After 8 years of marriage Claire’s arrival was very joyous. The first Grandchild on my side of the family and first girl in 35 years on the other, she was long anticipated. She is very strong-willed, caring, and compassionate. Claire has a strong faith in God and is “a party waiting to happen.” She is one of the most outgoing and spirited persons I know.
Claire’s birth was long and forceps were used because she became “stuck”. When she was born she had a deep red, purple birthmark on the left side of her neck; it had a different texture than most birthmarks. She was also very swollen on the left side of her face and neck. In addition she had small hard bumps in the nape of her neck and a lighter colored birthmark on the back of her skull. The doctors assured us that it was just “birth trauma and normal stork bites” and would gradually resolve itself. The swelling slowly went down but the left side of her face remained slightly asymmetrical. Claire was very healthy for the first year of life, but there were periods of time when she would become very fussy. During these times she would cry easily and was clingy. Episodes would last anywhere from a few hours to a few days. Again we were assured by doctors that she was fine and she just was a colicky baby.
When she was one, she got her first “ear infection.” She had been abruptly weaned from breast-feeding due to my emergency surgery. Within 24 hours she had a temperature and was holding the left side of her face crying. This started a pattern of ear and facial pain that often accompanied fevers. The doctor would frequently report no signs of infection in the ear, but would give her antibiotics anyway. The pain would resolve, but not for more then a few weeks or a few months at the longest. Finally, she was given ear tubes. During this time she also began to have nasal drainage that was almost constant between antibiotic treatments. All the allergy tests came back normal. We tried changing her diet, chiropractic treatments, and changing the environment – all with no change. We were assured that some kids just have a lot of infections.
When Claire was 4 years old, the daycare had a hearing screening and found she had profound hearing loss in the left ear. The ENT confirmed the hearing loss, but was unsure what the cause had been, as it was not in the typical range of loss that ear tubes sometimes cause from scarring. By that time the tubes had been replaced numerous times, but the ear pain continued. We were at a loss. We knew something was wrong, but all the doctors seemed to write us off as hysterical parents.
In November of 2003 Claire was attending kindergarten and again appeared to have an ear/sinus infection. I took Claire to the doctor because she was having pain and sensitivity to touch on the left side of her face and the area was beginning to swell. Claire had also started to have vertigo (dizziness) to the point of not being able to stand. She had begun to vomit whenever she stood for long periods. There was a very different feel this time and I was fearful. The receptionist at the doctor’s office indicated she felt I was being dramatic and slowed her pace in response to my sense of urgency. Suddenly, Claire vomited all over the woman and her desk. After that they were very attentive to us, but told us it was a virus and there was no sign of infection. At this point the doctor was becoming resistant to giving her antibiotics unless there was clear evidence of infection.
The next day Claire’s temperature was up to 105 and the left side of her face was very swollen. We rushed her to the ER. They gave her an IV and took blood work. They diagnosed her with a skin infection, put her on antibiotics and sent her home. Within 4 hours her temperature was still climbing and she was not orientated. She could not answer even simple questions. We rushed her back to the ER. Her white blood cell count had nearly tripled in the 4 hours. She was hospitalized and put on intravenous antibiotics and shots every few hours. After the infection was under control they completed a CAT scan, expecting to find a blocked gland in her neck. Instead, we were shown images of her jaw with abnormally shaped bone and empty, hollow spots. A bone biopsy was completed and Claire was diagnosed with Fibrous Dysplasia (FD). After reading about FD we felt that it really did not explain all of Claire’s symptoms. After we met with the endocrinologist we were told the she had McCune-Albright Syndrome (MAS). We were told to be prepared for Claire to start showing signs of early puberty. After 4 years this never happened and we again began to question if this was a correct diagnosis.
MAS has a wonderful support organization called The Magic Foundation that helps families with kids with rare growth-related disorders. They have a National Convention every year in Chicago where the kids get to meet each other, but more importantly, the national experts speak. Dr. Michael Collins is the leading researcher and expert on MAS/FD at the NIH (National Institutes of Health). During the sessions we began to ask questions and it became apparent to Dr. Collins that Claire did not fit the typical presentation of FD or MAS. He reviewed Claire’s records and sent her pathology slides on to be reviewed at the Department of Defense. Four years to the day from her original diagnosis Dr. Collins called and said it most likely was Angiomatosis of the Bone. He agreed to network and find out where we should go to be seen. For over a week I attempted to search the web for “angiomatosis of the bone” with a wide arrange of results. Then I came upon an article about lymphangiomatosis and it was not a very positive. Most of the patients in the paper had not survived. In an instant, our world fell apart; lymphangiomatosis is a horrible disease. I seemed to be in a fog for the next few weeks until I found the LGD Alliance’s website and spoke to its founder Jana Sheets, herself a long term survivor of lymphagiomatosis. This discovery reassured me that Claire could survive this disease and that there were people at work to unite those affected by lymphangiomatosis.
Dr. Collin’s referrals came back from the lymphatic malformation Centers in Cincinnati and Boston. We were able to find a Vascular Anomalies Center in Milwaukee and there Claire under went another biopsy in March 2008. This time bone samples of the chin and the right forearm were taken which confirmed the diagnosis of lymphangiomatosis. Claire’s involvement is currently in the left side of the skull and face, skull base (including a Chiari Type 1 malformation) most of the vertebra, ribs, hip, forearm, the right thumb, right femur spleen, and mesentery of the right lower abdomen. Claire continues to have pain episodes in her face, ear, and sinus. They accompany any type of cold or flu and other times are just sporadic with or without signs of infection. They usually last from a few days to a few weeks. We have also noticed that when the pain recedes it sometimes is accompanied by a clear fluid that drains from her left ear. She also has developed chronic bladder (sometimes kidney) infections.
One of the hardest parts of the new diagnosis for Claire has been the loss or her MAGIC family. While we are still friends with many we met, she lost her sense of belonging and knowing others facing the same challenges she experiences. The greatest loss for my husband and I with the new diagnosis is the loss of having a doctor who is a champion for our daughter and other children facing lymphangiomatosis. At a recent patient conference we watched Dr. Collins speak to his FD/MAS patients. It is easy to see the love and concern he has for them. He has dedicated his whole career to helping these kids, and to prevent future generations of children from becoming affected. One girl at the conference spoke about her life with MAS. You could see the pride in Dr. Collins face when she spoke about what she had been able to accomplish; it was as if he was watching one of his own children. Thanks to the study by Dr. Collins and his associates, parents now can be told the typical course of the disease; he was able to standardize annual testing so doctors with no experience with MAS/FD can competently treat them. This is what I am most concerned about: what doctor will care about my daughter now? Who can tell me what the typical course of the disease is? What is the percentage of patients who develop pulmonary or respiratory involvement? Or even how many of these brave kids are out there? Who do I tell my daughter is fighting for her? How can any research begin, or how can we get an accurate registry of patients when the medical community cannot even agree on the terminology or what to call this disease? Is there anyone in the medical community that will hear our cries for help?
We feel very blessed, as I have talked to other parents of children who are currently experiencing life threatening symptoms. We will continue to take each day as it comes and pray that God will provide the people needed to learn more about this disease, and to eventually find a cure for the next generation. I look forward to a future where Claire can again feel like she has a “family” of others just like her. Where patients and families can receive a timely, clear, and accurate diagnosis. Where parents can find accurate information about what to expect. Where there comes a day when there are standardized treatment recommendations.
I will continue to pray for a medical champion to lead us in research, education, and to direct us toward a cure. We pray that God will provide the funding needed. I am so thankful for the LGD Alliance; this is the first step in providing hope for families touched by lymphangiomatosis.