6th May 08 Journal Entry
I have a beautiful baby boy whom is now 5 months old now. This was the final addition to make my family complete along with my 6 year old son Theo. I noticed at about six weeks of age that Ruben,s eye,s were rolling around a lot and thought to myself it must have been wind! then freinds and family members were also noticing this too. At 8 weeks I took Ruben to the GP for the usual development check to be told there was no problems with his eyes and that he may just be being lazy! This carried on and at 12 weeks of age I was taking Theo to the GP and as he asked me how Ruben was I asked him to refer us to the childrens hospital as i expressed my concerns which were as previously described that Ruben was not vocusing with his eyes..We had an appointment come through within weeks and when the day arrived to be told our son would face visual difficulties to what extent was unkown, my life was suddenly turned upside down into turmoil and shock. We were told that more tests would need to be completed MRI scans and retcam images were needed to try identify what the problem was. We walked out of the hospital bewildered and a sense of feeling lost and alone. We were told that Ruben had a rare looking eye disorder and the plan was to carry out more tests and observations of the retina,s..
Ruben is now 22 weeks old and has had two MRI Scans along with retcam images. We are now waiting for the results. I feel so helpless and am desperate to find out as much informationn and the need to look into simillar cases to Ruben. I want to give him the support he needs, but also feel I need a little myself, feeling very confused and extremeley anxious at the moment.
7th May 08 Support Network
Already I am receiving emails from support groups. I have signed `upto a site called Daily Strengh,s and am networking with vI people also parents of VI children. Am onto writing a journal on Rubens development with the help of VI teacher...Im getting somewhere now!! Have spoken to family support manager at the NCBS and they have invited me and Ruben into their office for chat
12th May 08 Results
Today i recieved the results from the brain scan carried out on Ruben and thankfully all was normal with brain and optic tracks, i now know i can not worry and work on his vision if he has any...
Have referred Ruben to have assesment by VI teacher, l am feeling like I am doing something positive.
17th May 08 Roller Coaster
After recieving results from the MRI scan i thought I could just concentrate on Rubens vision.. but yesterday I recieved a letter to go for more tests, with the information I received Re tests I feel devastated that they are even going down this path . The worst senario is upon us, please pray for a positive outcome...
20th May 08 Relief
Today Ruben had appointment with opthalmologist and he was happy to dismiss or the speculation of the syndromes and deseases they were testing for as there had been an improvement in rubens eye movement,thankfully Rubens eye,s were stable and not roving around. He concluded that Ruben has retinal dystrophy/possible Lebers..time will only determine how much vision he may have...
21st May 08 GP
Today I went to the NCBS and met the family support manager, they made me feel so welcome and gave me some advise which is just what i am looking for. They made a real fuss of Ruben and even gave him a musical book which he really loves! immedietly after leaving the office I called and got an apponitment with my Doctors. I spoke to my GP and asked for a referal down to Moorfield eye hospital in London for 2nd opinion as i am still not sure what the diognosis is, hopefully this will be a positive move.. Continue to see Sue VI Teacher each week who observes ruben and offers support and advise to the family.
1st June 08 Journal Entry
Awaiting for appointment with specialists they have recieved referal so not long i hope..visiting nurserys to identify the right one for Ruben for when i have toreturn bk to work, dreading that!have support from visually impaired specialist and also NCBS whom have been fantastic.things looking a little better. Ruben growing fast and very happy little man..
20th June 08 Holiday
Today we are all off to Torquay for the weekend in a caravan, weather not looking too good but be nice break and also Ruben,s first Holiday!!
26th June 08 Support Group
Continue to attend vauxall gardens support group for VI people. Is good am getting to meet mothers whom are in simular situations to myself so have alot of understandings on how i am feeling. Have met some nice freinds.
Ruben had a really nice holiday and addapted really well to a new and unusual environment, ruben slept and realxed very well in the caravan.. Weather was not at all good but we managed to have fun and do lots of things to keep Ruben and Theo busy!!
3rd July 08 Strange Encounter!
Well the time has finally come and Ruben has his appointment tomorrow at Moorfields so hopefully we will have some answers and explanations, i hope!! Ruben is doing well still no signs of any usefull vision as yet but time will tell... What a strange day we have had today. I was chilling out playing with Ruben as the weather outside was awful, raining and thundering.When i suddenly hearda knock at the door. I decided to ignore it as i was still in my PJ,s! It knocked once again and i decided i best see who it was. When i opened the door there was a lady satnding there soaking wet looking very worried holding onto a guide dog. She excused herself and asked if she could take shelter in the out house with her puppy as she went on to tell me that the puppy named Grantwas frightened and would not walk on in the weather. I was so freaked out that it was my door she had knocked, i found myself standing staring at her. As she apologised and walked down the path i asked if she was blind, she replied "no" i am a puppy walker for the guide dogs association and went on to tell me that she had not long got the pup so was unsure of the temperment. I asked her to come on in but still freaked out she asked if i was ok. I went on to tell her that i was due to attend Moorfields with Ruben and that he may be blind,hence why i was so freaked out. She totally understoood and apologised once more.I felt that this had happened for a reason and knew in my heart that Ruben was Blind . This lady was named Hazel she stayed and talked to me for a while and was a very nice person, i do hope to stay in touch and told her to pop in any time she passes for a cuppa. What a great job she does and is all voluntary to help the life of a blind person.This day has been very emotional for me..
