A Personal Account of My Experiences With Rothmund-Thomson Syndrome (RTS)

Here is a personal account by a member of our RTS community. Click here to download the full story!

 

Report on the first meeting of the South Yorkshire/Lincolnshire RTS Club

Hi, well the inaugural meeting of the families of Alsmum and Becki took place in Boston Lincolnshire on Saturday 29th May 2010.

 

England being England the weather was grey and rainy but we didn't let that dampen our spirits. Parents were comparing notes on everything from prescription products, medical histories and hospital visits to arm, legs, cheeks and ears, etc while all the boys wanted to do was play on games consoles! The two families got on very well and we all intend to meet up again in the near future.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Alex's Story (11 years old) (told by his parents)

Alex was born in 1998 at a very healthy 8lb 7oz, with very, very fair skin and bright red hair (the fairness of his skin was not a pointer to anything for us at that time, as we are both very fair skinned ourselves and both have red haired siblings).He started being ill from a few days old with eye, ear, throat, chest and skin infections almost one after another. Then came the rash at about 10 weeks which everyone was baffled by.

 

Then the stomach problems arrived!! Every time we thought he had finished with the diahorrea and vomiting it would start again (this lessened over quite a long time and eventually stopped) weight just seemed to roll off him and he was very underweight.

 

Luckily for us we are blessed with marvellous GPs who over time referred us to paediatricians, dermatologists, geneticists and many other specialists until finally in 1999 at approx 18 months old we got the diagnosis of RTS. Which totally floored us. We couldn't find much information on the condition as we didn't have access to the internet at that time and there had only been a few reported cases in England.

 

Although we were, at the time, totally devastated at least we knew what the problem was and could start dealing with it, with the support of our many specialists.

 

Alex was, and always has been, a bright, intelligent, outgoing and happy child and we were determined this was not going to change just because of a medical diagnosis.

 

He is now nearly 12 years old and although still tiny in build and weight he is very fit participating in many sporting activities, namely karate and has won many trophies. RTS does not hold him back in any way.

 

As he's got older the infections have become less fequent, although he still picks up more than an average of virus' when they are going around! (we find daily vitamin C helps this).

 

He has in total had 5 operations, 3 to remove lumpy nodules from his elbow, as they kept becoming infected. 1 was a bone marrow biopsy as his white blood cells were enlarged and they needed to check there was no underlying problems (he has 3 monthly blood checks and this is just how his blood always is) the 5th was an adenoidectomy and gromits fitted in his ears to lessen the ear infections. It has been an eventful 11 years to say the least!!

 

Through all this Alex has managed his condition with the minimum of fuss, he attends mainstream school, and although school are aware of his condition they too deal with it with the minimum fuss.

 

He has to take vitamin D supplements twice daily, as due to using sunblock all the time he does not get vitamin D from sunlight. He also uses bath/shower oils and a moisturising cream 2-3 times daily due to some premature ageing. All this combined with his healthy lifestyle is keeping him on top of the condition thank goodness (we wouldn't change him for the world because if he didn't have RTS he wouldn't be our boy and we're very proud to be his mum and dad).

 

Hospital appointments are now fewer (we still average 1 per month though!) and we try to make them during the school holidays so time off secondary school is kept to a minimum.

 

Thats about all we can remember for now!

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Daniel and Alicia Abeyta's Story (6 & 3 years old)

Daniel and Alicia Abeyta are now 6 and 3. Daniel has always been a big boy with rosy red cheeks. Then he had rash on his ears, arms and then his legs. We thought it was excema. When we went to the dermatologist at UNM they were shocked. they said they had seen only one case like this. They wouldn't tell us what they thought he had until they did a biopsy. Before we knew it 10 doctors had come in to see him. I panicked. Of course the diagnosis came back as poikiloderma. Then blood draws confirmed the RTS diagnosis for both children. We were in denial the first 6 months and did lots of crying. Alicia has the stomach problems and short stature. Daniel just has the rash. I finally decided we will live each day as if it were the last. We do everything possible to keep them safe and happy. I figure we will have no regrets whether we have them for a short time or they will probably outlive us all!! Any how they have reached and surpassed all of their milestones. Daniel is learning violin and Alicia is a little dancer. Our lives are fulfilled.

