have set up ARCAN to help support other families like ours in Australia who have members with a rare chromosome disorder.
We also want to be there for all families who have members who have a disability so they do not feel alone on their journey.
Where better to start to explain how this all came about than by sharing our own special journey with Georgia.
1. Chromosomal anomaly: Arr 5p14.1p13.1(26,169,364-40,073,040) x3 and 5q11.1q11.2(49,638,923-53,299,674) x3
Duplication of 5p: located within bands p14.1 to p13.1, this is of length 13.90Mb, from map postion 26.7 to 40.07Mb [Max. size is 14.08Mb]. This duplication includes approx. 53 genes, from the CDH9 toLINC00603. Of these, the following genes are associated with OMIM-listed disease. SLC45A2, AMACR, PRLR, IL7R,NADK2, SLC1A3, NIPBL, C5orf42, NUP155, GDNF, LIFR, OSMR & C9.
Duplocation of 5q: Within bands q11.1 to q11.2 this is the length o3.66Mb, from map position 49.64 to 53.30Mb [Max. size is 3.4Mb]. This duplication includes approx. 14 genes, from EMB to ARL15 [the latter in part only]. Of these, the following are associated with OMIM-listed diseases: MOCS2, NDUFS4
For each of the genes involved in these two duplications: whether gene duplication per se will result in any locus-specific disease phenotype is unlikely. In summary effect, however, an imbalance for over 60 genes is likely to produce general effects consistent with the proband’s phenotype [as per the clinical notes provided]. No other copy number abnormality was detected.
2. Developmental disability: moderate-severe
3. Macrocephaly, mid-face hypoplasia, epicanthic folds, grade III malocclusion. Review with Craniofacial clinic is happening this week.
4. Mild iris hypoplasia/? anterior segment dysgenesis – pupils do not dilate
5. Obstructive sleep apnoea – tonsillectomy, adenoidectomy X2. Soon to possibly have her 3rd Adenoidectomy as Sleep apnoea has returned
7. MRI 2007 – thin corpus callosum, mild prominence of ventricles, delayed myelination (non-specific)
8. Moderate Hearing loss requiring Hearing aids
9. A Stigmatism in both eyes, long sighted and requiring glasses.
10. Vertical Talus in her left foot, and turn in left tibia – causing mild outward turn in her left foot. Georgia needs custom made orthotics – which were made after 6 weeks of Serial casting to try and correct the lack of arch in both feet.
11. Georgia is also subject to many bouts of happiness, joy and laughter. She has an infectious giggle and a great imagination. She loves her new school and going to the Drama club. Georgia has a vibrant spirit and a joyful soul that will help brighten any day.
Where we began and where we are today.
I was Sick A LOT, not so much morning sickness but with flus, colds, asthma that sort of thing. I put on an astronomical amount of weight (around 30kg) and was huge. The Dr diagnosed Polyhydramnios (http://en.wikipedia.org/wiki/Polyhydramnios) when I was mid-way through my pregnancy. So this explained why I had put on so much weight, but the Dr did not know why I had it. If Georgia was our second child and I knew to ask questions then I might have known more – alas she is not and I did not. So I had the Gestational Diabetes test done twice just to be sure, and both times I was clear. I had multiple ultrasounds and they showed that the baby was fine, doing all she was meant to and nothing of concern.
Her only issue In-Utero was her LARGE Head. It was that large that the Dr said I would need to have a Caesarean two weeks early – for two reasons, there was no way that I was going to be able to push that big head out and if my waters broke she said it would be like a swimming pool. Coming up to the due date we had an ultrasound every week to make sure that there was nothing bad happening and to keep an eye on her head size. The Dr was not concerned about Georgia having Hydrocephalus (http://en.wikipedia.org/wiki/Hydrocephalus) as that all looked ok.
Ok so coming up to due date – we were freaking out a little, having an operation having a baby – so off we trot to the Hospital.
When Georgia was born she was blue and needed to be resuscitated, they got her stable and took her off to the nursery, and hubby went with her. I was being stitched and all the rest and was off in recovery. When I got back to my room, I got to see my baby girl, she was gorgeous. The nurse wanted me to try and feed her – she started to go blue again. So off they go to the Special Care Nursery.