8th July - Friendly visit from Hazel and her guide dog
How loveley i had a card and a box of chocolates from Hazel thanking me for the shelter and apologising again for freaking me out!! I have made a freind in Hazel she is very caring and thoughtfull.
12th July 08 Daniel Kish
Whilst surfing the net i have came acrosss a support group called common sense, seemed interesting and even more interesting was that they were having Daniel Kish coming to do a seminar at there local community center on echo location, which is something that has been of interest to myself and Rob.
We travelled upto Dorset and stayed in a B&B for the night, we met the families of the group common sense and attended the seminar which was very interesting. Daniel Kish was a breath of fresh air to watch the way he gets around. He was amazing and had alot to say about blindness. After listening to his speech we feel that maybe in the near future the echo location is something that we would offer to Ruben should he be interested in learning how to use his flash sonar senses. Daniel Kish took time to talk with myself and Rob and told us to encourage ruben to be as independent as possible and to not wrap him in cotton wool due to his blindness, long term this would not do him any favours. He also advised that Ruben should use a cane as soon as he is mobile and understanding more.
We met a lovely family with a little boy Harley whom had Lebers and found ourselves having a really good chat and they were kind enough to invite us to follow there son and Daniel Kish on a day in the park . This was really interesting to watch as Harley had never used a cane and was dependent on his parents. After a few hrs of tears, bumps, and frustration it was great to see that Harley was holding the cane and making some sense of the whole concept of using it. Both myself and Rob was feeling so much better after meeting this family they realy did inspire us and Harley was such a beautifull little boy and was very bright that we did,nt feel so negative about this condition LCA.
We exchanged numbers and hope to stay in touch with this family. 1st August 08 Nursery provision
Sue the Vi Teacher has refered Ruben to a local Nursery and i went to look around and was pleasently surprised to bump into a few freind whom i knew very well and trusted so that made me feel so much better about returning back to work so long as i could get him in. We went on a trip today to Blackpool with the Nursery this was a way of introducing us to the staff and other families. This was a great day and the staff seem really nice.
20thAug 08 Time To Move On
Since my last entry we have attended moorfields twice under the care of professor moore. The first appointment was brief and professor moore was more than sure Ruben had Lebers Congenital Amourosis, however was not able to confirm untill he had carried out the ERG tests. Whilst we were at this appointment we all had to have DNA samples taken to investigate the causes and determine the defective gene. We met a collegue of prof moore whom was focusing on Lebers and the defective genes that causes this condition. We discussed posibile Gene Therapy and left feeling quite positive..
We attended moorfields yet again for the ERG tests and spent the whole day in and out of several rooms having various tests carried out, which at the time looking back seemed all positive.
However the last appointment was with prof moore to discuss the results from the ERG tests this is when all our hopes and dreams were shattered. We were told that there was no response to the ERG tests and that at the most Ruben may have some light perception. At this point we were not shocked but confused with the negative kind of response we were recieving. Then i asked the question would Ruben be able to have Gene Therapy the answer was short and sweet "No". We were told that Ruben did not have enough live photoreceptors alive to consider him to be a suitable candidate for this breaking treatment. Professor Moore said that Ruben may be able to have stem cell replacement however this was still in the early days of research and was a long way off, but to be optimistic!
We were told that we need to get on with our lives and bring Ruben up as a blind child.
We can now stop hoping and except that this is how our lives will be and to be happy and positive for Rubens future..
27th August play and Stay Ruben @ Nursery
Ruben went his nursery today and i stayed with him it seems a very nicessafe and warmenvironment for a child to be in and the staff seem very keen to work with Ruben. There is alot of usefull sensory equipment in there which will be of use to boo boo! Feeling so much happier about the whole nursery thing...
5th September 08 settling period
Ruben is going through the settling in period at nursrey and seems to be settling quite well, still trying to get one to one for Ruben.
11th Sep 08 Stem Cell Treatment
Since my last visit to moorfields hospital i have been researching into Stem Cell Treatment and am hoping to discuss this further with the Doctors whom are at the forefront with this treatment. I have read lots of positive stories about children gaining sight and improving there vision, it is so exciting. However i have not yet heard of any children with Ruben,s condition to have received this treatment as yet, so i am just taking one step at a time and remaining optomistic!
I am waiting to here from Kishner whom is a lady that i met via Daily Stengh,s support group whom was at the forefront of stem cell treatment. A nurse from chicago whom had researched stem cell treatmnet for children with ONH.
22nd Sep 08 Confused
I have been so busy trying to research stem cell treatment and have read many positive stories with sucess in children in different parts of the states. I have not yet came across anyone whom has had this treatment with LCA however have been led to believe that Ruben would be able to have this treatment . I have also been told that it would not work, i am so confused and feel so frustrated, i wish i could just understand how this treatment can work for some and not for others, i need to continue to research as much as i can untill i feel like i have done all i can for my beautifull son...