 

 

Victoria Kimmel's Story (24 years old)

Shortly after I was born, I was diagnosed with Rothmund-Thompson Syndrome (RTS). Little did I know what type of an affect it would have on me, and the world around me. As if the world wasn't already scary to me as a child, God had to add an extra spin to it and make me special. Imagine being a full foot shorter (4'6") than every other kid in your class.  Imagine missing the radius bones in your forearm and the bones in your thumbs.Or, imagine being a teenage girl with a blotchy skin condition and a receding (balding) hairline. Well, if you can imagine all that, welcome to my world. I happen to be one of the lucky ones that also have keritosis on my feet and hands. It's really not that bad, but in the winter or dry cold weather I tend to get cracks on my hands and feet that bleed, so I end up wearing band-aids a lot. My friend's call me the band-aid queen. I always have some with me!

 

I am inquisitive and outgoing by nature, so it was only natural that I would ask my parents and doctors a lot of questions about my condition and conduct research online for myself. Since RTS is so rare, with only a couple hundred cases documented, it was a struggle to really figure out how my syndrome would affect me, as I grew older. Medical journals and papers can only tell you so much, if you can understand them at all. For a long time I was feeling alone in the world with no one to talk to. I tried talking to my parents and they helped as much as they could. My friends would do their best to cheer me up from whatever slump I was in at the time. While this helped in the short-term, what I really wanted was another living, breathing person with RTS to share my feelings, fears, and experiences with.

 

One day, while searching the Internet for anything I could find associated with my syndrome, I found a web page dealing with RTS. My heart skipped a few beats when I saw this. I opened the page to find out that this guy, Sean, had RTS and was looking for other people with RTS. The thought of finally being able to talk to someone with RTS was almost too much for me to handle. That was by far the best day of my life! It was a dream, come true.

 

We have been e-mailing each other now for a few years and it has been unbelievable! It turns out that we both had the feeling of being alone in the world with no one to talk to, being picked on by people at school, and being looked at constantly. In the summer of 2002, I had the opportunity to go to Texas to meet with Dr. Wang at Baylor University. Dr. Wang is conducting a major research project on RTS and cancer. My family is now part of her study. It is a great feeling to know that we are helping researchers find out more about RTS. There are so many unknowns today. While in Texas, I got to meet Sean for the first time. It was so nice to be able to sit down and talk to someone about everything and anything for hours.

 

Since my trip to Texas in 2002, I have been back one other time to meet other people with RTS. It's hard to believe that six years ago I was "alone in the world." I am so grateful that I have people to talk to about RTS. It's not that my friends and family aren't supportive, but you have to have this syndrome to be able to really understand some things. No one really knows what it's like to be looked at by everyone you pass by. Having kids run behind there parents telling them "look at that girl. Why does she look like that?" No one can really understand how that feels. I'm finding it easier to deal with things day after day when you know there's someone to talk to if you need them.

 

I would love to be able to work with Dr. Wang in the future or at least the same hospital so I can meet all the people that come in. I would also really like to see a support group get started for us, you know like being able to hang with all these cool people for a few days! For now I'm keeping busy with my last few semesters at college. I have my A.S in Psychology and I'm currently at George Manson Univ. getting my B.S in Psychology. It's been a ruff 2006/2007 since there was a bunch of medical issues going on (I was doing so well for the longest time! (No broken bones, not sick.... knock on wood) But I'm happy to say that while I had to deal with melanoma there for a little while, I seem to be ok now and just need to keep an eye on things, like I was.

 

 

Delaney D's Story(2½ years old) (told by her parents)

Delaney was born on December 31, 2005. What a New Year's Eve celebration!!! The moment that I looked into her eyes I knew that she would do wonderful things in this world!!! During my pregnancy, Delaney developed slowly. She arrived a couple weeks late, weighing 5.7 lbs. In the delivery room, I remember Dr. Perkins and the nurse saying "10 perfect toes" and then dead silence. They carried her over to me and I noticed that something was hanging from her left hand. I asked Neal what it was and he said that it was her thumb. Looking at her right hand, I had to count her fingers, by touching them, as they looked perfect except that there were only 4...no thumb. Children's Hospital physicians in Boston and in Texas have been wonderful. The doctors have been unbelievable, in terms of their support and continued perseverance in finding out the truth behind Delaney's challenges. As the months past, new symptoms appeared, such as a red rash and sparse hair growth. During November of 2007, we travelled to Texas Children's Hospital Cancer and Genetics Center in Houston where Dr. Lisa Wang, an Oncologist and Researcher, verified that Delaney has inherited a rare disorder, Rothmund Thomson Syndrome (RTS). As the pieces of our puzzle started to create a more complete picture, we felt positive about meeting others' affected by RTS, as well as the professionals who are working diligently to find a way to prevent children, similar to Delaney, from developing bone and skin cancer.

