Patients’ Stories

My daughter Aisling was born by Caesarian Section at 37and a half weeks.  She weighed 5lb 10ozs and my husband and I thought she was the most beautiful baby we had ever seen.  She was very blue and had to be put into an oxygen tent but she recovered quickly and all was well.

I remember one midwife who used to be very particular about anybody else other than my husband or I handling her because in her opinion Aisling was a very delicate baby.

Aisling never slept well, she was feeding every three hours and when she did feed she would bring it back up again.  At the time I was very worried but I put it to the back of my mind because I thought it was just a case of getting used to feeding her and being a mother.

At her check-up at the baby clinic Aisling was found to have a ‘clickety’ hip and was referred onto an Orthopedic Consultant.  It transpired that she had dislocated hips and was admitted to Altnagelvin Hospital to be put in traction.  She was, at five weeks old, the youngest baby on the ward.  Her legs were strapped up to a bar above her and the only part of her on the bed was her head and shoulders.  We were very distressed to see Aisling like this but our spirits were high because we felt that this would help her.

Whilst in hospital, Aislings condition deteriorated, she was very unsettled and would not feed.  I was  very anxious about this and voiced my concerns,  but I was told not to worry she was just ‘possetting’ and that because of the angle she was lying at it would be difficult for her to feed.  This reassured me somewhat, but Aislings condition got worse to the extent that she started to have a fit and a rash quickly appeared all over her body.  All at once there was pandemonium, she was surrounded by medical staff and whisked of to the Intensive Care Special Baby Unit . My husband stayed with her while she got a lumbar puncture done.  Aisling had got Septicaemia.  We found out later that Aisling had ‘kidney reflux’, so she probably had constant kidney infections from birth.

Eventually we got her home, she was to take antibiotics daily to prevent kidney infections.  She continued to take antibiotics over the next 7 years and although she had two ‘sting’ operations to try and rectify the problem she continued to get urinary tract infections.

When Aisling was 3 months old she was put into boots and a bar to correct her dislocated hips.  This is a period of our lives I shall never forget.  My husband and I took it in turns to look after her, she cried almost non-stop for 3 days until she got used to it she actually lost her voice she cried so hard.  It was heart breaking to watch but we knew that if we were to help her we could not take them off.

It was slowly dawning on us that all was not well.  We were running to and from hospital attending orthopaedic, renal and paediatric clinics.

We were referred to the Genetic Clinic, which turned out to be a very traumatic experience.  We were asked all sorts of questions about family medical histories and our own medical histories.  Aisling was examined and had blood taken, she was then photographed from lots of different angles.  I found this all very difficult but I was devastated by the Genetic Consultants cold analysis of Aislings features.  I was told ‘her eyes were too far apart, her neck too short, there was a small bump at the top of her back, her nose was too flat, the muscle tone of her hands very poor, her skin beneath her jawbone sagged and her abdomen was protruding’.  The Geneticist said she would look into what all these things would point to but at the time I was so hurt by her analysis of Aisling that I refused to go back to the Genetic Clinic although I changed my mind some years later.

Aisling got out of her boots and bar and by 2 and half years old she was walking, she was very clumsy and tended to fall quite a bit.  When she started Nursery, the teacher pointed out that she had difficulty with her fine co-ordination skills.  In Primary school she was put forward for assessment by an educational psychologist and was found to have moderate learning difficulties.  She was not able to cope at mainstream school and we made the difficult decision of sending her to a ‘Special School’.  Aisling was and still is very happy at her school, she is very confident and self assured when socialising within a safe and loving environment, but I feel that the education system has let her and children like her down because they are isolated from other so called ‘normal’ children who have no learning difficulties.  I think it would be much better to try to educate our children who have special needs within a mainstream system, whilst at the same time accomodating their special needs.

My family very gently advised that perhaps we should return to the Genetic Clinic and although I was fearful about returning I felt I didn’t want any more ‘surprises’ and would rather know what to expect with regard to the future.  The Geneticist welcomed us back and I found that we were treated more gently second time around.  After some more tests and photographs the Genetic Consultant said that she thought Aisling had a rare disorder known as Cutis Laxa Type 11.  We were told that we were very lucky that Aisling had a mild form of it, but we didn’t feel at all lucky at the time.    The Genetic Consultant gave us a few photocopied pages which I assume came out of a medical book, outlining the medical history of three children who had Cutis Laxa, but there was no long term diagnosis because we were told that they  had not got enough information on the condition to provide us with a long term diagnosis.

All along we have been struggling to try to get Aisling the help we need but unfortunately there is no support group and as far as we are aware there is nobody else in Ireland who has been diagnosed as having this condition.  As Aisling gets older she is becoming more aware of her limitations and is starting to ask questions as to why she is like this and why she cannot do things that her brother and sister can do.  Last year we rang the Genetic Clinic because we had no one else to talk to and told them how isolated we felt and could they do anything for us.  Aislings Genetic Consultant very kindly told us about an organisation called ‘Contact a Family’ and they have proved to be a friend indeed.  To this day I shall be forever grateful to Nuala who listened to me crying down the phone and who understood implicitly how I felt because she herself had a child with a rare disorder.  They helped put us in touch with a family in France who have a young girl with Cutis Laxa and we have become firm friends helping each other through our tears as well as laughter.

Later on we were told that Aisling would have been entitled to benefits and help with getting around but no one ever told us.  Someone said that we didn’t move in the ‘correct circles’ to find out about what our child is entitled to.  I find it very upsetting that my daughter for years lost out on benefits solely because nobody thought to tell us, benefits that she was entitled to and which would have helped us greatly financially.  I had to take a career break at one point to look after Aisling because I could not cope with going to work and getting her settled into her Special School, during this time I would have been entitled to attendance allowance but because I was unaware of this I never applied for it.

