If you ask Robyn what her wish would be, if she could just have one, she would still give the same answer she gave 2 years ago when Channel 2 did a vignette on her and our family for the Jerry Lewis Telethon. Her wish is that she and all the kids with muscular dystrophy around the world would be able to walk again. Yet despite the fact that that hasn’t happened yet or may not happen again for her, Robyn still finds such joy in day to day life. She is an amazing, energetic, compassionate, fun-loving little girl, who has a smile that lights up a room. She loves to draw works of art like her big sister Danielle, to sing, and dance to Hannah Montana. She has this amazing patience with the rest of us around her, who don’t always understand what it’s like to be in her shoes or when we forget how much harder things might be for her and we say or do something careless. She has patience for the kid at school who makes fun of her or won’t wait for her to catch up on the playground, or who doesn’t want to play with her because she can’t walk like them. She still tries to be their friend and she doesn’t give up on getting the attention she needs or wants. Although at times she gets sad like anyone would, she finds a way to somehow rise above it and come around again, much quicker than I, her mom, ever would. She makes you think about the world and the place we have in it, much more differently than before you knew her. She reminds us that there are more important things to worry about than a lost ipod, or the guy who cut me off this morning! She makes me see things more with a “cup half full” frame of mind. She has taught me that complaining about all I don’t have or can’t fix will do less than focusing on what I can change. She has taught me to make a difference, if I just try. Like Gandhi said, “Be the change you wish to see in the world”. My beautiful Robyn. I can’t imagine my world without her.
Robyn was born in at Santa Teresa Kaiser with low muscle tone at birth. There were no problems with the pregnancy that stood out for me. It had been 8 years since my first daughter, but it all seemed normal and she met her kick count quotas, etc. Up until I delivered, we had no indication that she was under stress. She did however, experience stress during the delivery believed to be secondary to the fact that I pushed her out “too quickly”. She had a bruised face, some burst vessels in both eyes and swelling in both areas of her head and in the back. These symptoms all cleared after about 1.5 to 2 weeks.
Right after she was born, she was taken away for many tests and we stayed in the hospital for an extra 3 days while more were being done because of her low tone. Her CT scan came back negative, her body x-rays were okay, and her blood work was all okay. She was seen during those 3 days by her new pediatrician, her neurologist and the geneticist. They were extremely proactive and immediately responsive. We went home and all was fine…other than her low tone/floppiness and very hyper-mobile joints. Her wrists could bend back both ways, her fingers bent back far beyond what they should and always have seemed to me to not have any bone in them at all. Very “squishy”. I kept telling her doctor that her fingers didn’t feel right. She showed me Robyn’s X-rays and assured me that there were bones there. Her feet were pointed upward toward her shins when she came out, but slowly went to a normal position within a couple days. She had no problems with neck control or feeding/sucking. We continued to meet with her doctors every 2 to 3 months. There were no changes. She was progressing fine and meeting all of her milestones. Her doctors felt we would know more after she turned a year old and had milestones could be reassessed. Robyn was labeled as hypotonia which I found was basically a diagnosis given when there were no other problems but the tone issue.
She was able to sit on her own by the end of 7 months and was able to pull herself up into a kneeling and then standing position (only from our coffee table if sitting next to it) by the end of 13 months. This was a struggle for her and she would use her chin and head on the coffee table to get herself up and then struggle with her arms to push up further. She couldn’t use her hands to support her because of the extreme flexibility of her wrists.
She never crawled. When she attempted to crawl, she sort of pushed her head along on the ground but of course couldn’t see where she was going and because of her flexibility in her wrists, couldn’t really hold herself up enough. Crawling was not an option she tried much at all.