 

Delaney is the strongest little angel that I have ever met who continues to make everyone around her smile. She lights up the room with her beauty and sense of humor. She works so hard to be more independent. Delaney's gracefulness through all of her surgeries and procedures attests to her strength and wisdom at a very young age. Delaney is the most special part of our lives and we cherish everyday we have with her!

 

Love,

Delaney, Michelle, and Neal

 

Delaney

I love to dance and sing.

I love my friends and all of life's things.

I love to go to school and make people laugh.

For such a small toddler, I am already visible on the map!!!

I am both strong and smart. My parents love me with all of their heart.

Everyday I have a plan... to remind others that they do not always have to hold my hand.

I am independent and wise, as many of you know.

Please stand by me and watch me grow.

You will not know me as "Rothmund Thomson Syndrome," I am Delaney...as perfect as a rose.

 

 

Ria's Story (8 years old) (told by her father)

A recollection by Peter Chadha, father of Ria Chadha in the hope that some points may help other parents and patients.

 

Our story began in London England , May 1999, when after a period of infertility suddenly Binu my darling wife became pregnant again with our second child after some six or so years of trying. We were over the moon!

 

At normal term, a baby girl was delivered weighing in at 2.2 kg (under 5 lbs) by a planned caesarean section. With the low birth weight, we also learnt that all was not quite well as the physician thought our baby, whom we named Ria, had been having problems growing due to a damaged placenta.

 

Nevertheless, Ria was a seemingly bright, very fair and normal looking baby (at least to us), and after being on the small side she began to gain weight reasonably and seemed without further any issues. Regrettably this changed with her first inoculation (vaccination), around September when she was four or five months old.

 

She used to be lively and jumped on up and down her legs etc like normal babies do. But after this inoculation she became very, very ill and after two weeks of suffering with it (as experience parents we initially did not panic but assumed these were just symptoms of the jab) she was admitted to hospital. The doctors thought she had a viral infection in her liver. She was very ill and from now on Ria was a really ill child and it was the start of a living nightmare for us and only God know how bad it must have been for her. She hardly suckled and if she did she would projectile vomit or have diarrhoea. She lost weight and her growth became static (it actually seemed to regress) any sign of baby chubbiness gone to skin and bones.

 

She had various infections and a poor respiratory system. We never seemed to sleep and our whole world was turned on it head focussing on our beautiful infant. We frequented hospital numerous times and her feeding had even to be done by nasal drip so that little drips of milk could be taken in slowly without her body vomiting. Oh those horrible times - her life was dangerously touch and go.

 

Doctors had no idea what she has but suspected various physical thing like a twisted gut and genetic problems and she was tested for Blooms and Falconis syndrome among other etc. (Even this was tortuous for her as she was so small the nurses could never find her veins.)

 

At about 6 month Ria had a prominent rash on her cheeks and cradle cap on her head. She continued to not grow (or "failure to thrive") yet her diagnosis of RTS was unknown. At 10 months we properly understood she had a problem with her Calcium which was has been so low at times doctors could not understand how her body functioned (thus we use multiple types of supplementation). She was not walking (and only began walking at two).

 

All this time we had been with a supposedly good teaching hospital but diagnosis evaded us. In desperation we the fought to be transferred to the world famous Great Ormond Street Hospital for Sick Children in London ( a hospital made famous by Princess Diana its late patron and Peter Pan character).

 

Even here diagnosis took time though seeing many different doctors. It was only when Ria met Professor Harper, a dermatologist that we learnt that her problem was RTS, but this happened after the age of two! He diagnosed her because of the poikiloderma rash and the fact she could not turn/twist her hands (or supinate). She also had "light" bones (ostepenia) as she fractured herself by just sitting down.

 

Although it was a sort of relief to know what she had - it was sad as we learnt about all of the impacts RTS can have.

 

Ria's poorliness has continued, medical issues include:

 

Poor (almost non existent) growth (see later)

Malformed teeth - which means she ate liquidised foods for a long-time and now east softer solids.

Nail and foot problems.

Continued gastric and bladder weakness.

Poor sleeping.

Flaky skin highly susceptible to infections (Treated with Elidel). Very thin and now very dark. (Treated with Elidel)

Cornified and warty skin.