I think the biggest problem all along was that Aislings problems were all treated by different people and there was no gathering together of information to look at the whole picture.  She had an orthopaedic consultant for her hips, a renal consultant for her kidneys and a paediatric consultant for her overall health.  She had an occupational therapist and a physiotherapist, a community nurse (recently for toileting problems) and a consultant dealing in learning difficulties and an educational psychologist – I could add more to this list but I fear I would bore you!!  Never at any time did these people exchange information or were even aware that she was attending other consultants, even when I informed them that she was attending other medical professionals there was no interest in exchanging information in order to help her.  With such a fragmented approach it is really no surprise that she did not get diagnosed until she was almost nine years old.

Throughout all of this I have to say that Aislings GP was very supportive of us and did everything he could to help Aisling with the result that she has built up a warm relationship with him.  Nevertheless I do feel that other medical professionals were not interested in the whole picture just in their little bit of the jigsaw.  It was not until after Aisling was diagnosed that I realised through my own investigations that she should have had a social worker to oversee her case, as it was we were left isolated at a time when we needed help most.

In ending I have to say that our daughter is a very happy and outgoing child, she gives us so much joy and we love her with all our hearts.  Often when the parents of a child with a rare disorder are given the diagnosis they find they have no-one to turn to get the help that is needed.  This can be very frustrating and soul destroying.

I have great faith in the knowledge that my family and I will help Aisling in every way we can – after all it is just what she deserves.

Jacqueline Anne Cowan (Jacquie) was welcomed into this world by her Mum, Dad and big brother Elliot on the 20^th August 1978 after a normal pregnancy and birth. Her weight was 3 ½ kgs (8lbs.9ozs). Her breathing at birth was very rapid and the Doctor called a paediatrician who stabilised her very quickly. At the time we were advised that she could have swallowed some amniotic fluid and that contributed to her breathing difficulties. Jacquie was placed in a humidicrib and remained there for about two days. Looking back at that time, I realise the nursing staff and the paediatrician suspected that something wasn’t quite right but had no idea what it was. After being taken out of the humidicrib her breathing was still rapid but okay, she could not breath through her nose hardly at all, the nasal passages were very narrow. I was not able to breast feed her for this reason although we did try. Jacquie had slightly wrinkled eyelids and her left eyelid was dropping but other than that she seemed okay.

In the three months after leaving the hospital, Jacquie did not gain any weight at all. All kinds of different milk formula were tried including soy but nothing seemed to make any difference, she was still feeding every three or four hours, she didn’t seem to have the energy for more at one time, she definitely not thriving. We were referred back to the paediatrician who decided that further tests were required in order to find out what the problem was. We spent two weeks in the Royal Childrens’  Hospital in Melbourne and a Genetics Professor (David Danks) did a skin test and finally diagnosed Cutis Laxa. He told us he had only ever seen one other patient with this and it was a wait and see situation, he did feel however that she would be okay, when we asked if there would be any effect on her brain the answer was no. It was explained to us briefly how Cutis Laxa affected her breathing and other parts of her body. Our experience in the hospital was a very mixed bag. I spent most of the time there with her and I would have to say that the bedside manner of many of the doctors (experienced and otherwise) left a great deal to be desired and it was only when I stood up and made very loud noises about their attitude to Jacquie and myself that I received the attention I felt was needed. It set the pattern for all my future dealings with doctors. I did not ask any more, I demanded to be told what was going on and refused to be patronised or placated. It had surprising results, I know very few of you will be surprised that many in the medical profession did not like being questioned and even more disliked having to give answers. Harvey and I gave great respect to those doctors who actually admitted they really had no answers but would try.

So now we had a name for Jacquie’s condition but that was pretty much all. We gave permission for the genetics clinic to photograph her at various stages in her development along with medical details but when we wanted to be in contact with other parents the answer  was no because there were so few, comparing notes would not be a good idea.

Jacquie’s progress over the next three years was very slow, she was very bright and alert, her breathing improved but her muscle tone was still low. She finally was able to sit alone at eighteen months and slowly but surely she began to put on weight. Overall her health was quite good, she seemed to prone the head colds but nothing serious. Her drooped eyelid was repaired when she was four, it was a minor operation with no problems whatsoever. She walked at three and a half years and we returned to see Professor Danks when she was approximately four years old and he told us he was very pleased with her progress and that she would probably catch up quite well to her peers by the time she was seven. At this time she started part time kindergarten and although she was pretty tired she coped very well, the following year she went again full time. We again returned to see Professor Danks when she was six and it was then he told us that in fact she would never catch up and was intellectually disabled and he felt this was part of her condition. We were very angry with him and asked why he had told us she would catch up by seven years and his answer was, at the time they didn’t know if she would even survive and we had enough to cop with without worry about permanent disability. Needless to say we were absolutely devastated, what to do, how to cope. Like everyone else in our position we were scared stiff. Would it have made any difference if we would have know from the beginning, we think yes because our expectations would have been different. We took her home and just carried on doing the best we could. Jacquie went to a special school for a while, the entered an integration program at our local primary school, she was there for five years and did very well. She could read very well, her writing was not as good but she was very outgoing and did very well. When it came to high school we realised that it would be too much for her, apart from learning difficulties the gap between her and her peers began to widen. Physically puberty arrived at 13 just about right I think but emotionally she was still much younger.

I have said many times that Jacquie’s intellectual disability has caused her and ourselves much more heartbreak than the Cutis Laxa itself.

At fourteen Jacquie developed Epilepsy, she had one Grande Mal seizure and two Petite Mal, she was put on medication and has had no reoccurrence of the seizures.