I was in a daze and had no idea what was happening. I did not get to see her till the next day. When I got to speak to the pediatrician he told us that he was going to do some chromosome test to see why Georgia was so floppy having such issues with breathing, her large head and could not suck etc.
This was all another language to us and we had no idea what on earth he was talking about. We were not in a very good state of mind anyway as my Mum had passed away only three weeks before Georgia was born and in the same hospital. I only tell you this so you can appreciate our state of mind – or lack there off. I think we were both walking through this rather blindly and in a complete daze. So this is when the fun started 🙂
The Dr tested for loads of things; did a head ultrasound to make sure for hydrocephalus, listened to her heart and all that jazz. She did have a slight heart murmur, but whatever the whole was it grew over by itself later on and was not to be a problem. The Dr checked her kidneys and they were fine.
Georgia had a lot of problems with sucking, she could not breast feed and we had to use a special teat for a bottle. It was the sort of teat that kids with cleft palate tend to use – it had a cross cut teat and was flat on the top and bottom, this made it easier for her to suck on and meant she didn’t have to keep the Nasal Gastric tube. The Initial blood test came back saying that there was some extra material on Chromosome 5 but the Geneticist would have to look at it and we could follow up with them. Well we were bamboozled, seriously who pays much attention to chromosomes??? First time parents don’t that is for sure.
So we have this precious little bundle, which is floppy, has recessive breathing, can’t breast feed and is still on an NG tube. We were struggling going to the same hospital and my sister explained this to our pediatrician so we got transferred to one closer to home. We were only in that hospital for two days and Georgia was discharged. This was the greatest day ever.
We had Georgia home for two weeks before we had to go back to hospital – I will try to make this brief 🙂
1 month old I was expressing and bottle feeding Georgia, but that took about 2 hours all up, I would then get about 30 mins rest before having to start it all again. Georgia also screamed a lot arched her back and it was exhausting for us all. At about 4 weeks old I decided I could not express and bottle feed, so we changed to formula. This was the best decision as it meant we could be ready for her feeds and I was not constantly attached to the breast pump. At exactly one month old we were back to hospital with Bronchiolitis (http://en.wikipedia.org/wiki/Bronchiolitis) on oxygen and started on ventolin. Dr thought maybe Georgia has Asthma but too young to know for sure. 3 months old: Around three months of age a friend said to me she thought Georgia had Silent reflux, I thought my friend was insane, I had never heard of Silent Reflux. But I spoke to our GP and we changed her formula to a thickened one and also started her on Zantac, it was like we had a new baby. Georgia slept better, wasn’t screaming all night, it was wonderful. Georgia had two episodes of stopping breathing while in the car. Once when hubby was sitting in the back seat and once when it was just me and Georgia. The first time I don’t think either of us realised what happened, but the second time Georgia went from Screaming to Dead Silent – I have never been so scared in all my life. I pulled over, got her breathing and called the ambos – they thought it was just because it was such a hot day – I was too scared to know what to do. – we went home and a few days later we were back to the paediatrician – he saw her change to blue/grey and sent us back to the hospital. This time we were in hospital for almost two weeks. They said it was Bronchiolitis again but also did an endoscopy to check her throat, lungs, nose tonsils etc. This showed that she had a condition called Laryngomalacia (http://en.wikipedia.org/wiki/Laryngomalacia) which basically means floppy larynx. They said Georgia was too young to do any sort of trimming operation of her larynx, and to be honest I think they were too scared to know what to do due to her rarity. The Dr’s favourite phrase was “wait and see”.