Osteopenia (weak bones- tendency to fracture)

Weak immune system.

Ear nose problems with hearing difficulties (she now wears a hearing aid) and nasal discharge

Delayed mental development, reading and writing are very difficult. Her memory is poor , she cannot use logic and sound words out, rather learning word by recognition. Her speech is delayed and she found it difficult to adjust to school (even though she was supported, when she was younger she would not even talk). However, interestingly she seems finely dextrous and artistic.

We took Ria to Houston in May 2003, there we met the prolific Dr Lisa Wang and her brilliant team and friend likes Gill and Victoria, fellow RTS patients (what a relief that was to see a real-life grown-up person with RTS!).

 

After 3 years of age Ria's day to day has settled somewhat especially given improved Calcium treatments and a lot of praying. Her growth rate had essentially halted (yes practically no growth at all). Her sister who is four years younger acted as a barometer as she grew taller and taller versus Ria. Although the case for using Human Growth Hormone was unclear her endocrine specialist doctor (Dr Brain of Great Ormond Street) decided HGH was worth a try, after much testing. We had not been keen until she was more stable but in any case at the age of 6 Ria started this treatment. Today at 8 years old she still weighs less than a typical four year old but she is growing! We attribute this to HGH as the change is clear when she started this.

 

Writing this story is very difficult - It is like a kind of cornucopia of bad things! You also remember the black painful times and of course your mind is drawn to the future which if you think too hard can be even more painful. However we try and we live life on a day to day basis and enjoy the time we have.

 

Moreover, Ria is a gem. Somehow she is very strong person. She is energy. People love her. People in our community and school know her - even though we don't know them! She has a magnetic personality wherever she goes. They love her smile and her charm. More than once she has been described as an "old soul".

 

Personally I feel indebted to her because we are much better people that we were. We were never "bad", but we were arrogant focussed on our average seemingly well-to-do "2+2=4" lives. She though has taught us about the value of life and enjoying each day (good and bad) and brought us down to earth. She has also made me very spiritual as we have turned to the Source (God) to help support us. In fact I have been awaken and learned spiritual Reiki healing and many other things too, beyond the imagination of a scientist I once was (PhD of Chemistry no less).

 

This is why I guess challenges are sent to us, why bad things happen to good people. It's about how your learn and how you react. It's about love and kindness. Ria has taught us these things. She is our little angel.

 

I hope our story helps.

 

Dr Peter Chadha, Harrow

London England September 2007

 

 

Alyssa's Story (4 years old) (told by her mother)

I am not sure even where to start. Alyssa's condition was a bit of a surprise. She weighed 7 lbs 2 oz. When she was born, she was whisked away from me and a pediatrician was checking her over. I was a little apprehensive as everyone kept looking over at me. A few minutes later the pediatrician came over to advise me that she had no thumbs and shortened and bowed forearms and this could relate to other organ deficiencies. As my husband is a soldier for Canada and was not present, I felt alone and very overwhelmed. Thank goodness my family and friends were around. As Alyssa underwent many tests, heart, lungs, kidneys, blood work etc and everything was coming back within normal limits, I began to feel somewhat better. No thumbs no big deal as long as she was healthy. Within a week I noticed that she was losing weight and was sleeping a lot and not really eating. She was aspirating her food (often chocking). I was very scared and began to worry. I was also apprehensive as I would be moving in 5 weeks time to be with my husband who had been posted to Alberta.

 

Once we arrived in Alberta we immediately attended the children's hospital. We worked with a speech therapist regarding the feeding issues and a dietician and saw an orthopedic surgeon regarding her radial deficiency and lack of thumbs. Alyssa's weight never did really change much even with the follow up. About 3 months of age Alyssa began to develop a rash on her checks, arms and back of her legs. It did not look like a normal rash but something under the skin. I went to see the pediatrician numerous times and it was thought to be eczema which we tried to treat with no results. We were finally referred to a dermatologist when she was 1 ½ years old. This doctor took one look at Alyssa and stated that she thought that the skin condition was related to the missing thumbs; radial deficiency; eating difficulties; small stature and low weight. She asked us to hang on and she went to do some research. She came back and said this child has RTS. We were excited because now we had a diagnosis that could be followed up.

