Accpeted to Scottish Rite Dallas

Great news! Today we received an acceptance letter from Scottish Rite Children's Hospital in Dallas Texas. It is one of the leading pediatric centers for the treatment of orthopedic conditions and certain related neurological disorders. There is no charge to patient families for treatment, and admission is open to Texas children from birth to 18 years of age.

Diego will meet with the orthopedic team on April 12th at 8:15 AM. We plan on driving up the day before and will stay at a nearby hotel. We are very excited that Diego has been given the opportunity to be treated by some of the best orthopedic physicians in the nation.

Diego is now 3 1/2 weeks old and is a joy to be around. We just love holding him and watching all his little facial expressions. They go from smiles to frowns in a matter of seconds. He is very alert and usually has his big beautiful eyes open to survey his surroundings.

He recently got a new swing thanks to a Baby's R Us gift card provided by Dad's team members at Dell. Thank you for the great gift!! He uses it daily to relax and watch mom run around picking up after Dad and Rocky ;)

PT started

Hi everyone! It has been a while since our last post...we have been busy busy busy and only now finally got some time to post a status of Diego's treatments.

We have setup his physical therapy and started meeting with Cindy Lewis a Senior Physical Therapist associated with the Children's Hospital of Austin. She is the same PT who saw Diego while in NICU on his first week of life.

During our first visit in her outpatient rehabilitation office, Cindy completed a mobility assessment which result was pretty good if compared to the first assessment conducted while in NICU. Diego's ROM (Range Of Motion) has improved although still a lot of work is required. He responded well and tolerated much better the motor development activities that Cindy put him through.

She gave us some instructions on how to help Diego with the stretching of his back and his continue development/learning of alternative prone positions. Arm exercises, including shoulder flexion/rotation, elbow and wrist flexion/extension are also a daily routine that we need to continue to do.

We have discussed the opportunity to start treatment of Diego's hands via splinting; Cindy will consult with Dr. Prince (Diego's orthopedic) and a couple of OT's to determine if splinting is an option at this early age (Diego is 3 weeks and 2 days old!).

Tomorrow morning we have an appointment with Dr. Immken (Genetics) and Friday we will see Dr. Prince again for a new cast. During our last visit we have shared the concern for atrophy of Diego's right leg's muscle due to the re-casting procedures. Dr. Prince suggested to have an ultrasound of the knee to evaluate if casting has been producing good results - if not, we will stop casting and re-evaluate for an alternative approach such as surgery or splinting. We have an ultrasound appointment scheduled for next Wednesday at the Children's Hospital.
Our next PT appointment is next Tuesday - for now, Diego will work with Cindy once a week but we will increase the number of PT visits per week in the future if necessary.

I want to thank the many people who wrote us during the past week; both Joseph and I have been overwhelmed by the kindness and support shared by family, friends and co-workers - even people we barely know have sent us offers for help and words of encouragement. Thank You!

Back to Milano

Last Monday grandpa Leo and grandma Elda left to go back home. We took them to the airport in the morning and let me tell you it wasn't easy to say goodbye, except for Diego, who slept for the entire time! Monday was also the first day back to work for dad...so Diego and mom have been spending a lot of time alone...bonding :)

We'd like everybody to know that overall we are doing great. Diego is about to start physical therapy and we are re-casting his right leg (3rd time) on Friday. We have been referred to the Scottish Rite Hospital in Dallas by Diego's orthopedic-pediatrician for a more detailed dignosis - the process is a little slow…she is telling us that they won't contact us before 3-4 weeks. Anyway, we can't wait to take him up there and make sure we are doing everything possible to improve his limbs and long-term mobility.

We want to thank from the bottom of our hearts all of you for being so supportive and for keeping Diego in your prayers.

Per chi parla Italiano...
Lunedi' scorso abbiamo salutato i nonni Leo e Elda che sono rientrati a Milano benche' e' stato difficile per loro dire arrivederci al Diego!
A fatica, ma anche il papa' Joseph e' rientrato al lavoro questa settimana. Sembra un po' uno zombi al mattino :) perche' inmancabilmente si sveglia di notte a controllare che Diego stia bene.

