Everything You Never Knew About Ullrich

Ask anyone if they’ve heard of muscular dystrophy and you’re likely to hear one of two things, “isn’t that the same as MS?” and “Oh yeah Duchene right?”. The answer to both of those questions is…not exactly. There are forty-three different hereditary and mutated forms of muscular dystrophy in existence right now. There are some forms so rare they don’t even qualify yet and their host-bodies are lumped into categories like Congenital Muscular Dystrophy. One type of CMD on the rise in studies is Ullrich Myopathy.

Ullrich is a congenital muscle disease that was first diagnosed seventy-five years ago. For the better part of those seventy-five years the disease went unstudied. Now, in 2012, there are one hundred plus cases in the world. Three years a case study began in Maryland at the National Institutes of Health, bringing together children and their families to document the progression of the disease in order to develop a drug to slow the effects. A few years before that a conference started in Philadelphia to educate parents whose children were born with Ullrich. The conference and study has ballooned into a major event, taking in general cases of CMD now instead of just Ullrich.

Disease is an afflicting word and the idea of a progressive disease is even worse. Commonly people imagine young children who spend their lives in hospitals, who can’t eat or speak without assistance, who can’t communicate with others, who will probably die before they reach twenty-one. Disease is scary to most but that is only because they do not understand it.

Ullrich effects the collagen six in a persons body. It causes the muscles to be small and weak, the joints to be lax in the beginning and then tight as the child grows older. Children who have Ullrich either never walk or stop walking by the time they are seven or eight. (Those who do walk in the beginning have much difficulty and cannot sustain walking for long periods of time). Ullrich is not necessarily an inherited disease. There are cases of Ullrich that are mutations in the body though both parents are healthy. In some cases of mutated genes only one child in the family will be effected while in other cases all the children can be.

When a baby with Ullrich is first born everything appears to be fine. The baby is healthy and normal, there are no distinct physical abnormalities or signs of trouble internally. More often then not the child with have “frog” feet, in which their feet are bent completely up to meet their ankles, but that doesn’t last past birthing. It isn’t until a baby begins to have physical developmental delays that parents notice a significant problem. Children with Ullrich cannot hold their heads up on their own or sit up on their own by the time they are supposed too.

Other developmental delays that occur with Ullrich are the inability to crawl or stand without support. Because of the laxity in the joints some children experience dysplasia in their hips. Often if they are young enough a doctor will cast the hips to lock the joints back into place. Depending on age the area may go untreated because there is no need to put the hip in place when they are in a chair and it will likely come back out.

There are other diseases that can come because of Ullrich. Osteoporosis, Scoliosis, and general lung failure are among them. Osteoporosis is a disease commonly found in older men and women, it is the weakening of the bones in a persons body due to a lack of vitamin. Scoliosis is a disease effecting the spine. Scoliosis causes the spine to curve. Commonly the treatment for Scoliosis is surgery in which they insert a rod to erect the spine. This surgery usually takes place when the children are thirteen but can be performed sooner depending on the severity of the curve. Lung failure is treated with specific machines that open the air passages in the body. (Lung failure or problems breathing can be caused by Scoliosis because the curve of the spine presses the ribcage into the lungs.) Machines helpful in breathing are Bi-pap, or C-pap for sleeping, Cough Assist for daily use, and Sip ventilation for daily use.

A Bi-pap or C-pap give the child a breath at an exact rate to help while the child is sleeping. Sometimes, in other cases, oxygen can be hooked up to the machines. Children with Ullrich cannot take oxygen unless there is an emergency because they retain Carbon Dioxide. A sip ventilation machine is similar to a bi-pap. The machine has a long tube with a mouth piece and allows the user to take breathes when needed. Commonly sips are seen with older boys who have Duchene. A cough assist machine actually forces a child to breath in and out. (It’s quite similar to sucking on a vacuum.)

Cognitively children with Ullrich are at the same or higher level. Despite their developmental delays they can communicate as easily as any normal child. A few have trouble swallowing, due to muscle weakness, and are required to have G-tubes, but otherwise these children function fine in normal atmospheres.

There is a lot of equipment, aside from breathing machines and wheelchairs, that children require. Most children have M-A-F-Os or K-A-F-Os that they wear on their legs to help stabilize their ankles. As some get older their feet can become windswept. There are also knee immobilizers, gate trainers, standers, and back braces that help. Gate trainers and standers are typically used to help children walk or stand without the assistance of another person. Physical therapists, nurses, and aides are usually needed to help children at home and at school.

There are different types of therapy offered to children who have Ullrich. Occupational therapy helps children develop strength to dress themselves, eat by themselves, and do other practical things. Physical therapy is used to help build strength to maintain walking or kneeling (most children with Ullrich actually knee walk when they are small). PT also offers a chance for parents to learn different equipment that can help their children. Pool therapy is the final type of therapy offered. Pool therapy is similar to PT, though it builds strength while the child is in the water. This is great for children with Ullrich because it offers many of them the ability to walk.

The life span for a person with Ullrich now is believed to be about forty to fifty years.

In 2005 my sister Gillian was diagnosed with Ullrich Congenital Muscular Dystrophy. She was four years old when the diagnosis was made. She is now thirteen years old and preparing to go into eighth grade. In 2007 she was hospitalized with pneumonia and influenza B. In 2008 she had spinal fusion to fix her Scoliosis, which had reached a curvature of 110 degrees. She now has a rod that reaches from T2 to her pelvis. In 2009 she spent two months in rehab to help regain some of her movement and strength that was effected because of surgery. She has bi-pap at night, sip ventilation during the day, and cough assist as needed. She is currently being fitted for her third wheelchair, she got her first when she was five years old.

My sister goes to a normal school though she has an aide to assist her in writing notes and handing things in to the teacher. She performed in the school play last year and she is currently participating in a singing contest at a theatre in our area.

For more information about the disease and other CMD's go to: CureCMD

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