 

Little did we know at the time that it was so rare that we were having trouble finding information on what we should be doing as parents. My brother in law actually found Dr. Wang's website which I immediately contacted. I received an email back immediately from her and within a few months we made our way to Houston, Texas to meet her. The rest is history as they say. We now have as much information as possible and have educated our doctors here with Dr. Wang's assistance (she forwarded her findings to our pediatrician). We now have yearly appointments in place for follow up with the appropriate specialists.

 

Alyssa is a very inquisitive 4 year old. She is almost 2'11" tall and now weighs 24 lbs. She still wears size 2 clothes, but that is okay. Although she is small she is very active. She swims; plays and jokes all the time. She has expressed interest in playing hockey and golf like her older sister. This will require some creative thinking, but I am sure it will work out somehow. I was originally concerned about how she would be received when she went to daycare and at first the children asked her many questions, but now it is not even a concern. She did have lots of questions for us though as to why she did not have any thumbs and why she has to wear sunscreen and keep a hat on her head etc. So for anyone who hasn't reached this stage yet get ready. Everyone's answer will of course be different, but our answer was that God made her that way and everyone is born special. When she enters kindergarten I will have a physiotherapist that works at the limb difference clinic we attend come in to do a talk with the children about limb differences and bring in prosthetics etc so as not to single out Alyssa. I hope this will help the children understand and answer some of the questions that they are sure to have. I am not sure how else to prepare our even if this will be a concern, but I am sure it won't hurt.

 

I hope that Alyssa's story like many others on this site will provide some sort of assistance and support to others raising children with RTS or living with it. As RTS continues to be studied and new information is being brought forth the support we can all provide to one another will prove "PRICELESS".

 

Sandra B.

 

 

 

 

Michael T's Story(11 years old) (written by mom Sheila T.) (Maine)

Michael was born full-term and healthy weighing 7lbs, 12 oz. When he was about 6 weeks old, I noticed some pigment changes on the backs of his hands and he had a rash on his cheek. We attributed the rash to his skin getting wet with milk while nursing and I didn't worry about the pigment changes on his hands until it starting "creeping" up his arms. At about 3 months of age, we saw a dermatologist. While this physician was trying to figure out what Michael had, he performed two skin biopsies on Michael's legs and treated him with ointments for a possible diagnosis of lichen sclerosis. The dermatologist enrolled Michael as a case study in a Dermatology Convention at Tufts University in Boston, which took place when Michael was 6 months old. By this time the speckled skin changes had covered both arms and legs in symmetrical patterns and his face. Many physicians saw Michael during the convention, two of which were convinced Michael had Rothmund-Thomson Syndrome. We were referred to our local genetics clinic at Eastern Maine Medical Center where Michael still visits annually for a check-up. At the genetics clinic the diagnosis was confirmed by physical examination (there was no genetic testing for RTS available at that time). We were fortunate in that Michael was born with no bone abnormalities. His diagnosis was based on the skin changes (poikiloderma) and his sparse hair. The typical "bald spot" babies usually get never filled back in on the back of Michael's head and his hair has gradually gotten thinner over the years. He prefers not to shave it off, though - he likes to have it sticking out like Einstein! Michael does not have stunted growth. As a matter of fact, he's large for his age - the largest in his class and >95th percentile for height and weight. The fact that I'm 5'8" and his dad is 6'4" probably helps! Michael does have a brother who is now 7 who does not have RTS and is also quite tall.

 

Michael has seen an ophthalmologist regularly since 9 months of age to check for cataracts, which he has fortunately not gotten. He also is treated for dry eyes. We put ointment in his eyes every night before bed. Michael has problems with dry skin, patches of eczema, keratosis on the soles of his feet, and some skin cracking. Michael does not tolerate heat very well and is very susceptible to heat exhaustion - good thing we live in Maine! I think this is related to RTS - he doesn't seem to sweat like the rest of us in order to cool down so he gets overheated very easily, especially during gym class and playing sports. That's probably one reason why his favorite sport is downhill skiing! He loves to ski and is very good at it! Michael also seems to have a chronic runny nose, which I believe is also related to RTS. He does have to be careful in the sun too, of course.

 

We have stayed in the same town Michael's whole life so kids at school know him and are used to him. Once they get to know him, they don't even notice that he looks different because he's got such a great personality. His best friend since 1 year of age didn't notice Michael's lack of hair until they were 4 and in preschool together playing a game like "Simon Says" where they had to touch their forehead, which the teacher explained "is where your hair starts".