Per la maggior parte del giorno (e notte) Diego e mamma stanno cercando di ristabilire una routine accettabile ad entrambi anche se per il momento sta depravando mamma visto che non ha ancora capito come fare pisoli di 2 ore mentre Diego dorme!!!

Ad ogni modo, le cose vanno piuttosto bene, oggi sentiamo la fisioterapista e venerdi (domani) abbiamo appuntamento con la pediatra e l'ortopedico per cambiare il gesso alla gamba (3zo).
La grande novita' e' che l'ortopedico ci ha messo in contatto con un centro specializzato in Dallas chiamato Scottish Rite Hospital dove porteremo Diego per ottenere un'altra diagnosi un po' piu' accurata. Ci vorra' qualche settimana per organizzare la cosa ma siamo fiduciosi che questa equipe' di medici specializzati ci consentira' di determinare trattamenti sucessivi e specifici per il nostro caso.
Cogliamo nuovamente l'occasione per salutare e ringraziare tutti gli amici e i parenti che tifano per noi dall'Italia e continuano a scriverci e ad esserci vicino. Grazie di tutto cuore.
Romina & Joseph

Qualche info sulla diagnosi di Diego

Ciao a tutti in ascolto. Baby Diego sta lentamente abituandosi alla sua nuova casa con mamma e papa'. Mangia, anche se a volte a fatica, e dorme come un angioletto.

Oggi volevo darvi un po' piu' di informazioni sulla condizione salutare che probabilmente non molti di voi hanno sentito nominare in precedenza. Papa' Joseph ed io eravamo completamente all'oscuro dell'esistenza di questa rara patologia ma pian piano stiamo diventando piu' informati e sicuramente diventeremo degli esperti in poco tempo...

Diego ha cio' che sia chiama Artrogriposi. Solo un bambino su 3,000 nasce con questa rara disfunzione.

Voi vi chiederete: che cos'e' l'artrogriposi? L'artrogriposi è la fissazione prenatale delle articolazioni in flessione (contrazione). Quando si verifica una fissazione generalizzata delle articolazioni alla nascita, la malattia si definisce artrogriposi multipla congenita (AMC).

Lo sviluppo delle articolazioni si verifica durante il II mese di gestazione, e i disordini che impediscono i movimenti in utero (malformazioni uterine, gravidanze multiple, oligoidramnios) possono determinare artrogriposi.

Su Internet potete trovare una miriade di informazioni sull'artrogriposi; qui c'e' un sito dove danno una buona introduzione di cosa e' e come si cura. Per chi e' interessato a saperne di piu'...

http://www.aidweb.org/articoli_detail.asp?IDRecord=91

Nel caso di Diego, nei primi 2 mesi di gravidanza il medico ha riscontrato la presenza di grossi fibromi nel mio utero. I fibromi, anche se alcuni medici lo escludono fortemente, possono essere stati la causa di impedimento dei movimenti in utero per Diego. Se volete sapere di piu' sui Fibromi ecco qui un buon sito:

http://www.ecogin.it/fibromi.htm

Stiamo ancora ricercando altre possibili cause, ma per il momento questa e' la spiegazione piu' plausibile. E ad ogni modo, qualsiasi sia la causa, di certo non cambia il fatto che il Diego avra' bisogno di molte attenzioni mediche per, probabilmente, il resto della sua vita. Anche se le sue articolazioni non funzioneranno mai al 100% come le mie e le vostre, le possibilita' di migliorare le funzioni motorie sono enormi specialmente se la fisioterapia e le manipolazioni ortopediche iniziano durante i primi mesi di vita.

Papa' e mamma faranno tutto il possibile per accertarsi che il piccolo Diego sia in cura con i migliori medici che possiamo trovare e riceva i trattamenti idonei ai suoi bisogni. Siamo gia' al secondo gesso sulla gambina destra...e pensare che Diego e' nato solo 2 settimane fa' !!!

Vogliamo ringraziare di nuovo tutti coloro che ci hanno scritto mandandoci parole di sostegno, e messaggi di auguri e incoraggiamento. Come potete immaginare noi siamo fortemente impegnati in questo viaggio del piccolo Diego e le vostre preghiere e parole di supporto sono e saranno sempre di benvenuto.

