The blog of "Jacob Jennings" Living with a child who has 7Q Duplication.

Hello everyone... Today I am writing about our oldest Child... Jacob Steven Jennings. I am going to be writing about his first 10 years of his life up to his newest diagnoses of 7Q11.23 Duplication which is a Chromosome disorder...

I was 35 Years old when I had my first child Jacob Steven Jennings on October 3,2001. After a very hard long induced labor (46 1/2 hours) I was able to hold my little 6 lb 4oz baby boy. His apgars was within normal range and a healthy baby. About 2 hours after he came into the world his daddy(Steven) was holding him. The nurse came in to check on us looked at Steven then grabbed Jacob out of his arms and said the baby is not breathing and called code blue to my room. I was woken up with the nurse screaming code blue Steven screaming at the nurse. (Mind you Steven and I were exhausted and both sleeping.) The whole dang neonate team showed up looked at the nurse and said the baby is breathing just very shallow. The Neonate team was working on Jacob and took the baby to the NICU I told Steven DO NOT LEAVE JACOBS SITE! Hours passed and Steven told me that Jacob is fine but he has some issues with his lungs and he oxygen level is below normal so they want to keep him in the NICU for observation.  The next day the NICU team came in to talk to Steven and I about Our baby. We were informed that he is on oxygen and I.Vs. Heart Monitor you know all the garb that a NICU Baby has. The team was preparing me for I was going to see my baby 12 Hours AFTER the whole code blue incident. I have to say as I was being prepped and showed how to wash and glove up and dress up before I can even get threw the NICU doors. I admit I was scared and had no clue what I would see. Finally after scrubbing up I got to see my baby. I remember holding him and kissing him and just talking to him and crying all at once. It was feeding time and handed me the bottle and that crushed me for I wanted to Breast feed. The NICU Nurses were AMAZING! They had to show me how to feed Jacob for he was having some issues latching on to the bottle. after a few trys with the bottle we tried the breast. He was able to suck but not in a "normal" way. We ended up bottle training him for we had to hold his chin and make the seal around the bottle for he was having a very difficult time with this. As he was eating most of it was getting spit out for it seemed to me he was having a hard time sucking. Later we found out he was. Though out his week stay in the NICU the doctor's and NICU team was basically talking a different language to us. I remember Steven and I were in my room and we were getting ready to walk down the Long hallway to my son. The NICU resident came in to speak to us. (At this point we are day 2 in the NICU) She informed us that they were unable to find testicles on Jacob. Yes he has a penis and a sack but NO testicles. We have done 2 Ultrasounds and we can not find them! With this said the NICU resident informed us that as this point Jacob might be both genders (Boy and Girl) and now they are doing ultrasounds to look for a uterus. She then informed us that we might have to choose Jacobs gender and advised us that when we go see Jacob, his little space and his name card will be all white with the name...Baby Jennings. She informed us WE...WE need to address him as baby Jennings and so does the staff. I was SHOCKED,MAD, AND VERY CONFUSED! We then walked down the Long hallway and I was never so scared in my whole life! We got to Jacob and to my relief I see blue and his Name Jacob Jennings on his incubator. At this point I had Jacobs NICU main doctor paged. He did explain there concern but told us that he truly believes that Jacob is a boy and no need to call him Baby Jennings and the nurses and staff needs to call him Jacob! Whew Steven and I were feeling better but still worried. The Doctor informed us that he is concerned and will continue looking for his testicles and he has had genetic testing and chromosome testing to see if his chromosome come up as a boy or girl.  Every day Jacob got stronger and stronger and finally 5 days later they found his testicles WAY up in the pelvis. They day he got to come home we have been informed that there appears to be no chromosome issues  and he is ALL BOY also nothing showed up for a genetic disorder(mind you 7q dup has just been found in 2004...3Years AFTER  Jake was born). Thank You Jesus we get to take are baby home after 7 days in the NICU. As Jacob grew and started his baby milestones we were a little behind but no concerns. When he was a year old we had to go have surgery to bring his testicles down into the sack for they never dropped! At 3 1/2 he started limping and falling down so I took him to urgent care where they did Xrays and found that his hip was abnormal and told us to go go see a specialist. I had Jacobs Doctor paged. She informed me to go to Loma Linda University E.R for we will get help right away. Hours hours later we left the ER with Jacob and his new diagnose of Leg Calf Perthis Disease. Off to see a ortho in 2 days. He confirmed Jacob had this and had to wear braces for a year to help his blood circulation. A year later he was released to normal activities. At 3 1/2 years of age he was still not talking just pointing and using sign language. He started a Speech Preschool along with speech therapy until he was 5 and started speech at school along with advance PE for his muscles along with his IEP. This lasted until 2nd grade. In 2008 we packed up everything we owned and our only place we called home and moved to Oklahoma. This was a HUGE change but we all were excited about our new adventure and our new chapter in life. Once we found our home moved and got settled I was able to be a stay at home home and really focused on my family and told myself we have a