 

Overall, we feel very lucky that Michael's symptoms are not worse. We worry most about the social aspect of RTS, especially as he gets older and heads into those teen-age years! Having speckled skin and balding hair causes some people to stare and strangers falsely assume he's having chemo treatments for cancer. Michael deals exceptionally well with this, however, and we are very proud of him. He has a wonderful, fun-loving and entertaining personality and has lots of compassion for others. He's very bright and does well in school.

 

We look forward to meeting others with RTS and Michael would especially like to meet others close to his age.

 

Townsend Family

 

 

 

Cisske Story's Story(2 years old) (told by her parents)

HI!

 

We are Paul and Isabel the parents of Brecht (4 years) and Cisske (2 years, 4 months). We live in Geel, Belgium. Cisske was born after 40 weeks of pregnancy, she was 44 cm (17 inches) and weighed 2.020kg (4 lbs. 5 oz). She had no thumbs; she has also a fixed luxation of both elbows. Four days after she was born she was transported to Leuven, a universital hospital in Belgium, because the pediatrician heard a quivering next to the heart. In Leuven they told us she had a coarctatio, that's a constriction of the aorta. When she was 3 weeks old, the surgeons fixed the aorta and placed a shunt. That healed all well, a little miracle on itself. After 2 long months Cisske was ready to come home! Finally! When she was 9 months, she had a pollicization of her index finger on her left hand and in 13 months on her right hand. The surgeon and my daughter did well; she can now grab things with her new thumbs.

 

The last two years where hard, she had a lot of feeding difficulties and she caught all the meanest viruses you can think of (rota, adeno, RSV,...). The docters gave us as diagnose: fanconi-like but now a few months ago, since she had the rash, the "discovered" it is Rothmund-Thomson. She's doing very well now, feeding problems are gone and she's the best play-buddy in the world for her big brother!

 

We want to wish all the best to all the parents who also have a kid with this syndrome, take care!

 

Paul, Isabel, Brecht and Cisske XXX

 

 

Giorgia's Story (3 years old) (told by her parents)

The original text is in Italian and can be seen that way first followed by it translated into English, the best we could.

 

Italian:

 

Ciao siamo i genitori di Giorgia Rossi una bambina di 3 anni e mezzo affetta dalla sindrome di rothmund thomson.A 9 mesi abbiamo cominciato a vedere sul volto delle macchie rosse allora abbiamo cominciato a fare delle visite per sapere la causa.All'inizio ci avevano detto che era una semplice allergia al latte,dopo di che abbiamo fatto ulteriori controlli e ci hanno detto che era una dermatite atopica ma neanche questa diagnosi era ,poi ci hanno parlato di psoriasi ma giorgia continuava ad avere queste macchie sempre più rosse allora siamo andate all idi(un ospedale dermatologico di roma molto efficiente) dove ci hanno detto che era una poichilodermia e l'abbiamo dovuta ricoverare per saperne la causa.Ci hanno fatto fare delle analisi genetiche sia a giorgia che a noi genitori fino a che è arrivata la diagnosi definitiva dove mi dicevano che era RTS.

 

Sappiamo di questa malattia che è molto rara e che ci sono 300 casi in tutto il mondo che si tratta di un enzima mancante nel dna e che il sole è un elemento che aggrava questa malattia.siamo a conoscenza che ci sono circa 22 patologie che fanno parte di questa malattia e che non esiste una cura.

 

Abbiamo contattato molti medici oltre a i dott. dell idi,siamo stati anche al centro delle malattie rare del bambino gesù(altro ospedale di roma)e siamo stati anche a parigi dalla dott.Claudine Bardoun Blanchet(luminare su questo tipo di malattie) per avere ulteriori notizie. Inoltre attraverso le analisi genetiche abbiamo scoperto che giorgia è il primo caso in Italia di mutazione(cioè che non è ne ereditaria e ne che i nosti geni uniti avessero potuto generare questa malattia ma bensì non si sa come sia potuto accadere).

 

Ora giorgia ha 3 anni e mezzo è una bambina allegra,cresce bene,il suo rossore sul viso è più lieve (cercando di proteggerla dai raggi U.V.A)abbiamo una crema solare 50+che mettiamo giornalmente .

 

è sottoposta ogni 6 mesi a controlli e una volta l'anno viene ricoverata in ospedale dove lei è in cura per ulteriori accertamenti.

 

Vorremmo sapere se qualcuno sa qualcosa di più su l' RTS di tenerci aggiornati e ringraziamo finalmente dell esistenza di questo sito.

