January 2006 is the time when my husband and I decided to join the ranks of thousands waiting to adopt from China. We had become aware of the process of adoption from China through a work colleague and after years of infertility frustration, we decided that this was the right decision for us. One phone call to an recommended Social Worker got us on our way.
After the paper chase for documents, fingerprinting, letters of reference and house cleaning for all of the social work visits, we finally had our file sent to China on June 16, 2006. The famous "log in date" was June 22, 2006. That date is branded in my memory forever and I can call it up without thought, whereas my birthdate causes a second of recall hesitation. We expected the referral for our lovely raven haired daughter within two years. The initial wait was tedious but accepted as a necessary evil. The sad reality saw our wait time extending on to three, four and then five long years.
Anticipating motherhood at the age of fifty-two was unusual but as time passed it became more apparent that if this were to happen at all, I would become a Mom at fifty-five! I passed the time of waiting by planning what my life would be like with our daughter. I had always expected to be a Mother, as the relationship I had with my own Mother was wonderful. After two years of waiting I started a blog with letters to our daughter "Mary". My written words were just snippets of fleeting thoughts to capture for future reference just in case my Mary ever asked me how I passed the time. Much like a biological pregnancy my thoughts of the arrival of our child were filled with elation and the realization of the enormous responsibility of such an undertaking. This child became as real to me as the beating of my heart.
At long last, just twenty-one days short of five years of waiting, the call came. Blind sided. I still recall the words as they came over the phone "This is most unusual, it doesn’t happen very often: you have a SON!" My response is a blur in my memory. I think I mumbled something about needing to talk with my husband. We had never even discussed parenting a son. I was not sure that he would agree to accept a boy. Where did my Mary go? The joy and elation of finally getting our referral was shattered with the feeling of great loss and confusion. Would I ever have the chance to parent a daughter? At the age of fiftyfive I knew that going back to China was not an option. I cannot describe adequately the comfort and reassurance that we received at that time from our agency. Complete acceptance of our shock and dismay. My husband and I rushed home from work to discuss this new turn of events.
My initial thoughts were that there must be something wrong with this little boy? Why would he be abandoned at birth? We had applied through the "non-special needs" program. The medical documents did not reveal any
concern in that regard. He was a perfectly healthy little boy and we accepted him as our son. We are people of faith and my husband's wisdom came through in the moment of chaos. "Perhaps this is not God's plan for
our lives, but God's plan for his life." After deep soul searching about my desire to be a Mother and wanting and expecting to have a daughter, I came to accept that I was to Mother a son.
Flash forward to China. August 7, 2011. The much anticipated "Gottcha Day". My husband and I sat waiting in our hotel room in Nanchang City, Jiangxi province. The phone rings and we hear "The babies are here!" Grab the camera, grab the video camera, grab the monkey book and treats, dash wildly for the elevator. Heart racing, blood pounding in my ears. Rush, rush, rush and then stand there still. Now looking at this little boy holding the hand of the Orphanage Director. He is shifting his weight back and forth from one foot to the other. He is uncertain what to do but very aware that something is happening. The thought hits me that his Dad does the exact same thing when under stress. Other babies are crying. Our son Mark is standing there just looking around the hotel lobby. I stand there uncertain. What am I to do?
Slowly I approach him. He is beautiful! He is our son! He is perfect! The Director thrusts him forward and I offer him raisins. He is not interested. The Director picks him up and hands him to me. He is showing signs of distress. I carry him over to the lobby chair and comfort him with the monkey book and the raisins. I try not to cry, as he is watching my face intently.
It was then that I noticed the skin on his legs from the knees down looked dry and cracked. They were covered with fine plaques of skin separated by cracks that looked like the surface clay of a dry, sun baked long evaporated desert riverbed. I wondered to myself if this little lad had ever seen a bath tub in the first two years of his life. It struck me as odd because he was dressed in a new, although too large a pair of cotton pajamas and otherwise looked clean and well kept. When we returned to our room I also noticed that his head was covered in a thick layer of skin that appeared to be a severe case of "cradle cap". We lathered him generously with baby lotion and the dry skin seemed less severe. On our third day together I was able to soak with him in an oatmeal bath. Our first two weeks together were a wondrous, joyful time of bonding as a family and enjoying our new son. Everywhere we went we were approached by local Chinese citizens who would comment on our good fortune to have received such a handsome son. They were incredulous that we had been given a male child to adopt. Our transition to a family was very smooth and our son adjusted quickly to his new role in our lives.