She is now 25 and lives independently with two young people like herself with two carers and is doing very well. She travels on the tram and train to her day centre which she enjoys very much. She still enjoys quite good health, how much effect her loose joints and ligaments etc have on her in the future is very much a wait and see situation. Many things have been extremely difficult for her and will continue to be. Coming face to face with her disability was so hard. Jacquie has no communication problems at all and is able to relate very well to all people. Without the company of her loving family and young people like herself she would have been very lonely. Learnind to live with the fact that she will never be more than 145 cm (4’9”) that she looks different and that people stare has never been easy for her or ourselves but like everything else we learn to live with it but that doesn’t mean to say that we have to like it !!!

Been able to connect with Cutis Laxa Internationale has been wonderful, its hard to think we went for all those years and never once met another person with Cutis Laxa. I have been delighted to hear from you via the email and encourage all those of you who would like to. Sincer appreciation to the Boiteux Family for the wonderful effort in getting us together.

December 2003

Even as a very little girl I had the feeling I was not like the other children.. My first school year confirmed it. From then troubles started, questions raised, and feeling of injustice appeared. My mother is also suffering from Cutis Laxa. Our discussions about this issue were very difficult. She didn’t know anything about the disorder, she was undiagnosed, but she didn’t want to hear about it anymore. We just had to live with it.

Anyway, she took me to many doctors and consultants. Each time we had the same answer :

We don’t know anything about this disorder. Some of them guided us to dermatologists , but the answer was still the same. The only words of comfort we received were, and I quote : “ Each one of us has his cross to bear, some have a big nose, and you have wrinkles,…….” !!!

The hardest thing to live with when you suffer from this disorder is the others’ gaze, the children’s mockeries, even the adults’ ones…….. and the fact that you cannot live a normal childhood, and then youth. You are automatically and involuntarily thrown into the adults’ world. You miss one of the steps of your life….. the one which, normally, is the most beautiful, the one where you can be thoughtless, where you can meet others.

When I was a child, I was called oldie, grandma, witch, etc. Later on, as I grew up, it became more subtle, but as hurting as before. When suffering from Cutis Laxa you must always justify yourself, at school, at work, everywhere you have to answer the question : How old are you? Each time you must show your identity card to be trusted.

I don’t know if other people realise how much they hurt with their questions, and most of all their insistent amazement. How hard it is to justify oneself without the name of the disorder, knowing mostly nothing about it.

Finally, one day of 2001, I saw Cecile on my TV screen, during the Telethon. I cannot explain what my feelings were at that moment. I had thought my mother and I were the only ones in the world suffering from this unnamed disease !! and there on the screen it was just as if I was appearing myself, as a little girl. I knew, at once, it was the same disorder. I got in touch with the AFM and they gave me the name and address of the Boiteux Family. Thus, I finally was diagnosed by Pr Stalder in Nantes (France).

Today I know my disorder. I am still learning how to live with it, with ups and downs, and with my worst enemy : the mirror.

Besides all this, I just live like anyone else. It doesn’t stop me from beaming, having friends and a beloved husband who helps me a lot in accepting my disorder.

Now another question occurs. Having children when we know there is a 50% risk for having  a suffering child. Can we take the risk to inflict this disease ? Is life worth living anyway ?

16 May 2006

“What a wonderful week-end…

Being able to see each other, at last, differently than on photos, and most of all, to share our experiences, our lives with a great understanding and a lot of emotion.

Learning, thanks to the speakers, about our disorder, about the progress of the research and concretely understand that we are not forgotten, that research is progressing. Learning how important it is that everyone gets involved , health professionals and sufferers. I also learned that we must respect and be tolerant of every person’s choice and thought patterns.

During this week-end, I felt particularly relaxed, good about myself, because I knew  I was with people aware of my disorder. I did not have to justify my age, my difference and that is truly valuable. That is why it is important to get rare disorders known, to help us live more easily because I think that it is through information that we will change other people’s  gaze and clumsiness.

This week-end will have done me so much good, emotionally  ; I go back home “boosted”, more self-assured, and also more motivated to invest myself.

After such a week-end, goodbyes are, there again, full of emotion. We think about all that we have lived alone, then we think about our first meeting which put an end to isolation. Leaving also means saying  goodbye to very close friends and this goes beyond mere words as the  link between us, these genes, in a way, imply that we all are members of the same family..

This is why Cutis Laxa Internationale must go on, together…for us, but also for all those who will need us. May they have the chance, like us, to find a family.”

Paris 10th May 2008

Each time we meet again, each time we meet new families, is always full of great emotion. We look at each other, we hug each other, we do not need words to understand the great intensity of feelings.

The Information Day was very interesting. The speakers were very friendly, clear and human. I appreciated a lot when Dr Bodemer spoke about the need for the patient and his/her family to have psychological care.

I was pleased to hear that for some sufferers psychological care is necessary, whatever the severity of the the disorder is. As far as I am concerned, I often heard :  « There is worse than you, you can live with it, it is not vital and you do not have that much » ; no, I just look 20 years older than I am, but in this Society where everything is based on appearance and youth…..easy to say……. I’d like to see these girls/women who cry at the first spot on their nose or the first little wrinckle appearing (sorry, I needed to let off steam). Of course there are cases more difficult than others, I agree, but there are no degrees for insults and mockeries.

To my opinion, feelings and moral pain, especially when you are a child, are the same.

In short, my disorder has always been trivialized, minimized and my uneasiness rarely heard and understood. That is why I cried a lot when hearing Dr Bodemer speech. I felt as if she was saying all I “swallowed” for years : « You have the right to be suffering, it is not nothing, you have the right to be heard and helped ».

Nathalie’ speech, very harrowing, weel said, always with a tinge of humour.

What a life….. What a strength too. There also a lot of emotion….