Continueremo a tenervi informati sui progressi e i trattamenti. La mamma :)

AMC Support Website

Today we registered with http://www.amcsupport.org/ It is a place were families can find and share information about Arthrogryposis. We plan on attending their upcoming convention which will take place July 12th - 15th in Arlington just 2 1/2 hrs drive from Austin.

Time to see the Doctor

Diego has been home 2 days now and we have enjoyed learning to be parents. His first night home we got very little sleep thanks to the hospital's rigid eating schedule. We made it thru the night but by morning we were pretty worn out. The second night went much better. He slept from 11:30 pm to 5:30 am. When he woke up he was very hungry and ate all his breakfast. During the day he was either sleeping or eating and did not fuss at all.

Today was Diego's first outing with mom and dad. It was to meet his Pediatrician at 10 am and his Orthopedic Surgeon at 2 pm. The meeting with his Pediatrician, Dr. Karen Haslund, went well but at times we found it emotionally difficult to discuss the reality of his condition. She was very patient and assured us he would get the best possible care.

The meeting with his Orthopedic Surgeon, Dr. Michelle Prince, gave us hope that Diego's condition could be greatly improved. Though she offered no guarantees, her optimism really made our day. She also removed Diego's cast and replaced it with a new one. A process she will repeat every week. Each time bending his leg at the knee a little more to help stretch the muscles and joints. She plans to focus on his right knee, his feet then his hips in that order. She also told us that x-rays revealed he has a dislocated left hip. Treatment to correct the hip will begin after initially addressing his feet. Most likely after serial casting is done since it will take 3 years to correct this feet. To correct his hands she provided a referral to "the best hand surgeon in the world" who is located at Scottish Rite hospital in Dallas. The hospital is one of the leading pediatric centers for the treatment of orthopedic conditions and certain related neurological disorders. She also recommended we have their neurological team perform Diego's muscle biopsy and wanted us to consider having them lead all aspects of his treatment. Essentially moving his treatment to Dallas which will require a lot of driving for mom and dad. Of course we want the best for our little boy so we will do whatever it takes to see that he gets it.

Overall Diego's first day out with mom and dad was a huge success! It involved long waits, several diaper changes and a feeding all of which were executed flawlessly. He really his a good little boy and we thank god for bringing him into our lives.

Diego comes home!!

Let us begin by saying we are totally exhausted! Our night in the Rooming-in room went extremely well for Diego. As for us, we were up every 3 hrs for at least 1 hr all night. At each feeding we recorded the amount of milk he drank, weighed his dribble bibs using a digital scale to figure what he lost, changed his diaper, burped him, took his temp and put him back to sleep. It was rough but well worth the result. At 5:30 am Diego's NICU nurse came into the room to take his weight. He gained over 2 oz while under our care! Words can not express our level of happiness knowing that Diego was finally coming home! All that was left was 10 am meeting with his physical therapist. She met us in the room and taught us how to stretch Diego's contracted joints. Something we needed to do this daily to increase his range of motion. Following the PT meeting Diego was moved back into NICU and we moved out of the room and put our things in the car. We went back up to discharge Diego but were told he still needed a hearing test and his nurse was busy working with other babies. We would have to wait another hour! We decided to have a late lunch at a nearby restaurant to pass the time.

On return we parked at the main entrance reserved for patient pickup. We then made what we hoped would be a our last trip to NICU. We met his nurse 'Maria' and she went thru the discharge checklist. Finally we put him in his car seat and were escorted out the main entrance. Maria made sure his seat was securely in place, gave Romina a hug and we headed home! Finally!!

On the ride home we had to make an abrupt stop causing us to lock up the brakes to avoid hitting another car. It startled Diego and scared us pretty good. The remaining ride went well but very slow.