At the time of our appointment at the international medical clinic in Beijing, the physician found Mark to be in excellent health. She did comment that she was unable to see very well into his ears because of the thick, black
wax that occluded the drums. She noted the dry skin and mentioned the need to keep him well moisturized with lotion. She documented on his report that he had "dry skin and speech delay". We were advised to not bathe
him more than twice a week as this would dry his skin even more. Overall we were very pleased. We left China with happy memories and an appreciation for the gift of our precious son. Upon our return to Canada, I set about trying to find ways to solve the persistent dry skin problem that continued to plague our son. Family and friends were happy to finally meet our little man. Some would comment on his legs and ask us what was wrong with his skin. Several speculated that this was likely the reason why he was abandoned. I responded by going to the ever informative Google to seek out the answer to our son's skin problem.
I have a clinical background in Dermatology and am no stranger to skin conditions, but this was something I had never seen before. It did not take me long with the search words of "dry scaly skin" or "skin scales on legs" to find photos of a young boy, that in all honesty could very likely appear to be our son standing in his underwear with the exact same skin pattern. At last I felt that I had the diagnosis. He has ichthyosis. This condition is also commonly known as "fish skin disease". More reading, more information and more certain than ever that this was the mysterious condition that our son had. There are many forms of the disease with different causes and thus a broad spectrum of severity. Armed with this information I made an appointment with my family physician who reassured me that this was not ichthyosis but just a common form of eczema. I was told that Ichthyosis is "nasty" and that it "cracks and bleeds". I was given a prescription for an exfoliative skin cream and a topical antibiotic for the area on his scalp that had been scratched raw. I returned to Google to search out the best treatment for eczema as I was determined to relieve the itching and subsequent scratching that plagued our beloved son. What followed was over a year of family, friends and strangers offering up lotions, potions and concoctions made up specifically for Mark's skin. All of the suggestions and gifts were much appreciated and applied. We used nearly every commercial lotion available on the shelf of our local pharmacy. Products applied to his skin were made from bees wax, chamomile, thyme, olive oil, coconut oil and all non-petroleum based products. Often our son smelled like he should be the main course of our evening meal! He was bathed in oatmeal, Keri-oil and non-soap products. Weekends saw his hair spiked straight up while olive oil soaked into the skin of his scalp. Nothing worked and nothing offered any real or long lasting relief from the itching.
During the time of our pursuit of the perfect skin cream, Mark suffered two febrile seizures. The first one was just after our return from China at which time he was diagnosed with "croup" and the second time was six months later with no clear reason other than a febrile flu that infected the entire family over the next ensuing days. Mark was referred to a Pediatrician to review his health and the recurrent seizure activity. She had little concern and concluded that febrile seizures were common in children and not to be overly concerned as he would out grow the condition. We were assured that he did not have epilepsy. She examined his skin and gave me a pamphlet on how to treat eczema properly. We were to bathe him daily and to pat him dry and apply the lotions immediately before his skin dried completely. It became clear that Mark had low tolerance for high temperatures and each time we went to the hospital we were told that his ear drums were not visible because of the thick dark wax occluding them. This information had me returning to the family physician to resolve the ear wax problem. We saw an ENT specialist and each month we returned with the ear wax still present despite the regular instilling of diluted baking soda water as ordered. A persistent problem that had me worried that the specialist was doubting my adherence to the prescribed treatment. Clearly there was a connection between Mark's dry skin and the hard, dry wax in his ears. I returned to my family physician and insisted that he be
referred to a Dermatologist. We were given an appointment with a Pediatric Dermatologist but would have to wait for eight months. While we waited I continued to search on Google for more clues for a diagnosis. I returned to the web sites with descriptions of ichthyosis and was even more certain that this was the direction to go to find our answer. When we arrived at the Pediatric Dermatologist's office I was greeted by a gentleman who asked "So what can I do for you today?" I told him that he could tell me that my son had ichthyosis. A rather stunned look and than the question "What makes you think that he has ichthyosis?" I responded "I Googled it!" As you are reading this you can appreciate the rather cynical look that was on his face, followed by "Well then, lets have a look." Mark was promptly undressed and stood on the examining table patiently while the doctor looked over his back, arms and legs. The scales on his legs were the most obvious signs. In addition, all of his skin looked like antique porcelain with severe crazing cracks faintly etched over his entire body. Only the anticubital folds of his arms, behind his knees, he soles of his feet and his face were spared. I had purposely not applied lotion that day so that the severity of his dry skin could be appreciated. The physician agreed with my suspicions.
Our son has ichthyosis. We were now challenged with determining which type of ichthyosis most resembled Mark's condition. The large Dermatology text book was pulled from the shelf. Together we looked over the
descriptions and photos. We settled on X-Linked Ichthyosis as the most likely type based on the spared anticubital folds. This type of X-linked inherited genetic condition was passed on to Mark from his biological carrier
mother. A very rare skin condition estimated to affect only one in six to nine thousand male children. Confirmation will be determined once the Genetic Testing Clinic has been able draw blood from Mark and unravel
his DNA chain. We expect that the wait for that appointment will be over a year from now.