I liked it so much when she said : “I will not walk with a placard telling my age, who I am, what I am suffering from ». However that is what we would be willing to do. As for me, I often thought about doing it. We would want to say  : I am young too, I am like you. In fact it is like if we were shut inside someone else and we would love to be seen just like who we are and not like the image given by the mirror.

Ethics issues were very hard and making the choice to have children or not……… Of course it refers to our stories………..

That is why our voices need to be heard, that is how we will change others’ gaze. As I often say, there is more tactlessness than nastiness ; people are nasty when they do not know.

So once again thank you Marie-Claude and all the others for the energy you spend for the support group. Thank you for helping us out of isolation, to allow us to meet each other. It is thanks to your dedication that research improves and that we can keep hoping for us and for our children.

“Simon’s little story…from Canada

In March 2004, I learned that my 2 year old son was suffering from Cutis Laxa syndrome . Being given no details with the diagnosis, I searched ther Internet, which lead me to the link to the association for Cutis Laxa. The website gave me a lot of information on the disorder. Then, as I felt isolated and sad, I sent an email to Mrs Boiteux. Even if she was miles away from me, she answered my questions, made me feel secure and helped me accept my son’s disorder..

In October 2005, after several months of sharing by emails, , Mr and Mrs Boiteux, invited us, my son and I, to come and take part in the Annual General Meeting of the association Cutis Laxa Internationale  in La Rochelle in May 2006.  At last, this invitation allowed us to meet people living with a situation similar to ours.

After travelling 24 hours and a 6 hour jet lag, we finally arrived,  Simon, his father and I, happy to be able to live this wonderful experience of seeing France, meeting people suffering from Cutis Laxa and their family and taking part in the meeting.

From point of view, all the people concerned with the disorder should commit themselves to breaking the isolation, making sufferers’ life easier and helping in the progress of the genetic research . In this way. the meeting also allowed us to know the researchers’ work. Moreover, we were reminded of the importance of donating blood samples, since a line of inquiry is being explored.

We are now on our way back. Our minds are full of memories and our hearts full of new friends. I wish to thank Marie-Claude, Jean-Louis and Cécile Boiteux for welcoming us as like members of their family. Thousands of thanks for making this emotive adventure possible. Simon, at last, could recognise himself in other people’s face. We are looking forward to meeting you all again soon..”

Josée and Simon… from Canada, 20^th  May 2006

Email on 17^th May 2008

Hi everyone, attached are some of our souvenirs of the meeting. We had a tremendous joy to see you again and a great sorrow to leave you. Fortunately photos are there.

A big hug to all of you,

Josée xx

Dear Friends of Cutis Laxa Internationale,

My daughter, Katy Carta, 14, is the best person I know. She is a beautiful girl. She is kind-hearted and compassionate. She has multitudes of friends. She has a great sense of humour. She has a rare gift of understanding beyond her years.

When strangers stare at her I am reminded that she also has another rare gift : cutis laxa. I try to tell her that, in its, it is a gift. I tell her that to people who know her and love her she is truly a beautiful girl and that the opinion of others do not matter.

Katy’s response is to look at me as if I am a fool. I am not the one who has lived a life under the gaze of others. Our family would like to move to another home, but we can’t do that to Katy, as she would have to change schools and go through “that” all over again.

Katy will be starting high school in August. It is such a difficult time for any child. However, I have to have faith that God knows where Katy is and will continue to provide her with friends to help her get through.

I would not have wanted to live my life without having met Katy Carta. It has been a rare gift to me.

Sincerely,

Karen Carta, Katy’s Mother

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Message on 8th May 2016

The experience of meeting other CL sufferers was SO important for my daughter and I. I am happy for our daughters as they needed to find each other in this big world.

The place we stayed, the food we ate, it was all first-rate. Mere words do not express the feelings in our heart as we returned home; happy to have made such good friends and sad to have to leave.

All that you and the organization do are so necessary to the sufferers and their families. You give them hope ; you give them unconditional love, and you break the isolation they must feel.

We love you and your family very much and are looking forward to seeing you again and again !

Karen, Katy’s Mother

To everyone on this list,

My daughter, Laura who is now 19, also has Cutis Laxa. We live in Tulsa, OK.  She was born in Plano, TX (suburb of Dallas), and our pediatrician was very concerned as soon as he saw her because she looked so different…like a Sharpei puppy.  She had lots & lots of loose skin, folds of it…I called her the Little Old Lady from Plano.  She had unusual facial features, her fontenal was huge, even her skull was weird, etc. She had unusual eyes & her jowls were loose & funny looking. Very different looking than my other 3 babies.  I knew she was different yet refused to accept, let alone admit it. My pediatrician was particularly concerned about her skin & told me had she been a postmature baby, that the old & wrinkled appearance would’ve been normal, but being that she was 8 days early, he was concerned. He had other pediatricians look at her & they all told him he was overreacting & she’d just grow into herself.  He thought maybe she had Turner Syndrome, but my OB/GYN said that wasn’t possible because my aminocentesis showed both X chromosomes were present, & if she had Turner’s, there would’ve only been one X.  At her 6 wk checkup, my pediatrician asked me to ‘humor’ him & take her to the Genetics Clinic at the University of Texas Health Center in Dallas.  Said he’d seen thousands of babies & with that in mind, he knew what normal babies looked like & she had “unusual features”.  So, off my husband & I went with me being totally convinced my pediatrician was nuts, didn’t know what he was talking about, & these genetic Dr’s were going to tell me my Dr. didn’t know what he was talking about.