By the end of 16 months, she could walk some. Her ability to walk was all very wonderful for us, as you can imagine, because of the worry that your children won’t meet their milestones and that something “wrong” you’ve been hiding from, comes true. However, after 18 months we realized that it was not as we had hoped. She was not progressing any further and she didn’t improve with her ability to walk more steadily and normally. She walked with her knees slightly bent and apart for balance from front to back and she would hunch up her shoulders for additional balance. Unfortunately though, by 18 months she could no longer get into a sitting position from the floor on her own, nor could she pull up from a sitting to a kneeling/standing position from the coffee table any more due to her increased height and weight. If she was lying on the floor, we had to sit her up. And if she wanted to stand up, we had to pick her up and stand her on her own two feet for her. She had no transitioning strength or skills, anymore. These skills came and went been in 2 to 3 months. This is where we hit a standstill and knew there was something more to look at.
Robyn started seeing a physical therapist at Kaiser who was very proactive. I will always be very thankful to this day for her encouragement and guidance. Our doctors were still working on the fact that Robyn was a “mystery” and probably just hypotonic. She could tell I was very much trying to find out more and do all I could for Robyn, always up late nights doing research and then asking her opinions, etc. Finally one day she told me that she wasn’t allowed to discuss this with me, but that she really thought I was looking in the wrong direction and that I should look at muscle diseases. As much as I didn’t want to hear that, I was so thankful to have something more tangible to look for. We decided to have Robyn get a muscle biopsy at age 2.5 and within a week, Stanford could tell it was muscular dystrophy, but more specifically collagen related.
However, they still couldn’t give actual answers. They said it could be something close to Bethlem myopathy or Ullrich (UCMD) and that the two seemed closely related but one was worse than the other. They thought at first Robyn leaned more toward Bethlem because she was not as bad as a lot of people they knew about with Ullrich (and back then even in 2004, that was maybe, all of 40-50 people they had information on). They thought there was a doctor in DC doing research on Bethlem/UCMD, so we sent off her muscle and skin samples and hoped to hear within a month or so how it was going.
After a month of waiting I decided to try the research center on my own and set up a conference call only to find out that that doctor hadn’t been doing any research on UCMD for a few years. Our daughter’s sample/biopsy would stay there in a freezer until another opportunity arose. I was extremely disappointed and even more so, livid, that Stanford would send Robyn’s biopsy off without confirming anything first. And to hear that we might not ever know more was unacceptable. I did more research, sent an email to England, to a Dr. Lampe and within 2 days, had a reply from her telling me about Dr. Bonnemann at the Children’s Hospital of Philadelphia. I immediately contacted him and arranged for Robyn’s biopsy to be sent to him and within a month I had Robyn’s diagnosis. (And a week later, after finding him on my own, her geneticist called and said “Good news, we found someone researching Ullrich…”)
Robyn continued to walk with the same gait up until just about 4 years old. She could play and be active for 20 to 30 minutes at a time and then would complain about her legs hurting. Sometimes the pain was in her knee area or pelvic area at the top of her thighs. I could usually tell when she was getting tired because she limped more, was clumsier and walked more slowly. She wasn’t a steady walker. She had all the confidence in the world, in herself, but nonetheless, fell very easily. If she looked up or down, she would fall. If she was carrying a toy that was too heavy, she’d fall. If she got bumped or ran into anything even slightly, she would go over. She would trip over small area rugs as she couldn’t lift her feet more than an inch of the floor. Because of this, she’s never even known the feeling of changing levels or having to pay attention to curbs when she walked, because she’s never been able to go up a step or ladder or climb a curb at all. No jumping, no skipping, no running. Just not able to. And when she fell, she fell hard. She had no protective abilities at all, because of the lack of strength in her shoulders and upper arms. It was like a tree falling fast and hard to the ground and was very scary.
