LOGAN'S JOURNEY WITH 17Q21.31: GENETICS AND MORE

LOGAN'S JOURNEY

Well Logan's journey started off fairly early on in my pregnancy. I was bleeding for the first few weeks of my pregnancy and the doctors thought I would miscarry.Through alot of prayers and patience we made it past that hurdle. When we went in for our twenty week ultrasound the doctors said that Logan's kidneys looked too big and they were going to send us to a specialist later in the pregnancy. At thirty-five weeks we went to the specialist so they could tell us what to expect when Logan was born. This appointment turned out to be alot more than that. The doctor told us I was not going home. I had to stay because Logan was in danger. His fluid level was so low they had a hard time measuring it and his size was way too small for his gestation. The doctor said his placenta had stopped nurishing him. So, two days later Logan was born. The doctor said his placenta was the worst looking placentas he had ever seen. He weighed 3 lbs. 15oz. He stayed in the NICU for three weeks. He had jaundice and had to be under the billy lights for two days. During his stay the nephrologist came in to discuss his kidneys. Logan had reflux and hydronephrosis of the kidneys. However, they were not going to do surgery. Logan had to be on antibiotics for the first two years of his life to avoid UTIs. Before leaving the hospital, Logan had a newborn hearing screening. He failed. His hearing loss is moderate and he wears a hearing aid in his left ear. At the age of seven Logan's speech is still that of a two year old. Logan had kidney issues and is hearing impaired but we were blessed that he made it into this world. At the age of one Logan had his first seizure. The doctor said it was fever related and it would probably not happen again. After two more seizures he was sent to a neurologist. He had gotten an EEG which showed that he had epilepsy but it was coming from a strange area of the brain so the doctor thought he might have a tumor. The doctor ordered an MRI. NO TUMOR praise to God!!! It did show that a portion of his right frontal lobe was not formed correctly.WHAT NEXT is what i thought to myself. How much more can this little baby take. The neurologist suggested we see a genetisist. Logan's first genetisist was good. She tried hard to figure out what Logan had. First she thought velocardiofacial because of his wide set eyes, broad nose, and low set ears, then it was angelman's, and finally she thought muscular dystrophy because of his low muscle tone and lack of reflexes. All of which were incorrect. Every test came back negative. She said there might not be anything to find. when Logan was two he had his first eye appointment for a tracking issue and strange movements. The first doctor told me he had ocular albinism (albino) but he told me we should take him to a pediatric eye specialist. ANOTHER SPECIALIST! The specialist told us he did not have ocular albinism but the pigment in his eyes is very blonde, almost no pigment but there was alittle. He ended up getting glasses when he was three for farsightedness. When Logan was three and a half my husband was transferred to Virginia Beach. It was the best thing that could happen for Logan. He had new doctors and fresh eyes on his symtoms. His new genetisist ran a new test that our insurance just approved. Four weeks later she called and told us to come in. UH-OH not good. She told us he had 17q 21.31 microdeletion syndrome. HUH? it is so rare that there is hardly any information on it. The little she did have was not all that helpful either. I liked to be prepared but that is just impossible because the lack of info. Logan has really been doing well. His size is still too small. He is in the fifth percentile for height and weight. Logan is developementally delayed. He recently had an IQ test done at school and his true IQ is between 50 and 70 with an average of 70 which is considered mentally retarded but i don't like that term. He receives ot, pt, and speech at school where he is in a special needs class. Logan had his annual genetics appointment and she said his back did not look quite right so she sent us to a orthopedist. He had several x-rays done and it turns out he has scoliosis. He nows sees the genetisist once a year, the neurologist twice a year, the audiologist twice a year, the nephrologist every other year, and now the orthopedist twice a year. Logan has a dermatology appointment on april 29 for some skin issues as well. That is his journey up until today. Every time something new comes up we wonder is this related to the 17q 21.31 microdeletion syndrome because we just don't know.

Thursday, September 13, 2012

GENETICS AND MORE

Logan had a genetics appointment yesterday and it was something new to worry about. He has fallen further off his growth curve, his scoliosis is worse, and she thinks he might have a connective tissue disease. He is going to see the endochronologist soon and the orthopedist. The genetisist wants me to write a research paper about 17q 21:31 if anyone would like to participate please contact me at jasonusn@verizon.net she said she would help get it published. It will be a comparison of the children and their ailments to the nmber of genes missing. please keep him in your prayers.