Living with the unknown ?

I have always had lots of friends in my life and never really felt isolated or lonely, until I had my son Archie on 14th of January 2007. I knew there was something not right I had that feeling but you put your trust in the professionals.

Archie wasn’t a straight forward baby and came with his little problems but I loved him so so much. Time passed and we knew he had special needs and so did everyone else by now, he started special school in September 2009 at the age 2.5 years, and its here I met lots of other mum’s and dads with disabled children, as much as these became a big part of my life and understood what I was going through and some are really true friends now they had answers for their children, well most of them did and I never felt that I didn’t belong to the group however the feeling of not having answers to Archie’s difficulties or reasons for certain behaviours made me feel different.

I found SWAN UK through someone else on face book in summer 2011 and since then I have really made friends where I do belong we all understand the feeling of the unknown and the feeling of more test been negative.

We face together all the uncertainties and find info out we might never of known about, we share our journeys through our blogs ,we talk, cry, laugh,feel each others pain and help each other through the toughest times. Some of our friendships are so strong even though we have never met we know when there is just something not right with one another and we no to check into the group to find out. Some of us swan mums have met up or talked about meeting.

SWAN UK means everything to me a lifeline away from the doctors/consultants/hospitals/specialists. We no longer feel isolated,we belong to a group who just ‘gets’ what we are about and what we are going through – no one else seems to. I love the fact that we can share the highs and lows of all our journeys, and we don’t have to explain for the millionth time what issues our SWANS have, so SWAN UK means the world to me ( belonging, understanding, sharing happy and sad times – Building friendships and no longer feeling alone). Help spread the awareness of undiagnoised day this saturday by supporting swan uk. Wear pink or blue take a photo and post to facebook or twitter and join in the fun. Here is a little back ground of some of the tests we have been through.

The tests are the hardest things to deal with, they leave you in fear of what may come back, that you just might not cope with the outcome, the sick feeling you get while you wait the lengthy time for results to come in, praying they find something wrong so they can start treatment, or not find anything, but then the blow comes back they are normal, NORMAL? what is that and whats next? not even a little something ,no abnormality to go with. we started with the first basic test

bloods = normal

then a more in-depth blood test = normal

we were told the tests were for metabolic disorders and then left to go home, test again came back normal? this was very upsetting for us as a family. My son was like a pin cushion backwards and forwards for more test.

CAT scan nothing = normal yet again, onto have a MRI nothing, i excepted that would be the case and was getting used to hearing that word NORMAL , it was obvious my son was “not normal” he wasn’t meeting any of his milestone so wasn’t developing, he had feeding difficulties , his head circumference was growing at alarming rate, and he started treatment for his club foot.

We were refered to genetics to start test with them. First test was more blood, poor child he didn’t give blood very well it clotted very quickly so was very dramatic for all of us. while waiting for result of this test, I had been on the internet searching for answers, looking for a syndrome my child may fit into. I came across Sotos syndrome a overgrowth syndrome, I asked the consultant if we could have a bone age scan as this syndrome you needed to have an advance bone age, This came back as delayed , What does this mean, I was told its has no significance really so yet again NORMAL?. I later found out when I asked if I could see and read the report that my child at 2 years 2 months, that some of his bones were advanced by 6 months and others were very severely delayed, but over all there was a severe discrepancy of his birth age and bone age so over all the configuration of the hand and absence of ossification of the thumb was in keeping of a new-born child , WHAT?

Ok appointment came through a few months after the scan , to see the genetics consultant we had to go through everything again, The pregnancy what it was like, the birth, the first few months and then the 2 years with all the test etc. Eventually the first line of investigation started with some of his chromosome’s to be tested ( karyotype 46xy) = normal. so samples passed on to have another test (karyotype mlpa (po70)x2 this is to see if there is any deletion or duplication of any of the sub-telomeric regions of all 46 chromosomes = normal. We had photos of Archie taken so DRs could look at them and try to see if there where any facial features or body features that could point them in a direction to test next, we went on to have his PTEN gene tested and it was suggested that he also have a full skeletal survey which may give more clues as to whether it could be a storage disorder, 2 conditions in mind where Alexander disease and glutaric acid urea, these tests could take months and months as there was waiting lists. In the mean time we saw an ophthalmologist as he didn’t seem to respond to anything so thought he was blind,

Eventually i had a phone call a year later from genetics to say his PTEN gene had come back with a normal results this meant he didn’t have (Bannanyan Riley Ruvalcalba) syndrome. We still hadn’t had result for the skeletal survey yet for the other disorders I spoke of earlier.

His name then went on to the list for CGH(comparative genomic hybridisation) test but there is a very long waiting list and funding isn’t always available. Also a sample of DNA was sent of to Newcastle to test for Fragile x syndrome, this also had come back negative so told again its NORMAL ?. Other test reports came through that had been done alongside all of the others one in particular (karyotype) mlpa (p245,GATA4, TNKS PPIL2,SMARCB1)x2, This test checks for microdeletions/microduplications and this too was a normal result.

i had began to give up and just concentrated on making sure he had all the help and support he needed to develop skills, even though we had no answers we knew all the medical terms for his little difficulties that when put together became very complex issues and global development delay and learning difficulties.

Large head (macrocephaly)
Club foot
Constipation
Floppy ( hypotonia)
Feeding difficulties
Small hands
Small feet
Re accruing chest infections
Bronchiolities
Abdominal pains
Failure to thrive
Delayed bone age, at 2 years old his bones were that of a newborn
High arched roof of mouth
teeth grinder
Milk,gluten,wheat intolerance’s (out grown by 4)
short statue (but now growing)
sleeping difficulties
possible myoclonic jerks (epilepsy)
random out of context laughing (gelastic epilepsy)
stable alterative esotropia (squint)

Eventually he went on to have a EEG that also was normal no surprise there then, Test slowed down and we were just monitored and seen every 3 months, In december 2011 we got the results of the CGH test and yes you guessed correctly NORMAL?. On the letter it said “so in the mean time please keep me informed of any changes with his development and I have now passed you onto the DDD study (Deciphering Developmental Disorders) I have sent you more information on this thank you”.

I was so fed up of all the normal results when it was very clear my son was not developing like a nuero typical child (normal child) see i had even learnt the terms of normal and non-normal ( non-nuero typical). so I requested that we got a new peadeiatric consultant , fresh pair of eyes, we went over everything again and how he is now, and decided to repeat bloods due to excessive eating & drinking, also a sleep deprived EEG, test came back ok with bloods but the EEG was ABNORMAL another blog post , https://swanarchie07.wordpress.com/2012/07/17/normal-all-this-time-then-a-abnormal-11/ so he is now been treated for Epilepsy, We are now at the stage of just waiting to see the out comes of the DDD study and who knows what the future holds, one thing for sure is I found SWAN UK http://www.geneticalliance.org.uk/projects/swan.htm and now I don’t feel alone anymore. You can follow me on my blog @ https://swanarchie07.wordpress.com/

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