We finally made it home at about 6:15 pm. Diego's grandparents visiting from Milan, Italy were inside preparing dinner. We never told them he was coming home because we wanted it to be a big surprise. As we walked thru the door we were greeted first by Rocky(our Yorkie) then Diego's proud grandparents. It was a wonderful homecoming for out little boy! Life was starting to feel normal again.
We want to thank all the doctors, nurses and staff at Seton for taking such wonderful care of Diego. Special thanks to Nurse Jeannie who's care and compassion always made things a little better. Also to Nurse Davika for her wonderful support during our last night in NICU and finally to Dr. Hodges who will always have friends in Milan. Let us know when you go back to visit!

Preparing to Come Home

Since having his feeding tube removed, Diego continues to eat well and is gaining weight. We are now starting to feel like he will be coming home soon. It is a wonderful feeling! These last 7 days have been an exhausting and frustrating experience and all we want to do is take our baby home! Before we can do that we need to spend a night in the 'Rooming-In' room. This is a room just outside the NICU where babies can stay overnight with their parents. We will stay there 1 night keeping a log of Diego's feedings, potties and body temperature. This is the last major test before taking him home. If we show that Diego can eat and gain weight while under our care he will most likely be released the following day. So tonight at 7:30 pm we will move into the Rooming-In room and spend our first night together as a family.

Earlier today Diego passed his 'Car Seat' study with flying colors. It was a test to see if he can remain in his car seat for the duration of the ride home without experiencing breathing problems. It was all done in the NICU where the nurse strapped him in and put an oxygen lead on his foot. He slept the whole time without the slightest problem :)

Ai Cugini e Zii in Italia!

Questa nota speciale e' indirizzata a i miei cugini e zii Italiani.

Vi ringrazio tutti di cuore per i messaggi di benvenuto e anch'io come voi non vedo l'ora di incontrarvi presto. Mando un bacio grande a Silvia, Alessandro, Mattia, Simone, Marco e Beatrice.

Mi hanno finalmente tolto il tubicino che andava dal nasino allo stomaco e che mi serviva per mangiare. Ho imparato a fare da solo! Il che significa che se continuo a fare progressi nei prossimi 2-3 giorni mi manderanno a casa con mamma e papa'. I nonni Elda e Leo sono ancora qui ma dovranno tornare in Italia il 19 Marzo. Spero di riuscire ad essere a casa in pochi giorni e poter passare un po' di tempo con loro prima che partino.

Carissimi cugini e zii (e chiunque altro in lettura...) mi potete scrivere alla mia email personale diego@houndheaven.com - il papa' mi legge la posta tutti i giorni!!!!

Grazie di nuovo per tenermi nei vostri pensieri e preghiere. Diego

Look Mom & Dad, I'm eating!

Diego's eating has improved so much that today his feeding tube removed! He now eats solely from a bottle :) That is especially good news because his lack of eating is why he was placed in NICU. If he keeps up the good work, he will be home by the middle of next week..so we hope. Mom and dad remain here at the hospital in room 735. We go upstairs to NICU every few hours to feed and change Diego's diaper. We are so happy that Seton has provided us a room to be near our baby boy. Thank you so much!

Discharge Day for Romina

Today Romina was cleared for discharge. Unfortunately Diego will remain in NICU until he is able to drink 50ml of milk every 3 hours for 2 days in a row. There are exceptions to the rule but that is the norm. Although Romina will be officially discharged this afternoon, we are keeping the hospital room to remain near Diego. The room was provided to us thru Seton's Nesting program. It is a service that provides rooms to Parents with children in NICU. It is dependent on space so if the Labor & Delivery area fills up we will have to leave. Our other option is to stay across the street at the 'League House'. It is similar to Nesting but is off campus and charges a small fee of $15 per night.

Earlier today Diego had his blood drawn for another genetic test. This one is called Fish-22. It is a marker that checks for his ability to metabolize calcium. Good results are expected. They just want to make sure and check for everything. The doctors and nurses here at Seton have been really wonderful! We really appreciate their professionalism and the excellent care they are providing to Diego.

Il mio Primo Trattamento Ortopedico...