After the first few falls, we decided she was not safe walking on any hard surfaces. The kitchen and bathrooms were off limits to her in our home and we kept them gated off. Outside was out of the question. She had to hold our hands, be in a walker that surrounded her on all sides or be in her stroller. On March 5th, 2006, Robyn told me her knee was hurting and she couldn’t walk. We’d try to keep putting her onto her feet, but she would cry and wouldn’t straighten her right leg and complained of knee pain. She didn’t fall or hurt it that we knew of. We had been at an MDA lock-up fundraiser just that day and she had walked around a lot in her walker, but nothing out of the ordinary. I happened to have had an appointment that week to see a new orthopedic doctor because I was very unhappy with our current one and his lack of initiative with things for her. The timing of the appointment was good. The new orthopedist thought something was loose or torn in her meniscus and scheduled an outpatient minor arthroscopic surgery for April 6th. He did some repairs and all went well. The recovery was supposed to be quick with Robyn returning to normalcy as she felt comfortable with. We borrowed a manual wheelchair with elevating leg rests from the MDA for her recovery time.
Robyn never walked again after her knee surgery and has never been able to straighten her right leg since then. After just 2 months of not walking, she completely lost her ability to bear weight or hold her body up on her own. We couldn’t dress her or anything, without lying her down. It was devastating and completely unexpected that at age 4 she would never walk again…or even be able to stand up. I kept trying anything I could. Researching things, trying to get the orthopedist to find out what was wrong with the knee and why she wouldn’t straighten it. The orthopedist kept saying to give it time. We didn’t have time. If she couldn’t straighten her legs, she couldn’t stand right not even in a stander. Without the ability to stand in a stander, her feet and spine would not get the benefit of weight bearing.
After about 4 months, the orthopedist finally agreed with the persistence of our physical therapist to try serial casting for her. However, Robyn’s knee could not get past 20 degrees. It was like her knee was locked. I could tell it wasn’t because her muscles had contracted or shortened in her leg. It felt like something was locking in her knee, like it was keeping it from going further. Her physical therapist and her neuromuscular specialist at UCSF both also agreed. It wasn’t her muscles. It was her knee.
After another couple months, Robyn’s orthopedist finally agreed to try to manipulate her knee while having her under a general anesthesia to determine if taking her mind out of the picture and fear of straightening it would help and whether with more manipulation he could figure out what the problem was. He decided I was right. Her knee contracture was not due to muscle shortening but her joint capsule had contracted and was not allowing it to get the normal range. Again, by then, it was too late. Robyn has been non-ambulatory and in a powered wheelchair since then. She can move her legs up and down some and from side to side, while sitting in her chair, but not a lot. She’s like a 75 lb. baby that needs us to do everything physical for her, except for sitting, once we get her into a sitting position.
Robyn has always been very weak in her upper back and shoulder area. Until she was 3, if she tried really hard, she could stretch her arms just barely above her head, but would rarely straighten them totally. She had to really think about making the effort. Otherwise her idea of doing so is just having her hands up by her ears like she’s being held up. Today, at age 6 (since age 4) her weakness has progressed significantly and she can’t lift her arms at all and her hands just come up near her shoulders. When eating, she has to have her elbows up on the table and she brings her mouth down to the food now.
Until the age of 4, Robyn couldn’t pull herself up if she bent over half way, across a table or my arms. She did not have the trunk strength to lift back up easily. At age 6 now, she seems to be doing that a bit better. If she’s bent over to the front of herself while sitting, she can get back up which allows her to pick things up from her foot rest if she drops something. However, she’s never been able to and still can’t get back up if she falls to the side. This happens if she is sitting on the couch. And if she leans to one side, even more than a couple inches, she falls over.
Robyn’s fingers and wrists are still very flexible. She can’t push the doorbell or many buttons at all, because her fingers and thumbs bend back. However, her fine motor development has always been good despite this. She holds a pen or pencil just like I do. She can thread beads on a string, and she was always able to pick up small items like raisins and turn the pages of a book. Her tensile strength has been weak. She never grabbed fingers tightly as a baby and still can’t grasp things tightly. She cannot hold herself up on a bar or pole and things can be taken out of her hands very easily. She just can’t squeeze, not even a lotion tube.
