Timmy was born in October 1993 and is now 16 years old. Although he has grown into a “Tim” or perhaps a “Timothy” we continue to call him “Timmy.” Natalie was born in November 1997, and is now 12. Both Timmy and Natalie have been diagnosed with Ullrich/Bethlem Congenital Muscular Dystrophy by Dr. Carsten Bonnemann of Children’s Hospital in Philadelphia.
During my pregnancy with Timmy, I noticed that I did not feel the same kind of movements that I did with my first daughter, who is 19 months older than Timmy. The movements were less frequent and also much softer. I never felt any kicking. I mentioned this to the doctor several times and had two high level ultrasounds, but no issues were evident. Still, I knew in my heart that something was not right.
Timmy’s birth was met by a lot of commotion and concerned looks from everyone in the delivery room. Timmy was very “floppy,” although some of his joints, especially his right ankle, were contracted. Just after delivery they hurried Timmy away from us. The obstetrician told us that there were “some issues” that required looking in to, but that we should not worry. They were issues, he said, probably related to “positioning.” We could tell from the look on nurses’ faces that more was going on than what we were being told.
We were moved into a recovery area, and we could see a growing number of doctors accumulating around Timmy in an adjacent examining area. They all had perplexed looks. The physicians started a series of x-rays. Bit by bit more information came to us. One of the doctors speculated that “Timmy had no bones in his hands, but otherwise seemed fairly normal.” They determined that both of his lungs were collapsed.
A geneticist was called in to begin asking us a battery of questions. In the mean time, Timmy was moved to the neonatal ICU and placed in oxygen; his lungs cleared within 24 hours. We were sent home one week later, without any diagnosis but with a clear sense that Timmy had a long road of uncertainty and doctor visits ahead of him.
Timmy was also born with both of his hips dislocated. At the age of three weeks, Timmy found himself in a Pavlik hip harness in an effort to bring his leg bones back into position. After several weeks in the harness, one came back into position, the other required surgery. At three months of age, Timmy received his first surgery – an open reduction to move his left leg bone into his hip socket.
Over the coming months, many doctors evaluated Timmy from a variety of different perspectives and specialties. He had heart ultrasounds, brain ultrasounds, and neurological testing. A skin biopsy was sent to a lab in Seattle, as requested by the geneticist. At three weeks of age, Timmy saw a neurologist at A.I. Dupont Children’s Hospital and he ordered a blood test for muscular dystrophy (serum creatine kinase enzyme test). His levels were not elevated.
A muscle biopsy done at three months of age (during the surgery to relocate his hip) showed nothing conclusive. Also, the tests done at the lab in Seattle, which were testing for Collagen I, II, and III diseases, came back inconclusive. This geneticist was suspicious of a collagen deficiency (something like Ehlers Danlos), but did not ever test for the Collagen VI (Ullrich or Bethlem).
For the first nine months of Timmy’ s life, we continued to meet with a geneticist and had many tests done. Although delayed, Timmy was nevertheless meeting milestones. He started sitting up at 6 months of age, and started crawling at about 10 months. He started walking at about 22 months of age. We still had no formal diagnosis, although doctors indicated that there were more tests that could conceivably be performed. At the same time, however, the doctors had concluded, based on what had already been excluded, that any diagnosis further testing might reveal would only serve to give us a “prognosis” and would not be useful in terms of a therapy.
We discontinued further testing, being content to simply let Timmy’s progress unfold, and so Timmy was given an arbitrary working diagnosis of “arthrogryposis.” He continued to do well with physical therapy and steadily improved until he reached about 10 years of age. At that time, he started having more difficulty climbing stairs, and his ankle tendons gradually started to tighten. A few years later he entered a sustained growth spurt. Timmy grew almost 12 inches in just more than two years. During this period, his pediatric orthopedic doctor at A.I. DuPont Hospital noticed that his trunk strength was getting worse, and some of his joints were getting tighter.
It was at this time that this orthopedic doctor recommended we see the neurologist there, who examined Timmy and told us that she suspected he might have Ullrich/Bethlem muscular dystrophy and set us up to see Dr. Bonnemann at CHOP. For Timmy, the diagnosis of Ullrich/Bethlem CMD finally came at the age of 14 at our first appointment at Children’s Hospital in Philadelphia, a world leader in tracking and working with this rare form of CMD.
The doctors had also been checking Tim’s spine regularly, but during his growth spurt his spine curve went from about 26 degrees to 75 degrees, and the curve needed to be corrected surgically. Tim had his full spine fused (17 vertebrae from his neck to pelvis) in November of 2008. It was a nine hour surgery with a very stressful ending because they had difficulty controlling his bleeding towards the end of the lengthy operation.