Ciao a tutti. Oggi ho iniziato il trattamento ortopedico alla gambina destra. Mi hanno messo un semi-gesso che sara' sostituito una volta a settimana per almeno 8 settimane consecutive. Il dottore dice che il mio ginocchio ha bisogno di attenzioni speciali in quanto e' uno dei punti che richiedara' piu' tempo a sistemarsi.
La patologia malformativa congenita di cui sono stato diagnosticato ha dei vantaggi...e si, mamma e papa' sono sempre qui e tutte le belle infermiere vengono a vedermi e non vi dico quanti baci e carezze che ricevo da tutti!!!!
Quasi dimenticavo, finalmente mamma e' riuscita a portarmi un po' di latte materno...nonno dice che erano 3 giorni che provava senza risultati...ma finalmente questa mattina e' riuscita ad accumularne 15 ml. Naturalmente ne ho bisogno di molto di piu' ma se vedete la mia mamma ditele che ne apprezzo ogni goccia!

MRI Results & Orthopedic Treatment Begins

Good news! Today we received the unofficial results of the MRI scan. It was considered unofficial because it was presented verbally and not yet written up by the Neurologist. The scan did not show any brain or nervous system abnormalities. That was a huge relief to hear because doctors were concerned that his brain or nervous system was unable to communicate to his muscles. These results mean Diego is 100% mentally intact. He just has a few twisted limbs ;) Speaking of which, he received the first soft cast on his right leg. Eventually both legs will go thru weekly cast changes but for now they are concentrating on the one that needs the most work. Later additional work will be done to straighten his hands and arms.

This evening Diego drank nearly 50 ml of milk thru a bottle! That's 45 ml more than yesterday! We are praying he will continue to make good progress so he can go home when Mama is discharged on Friday. We are so proud of our little Diego!

Learning How to Eat

Diego is still in ICU and slowly learning how to eat on his own. He still has a ways to go before he can move back into the room with mom. So every three hours she will leave her room on the 7th floor and go up one floor to NICU to feed Diego. Up to now he has only been able to drink 5 ml of milk on his own. He needs to take in 50 ml so the remaining milk is given thru the feeding tube.

This morning a representative from the March of Dimes stopped by to evaluate his condition and provide information about the organization. He was also visited by a Geneticist, Neurologist and his Pediatrician. He has become quite popular with the staff and it seems a new doctor is added to the list everyday. So far he has been assigned the following 6 specialists:

• Cardiologist
• Neurologist
• Geneticist
• Pediatric Orthopedic Surgeon
• Neonatologist
• Radiologist

Today his Neurologist requested a MRI of Diego's brain to check for nervous system defects. It was scheduled for 2:30pm so we may not get the results today. He also wants to take a muscle biopsy to check for muscular disorders but he is too young for the procedure.

We want to thank everyone for their caring emails, prayers and flowers. All are greatly appreciated!

Diego is born!

We are proud to announce the birth of Diego Tonelli-Nova. He was born via c-section at 12:11pm on March 5th at Seton Hospital in Austin, Texas. Despite having been diagnosed with a ventricular septal defect while in utero, Diego showed no signs of distress and was a wonderful shade of pink which indicated he had good blood circulation. Additional tests showed his blood oxygen level to be at 100%. Although we were happy to see indications that his little heart was beating normally, we waited for the results of his planned echocardiogram before feeling he was out of the woods. The exam was performed by a cardiologist within 30 minutes of his birth. Thankfully the results showed his condition was not life threatening and could be surgically corrected once he turned six months old. Unfortunately this is where the good news ended. Looking at Diego we could see something was clearly wrong with his arms and legs. That something was later diagnosed as Arthrogryposis Multiplex Congenita. It is a condition that affects the joints and muscles of the arms and legs. It can also affect the tongue preventing babies from eating on their own as is the case with Diego. When it was clear that he was having difficulties eating, he was moved to Intensive Care and a feeding tube was inserted thru his nose and into his stomach. By this time was only 22 hrs old. As of this writing Diego is still in NICU. Romina is doing well and will require extra care which will keep her in the hospital until Friday. We apologize to everyone for not messaging out the details of Diego's birth sooner. The events over the last 24 hrs have been emotionally overwhelming and we know this is only the beginning. Please check back for updates on Diego's condition.