Robyn’s feet have always been very squishy/very flat. When she walked, our physical therapist told us not to let her walk without shoes on, because her feet were so “soft and unformed”. They are to this day, very, very tender. If we squeeze her feet, they hurt. If I try to give them a massage or hold pressure points, they hurt. If we bump her foot on anything, it’s very painful for her. This can cause her foot to be so sore and tender for weeks where just touching it, putting a sock on it, anything causes her to cry in pain. It’s very strange. We’ve taken her for many x-rays and bone scans after we thought she injured it and because of the concern of low bone density, but they never see anything. We have to be so careful when doing toileting and transfers, not to bump her feet now, or get them caught or bent. We got orthotics for her when she was 2, but because they had made them to go up her entire calf, just below her knee, they made her gait harder and she fell more. As a result, she didn’t like them. I forgot to mention that she always kept her right knee bent more when standing still and playing with her left leg fully straightened and a little hyper-extended. The orthotist thought the higher orthotic would help her keep her right leg straighter, but it made it harder. I think she needed her legs in that position for balance. However, having her knee bent all the time also may have had something to do with the meniscus which led to her knee pain that had and surgery. The same leg, the one we still cannot get straight.
In May 2004, just after Robyn turned 2, she fell and hit her temporal lobe and had a seizure. At the time, we didn’t know it was a seizure. It wasn’t a hard fall but when we picked her up, her body was totally limp and her eyes rolled back in her head. We thought we were losing her. I took her to the emergency room and after 3 hours of being there and no sign of a concussion, we went home. In late June while on vacation in New York, she fell again and hit the same area and it happened again. We called 911 and were taken to the local hospital. They observed her and checked her out right away. I told them about the other occurrence and one of the doctors told me later on before we left, that we should keep a close eye on her, because it sounded like it could be a seizure. I had never known there were those kind of seizures other than the ones where people shake. But it made sense to me. Three days later, it happened again after a small fall over sideways from a sitting position, not hard at all, but in the temporal lobe and we went back to that hospital (we were still in New York). This time they did a CT scan. That was fine. We immediately called our neurologist in California and he started her on carbamazepine for seizures 3 times a day and booked her an appointment for when we returned. She had 2 more seizures within a couple months. I asked to reduce her dosage. We did an MRI with her under general anesthesia which was normal. She’s never had seizures from hitting her head anywhere else and she’s hit it a lot. Throughout all this I attempted to get her a soft protective helmet (see link for the one we got: http://www.plument.com/protectacap.htm ) because of her constant falls, hurting herself and the seizures. Unfortunately, Kaiser would not cover it for her diagnosis! It didn’t help that we still didn’t have a diagnosis for her at that time. I amazes me to this day that without a LABEL for something, no one wants to help or do anything for your child even though they have signs of a serious problem and are suffering nonetheless. It’s not right! In November, just after her muscle biopsy, I decided to take her off the seizure medication. We had purchased a helmet on our own and were being extra careful with her to avoid her falling as often. I didn’t like the idea of medicating her. It was obvious that her seizures only occurred when hitting her head in one location. The seizures were a result of her falling and did not happen on their own.
When Robyn was younger, she complained when doing therapy on a cylinder bolster that she was “choking”. When she cried more than usual (tantrum) she would hold her throat and say she was choking. I thought this was odd. So we didn’t do much tummy time and she’s learned not to get overly worked up when upset. Now, at age 6 – she’s been hospitalized 3 times in the past 3 years, with pneumonia. The last time back in February, 2008 was very scary. She had a cough for one day and seemed a little lethargic, so I figured it was time to go see the doctor. Her doctor said she heard a little small amount of noise in her lungs. We did an X-ray and the pneumonia looked very, very minor. It was a tiny couple white spots on the X-ray. The doctor sent us home, told us to give Robyn an antibiotic, prop her up at bedtime and use the humidifier. The next day, Robyn was very tired. She kept doing this little cough like noise constantly. I’m not exaggerating when I say after 2 hours, she was still making the noise and I was getting very annoyed. Finally, when I made myself sit down with her and try to get her to control it, to calm herself down, I realized that she was probably trying to catch her breath, not doing little coughs. I immediately took her to the emergency room and had her put on oxygen. That night, they transferred us to a different hospital and said her right lung was completely collapsed.
