Lucy's Story

4 years old

Told by her mom

Meet Lucy Hanson, four years old from Westbrook, Maine. Lucy’s journey towards an RTS diagnosis started at a routine ultrasound when I was eighteen-weeks pregnant, it was discovered that she was not growing at a normal rate and I was diagnosed with intergrowth uterine restriction. We had genetic testing done at that time which all came back normal. My pregnancy was closely followed until it was determined at thirty-four weeks that it was best to deliver her. When she was born, she weighed 2lbs 4oz, but was incredibly healthy. She amazed all the doctors and nurses in the NICU by how little intervention she required. We spent a total of thirty-five days in the NICU, in that time she flourished, breathing on her own within twelve hours, learning to eat from a bottle and do all the necessary things that she needed to do to go home. One thing that was very obvious was she was slow to gain weight and certainly, on her own growth curve. The day we were finally able to bring her home she only weighed 3lbs 4ozs.

Once we got her home, she closely monitored by her pediatrician, an at home nurse and an occupational therapist. When she was three months of age, she started seeing a gastroenterologist because she continued to grow at such a slow rate. Around the same time, she began to develop a rash on her cheeks that was persistent and we saw a dermatologist who told us it was eczema and to treat it as such. A few months later I noticed it had begun to spread to hands, backs of her arms and to her knees, we were again told it was to eczema and to treat it as such. Shortly before she was one and half, we sought the opinion of another dermatologist and it was at that appointment they were able to tell us that Lucy had poikiloderma but the cause was unknown and suggested we see a third dermatologist. The very next day we had an appointment with the recommended dermatologist and that was the very first time I heard about Rothmund-Thomson Syndrome. Quickly following that appointment, genetic testing took place and we took a trip to Boston’s Children’s Hospital to see Dr. Stephen Gellis, a pediatric dermatologist, who had treated other RTS patients. He took one look at Lucy and told us he could clinically diagnosis her with RTS. It was about a month later that the genetic results arrived confirming what we had expected, Lucy had Type 2 Rothmund-Thomson Syndrome.

Fast forward to today, Lucy is a happy, healthy, kind and everchanging little girl. Her daily life is pretty typical for a toddler, she loves to play with her friends from school, dress up, read and is always up for an adventure. She is still very small weighing in around twenty-two pounds and wearing size 2t clothing. Lucy like all RTS patients is so unique, her father and I have made it our mission to trust our guts when it comes to her medical care, to advocate for her as best we can, to spread awareness and support the RTS family anyway we possibly can. We are grateful for all that Dr. Wang, Dr. Levy, Ta-Tara, the Kimmel’s and the entire RTS board for what they have done for RTS research for so many years. Having a community of professionals, parents like myself and people I can now call my friends to lean on as we navigate so many unknowns is comforting.