 

English:

 

Hello! We are the proud parents of Giorgia, 3 years old, who has Rothmund Thomson Syndrome. Since she was 9 months we began to see spots on her hands and face (poichilodermia). It's after that we began to visit the doctors. The doctors have always talked to us about allergies, maybe it was to the milk but it wasn't. After the abnormal skin still continued and the doctors did not have a clue as to what it was, we decided to search hard for answers and we came across a genetic analysis. It was them who discovered it was RTS. Giorgia is the first case of mutation in Italy (not transmitted from we parents). Supposedly, it is one of the rarest diseases and there are 300 cases in the world and no cures. The only prevention they tell us about is to avoid the ultraviolet light from the sun. I protect her skin with creams that are 50+ spf protection from the sun along with the vitamin ECHO (beta carotene). We've been to many hospitals looking for the best doctors but no cures. Giorgia is a cheerful little 3 year old girl who is in good health and our doctors are happy with her developments. We put blush and sun cream on her face to protect her. Every 6 months we go to the hospital to do an assessment of her health. Does anyone else know more information on RTS, and keep us updated.

 

Thank you for starting the RTS site! We are happy to find you because before this we did not have hope of finding a page on RTS because Italy knows so little about RTS.

 

Sergio and Veronica

 

 

 

 

 

Amelie's Story (10 years old) (told by her mother)

My name is Anne-Marie Tychon, i live in Belgium. My daughter, Amelie, will be 10 years old in April. Amelie has 2 brothers: Julien (16 years old) and Louis (12).

 

When she's born, a genetic doctor told us she has Baller Gerold Syndrome. She had a craniosynostosis and no thumbs. At 6 months she began a skin problem. During the first year we searched to find what out was going on with her and finally a dermatologist told us it was a genetic problem. She also has a serous growth delay. She is very little. When she was 3 years old, the dermatologist and then the genetics people agreed on RTS.

 

She was operated for the craniosynostosis at 7 months. She was also operated on both hands. The surgeon took the forefinger and placed it to do a thumb so that she has a pinch. She has no knee-cap.

 

The more difficult for her is her height and for me her skin. She is 1 meter 13 centimetres. About her skin, we put every day 2 or 3 times sun screen on each part of the body not covered by clothes. She has also keritosis on her feet, hands, knees and elbows. It seems that it is becoming worth. No solution exists, only cream and a chiropodist comes every 6 weeks. I also hydrate her skin every day. If someone has another experience or solution, I would be pleased to learn about it.

 

Amelie has a normal intelligence and a very good character. She's always good mood. We love her so much. She suffers more and more of the glance of the others. She has difficulties to participate to groups for activities where she doesn't know others. Always questions, looks...

 

In Belgium we don't know someone else with RTS. We feel alone and are happy to know Victoria and the RTS site.

 

Thanks to all who have told their stories.

 

 

 

Amelie RTS

Gillian B's Story(27 years old) (told by her mom)

My name is Mary Byrne parent of Gillian Byrne who has just told me about this page. Gillian is 22 and doing great but this was not the case when she was younger. We had a very hard time rearing her but I would like to tell parents that in our case it all worked out amazingly well. Nobody knew what was wrong when she was a baby. She would not feed slept all the time had a very bad rash and was constantly sick. She was born at 6lbs lost weight was very cold she kept getting sick thick white congealed masses and ended up less than 10lbs at a year old. Her hips were out of place and she broke her leg 3 times and her arm once. At two she was diagnosed but no help given just told to keep her away from light. This was sunlight or any electrical light. We covered her in make up from then on and apart from eruptions every now and then her skin is amazingly clear. Her hands are now the worst because of damage when she was younger but amazingly she is now growing her nails and they are very strong another thing we thought would never happen. Her immune system is not great but all this means is, she keeps getting colds and flu. This annoys her because her sinuses keep getting infected. She has had many operations on her nose and ears to no avail she just has to suffer but she is very strong-minded and so far has no serious problems.

 

She is a very mature and happy person who keeps down a very good office job, is buying a house with her boyfriend and hopes to marry soon and have kids. She has been to hospital recently and had test that show that she should not have any problems conceiving. All this was unimaginable when she was younger.