Our Biggest hurdle has been Georgia’s Uniqueness – there has never been any sort of Barometer to know what we are looking for, dealing with or should expect. And yes in many ways that is an amazingly wonderful gift – but when you have a three month old baby who is listed as Failure to Thrive, can’t breathe properly, has recurring infections, has hypotonia (http://en.wikipedia.org/wiki/Hypotonia) and all the Drs say is “wait and see” – – I tell you it is damn annoying and painful. Georgia got out of hospital 2 days before Christmas. This was our first Christmas with Georgia and without my Mum so it was a very hard time for us all. 5 months old – Back in hospital again, with Bronchiolitis, only a short stay but back there none the less. We also saw the Geneticist this visit and she explained a little bit about Chromosomes and how they all work. She also told us that we would not have any clearer answers for about 2 years as the test required was not yet available in Australia. So still walking blind we go home and continue on our way. About this age we also started going to Physical and Occupational Therapy. Georgia hated tummy time and was unable to hold her head up at all. Her sucking and feeding was good so now we had to work on her body to get her going. We had Physio and Occupational Therapy weekly. Both were through the Local Community Centre. Our therapists were amazing and helped so much. 7 Months old – Back again for Bronchiolitis, this time we got to go and buy a nebuliser to have at home so that we could give her ventolin and keep her healthy. 10 months old – So this was the worst time of all – Georgia got a bad flu and went downhill. We got her up from a nap one day and she was practically lifeless – she was so floppy and seemed to be bleeding from her mouth – but we think that was just from coughing with the flu – Ambos called – off to hospital we go. By 5am the next morning her oxygen was below 50% and her Carbon dioxide was about 80% – so the Dr took her up to the ICU and put her straight onto BiPap – this machine was breathing for her basically – it forces the air in and out of her lungs – she was on that for a few days none stop, then once she was starting to get better she was on CPAP- with some breaks through the day. She was in ICU for a week and then we went back to the ward, I had told our paediatrician and gp that Georgia snored since she was a baby and she had a very loud stridor (http://en.wikipedia.org/wiki/Stridor) when awake. She would squeak and make lots of odd noises when sleeping. Anyway so the Dr Now wanted to try and figure out why she got so sick and why her oxygen and carbon dioxide levels were so out of whack. They did a trolley study…like a mini sleep study…it didn’t tell them much. But after this visit they organised a sleep study to be done…. 13 Months old – The Sleep Study – So calling it a sleep study really is a lie because neither of us slept. It was a night where alarms went off like there was no tomorrow, Georgia woke up most of the night crying as she was stopping breathing. In the morning the Nurse told us that we would have to go to the Children’s hospital (we had the sleep study done at a private hospital so that it could be done ASAP). She was going to try and find us a specialist we could see that afternoon as our referring Dr was on leave. So we packed up from one hospital drove home slept for a few hours, then drove to the other side of the city to see this specialist, then to go home pack a bag and go to hospital. It was nerve wracking emotional day. So by that afternoon we were back at the Children’s Hospital trying to figure out how to fix this Severe Obstructive Sleep Apnoea. We started getting a machine organised and figuring out the right pressure, then the ENT and Respiratory Doctors could not agree on whether to operate and remove Georgia’s tonsil’s and adenoids or just the adenoids. At this stage I was about 20 weeks pregnant with Ethan so sleeping in a fold out couch was not a good place and I was exhausted. Finally they agreed to remove her adenoids, insert first set of grommets and also do another bronchoscopy to check if there were any new issues there. They also wanted to check how her Laryngomalacia was proceeding. So the operation was done; we had our CPAP Machine which we hired from the hospital and we went home. Georgia had an MRI: The main thing I wanted to ask about was her brain abnormalities. When Georgia was around 18 months old she had an MRI – to check for epileptic activity and abnormalities. At the time I don’t think I was in the mental state to be able to comprehend all that it meant. But knowing Georgia did not have a chance of having epilepsy I think I put it to the back of my mind. However I the last few months there have been changes in Georgia’s speech that made me re think what the MRI results could mean. Georgia could make the ‘F’ sound for a few weeks and now can’t. This prompted me to re check her MRI results. Well Google is great and all but it just can confuse you even more. Ok so here is the run down. Georgia has – Thinning of the Corpus Callosum, Thinning of the white matter, increased size of the ventricles and delayed Myelination. The Corpus Collosum is the “Bridge” between both sides of the brain – Some people can have NO corpus Callosum yet have no problems, the thinning of the Corpus callosum means that there are basically fewer cells there to be able to transport information between lobes.
Thinning of the White matter is similar to the corpus callosum, meaning there are fewer cells here to be able to transport information. These both play a big part in Georgia’s developmental delay .