Boy was I ever wrong!  Instead, I was told I had a sharp Dr., that yes, there was something wrong, but they didn’t have a clue what it was.  I had brought them pictures of my other 3 babies, all boys, 2 of them identical twins.  I also had the pictures of the twins chromosomes from my amniocentesis w/them, & Laurie’s chromosomsal pictures as well.  Plus pictures of all 3 boys (my first baby had just turned 5 & the twins were 19 mos)…I was bound & determined to prove to those Dr’s my baby girl was fine.  For them to tell me my Dr. was ‘sharp’ wasn’t at all what I expected, let alone wanted to hear.  Talk about denial!  Wow.  Have I ever been there.  Anyway, they produced this book w/pictures of babies & children w/all these weird syndromes that you never hear about.  They thought she might be the 8th known case in the world of this one syndrome, but not sure.  Took all these pictures of her & we had to sign a release which would allow her pictures to be used anywhere.  I figure she’s in some medical book somewhere.  Sent her pictures to genetic specialists all over the country, as well as Dermatologists as they suspected it had something to do with her skin.  They wanted me to meet with the head of their Pediatric Dermatology department but she was on maternity leave, so we had to wait for her return.  They talked about testing her…and me…. to see if she matched up to the pictures of her chromosomes from my amniocentesis, but after comparing her chromosomes to those of her twin brothers, they said it was obvious that the 3 babies were siblings.  Their thought had been that somehow, during my amnio, that my fluid had been extracted instead of the fluid surrounding her in the sac, & that the chromosomes that they were actually looking at were mine instead of hers!

When Laurie was 3 mos old, we finally got in to see the Pediatric Dermatologist….when I walked into that exam room w/my baby, there were 8 Dr’s standing there waiting to see us.  They had just returned from a genetic conference in San Diego, & each of them took one look at her & said “That’s Cutis Laxa”.  They talked about doing a biopsy of her skin, but decided against it as they said it was “obvious” she had Cutis Laxa.  Told me she’d grow into herself by the time she was 6 or so, & if not, they could do plastic surgery to “tighten her up”.  That we’d just have to see & watch as she developed & grew.  No treatment for it.  Told me her motor skills would be slow, that often Cutis Laxa patients have all sorts of internal problems such as liver & pulmonary problems, that many patients don’t live past the 4th decade, etc.  That we’d just have to watch her to see if any of these other symptoms besides the obvious skin issues developed.  Explained to me that Cutis Laxa is GENETIC.  You don’t develop it, it’s not a disease that you can catch or come down with, it’s genetic & you’re born with it.  I’ve never heard of anyone who has Cutis Laxa who was diagnosed as an adult…they’ve had it all along.  The jowls on the face are a major indication, the loose floppy skin, slow motor skills, etc…..what is Cutis Laxa?  No elasticity in the skin, and it’s a derivative of Ehlers Danlos Syndrome.

She didn’t sit up by herself until 13 months, didn’t crawl until 15 months, & by the time she was 18 months, the pediatrician was concerned because she wasn’t walking.  Also concerned because her fontanel was still huge & covered the entire top of her head.  Sent me to a neurologist who asked why are you here as she’s crawling all over the place.  Sent me back to the genetic people who said she was slow because of the Cutis Laxa, did a “Denver” test on her & said she was perfectly normal & should be walking w/in 2 mos.  Six weeks later she was & today you’d have no reason to believe she didn’t walk until she was nearly 21 months.  Her fontanel didn’t close until she was 5!

Laurie has been through a lot health wise as she’s grown up.  She had terrible sinus problems…at one point she had 3 surgeries in less than 4 months w/a central line in place for 4 l/2 months.  She was blessed to have been accepted into the Shriner’s Hospital program & is a patient @ Shriner’s Hospital in Chicago where she’s had 3 surgeries.  Plastic surgery on her face as she was flat between her eyes, & she had no ‘bridge’ on her nose.  They narrowed the space between her eyes and gave her a bridge, as well as realigned her chin.  She also had a tummy tuck!  Just turned 17 & she got a tummy tuck, boy was I jealous!  What’s wrong w/this picture?  I was the one who had 3 babies in less than 2 years, & she gets the tummy tuck?!!!  They took nearly 2 lbs of skin off of her tummy & she’s now the proud owner of a flat tummy & looks just like any other normal teenage girl.  Her skin is sti very loose, she bruises terribly easily & develops a severe hematoma when she bumps her leg or arm on the bone itself.  We nearly lost her when she was 5 as she fell, had a misdiagnosed skull fracture & began bleeding between her skull & her skin….a major subgaleal hematoma whereby her skull swelled so badly she literally looked like ET.

We moved to Tampa from Plano when she was 4 & she was under the care of the Genetic Specialist @ University of South Florida.  Moved to Tulsa when she was 9 & the Genetic Specialists here felt there was something else wrong with her, that it wasn’t just Cutis Laxa. Did all sorts of blood tests & finally concluded it was just that….Cutis Laxa…& the head of the Genetic Department told me it was the mildest case of Cutis Laxa he’d ever seen. Got in touch w/his friend in Tampa @ USF (her now former Genetic Specialist) & they concurred the same thing.  She hasn’t developed any of the other problems that were first described to us when she was 3 months old, and we’re very grateful & blessed….so far.

Now that she’s in the care of the Genetic Specialist @ Shriner’s Hospital in Chicago, she’s very fortunate as he has found a researcher at Washington University in St. Louis who is studying Cutis Laxa & agreed to study Laura herself.  We have submitted blood samples & he is studying her, as well as me & her father, to determine

1. a) what type of Cutis Laxa she has,
2. b) whether her gene is dominant or recessive as it’s vital that she knows that as it will determine whether she has children or not.