 

Mary

 

 

Wade's Story (18 years old) (told by his mother, Colleen)

My son Wade started showing signs of pigmentation at the age of 3 months but living where we are living it wasn't easy finding any answers. I proceeded to take Wade to doctor after doctor when one of them finally decided to send him to Toronto's hospital for sick kids and I tell you it was numerous months before I even found out what it was. I think by the time that Wade hit the age of 5 I finally found out that he had RTS. Well with the doctors not knowing too much about this the only thing that they would say at the time is that the skin would always have those marks and that he wouldn't grow to be very big. Well it was many trying years I had in and out of the hospitals just for testing (blood work, x-rays, and more blood work) and still no answers. As many frustrated parents I gave up on Toronto's hospital for sick kids and started surfing the Internet. There is where I found Sean and what a god sent he was because he provided me with more answers and help then anyone else.

 

To let you know a little about Wade he has the skin pigmentation and the small in stature he has very dry skin and it cracks all the time in the winter (seems to be worse cause it is so dry). He has a problem with brittle bones he has been in and out of casts since the age of 3 he is now 18 and this has been a cast free year (touch wood). He has a problem in the healing some of those casts were on for as long as 1 year sometimes a little longer. Living in a small town he has had the same friends since kindergarten, which is really nice. Wade has a comical type personality and is very easy to get along with. (All though the past 5 years with RTS have seemed to have been the hardest for us, both physically and emotionally.) I think that a lot of this has to do with how Victoria puts it ...."It is very trying at this age".

 

Sincerly,

 

Wade's mom Colleen

 

 

 

 

 

Shauna's Story (2 years old) (through her mother's eyes)

My daughter, Shauna, is 2 years old. She was born at 6 lbs 13 ozs. At birth she failed her hearing screening and at 1 month old we learned that she had hearing loss in both ears. Shauna has worn a hearing aid since 3 months of age. Luckily, her right ear only has mild loss and to speak with her, you would never think she has a hearing problem. We are told that this is not related to RTS.

 

At approx 2 - 3 months of age, Shauna developed a rash on her cheeks. Being the winter months, her pediatrician diagnosed her with frostbite. After 3 months of this not improving we went to a Pediatric Dermatologist who initially treated her for eczema. It was quite clear after 2 weeks that this was not the case. A few blood tests were taken to rule out a few other diagnosis and we were told it was possible Shauna could have a syndrome called Rothmund-Thomson Syndrome. After 2 more opinions, with the same diagnosis, we were recommended to a Genetic doctor. Shauna was tested and came back with 2 gene mutations showing that she does have RTS. This was confirmed soon after her first birthday. About a month later, the poikiloderma spread onto her arms and legs. After being seen by an orthopedic doctor, she was found to have a very mild case of hyper-plastic thumbs. She is also seen by an oncologist at Dana Farber approx 4 times a year who is working with us and hoping to find some sort of screening for early detection of Osteosarcoma. (Obviously hoping there will be no need for this.)

 

Our genetic doctor gave us Dr. Wang's name and I have spoken with her quite a few times. I am so thankful for her. We haven't had the chance to meet her yet but we are enrolled in her study. With the information she has supplied to me, I have been able to educate some of the doctors that Shauna is seen by. Fortunately, most of the doctors have heard of this syndrome but have not seen many patients with RTS. Shauna is famous when she goes to the doctors. She has had more doctors who wanted to meet her and has had more pictures taken by doctors than many models have.

 

Shauna is now 2 years, 4 months old and seems to be on target for her size. She is approx 26 pounds and 34 inches tall wearing size 24 months/2T. (I think having a dad that is almost 6 foot 5 helps.) Shauna is a very bright 2 year old and has a personality that will take her far. I feel she was blessed with a comedic personality, as I am sure she will need it in her future journey of RTS. My husband and I don't know what the future will hold for Shauna, but one of my biggest fears is how other children will treat her. (Obviously, her health is my main concern.)

 

I would love to be in touch with others who are going through what we are and I'm sure many of you have stories to share. It's good to know that others understand what we are going through and I think that we can all help each other just by being here for each other. RTS is such a small group of people, we are blessed that there are people out there who care enough to geô us all together to share our stories.

 

I have read Victoria's story and know that having this site and other to talk to is going to be what Shauna will need in the years to come. I'm sure her perspective of her story will be much different from mine. I am living her story through the eyes of a mother with a child with RTS... she is the one living with RTS.

 

 

 

Mailing Address

Rothmund-Thomson Syndrome Foundation

4307 Woodward Court

Chantilly, VA 20151

Email us at

rtssupport@rtsplace.org