EMAIL EMMALEIGH'S MOM NIKKI

^{EmmaLeigh Katelynn Aviana Dieguez was born September 18th, 2003 by a planned induction. She is my third child, first daughter. At birth her stats were up and down and was a concern for the doctors, she was born with a nucal cord times 2 but without any major consequences. We also noted some blanching of her skin around the right eye which in some spots appeared as bruising. We did not think a lot about it nor did the doctors, explaining that it was more than likely the way that she was laying inside of me. Nor did she breastfeed well at all, she was extremely hard to get to latch on and would seem to get tired quickly while eating.}

^{Within her first week home she still was having difficulties latching on during breastfeeding, seemed to tire easily during feeding and appeared to have apnea spells. This same time the blanching spot on her skin began to get some redness to it. We were told at that time it was more than likely a storks bite and not to worry. By her first well baby check up at two weeks it was filled in, raising slightly and noting that her eye seemed to be swollen, still her doctor was not concerned. At that appointment we found out about her heart murmur and were sent on to Omaha Children’s Hospital for an echo to prove the doctor was 100% positive it was an innocent infant murmur. She proved him wrong…What was to have been an in and out appointment resulted in having to stay for almost 2 hours and having to consult with the cardiologist.}

^{She was diagnosed with a coarctation of the aorta (narrowing of the aorta) at that time and we were told of the various surgical repairs that would be needed in time. (At that point they were thinking she would be able to hold off till after her first birthday. Her blood pressure was also flagged to be closely watched) the cardiologist was very concerned with her "birthmark" and urged us to have her rechecked. The next day we went to her family doctor again and he called a dermatologist as at this point EmmaLeigh was having a hard time opening her right eye.}

 ^{The appointment with the dermatologist was the next day. I was not able to make it to her appointment and that was the last appointment that I have ever missed of hers. When she got home with her dad he was very choppy with information and had notes with all that the dermatologist had told him…I think that all I caught from it all was brain problems or malformations, losing her eye sight in the right eye, syndrome, segmental hemangioma, rare and steroids… She was ever so kind enough to call me back that night and explain it all to me. PHACES Syndrome and that she already had a booking of numerous appointments for us to take little Miss Emma too. In the following week we seen a pediatric ophthalmologist, octoplastic surgeon, had a brain MRI done, crossed cardiology off our list as we already had the coarctation of the aorta and started on oral steroids to slow down the growth of the hemangioma and to save her eyesight. Her brain MRI revealed that the left posterior communicating artery (in the back of the brain) was either missing or underdeveloped, but no other problems noted.}

 ^{Our doctor appointments followed every two weeks with the dermatologist, ophthalmologist, octoplastic surgeon to monitor the steroids..up up up in dose she went till they felt as though the eye was not in risk and they had slowed the growth. In November she was placed on blood pressure meds to lower her blood pressure, they felt as though the steroids were causing it to increase even more quickly than they had hoped. And we met with the cardiothoracic surgeon to discuss the options and discuss EmmaLeigh’s diagnoses. An appointment in December showed that EmmaLeigh’s blood pressure was high and that the differences between her arms and legs were significant enough for surgery to repair the coarctation of the aorta. She was also increased on her blood pressure meds. Surgery was slated at the beginning of January to repair to aorta.}

 ^{January 2004 EmmaLeigh was taken by the nurse for her surgical repair. What was to have been cut and dry turned into more of WHATS and how did you not know…. The surgeon discovered a vascular ring around her esophagus and the trachea that he cut and removed…hence the problems with feedings and choking and not sleeping well lying down…but did not repair the coarctation of the aorta as her aorta was not where it was to have been. We were told that she had a right sided aortic arch and they went in from the wrong side. They tried hard to explain about more arteries and veins that do not go where they were supposed to go but really nothing made sense. So we healed and headed home with surgery for the coarctation scheduled in one month, February 2004. February went better, without major problems expect for having to remove an inch of the aorta to get the desired results the surgeon wanted. They placed her on preventative antibiotics due to her heart problems. He flagged her as over weight…she was weighing 25 lbs. This was due to the steroids for the hemangioma as she was overly hungry. Miss Emma bounced back quickly from the two back to back heart surgeries.}

 ^{It was after the surgeries that she was started on physical therapy as she was developmentally delayed, a lot of it being her weight factor. She made progress slowly but surely. In April her blood pressure medications were discontinued. By May she was off the oral steroids, the hemangioma was regressing and no longer a threat to her eye sight. Her appointments slowed down and we were starting to worry less and less. By 14 months she was up and walking and pt was discontinued. We were having problems with her drinking milk and choking and gagging, but they figured that it was due to the vascular ring that was cutting off her airway and were she swallowed causing her to choke and that in time it would get better.}