Increase size of the Ventricles: Well there is less brain mass due to the reduced size of the Corpus Callosum and the White matter – so to fill the void so to speak there is extra fluid within the ventricles. It is a type of Hydrocephalies but not where the level of fluid increases and would require a brain shunt. It is a stable amount of fluid to take up the space left by the missing white matter
Delayed myelination: Myelin is a sheath that forms after birth around the nerves in the brain; these nerves carry messages from one cell to another. When we are born the Myelin starts to form, part of Georgia’s duplications and delay in development can be seen in the fact that the Myelination has been delayed. It does catch up over time, but the length of time would differ for each person.
So, all these abnormalities are indicative of Georgia’s delay in development. It might seem obvious or completely baffling, but I wanted to understand how her brain abnormalities were affecting her development and whether they were a degenerative problem or something that could improve over time. Luckily she does not have any degenerative conditions and the myelination will happen – but as proven so many times before – it happens in GEORGIA TIME.
The only other hospital stays we have had, are when Georgia has had sudden onset of Croup, or other virus’ where we could not keep her fluids in or she was having issues breathing. We have been very lucky in that Georgia does not have any major health issues. For the moment we seem to have leaped a lot of these hurdles. Who knows what is to come in the future but I think if we can survive those first 14 months we can survive what is to come. Different health issues Georgia has: Clinical issues:
“I saw Georgia for review in the Genetics Clinic on the 20th of October 2011, to which she was accompanied by her mother Patricia. Georgia has a rare chromosome abnormality, consisting of extra material on chromosome 5, initially shown by a chromosome analysis. Later chromosomal microarray testing clarified that this material included duplication of the segment 5pl3.1-5pl4.1, and an additional segment 5qll.l-5qll.2. This is a unique rare combination of duplications.” Extract from letter from Geneticist
Georgia has a Class III: Mesiocclusion (prognathism, negative overjet) this is when the lower front teeth are more prominent than the upper front teeth. In this case the patient very often has a large mandible or a short maxillary bone. She is now having trouble with her 6 year molars coming through and will be going back to the dentist this week. Her top jaw is too small and she does not have all her teeth as it is, so adding the molars makes for a very sore jaw. Most of our hospital dramas are over I think, but we will tackle whatever comes our way. Thanks for reading and I hope that reading this can in some way help you along your rare chromo journey. The true beauty in not knowing where our Journey will go is that we can truly treasure each milestone, each achievement and every laugh. Georgia has gone from being our little blob, to walking, talking (babble) running smiling, laughing and learning. She loves school, she has friends at school and she brings so much joy to all our lives.
Latest Piece of our puzzle
Georgia had a follow up Ear Nose and Throat appointment today. She had a hearing test a month ago which she failed again; I don’t think she has ever passed a hearing test. Anyway the ENT Dr has advised that another set of Grommets is not advisable for Georgia due to the simple fact they don’t work for her. Grommets http://en.wikipedia.org/wiki/Tympanostomy_tube generally remains in the eardrum for 6 months to 2 years, Georgia’s never seemed to make it past the 6 months. So now this means we move onto either having T-Tubes put in her ears or hearing aids. Another surgery to have T-Tubes would not be very good for her at all. Not only is it another operation but it would increase middle ear infections, she won’t be able to swim, and she would need re constructive surgery to her ear drum once they had fallen out. Due to her facial features, the Eustachian tube will never be the way it should be and there is bound to always be some amount of fluid build-up behind her middle ear. So the aim is to now focus on her hearing, the middle ear build-up will dissipate with time, but her hearing will always be an issue. So the Dr is sending a letter to Hearing Australia to assess what sort of hearing aid Georgia will need. Hopefully we will hear from them in about a month to get an appointment. The Dr gave me their number also though so I can be the “squeaky wheel” and get the ball rolling. The Dr Thinks she might be best fitted with Bond Conducting Hearing Aids but will have to wait to see what Hearing Australia advise. So Georgia has now got Glasses to help with her Astigmatism and is getting her hearing aids this week. I am hoping that she will be able to concentrate better in school with her glasses as she will be able to focus. And I am also hoping that the Hearing aids will assist with her speech development.