If you want a 2nd opinion, I would like to strongly suggest you make an appointment with our Genetic Specialist in Chicago. He is a Paediatrician and is very familiar with Cutis Laxa. I trully believe you’ll find him helpful

Please let me know if I can help.  I had noone.  Noone who understood or who had ever heard of Cutis Laxa other than our Dr’s.  There was an Ehlers Danlos support group in Tampa, but none of the members had Cutis Laxa.  Finding Angela Glazener several years ago simply because my son saw a story on her on TV during a news broadcast has opened doors for us, and my daughter….who thought she was totally alone….was thrilled to find there are others out there, just like her. Angela Glazener and her son both look like Laurie did before her plastic surgeries. Sometimes when I see photos of children suspected to have Cutis Laxa, I do not think that they have Cutis Laxa as they do not have the same facial features,the jowls,etc. But what do I know?  I’m just a Mom who has been exactly where you are now & wanting answers.  I’m still waiting.

The joy for me now is seeing how beautiful she is, and watching the joy she feels in being pretty for the first time in her life!

Sincerely,

Susan Dickison Nuner..and of course, Laura

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Email on 30^th June

Dearest Marie,

Just a note to thank you again for everything that you did to make our event in St. Louis not only happen, but successful! I truly can’t put into words how very much all of your efforts & of course, those of Jean-louis, are appreciated. You are truly a gift to all of us afflicted with CL.

I’ve attached our pictures, hope you enjoy! Has Cecile enjoyed her Lucky Charms, & did you remember to give her the little bear I gave you for her ? Please remember the maple syrup goes on your pancakes or French Toast, & it’s real, too….made from the maple trees in Vermont. I’d like to send these to Nathalie but have misplaced her email address, so if you would please share them with her, I’d appreciate it.

Love to you both,

Susan

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Message on 8th May 2016

Had a wonderful visit to France ! Met some pretty amazing people and saw my CL family once again.

It’s amazing how so many people from so many countries can touch each other’s heart in the same way. Glad I went and it’s not goodbye, it’s until next time.

Laura

Email on 29th May 2008

Hi Marie-Claude,

I was thinking about you but you anticipated me…Sorry for being silent. I know all the resting time you needed. I did not talk about the meeting, but it is a wonderful thing that your support group exists. There is one thing I am perfectly sure of : how I benefit from it. It will probably make you smile, but the quantifiable relief is that I no more ask myself instinctively if this or that X beauty cream is this answer to my – our – problem. I found it funny when I noticed my relief as it had been exhausting….. More seriously, I now look at my life a bit differently : as a sportsman said (I don’t remember his name) : “ Whatever life is made of, keep on learning”. I had forgotten this concept. And it is a great part of my equilibrium, of my hope.

Email on 8th June 2008

Dear Mrs Boiteux, I had your email but didn’t find time to answer it. Please forgive me.

My wife and I were very pleased with our trip to Paris for the Cutis Laxa Days.

We can collect toners and cartridges at my work et we can send the money to the association very regularly. I will tell you about it in a future email.

I attached photos of our stay in Paris and the questionnaire you sent me.

Affectionately

Vicente H. Gomez Jimenez

TRUDY and their dad, DOMINIQUE (UK)

Email on 12th June 2008

Hi Marie-Claude, I hope everyone is well. I have fond memories of Paris which will stay with me for a long time to come. My friend and I are starting to do some fundraising at local fetes and need some promotional stuff i.e. a banner, more leaflets and collection box’s, can you help ?

Regards

Trudy xx

MAVERICK , his mum , DONNA and his sister Kaitlyn (Australie)

Email on 16th June 2008, with the account below in attachment

Hi there everyone. 

Just a quick note to say we are all fine, and trying to get back to the usual grind of things.  Kate, Mav and I really enjoyed our time overseas!  We saw so much, and learned many new things.  The knowledge I gained will help next time I travel!  For instance Only stay in Formula 1.  Very cheap accommodation, very clean and accommodating.  Next is have an itinerary.  Planned trips are definitely better. 

Mav seems to be doing better at school, as I am encouraging his schoolwork by keeping a close eye on his progress.  I attend school twice weekly with him and once a week he does his work at home. I am trying to teach him to deal with distractions, as schooling gets harder the older you get.  I was given some great insights into Maverick during our trip, which have helped our relationship, and his behavior at school.  Meeting with other kids with similar obstacles as Mav have helped him cope a bit better, although now he misses all his new friends.

Katie has gone from strength to strength since our trip.  She is more self confident than ever, as she has some very interesting topics to discuss with her peers, and good memories to share with her friends.

Myself, I am still trying to get back into the swing of daily life as my body clock was altered since the trip. Old age creeping in on me huh?

Dion and Krystal had a good time with my mother while I was away but have become a little more clingy, and Krystal has a few more “accidents” than before but they are glad to have us home.

Thank you to everyone who had a hand in us travelling.  From Cutis Laxa International, those who lent us money during our trip, those who opened their house to us while we were away, those who signed documents, those who babysat and the friends we enjoyed times with over there.   Thank you everyone.

Kind regards, and much love to all, Donna and kids. 

Our trip to see the Eiffel Tower.

Kaitlyn, Maverick and I flew with Singapore airlines to Paris for Maverick to meet up with others who have the same skin condition as he does.

On the very big planes they had small televisions at the back of the seats, and remote controls and headphones, so you could choose what you wanted to watch or play on Nintendo.

We waited at Singapore airport for our connecting flight. Our first trip was 8 hours and the second trip was 12 hours. Maverick got bored on the first trip, and on the decent his ears hurt a lot. Kate was very excited to be flying in a plane for the first time.

When we arrived at Charles de Gaul airport in Paris the first thing we found was a Mc Donald’s. At least we knew the menu.

From our window in the Hotel Brancion we could see the streets below. It was fun to see people walking around. Everyone spoke French and I don’t know how to so we did a lot of sign language and pointing.

Maverick met some boys who look very similar to him. They were Simon from Canada, Karl from Germany and Vincent from Spain. Two sisters from England came too. We could speak their language! Although the kids spoke different languages they played well together. Smiles speak in all languages.