Here is what I have been able to find out about this condition. It is a summary of many of the texts, web sites and support group information sites that I have been mining for information. X-linked ichthyosis is an inherited
genetic skin condition. The word is Greek and means "fish". It is commonly called "fish skin disease". It is a hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 (some sites say 1in
9000) males. The skin cells are produced at a normal rate but do not separate normally at the surface of the skin. The result is a build-up of scales. The condition may not have been evident at birth but would almost always show up before the child’s first birthday. It is X linked recessive. This means that the mother would be the carrier. Female carriers of an STS deletion have a 50% chance of transmitting it to an offspring, so each male offspring has a 50% chance of having the disease and each female offspring has a 50% chance of being a carrier. As far as associated medical conditions, there is the possibility of corneal opacities that do not affect vision
(50%), cryptorchidism or maldescent of the testis is reported in some cases with an increased risk of testicular cancer (20%), mental retardation has been reported in some individuals but is associated with deletions encompassing neighboring genes in addition to STS. Some infants are born as "collodean" babies where at birth they would have looked very red and shinny like they had been shrunk wrapped in cellophane. Following birth this layer of skin dries up and then peels off of the baby like a flaking shell. Ichthyosis appears in boys about every other generation. The mother may have had a father or uncle with it. Associated risks include being cautious about overheating or having heat stroke due to the lack of the skins ability to sweat. This may also explain being prone to febrile seizures; however they are not necessarily related. Dry hard ear wax is also an associated problem that must be managed aggressively to ensure no hearing loss. In general all races are affected in the inherited and acquired forms of ichthyosis. Because this enzyme plays an important role in androgen metabolism, men with this ailment do not show androgenetic alopecia or develop only mild forms of this common type of hair loss. There are some syndromes associated with ichthyosis. They would be evidenced by total lack of smell and green colour blindness. Female carriers do not have any problems but may have difficulty during childbirth as the STS expressed in the placenta plays a role in normal labour so they sometimes do not go into labour or have problems with the placenta letting go of the uterine wall. There is some research going on to look at gene therapy to treat XLI.
Because there is no cure they simply treat the symptoms and accept that because it is not life threatening so very few dollars for research are forthcoming. There are support groups (i.e. Foundation for Ichthyosis & Related Skin Types (FIRST)) who are educating and pushing for more research on these conditions because many of the different types are much worse and potentially life threatening.
With the working diagnosis of ichthyosis comes the challenge of treatment. After two years of creams, lotions and potions we were advised to only use 10% Uremol lotion (a form of urea) initially and than advance it to
20% Uremol lotion when Mark can tolerate the slight stinging. We can continue with the oatmeal bath products and over the counter bath oil products. Bathing or showering is advised daily with only short soaking and
application of the lotions immediately following the bath before the skin dries. The scales on his legs will lift once he gets on a regular routine of bathing, scrubbing and moisturizing. The only prescription medication is a mild
form of Hydrocortisone cream for his face and Hydrocortisone ointment for the other skin surfaces if they become reddened or overly itchy. The condition will be life long and will not get worse over time. Mark's skin is simply dry. He has no reason not to live a long healthy life but will have to keep his skin moistened for comfort. He will eventually assume all responsibility for his grooming regimen and he will have relief of the discomfort
with regular application of the Uremol lotion. If he had been referred as a "special needs" adoption we would have been thrilled at the simplicity of it.
Hopefully one day there will be a way to stop the chain of inherited ichthyosis. For now, I am not concerned as Mark should have every reason to live a full and happy life. His children should all be healthy but some of his
daughters maybe carriers of the disease. They will have to watch for this condition in his grandchildren. It may offer some explanation as to why he was abandoned. So we now know what our son has and in addition may have more information to speculate on why this male baby was abandoned in China and considered unadoptable there. I can only say that if this simple inherited skin condition was why he was left at the gates of the Chating
Gerocromeum, it is a tremendous loss to his birth family and what a blessing to us! His family in China will likely never know what a wonderful precious little boy he is. He has such a great sense of humour and is so loving and very, very smart. Now that he is talking, we I are amazed at how much he knows and how quickly he catches on to things.
He is such a wonderful child that I could not have ever imagined being so fortunate as to being given this child to be our son. He is a joy to parent and everywhere we go he is so well behaved that people comment on what a sweet, well-mannered child he is. I hope I can still say this ten years from now, but I am pretty sure that he is what he is and he will continue to be a happy hearted lad. We are so blessed! To us he is perfect.
First published in Children's Bridge. Learn more about ichthyosis.