^{By 18 months she stopped drinking milk and would not eat but was not losing weight so it was not alarming to anyone but me…. The choking and gagging was very noticeable and at times she would vomit. We also were still battling constipation…as we did from birth with her.}

^{After countless doctor appointments she ended up getting sick in December 2005 and was sick till February 2006 with having been on four antibiotics. Finally I was able to get her into a pulmonologist. We were diagnosed with asthma, dog, tree, mold allergies. We treated her for the allergies and asthma without any help with the choking and gagging so then came a barium swallow, bronchoscopy and laryngoscopy. They all showed narrowing of the esophagus or the trachea with something pulsating. Off to the cardiothoracic surgeon and a new diagnosis of a kommerell’s diverticulum. The course of action in Omaha was to wait and make her symptoms worse before operation. I was not settled for that answer.}

^{A new brain MRI had been scheduled as well and showed a mastoid effusion..so off to the ENT we headed, with a hearing test and being told the mastoid effusion was resolved. (that stumped me as it was also on the right side of her…and not a lot of reason why she had it or what caused it or why it just went away…) Spells of blank/staring were noted and seizures were questioned… EmmaLeigh also has seen the dermatologist off and on for other skin issues and digs and scratches severely to the point of bleeding. She has been diagnosed with atopic dermatitis a form of eczema. We have had several different creams and ointments to try, without a lot of help. She is to take bleach baths when she has her flare ups due to at times her rashes will also become infected. She is at risk for staph infection and that also puts her at risk for bacterial endocarditis (infection of the heart.) EmmaLeigh also reacts severely to bug bites and swells up when bit and has had numerous infections due to these as well. She will also have full body swelling, abdominal bloating without any answers as to why she does this either. We have learned to just take one thing at a time and rule things out.}

 ^{April 2006 we traveled to Cincinnati Children’s Hospital for a consultation with the Hemangioma and Vascular Anomalies Clinic as well as the ENT, pulmonlogist, neurologist, cardiologist, pulmonologist and who all I else I may be missing. Surgery was slated to be done in Ohio the 18th of July.}

^{We kicked back and tried to enjoy our summer by the end of June EmmaLeigh was choking and gagging severely during the night. I was done, I was not able to sleep and she would gasp for air during these spells. So we were in Ohio yet again by the last few days of June. Surgery was moved up to July 3rd due to the symptoms. Surgery went well and she moved out of PICU quickly. I was concerned neurologically as she would not sit up and would lean terribly to the right, away from the surgical site and chest drain tube. I just knew something neurologically was occurring but was not able to prove it. After getting over a pneuomothorax she was out the door. Three weeks later we did our clear with the surgeon with flying colors and revisited with her neurologist. I took very good pictures of how she looked after surgery and kept good notes. The neurologist felt as though I was right and noted differences in EmmaLeighs reflexes and comprehension. Thankfully we have seemed to grow out of whatever happened. No answers for definite. Brain MRI/MRA/MRV showed the carotid arteries were twisted and smaller but not a lot of answers on what that means either and the first we had heard of it.}

^{Things currently have been moving well. We are still working on the constipation issue and she just recently started to have blood in her stool just trying to figure out what is going on…no Chron’s, Celiac’s or anything else noted with the endoscopy or colonoscopy biopsies. Still waiting and wondering and treating her still with miralax daily for bowel movements. Still waiting for the choking and gagging to stop as well…some days are better than others….others we will vomit. We are now again trying prevacid to rule out reflux, as we have done in the past. We are still not eating well…and awaiting an appointment to the feeding clinic. We have been flagged overweight..Yet she does not eat at all. We are trying to observe more for the blank and absent stares for seizures not to mention the odd movements that she does in the night that are seizure like. Her EEG’s have always come back normal with some discrepancies in the reports at times. April brings about another round of appointments in Cincinnati with more answers to fill in the gaps. And hopefully without any other problems between now and then.}

April 2007 Update:

EmmaLeigh is a very friendly, happy, and overly active 4 year old. She loves attending preschool and is doing rather well. We still have been dealing with her eczema and other skin irritations but she is doing rather well. Of course we have had the colds and unexplained fevers, but it really does not get her down. We are awaiting an appointment at Wisconsin Children’s Hospital on May 13^th, where we will be able to visit and meet some other families.