All the buildings in Paris are very tall and they all have so many chimneys.

There are beautiful bridges over the river Seine.

We had a night time dinner cruise, and saw the Notre Dame and many bridges with beautiful statues on them. The most amazing of all was the Eiffel Tower at night with the lights all sparkling.

When we went to see the tower in the day, we were amazed how tall it was. We had our photo taken in front of it, to show our friends. Mav and Kate went on the Merry-go-round. We ate yummy icecreams.

The Eiffel Tower was originally built to be a display for a world exhibition in Paris in 1889 and it is the tallest building in Paris. About 81 storeys high! It was named after Gustave Eiffel who is the man who designed it. After the exhibition the people of Paris decided they liked the landmark and kept it.

We didn’t go up the stairs to the first level because the line up was very long and we had to get to an appointment after seeing the tower.

There are 328 stairs to the first level and another 340 steps to the second level.

There is a big light on the top of the Eiffel tower which spins around like a lighthouse, but it is just a display, for those in Paris to see the brilliant tower.

Food in France is delicious but doesn’t seem as fresh as ours. They cut their meat differently too. They don’t get fresh milk. I could only buy longlife milk which didn’t taste as nice.

http://www.tour-eiffel.fr/teiffel/uk/ludique/espace_enfant/index.html This us a good game to go to and learn some more about the Eiffel Tower.

We met some lovely people and made some new friends from all around the world. We were very tired when we arrived home but we have some memories that will last forever.

By Donna, Kate and Maverick Walker

My trip to Saint-Louis, Missouri, United States – 20 and 21st June 2008

This trip was full of emotion and for many reasons. To begin with, it was my first flight and the first taking off put my stomach upside down, but nevertheless the view from above is just wonderfull. I must confess that after a 12 hours trip/flights I was really happy to put my feet back on the earth.

Marie-Claude and I arrived at the Hotel on Thursday 19 th June at 7:30 pm (2 :30 am in France). The American Families who had organised these 3 Days in Saint-Louis welcomed us in the Hotel Lobby. We were about ten sufferers.

On that first evening I met Laura, 21, who has the same particular hands as I have. I was very disconcerting to put our hands face to face and see how similar they are. On Friday we had an appointment at Saint Louis Hospital with Zsolt Urban, doctor and researcher for a Cutis Laxa consultation day. Tests were planned (echocardiogram, lungs tests) as well as blood sampling, photos, and a biopsy. Not without difficulty, as far as I am concerned, with such painfull memories of my childhood cropping up. I had my last biopsy when I was 5 and at that time there was no local anaesthetic.

Zsolt Urban is a very kind and very humane doctor, as well as all the members of his team. A strong emotion overcame on me when Zsolt Urban assured me that I only have Cutis Laxa. As I am a bit atypical, until then, among the sufferers we know of, none of them has bone fragility added to Cutis Laxa. And now he was telling me he knew of 2 other cases in the Netherlands. I must say that after 36 years “wandering” for a right diagnosis I come back reassured and feeling much less isolated.

On Saturday morning we had a meeting on Cutis Laxa with Zsolt Urban and the whole team, pneumologist, cardiologist. Marie-Claude was also one of the speakers. She talked about our support group Cutis Laxa Internationale and we discussed the possibility for a « chapter » to be set up in the USA. We then had lunch all together. Saturday afternoon was « free » so we went and visited a little of Saint Louis with Patti, Marissa’s mother.

We all met again with Zsolt on Saturday evening and shared our last « typically American » diner. It is always a very pleasant opportunity to share moments of our lives. Sunday morning was the time for tears when we said “goodbye”. American families had been so kind with us.

I will conclude with saying that our disorder is certainly rare, but we have the great chance to have with us doctors and researchers, in France and in the USA, who have a rare kindness and a great humanism. Many thanks to them and « Thank You » to the American families.

« Thank you », Nathalie

Email on 24th June

Dear Marie: 

I hope both you and Nathalie had a safe trip back to France.  I can’t begin to tell you how inspirational it was to meet both of you!  Your efforts on behalf of individuals with Cutis Laxa is incomparable as is Nathalie’s zest for life even as she faces so many medical obstacles.  Both of you possess courage and energy that is contagious and after meeting the two of you, I felt it was a life changing experience.  Thank you, thank you, thank you!  Be well and I hope to see both of you again!

Patti Marchesi

Email on 29th June

Hi Marie!

I wanted to thank you for putting together such a wonderful meeting last weekend.  I never dreamed I would learn so much and would be able to meet so many individuals with CL.  I am very excited about the future of Dr. Urban’s research, and I believe doctors will make some serious headway in their research. 

Thanks again for all your time and efforts!  They are very much appreciated by everyone here in the US!!

Take care,
Leann

« My little Mummy, our Little Mummy,
10 years ago Daddy and you started this beautyfull story.
Since he went away, you support with all your body, all your heart and all your soul this big Family : Cutis Laxa internationale….
What wonderfull things you have established since then and if you had not been there we would not be here today…
I still remember those nights you spent at your computer, working and searching:

Searching for other sufferers so that they would not be alone anymore,
Working with doctors so we could hope that one day a treatment could be found for this disorder..
Searching for grants, as unfortunately without them we would not be anything today.

But most of all you always found the words to remove the fear, anguish and loneliness, whatever the time, day or night.
There is no word strong enough to describe all that you have done for us all !!

So the only thing to say is:
Thank you Mummy, Thank you Marie-Claude, Thank you Marie, Thank you Madame la Présidente
Thanks to you we are not alone and not afraid anymore ;
Thanks to you we are no more 8 little families, but  185 who have  found the strength to fight ;
Thanks to you we are today a big family, closer and closer day by day ;
Thanks to you Hope is inside us ;
Thanks to you we are all together here.
Moreover, thanks for your love and devotion, you layed out a path. We just have to ollow in your steps, all together, for this love story to continue getting  bigger.