Brianna & Zoey's Story

7 and 2 years old

Told by their mom

We have two beautiful daughters Brianna now 7 years old & Zoey 2 years old.  They were both born with Rothmund-Thomson Syndrome. After having my first pregnancy with my son, now 11 years old. I received double incarcerated hernias which left very thick mesh, which constricted the doctors from properly being able to see Brianna’s slow development in my womb. At 38 weeks the doctors performed a C-Section due to Brianna no longer growing in my stomach. Brianna was born at 3 pounds 9 ounces. As soon as Brianna was born, we could hear the doctors panic as they noticed she was born without a thumb and her other thumb was not jointed. She was very petite and had very small features. Brianna was rushed to the NIC Unit and remained there for 14 days as the doctors tried to diagnose her with all different tests to determine which Syndrome she had! This Syndrome being so rare and not having many resources to get informed with, left us guessing, praying for answers and preventive medicines or cures. Brianna was only missing her thumb at birth and her other thumb not jointed, but at first had hair on her head, eyebrows, eye lashes and no marks on her skin. At about 6 months old Brianna started to develop a skin rash on her cheeks, at first, we were told it was eczema. The rash then began to spread from her ankles up to her thighs and from her cheeks to her arms. It has gotten so bad to where it looks like she was burned. At about a year and ½, Brianna began to lose her eye lashes and eyebrows. After many doctor appointments and creams Brianna was diagnosed with Rothmund-Thomson Syndrome. Brianna has been in and out of hospitals many times with horrible Skin Infections, Pneumonia, Bronchitis, and other sicknesses due to her low immune system. After a few years, I gave birth to our other beautiful daughter Zoey. Throughout the pregnancy I was high risk not knowing if Zoey would also have Rothmund-Thomson syndrome.  Since Brianna was born with it, we knew there was a 1 in 4 chance that Zoey would also be born with it. At birth Zoey was born at 4 pounds 1 ounce. She was born just like Brianna missing 1 thumb and the other thumb not jointed and with small features. At 6 weeks old Zoey was in the hospital with RSV and struggled to breath and was put on an oxygen machine for two weeks. Zoey began to develop signs of Rothmund-Thomson Syndrome much faster than Brianna and was diagnosed at 6 months. Both of my daughters are extremely small. They struggle with many bone deformity, constant skin infections, digestive issues, teeth and nail deformity, dry feet and itchy dry skin, loss of eyebrows, eye lashes and their hair. They have sensitivity to lights and must wear sunglasses and have special lighting throughout the house. Brianna keeps her jacket, hat and sometimes her glasses on daily at school. Both girls have weakness in their bones, and they cannot walk or stand for long periods of time. We use a Keenz Wagon instead of using two wheelchairs at times. The girls must attend therapy to help them adapt to everyday life situations such as being able to open items without having thumbs, writing, zipping zippers, buttoning buttons, opening a bag of chips, etc. Brianna has been tested twice  for Osteosarcoma Cancer, doctors say she has a possible trace but so far, we have been extremely lucky. Both girls will be tested for this at least once a year. We are living with constant fear that at any time they can get Cancer or skin infections that can lead to amputations. Both girls have teeth deformity causing the teeth to be brittle and breaking constantly which cause her a lot of pain and problems eating. Brianna due to her weak teeth deformity has had a lot of work done in her mouth, which is usually done as surgery in the hospital. Zoey has also been struggling a lot with her teeth due to pain while eating. Zoey has speech problems and is not talking at the capacity she should at her age. Zoey struggles to eat and is being tested to see what can help her eat and digest foods. She also has been having a lot of feeding and speech therapy. Both girls are extremely low in vitamin d which effects their bones.  Both girls have occupational therapy. We have noticed that Brianna has difficulty learning and gets upset and anxiety when she is not able to understand and do her schoolwork. We are now looking to see what testing or help we can get for her. The girls are constantly at doctors having testing done and struggling with their daily issues due to their weak bones and constant skin infections. They have been hospitalized many times. The blistering tends to cause so much pain and spread throughout their body causing scaring and many times reappearing in the same spots. They are constantly itching and in pain to the point that they must be covered with special creams and bandages. Due to their allergy to the Sun, they are unable to be outside during the day. When the girls go out, they must be covered in UV clothing, hats UV sunglasses & Zinc. Brianna & Zoey tend to get extremely hot and tend to boil from the inside out and become extremely lethargic. You can touch their skin and feel the heat. We always make sure to keep cool ice packs on us and fans to keep the girls cool when we go out. In our house we keep the AC very low 24 hours a day. Somehow their hands are very cold and many times purple. Rothmund-Thompson Syndrome is such a rare Syndrome without much information that few cases are reported Worldwide. Our girls are our everything, our superhero’s, our strength.

John's Story

26 years old

Told by his mum

This is John Michael Moore. He is now 26. When he was born he had problems right from the start. He was admitted to our local hospital at two weeks old. They couldn’t find out what was wrong and he just got worse and worse, so at 8 weeks he was transferred to great Ormond Street hospital in London. He spent the next three months there. They found out he had microcephalic and he couldn’t tolerate his feed. Gradually over years they found out he couldn’t digest his milk. So he’s been tube fed a special pre digested feed all his life, he’s never eaten food. He also has low immunity and needed immunoglobulin infusions every week. He had these until he was 18, then they changed it to antibiotics everyday instead. He’s had lots of gut problem and needed colonoscopy and endoscopy every 6 months. His top part of his jaw and face didn’t grow as quick as the bottom jaw so had an operation to bring the top jaw forward and cheek implants put in. He also needed his breast plates removing and liposuction. He has had so many breaks in his legs we have lost count. Feels like he spent his whole school life in plaster or boots. Then when he was 20 they thought he had lymphoma and he had a lumbar punch. But didn’t show anything. Then at 21 he was diagnosed with bone cancer in his right leg. He underwent chemo. And lost his right leg below knee. He had sepsis twice while on chemo and had to stop chemo early due to the toxins building up. He was really sick and spent 6 weeks in intensive care. The chemo also damaged his heart so needs medication for the rest of his life. But it’s just another tablet. He is still having his blood checked regular as his T cells are changing that could mean lymphoma in the future.

Even though john has been through so much and is always in pain, he never moans and just accepts everything. He is so matter of fact. He’s so kind and caring. We love him very much and we are so proud of him.

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.

Victoria's Story

24 years old

Shortly after I was born, I was diagnosed with Rothmund-Thomson 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.

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.

Amelie's Story

10 years old

Through 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.

Alyssa's Story

4 years old

Through 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".

Michael's Story

11 years old

Written by his mother

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.

Cisske's Story

2 years old

Told by her parents

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!

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.