It took 5 days of trying different things with Robyn to find something that started working on getting it opened up again and draining. We were trying to do percussions and respiratory therapy during the first week, but it wasn’t really working. On day 4, they wanted to try a cough assist device but Robyn was deathly afraid of the mask and thought it was going to smother her. Robyn had always been the best patient, never afraid, always the little fighter. But this time was different. Every 8 hours, the respiratory therapists would come back (always different because their shifts were 8 hours) and we’d try to get her to do it and she wouldn’t. For 5 days, she sat there, using only her left side to laugh and talk and play. The doctors kept pulling me aside saying they didn’t know how much longer she would be able to go on just using one lung. We were possibly going to have to go in and get it inflated with help and/or intubate her. I did not want that. So on that day, when the new therapist came in, I asked him if he was against holding her down for me and restraining her so I could hold the mask on her face and show her that the cough assist would help her not hurt her. He was willing, and it worked. After another day of holding her down and forcing her to do it, she finally was doing it on her own and willingly. By day 9, we were released from the hospital and she didn’t need oxygen anymore. It was the scariest time for us. I get so paranoid now every time she has a cough and I wonder if she’s always going to be more susceptible to a collapsed lung, once that’s happened. We have a cough assist at home though and start using it at the earliest sign of a cold. We just recently got the vest too, so she does that every morning for 12 minutes as a precautionary measure. So far, so good.
Robyn is very, very bright and far ahead of herself. Many people would compare her talking and speech clarity and even personality to that of a 4-5 year old when she was 2. At that age, she spoke in full sentences and could have a full conversation with you! She has always had a great photographic memory. She’s in first grade now and doing very well still. She’s at the 2nd grade reading level and a little ahead of her peers in math mostly in the speed with which she’s learning it.
She had grey patches on the whites of her eyes for the first 4 years. I don’t know if that’s important or not. She doesn’t appear to have eyesight or hearing problems to date.
She’s always had a very “high” arched palate in the roof of her mouth. It seems to curve up very deep into her nasal area. It hasn’t seemed to cause any problems, nor concern to anyone, but it’s different and noticeable. Her teeth don’t seem all normal to me but that is always questionable in kids her age. I’d have to just show you a photo to explain. Today, her arch/palate is a little less high and seems more normal. Her adenoids and tonsils have gotten very large in the past year and we are having them removed in March 2009. Her first sleep study this past November did show signs of obstruction with her oxygen levels were dropping during her REM sleep cycles. Hopefully this will help.
She has since birth had a small bumpy patch of skin on both calves (front shin area) just about 1.5″ x 2″ in size that never goes away. It reminds me of goose bumps. It never bothers her. Now after knowing more about Ullrich and Bethlem, I recognize it as one of the common findings in this condition.
Her incision from her surgeries on her thigh and knee (about 1.5 inches long) healed very quickly. The scars are typical for people who have a collagen disorder (Bethlem or Ullrich). Her scars are raised up and grey, transparent part way through. This scar formation is called a keloid.
In the past, I worried that Robyn had a higher tolerance and was less able to sense pain. She began walking around 6 to 7 hours after her first biopsy surgery and each day from then on, never complaining about it hurting. She would begin to limp more and I would ask her about it, but she would never admit it hurt, unless it was touched. When she would fall, when younger, and her legs or arms got bent in an awkward position, she didn’t seem to be bothered. Yet, other times, things would hurt and cause her to cry…as one would expect.
So that’s the rundown on Robyn’s body and UCMD (Ullrich congenital muscular dystrophy) in a nutshell, as of 2/23/09.
To communicate with us or for more updates on Robyn, please feel free to visit us at: www.handshelpingrobyn.net and use the contact page.