Timmy has had numerous other surgeries over the years, such as tendon lengthenings and also surgeries to fix scar tissue that was building up at the site of a previous surgery. All of Timmy’s scars have gone keloid, and the build up of scar tissue at surgery sites is always an additional consideration – not for cosmetic reasons, but for reasons related to the ultimate outcomes of the surgeries. We have tried to strike the right balance between helping Timmy’s mobility and undermining it with an overly aggressive approach to surgery. At 16, Timmy currently can do some steps on his own while holding on to a railing, but requires “spotting” for safety, and he walks around the house and outside on flat surfaces, but only for short distances.
We are very thankful to finally have a diagnosis and to be working with such a great team of doctors, with the most in-depth knowledge and research going on for Timmy’s muscular dystrophy.
My pregnancy with Natalie progressed normally, and her movements were stronger that Timmy’s; however, they were still not like the movements I remembered with my first pregnancy. When Natalie was born, she looked healthy and was placed with me right away. After the doctor left the room, and the nurses were attending to our needs, I noticed that her breaths were very quick and shallow.
My pre-delivery apprehensions were realized. The sound of her breathing was familiar to me. I knew immediately that her lungs were collapsed. The nurse assured me that little Natalie was fine. My heart wanted to believer her, but my experience told me otherwise. I called in a different nurse, and she checked Natalie more closely. Both of Natalie’s lungs were collapsed, and they whisked her away to the ICU for oxygen.
I asked them to check her hips. Both were dislocated. Natalie was also “floppy,” but not to the same extent that Timmy was; moreover, none of Natalie’s joints were contracted.
Timmy was age 4 when Natalie entered the world with almost the same set of problems. The diagnosis for their condition was still 10 years away, but I knew that whatever the condition or “syndrome” was, both Timmy and Natalie had the same thing. Natalie went in for hip surgery at five months of age, and the doctor was able to get her hips to go back into place without doing the planned open reduction surgery. She was in a hip spica body cast for 6 months. Mom and dad became world class cast-care experts.
Natalie was also delayed in achieving milestones. At about 20 months of age, she started walking. At a follow-up appointment to check on her hips, the doctors were not happy with the shape of her hip sockets, and she needed corrective surgery. The procedure required was called a “Pemberton osteotemy,” where they insert a bone wedge into the hip just above the hip socket to correct the its shape by giving it more curve.
Since then, Natalie has not needed any more surgeries. We took her to see Dr. Bonnemann at Children’s Hospital this fall, after we had obtained a firm diagnosis for Tim. We knew that Natalie had the same disease, but was just at a different place on the spectrum of symptoms. We ended up doing genetic testing for Tim, and plan to have it done for Natalie as well.
During the visit, Dr. Bonnemann noticed that Natalie’s right heel cord tendon was tight, causing her to lose some range of motion. She had serial casting done, and it was successful. She now wears a brace at night, and during the day when she is at home. We have her spine checked every four to six months, and so far things look great. Still, Natalie has not yet experienced a growth spurt anywhere near the magnitude of Timmy’s. She is short for her age, and we are waiting to see if she has a growth spurt and whether it will impact her spine in the same dramatic way that it did Timmy’s.
At age 12, Natalie is able to both walk and run, although slowly. She does not have trouble on stairs. She also rides a two-wheeler. Her presentation of symptoms is much milder than Timmy’s. Both children are exceptionally smart for their ages. Natalie is a mother’s helper for a neighbor who has a young child with a rare brain disorder. This child just loves Natalie and responds with a big smile as soon as he sees her. Natalie helps out with the child’s intensive patterning and physical therapy regimen.
At 16, Timmy, who is home schooled along with his three sisters and brother, has already completed all his high school level college preparatory work and has successfully completed the SAT tests. Although he is 1-2 years ahead of his age level academically, we are not anxious to for him to apply to early college admission. Next year we will probably enroll Timmy in community college classes that will either give him advanced placement credits or a nice head start with college-level courses. He currently wants to enter college as a Computer Science major.
We attended the family conference at CHOP in 2008, but were not able to attend this year. We are thankful for the team at CHOP and also for the volunteers who have put together Cure CMD’s wonderful organization/website. It has helped us to learn more through other’s experiences with Ullrich/Bethlem CMD. We live in Delaware, and have built a handicapped-accessible addition onto our home. We would welcome a visit from any local families!