We all love you, from the depth of  our hearts, Marie-Claude ! »

(17 Septembre 2011 – 4th Information Day on Cutis Laxa – CLI’s 10h Anniversary )

We are back to our house. We traveled through beautiful regions in France, Switzerland, Germany, Denmark and Sweden.

Our lovely cats met us on the steps when we arrived. They wondered how we had it on our trip. We replied that it had been wonderful, emotionally rich, instructive and very, very, nice to meet all of you in the CL-Internationale.

Now many feelings and thoughts to be sorted. You should know, however, that it is with great gratitude we look back on the days in Annecy .

Many thanks for your commitment to us with the diagnosis CL. Arranging these meetings is a massive work. Your and your family’s work is a huge effort for us with CL. Again : Thank you for the wonderful days in a wonderful Annecy.

What dedication ! What Joy ! What wonderful people you are ! Thank you for existing!

(8th May 2016-Annecy)

I want to say a big thank you to you all for creating a wonderful week-end for the Cutis Laxa Family.

It was obvious from all activities that you had put so much effort into meeting the individual needs of everyone who attended. From the moment I was met at Geneva airport I felt welcomed and included and appreciated your hospitality.

It was very special to meet and share experiences with such a kind and caring group of people and learn more about Cutis Laxa.

I have sweet memories of the weekend and all the amazing people I met. Thanking you so much.

(8th May 2016-Annecy)

Kay, Alana’s Mother

I was really delighted with meeting all of you !

You have all been wonderful and I really do not regret to attend and finally I even found that we did not have enough time to talk with each other, but well, maybe next time I hope !

Thanks again to all the organisers ( All the Boiteux Family members were incredible)and all the speakers who also were accessible and answered very kindly to all the questions we asked !

I am proud to be a member of this Big Family who gave me more human warmth and tenderness than many people in my close circle !

A friend told me that I came back radiant !!!!!

(8th May 2016-Annecy)

LUCELYS – 2017 – Venezuela

Today, 14^th of January 2016, I discovered something which filled me and moved me deep in my soul  :  CLI..

I am neither ashamed, or upset, because unknowingly I am part of it. Really this website touches my emotions when reading the testimonies as I can identify myself with what some of them say.

From childhood I’ve had to learn to live with it, and most of all with all those comments, those gazes and bullying remarks from others. And I know what they felt because, I know, myself, how it feels!

Today I am already 20 years old and those things do not hurt as much as they did. I think that when you are a child starting to discover what is happening, it is then that you are most affected.

At the time, I always tried to live with joy and happiness and I never excluded myself from society or stood away from people loving me, I think isolating oneself is the worst. But it happens even when you try not to be isolated; it does not help to get bullied. It is not that people are nasty, but they are ignorant and do not know your condition.

When I was a little girl, I was afraid of going out and asking for anything and I must admit that it was really hurting. Today if I get bullied, sincerely, it does not hurt me anymore, I have heard them so many times that I don’t care. I know who I am, how old I am and I always knew it, it hurts less as I am an adult. I am 20.

I must say that I NEVER dared asking my parents about my condition and my sister’s. And I only remember once when my mother talked about it and I know that it always hurt her but nevertheless she always loved us. I remember when I returned from school, she always asked how the day had gone, if I had little friends or if a child had told me something or had made fun of me. I never told her as I knew it hurt her as much as it hurt me. Moreover, I had no spite against them, but I was feeling sadness, pity for them, I could not understand why they were so cruel.

I always knew that my sister and I were physically different from the others, our appearance, our skin could confirm it, but, as I already said, I never dared asking our parents. And know it’s only because of fear that I didn’t ask.  I wanted nothing to change, but I knew I had something.

Some years ago, among papers I found at my parents, I read a medical diagnosis saying « Cutis Laxa Syndrome ». When I read it I learned it’s name. Until today, I have never told anyone that I had read it. Until today, I hadn’t come across any information about it. When I started searching and read, I mostly found PROGERIA and I thought Progeria and Cutis Laxa were the same thing. Thank God that’s not the case. I read a little about it and even if there are some common issues, they are two different conditions.

Now that I found CLI, I have not only discovered that my sister and I have this disorder, but also, I always wondered if somewhere in the world there were people with this condition…… and thanks to CLI I discovered that, yes there are.

Today I pray to God for all the sick people, for all those who suffer from any syndrome and for all those who suffer more than those who have a rare disorder, I mean those who bully others. I ask God for more sensitivity for all, more humanity, more acceptance and less discrimination.

All things considered we are all children of the same father, we are all equal despite our physical conditions. I am who I am, you are who you are, let’s build a world where I can live and be me, where you can be and still be you, and where neither you nor I will force others to be like you or me!

note : Written in January 2016, I am now 21 ! Yesterday I decided that my condition and my sister’s were not taboo anymore. It’s true to say that before this decision, I was a bit afraid, because it could have an impact on society, but I imagine that it is how it goes when a disorder comes to light. In addition to having lived a very normal life accepting myself as I am and being used to CL (Cutis Laxa), it’s true that it was difficult at first, mainly because of the bullying and the looks I got from other people, as if you were something strange.

This is why I decided that Cutis Laxa was no longer taboo. I want people to know what it is and what it means. I want our condition to be recognized, especially to avoid bullying. I want all the world to know what Cutis Laxa is and if someone else in the world has it, be sure you are not alone. You can get information on what you have. I always asked myself that question: is there, somewhere in the world, someone else like my sister and me ? I had not researched anything about that before, it is only this year that I’ve found Cutis Laxa Internationale and it was incredible. I discovered that my sister and I were not the only ones in the world with this disorder.