6th October 08 Start Date
Ruben starts at nursery today without me around, seems to have had a good day was hard leaving him this morning for the first time..
13th October 08 Back to Work
I returned back to work today and it was almost like Ruben knew i was leaving him and not coming back! he had a really bad day and staff was unable to settle him, need to give it time but feel so guilty leaving him this way.. Rob feels it may be best that he takes Ruben to nursery for few weeks to enable me to settle back into work mode and not feel upset leaving Ruben.
16th october 08 Childrens Hospital
Ruben had appointment today with consultant, had general check over still no sighns of any light perception but have requested that the ERG tests to be carried out when Ruben is about 2 yrs old. The consultant was happy with Ruben,s overall development and advised us to hold back on any treatments that have been offered to us overseas as he feels it is too early days and more research is needed into LCA and stem cell treatment as Kirshner had also advised previously.
3rd November 08 Clingy!
Ruben has been so clingy with me of lately it is quite common in children at his age and also the fact that Ruben has been staying in nursery without me it is obvious that he is insecure at the moment. Ruben does not want to go to any one anymore just wants me all the time. Even when we are sat on the floor he is constantly feeling for me to make sure i am there, bless him it is quite sweet. Can be abit much at times as dont seem to have any time for myself!! things will improve i am sure..had a visit today from Sue Vi Teacher. As soon as Sue walked into the room and Ruben heard her voice he started to cry!! He tends to be better when i am not around he settles better,however if he knows i am in the room he just cries and reaches out towards my sound. Sue tried her best to interact with Ruben whilst he was hanging aroung my neck!! she managed to attract his attention with some of her toys she had brought with her. We spoke today about the different types of Schools available to Ruben, this is something that we need to think about and start looking into. Thankfully Sue has agreed to start the statement process which is a positive start, just seems that we are allways thinking so far ahead.
9th November NCBS Holiday.
We have just returned from a break away with the NCBS. We went from friday untill sunday to Teighnmouth in devon What a great weekend. We all met some wonderfull people and what a gorgeous place we stayed.The Hotelwas funded originally by the guide dog association but is now run by Action for the blind.This hotel is a great place for vi people as it has adaptations and a run for the dogs also has a fabulous garden that leads you almost onto the beach front! Ruben was so relaxed and slept very well, he was really happy and settled. They had even prepared him a cot on arrival.. It was good for all including Theo as we met many families whom had pretty much gone through simular experiences. Theo met some lovely friends some ofof which was VI and i think it was good for him to be able to see just how much they can do regardless of their VI. Theo loved the guide dogs and helped take them for walks ! will definetely go back there ione day, hope to catch up with our freinds we met on the next break away with the NCBS.
10th November Ruben finally crawls!
Well the time has come we never thought ruben would crawl but he has just gone for it!! it is wonderfull to see him go and with such confidence! just wants to explore everywhere now..Today he even ventured out of the living room however knew imedietly he was in unfamilar surroundings once he reached the hallway!! but this is real progress as he has just wanted to be on his feet all the time, bouncing away!! this is so good for him as he has his own independence now and does not have to wait and get so frustrated and upset, hopefully. Ruben does not have to wait for someone to walk him around he can go and explore for himself, this is a very special moment for us all, just have to bear in mind that he may tend to bump into lot,s now but will have to keep him safe as much as possible and hopefullyteach himto reach out, this is what we need to work on next. God love him he is so determined..
22nd November 08- Happy 1st Birthday Ruben
What a year it has been for Ruben! what with hospitals,tests and more tests and finally he approaches his 1st Birthday without a care in the world, god bless him. I can honestly say i am so proud of how Ruben is developing, he is just so happy and such a determined little character whois just so cute! He is beginning to show whta a cheeky little character he really is. He is now cruising around the furniture and saying a few more words,his current vocbulary is Dada,Get down, which he has heard me many a times shouting to Theo as he just loves to climb!! he is nearly saying Moma and Nan and uses Dad for Grandad. He continues to crawl however needs promting if not in own environment. Has not ventured out the lounge , however now he is cruising he is able to explore the lounge from different angles and is clearly mapping out the room. Well today we decided to have a little Birthday party for Ruben where some of the family visited, and freinds also, even Rubens first Girlfriend Lyla whom he first met when born at the hospital!. Theo and I decorated the lounge with banners and balloons and bought the biggest cake which Ruben loved! We managed to buy musical Birthday cards which was great for ruben he clearly loved them. Rubens Nan and Grandad Graham turned up with a bouncing Zebra, this is a zebra on a base that you straggle and hold onto and basically you spin and bounce and Ruben is in his element onit. He took to it like a fish to water. He had lot,s of musical instruments, walker which he also loves. Auntie Selina bought him a rockinghorse that sings,he had a Trampoline of his Nanny Cath and Mark built him a beautifull personalised wooden walker which was a really nice present. Ruben had a wonderfull birthday overall although he does not understand it was his Birthday he knew by the people around him that it was a special day.That evening it was Annettes 40th Birthday so we all went to her party at a local comunity hall and Ruben loved the whole atmoshere, perfect end to his Birthday!