brand new start and found Jacob and Joshua a doctor...Who would of known this would of opened up a brand new door? We found a great doctor and I spoke to Dr Click as a concerned parent for Jacob at age 6 was NEVER fully potty trained and was still wearing pull ups. He referred us to a speciality clinic in Oklahoma City. We were heading out to go see a Pediatric Gastric Specialists. He gave us another diagnoses of Encopresis (basically with holding, constipation) We have been seeing gastric for 2 years now and no change. Jake still gets hospital admit for clean outs, still doing everyday laxatives and I have to say this mommy is getting tired. Jake's gastric doctor was concerned since we have been his patient for 2 years he noticed Jake was little (small) for his age. He then referred us to a Pediatric diabetic/endocrinology doctor. Since there has really been no change with his bowels he decided maybe there is something more. We set up the appointment with Dr Blackett and Dr George. We did numerous test to see what his growth hormone levels were producing. Also had to do a MRI of the pituitary gland and brain...This MRI brought on another new issue! Dr Blackett called me like literally the next day with concern in his voice. He informed me that Jake has a abnormal MRI. The MRI did show that his pituitary gland is very very small... like a 1 year old so that can explain the poor growth for his pituitary gland does not have enough hormone to produce proper growth! His main concern he told me was not the pituitary gland that could be taken care of. He was concerned with Jacob's brain! He said there was fluid around his brain which they call a hydro seal. First thing I asked was this is why Jake has such a large head! He said yes for this could be the root of his issues and can have developmental challenges. We need to see a Peds Nuro asap. So once again we were off to see another Doctor. The Nuro doctor went over the MRI informed me that yes there was fluid but none compressing the brain and it appears to be non evasive and not worry about it. Cat Scan 6 Months later showed less fluid IDK. The nuro doctor did basic test of his motor skills and such. I explained I was concerned about his facial muscles and he said no worry just part of Jake everything looks good. I will not have to see you ever again unless something comes up! So that was that. Now to the last Month and a half. Dr George wanted answers. He said Jake is my patient and I want answers are you in mom...I said YES! So he hooked us up with Genetics...Mind you Dr George had a "Hunch" that Jake had Williams Syndrome but did not say anything to me for he knew I will go home and start researching lol. About a Month later Dr Wierenga has a proper diagnoses... A very rare diagnoses. Jake has a Genetic Disorder called 7q11.23 Duplication. This means he was born with a duplication of genes in his DNA. I have also been informed that this disorder has only been known since 2004 and as of 2005 there was studies of 7q duplication of only 40 people effected by this. We went back to Dr George and I could not thank him enough. He was surprised with this. At this point he told me he thought Jake had Williams Syndrome...7q11.23 Duplication is opposite of Williams. Williams is missing genes and 7dup is extra genes. Dr George and I discussed this and I had some paperwork about 7dup and Dr George told me he would love to put Jake in a studies series and OU Children's studies and or literature. After going home with this new info I researched for days. Found the St Louis website and here is  Dr Mervis that is doing studies of 7 dup for this is her specialty, We are going in Aug. Also got some info on Unique and was AMAZED at reading this new information and reading about my son! We all cried and Jake yelled YES! Mom this is a HUGE piece to the puzzle and other children are in my world! We were so relieved we had answers...Well not really. Got the diagnoses and now it is like okay here ya go. Know where to turn to for it seems we are alone with this thing called 7q11.23 Duplication for it is so rare. Jacobs "Meltdowns" have gotten worse to where they have become very very aggressive and only gets physical with me (Thank Goodness) We went back to OU to try to start medication management but has been informed we need a psychiatric doctor. It seems the next step is a 2 to 3 Month wait. I went to OU to get help but has been told that the next step would be back to Dr. Click (Jake's Primary Care Doctor) to get a referral to a psychiatrist.  Jake was also seen at OU Behavioral health with a psychologist. A psycolosgist can not help us with medication management either. Cynthia is his Therapy counselor she helps to show him ways to try to Handel certain anxiety situations and redirect the behavior...Sometimes this works sometimes it don't. OU's hands our tied right now. Julie (Jacob's Genetic Counselor) spoke to me about my fears and issue I showed her the "Meltdown" videos and it helped for she was crying with me and told me yes he needs help BUT... Dr Wierenga is not a general doctor or a psychiatrist, and therefore we can not help with the medication management. Julie also  informed me that Jake's other doctors might not have a clue about 7q23 duplication.  She said basically said I am the voice and advocate for Jake and 7q11.23 Duplication. I need to help educate Dr. Click and get him into a Psychiatrist to help with the anger issues that come with 7q dup.  Julie, Dr Wierenga, and myself are working together to get the help Jake needs. I have to say the Genetics team has been amazing. Julie has kept me informed with any information or questions I have. It is very hard for we are basically learning and researching together. As of May 2012 Jake is the first and only Child in the State of Oklahoma that has 7q dup (and as far as we know the only one tested)

Here is a rundown of what 7q dup is...

7q11.23 Duplication is caused by a small duplication with in the large arm (q arm) of chromosome 7. Typically most cells of our body have 46 chromosomes ,23 pairs. 23 chromosomes come from the mothers egg and 23 come from the fathers sperm, making a baby with 46 chromosomes. 7q11.23 duplication is often inherited (about 65% of cases) or maybe be a new syndrome that occurred when the child was being made. Since Jake has the dup he has a 50% chance that his children will inherit the duplication.

Living with a child who has 7Q Duplication has been hard. Since Jake was a baby we always accommodated his needs, moods, and body language. At a year old if we were visiting some where and Jake was ready to head home he would grab his stinky and take mine or Stevens hand walk us to the door and Point to leave. We did. I had so many people say to me well you leaving because a child says so. If we did not leave then we would have a very very fussy screaming baby on our hands. This was and still our life. When Jake was 4 I was trying to get him tested for Autism but everyone told me he is fine don't go searching for a problem that is not there. Don't get your child "Labeled" yadda yadda yadda.

Common features  of  7q Duplication...
Speech Delay
Learning Disabilities
Austic Features
social difficulties
behavior problems
ADHD,Aggression
Joint Laxity and unusual facial features
Several individuals have had heart disease,seizures,brain MRI abnormalities (non specific), Short Statue, constipation,and undescended testicles.

More then 75% of the children met the citeria for at least one anxiety disorder, with more then 50% diagnosed with a specific phobia and or social anxiety,more then 25% with separation anxiety.
50% met the citeria for for ADHD and 20% were diagnosed with ODD (Oppositional Defiant Disorder) Most of the children evidenced repetitive behaviors as assed by the repetitive behavior scales and most were classified on the short sensory profile.
Many children with dup 7 are being considered for an autism spectrum disorder (ASD)

Jacob has a lot of theses signs and symptoms some old since birth and as he is getting older some new. As of may 2012 Jacob is the first known case in Oklahoma to have 7q duplication. The last time I checked there was only 100 people with 7q dup in the World. With us going into studies I will continue to blog and keep everyone posted. I feel the Lord gives us what we can Handel. I feel this is my calling for my son and others out there who are lost, not getting the help they need for as a parent we know when something is not right with our children.

I hope this blog will help you understand Jacob and why Steven and I do what we do to accommodate Jacob so his anxiety level stays minimal. BTW we are all being tested since it is hereditary. We strongly feel that Steven will be another person on the statistics of Having the 7q dup.

If you have ANY DOUBT that something is wrong and you see a lot of these "Traits" if you can talk to a genetic specialists. This is so new and still in the learning process that most children and adults are not being tested and misdiagnoised!